← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-88722779-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=88722779&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 88722779,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000504921.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "NM_002397.5",
"protein_id": "NP_002388.2",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 7281,
"mane_select": "ENST00000504921.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "ENST00000504921.7",
"protein_id": "ENSP00000421925.5",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 7281,
"mane_select": "NM_002397.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1277C>T",
"hgvs_p": "p.Ala426Val",
"transcript": "ENST00000340208.9",
"protein_id": "ENSP00000340874.5",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 483,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 6192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "ENST00000437473.6",
"protein_id": "ENSP00000396219.2",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "ENST00000424173.6",
"protein_id": "ENSP00000389610.2",
"transcript_support_level": 1,
"aa_start": 406,
"aa_end": null,
"aa_length": 463,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 6336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1079C>T",
"hgvs_p": "p.Ala360Val",
"transcript": "ENST00000628656.2",
"protein_id": "ENSP00000487311.1",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 417,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1007C>T",
"hgvs_p": "p.Ala336Val",
"transcript": "ENST00000626391.2",
"protein_id": "ENSP00000487184.1",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 393,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1277C>T",
"hgvs_p": "p.Ala426Val",
"transcript": "NM_001193347.1",
"protein_id": "NP_001180276.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 483,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 6244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "NM_001193350.2",
"protein_id": "NP_001180279.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 7278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "NM_001364329.2",
"protein_id": "NP_001351258.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 7470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "NM_001364330.2",
"protein_id": "NP_001351259.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1811,
"cdna_end": null,
"cdna_length": 7473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "NM_001364331.2",
"protein_id": "NP_001351260.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 7377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "ENST00000636294.1",
"protein_id": "ENSP00000490473.1",
"transcript_support_level": 5,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1241C>T",
"hgvs_p": "p.Ala414Val",
"transcript": "ENST00000625585.2",
"protein_id": "ENSP00000487538.1",
"transcript_support_level": 5,
"aa_start": 414,
"aa_end": null,
"aa_length": 471,
"cds_start": 1241,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "NM_001308002.3",
"protein_id": "NP_001294931.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 7257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "NM_001364333.2",
"protein_id": "NP_001351262.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 7254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "ENST00000508569.5",
"protein_id": "ENSP00000423597.2",
"transcript_support_level": 5,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "ENST00000629612.2",
"protein_id": "ENSP00000486554.1",
"transcript_support_level": 5,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "NM_001131005.2",
"protein_id": "NP_001124477.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 463,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 6184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "ENST00000625674.2",
"protein_id": "ENSP00000487430.1",
"transcript_support_level": 5,
"aa_start": 406,
"aa_end": null,
"aa_length": 463,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Ala405Val",
"transcript": "ENST00000637481.1",
"protein_id": "ENSP00000490354.1",
"transcript_support_level": 5,
"aa_start": 405,
"aa_end": null,
"aa_length": 462,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 6088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Ala394Val",
"transcript": "NM_001364338.2",
"protein_id": "NP_001351267.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 451,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 6088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ala384Val",
"transcript": "NM_001363581.2",
"protein_id": "NP_001350510.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 441,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 5863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ala384Val",
"transcript": "NM_001364334.2",
"protein_id": "NP_001351263.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 441,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 6250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ala384Val",
"transcript": "NM_001364335.2",
"protein_id": "NP_001351264.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 441,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 5879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ala384Val",
"transcript": "NM_001364336.2",
"protein_id": "NP_001351265.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 441,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 6061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ala384Val",
"transcript": "NM_001364337.2",
"protein_id": "NP_001351266.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 441,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 6058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ala384Val",
"transcript": "ENST00000514015.5",
"protein_id": "ENSP00000424606.1",
"transcript_support_level": 5,
"aa_start": 384,
"aa_end": null,
"aa_length": 441,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ala384Val",
"transcript": "ENST00000514028.5",
"protein_id": "ENSP00000426665.2",
"transcript_support_level": 5,
"aa_start": 384,
"aa_end": null,
"aa_length": 441,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ala384Val",
"transcript": "ENST00000636998.1",
"protein_id": "ENSP00000490630.1",
"transcript_support_level": 5,
"aa_start": 384,
"aa_end": null,
"aa_length": 441,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 5936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ala384Val",
"transcript": "ENST00000637732.1",
"protein_id": "ENSP00000490241.1",
"transcript_support_level": 5,
"aa_start": 384,
"aa_end": null,
"aa_length": 441,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"transcript": "NM_001364339.2",
"protein_id": "NP_001351268.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 433,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 6034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"transcript": "NM_001364340.2",
"protein_id": "NP_001351269.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 433,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 6037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"transcript": "NM_001364341.2",
"protein_id": "NP_001351270.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 433,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"transcript": "NM_001364342.2",
"protein_id": "NP_001351271.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 433,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 5961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"transcript": "ENST00000510942.5",
"protein_id": "ENSP00000422390.2",
"transcript_support_level": 5,
"aa_start": 376,
"aa_end": null,
"aa_length": 433,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1121C>T",
"hgvs_p": "p.Ala374Val",
"transcript": "NM_001364343.2",
"protein_id": "NP_001351272.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 431,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 6028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1121C>T",
"hgvs_p": "p.Ala374Val",
"transcript": "ENST00000627659.2",
"protein_id": "ENSP00000486490.1",
"transcript_support_level": 5,
"aa_start": 374,
"aa_end": null,
"aa_length": 431,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Ala368Val",
"transcript": "NM_001364344.2",
"protein_id": "NP_001351273.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 425,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 7137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1079C>T",
"hgvs_p": "p.Ala360Val",
"transcript": "NM_001193348.1",
"protein_id": "NP_001180277.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 417,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 5756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.Arg392Trp",
"transcript": "ENST00000506554.5",
"protein_id": "ENSP00000425636.1",
"transcript_support_level": 5,
"aa_start": 392,
"aa_end": null,
"aa_length": 399,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 3469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1007C>T",
"hgvs_p": "p.Ala336Val",
"transcript": "NM_001193349.3",
"protein_id": "NP_001180278.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 393,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 5917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1007C>T",
"hgvs_p": "p.Ala336Val",
"transcript": "NM_001364332.2",
"protein_id": "NP_001351261.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 393,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 5914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ala290Val",
"transcript": "NM_001364353.2",
"protein_id": "NP_001351282.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 347,
"cds_start": 869,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 6824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ala290Val",
"transcript": "ENST00000707127.1",
"protein_id": "ENSP00000516755.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 347,
"cds_start": 869,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Ala270Val",
"transcript": "ENST00000503554.4",
"protein_id": "ENSP00000487437.2",
"transcript_support_level": 5,
"aa_start": 270,
"aa_end": null,
"aa_length": 327,
"cds_start": 809,
"cds_end": null,
"cds_length": 984,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Ala258Val",
"transcript": "NM_001364356.2",
"protein_id": "NP_001351285.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 315,
"cds_start": 773,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 5604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Ala234Val",
"transcript": "NM_001364357.2",
"protein_id": "NP_001351286.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 291,
"cds_start": 701,
"cds_end": null,
"cds_length": 876,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 5436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Ala454Val",
"transcript": "XM_047417217.1",
"protein_id": "XP_047273173.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 511,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 3394,
"cdna_end": null,
"cdna_length": 9056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "XM_005248511.4",
"protein_id": "XP_005248568.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 7099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "XM_011543396.4",
"protein_id": "XP_011541698.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 7338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "XM_024446055.2",
"protein_id": "XP_024301823.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 7205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "XM_024446056.2",
"protein_id": "XP_024301824.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 7086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "XM_047417181.1",
"protein_id": "XP_047273137.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 3145,
"cdna_end": null,
"cdna_length": 8807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "XM_047417182.1",
"protein_id": "XP_047273138.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 3148,
"cdna_end": null,
"cdna_length": 8810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "XM_047417183.1",
"protein_id": "XP_047273139.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 7390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "XM_047417184.1",
"protein_id": "XP_047273140.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 7083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "XM_047417185.1",
"protein_id": "XP_047273141.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 7096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "XM_047417186.1",
"protein_id": "XP_047273142.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 7208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "XM_047417187.1",
"protein_id": "XP_047273143.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 7393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "XM_047417188.1",
"protein_id": "XP_047273144.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 473,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 3280,
"cdna_end": null,
"cdna_length": 8942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1241C>T",
"hgvs_p": "p.Ala414Val",
"transcript": "XM_024446058.2",
"protein_id": "XP_024301826.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 471,
"cds_start": 1241,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 7199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1241C>T",
"hgvs_p": "p.Ala414Val",
"transcript": "XM_024446059.2",
"protein_id": "XP_024301827.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 471,
"cds_start": 1241,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 7080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1241C>T",
"hgvs_p": "p.Ala414Val",
"transcript": "XM_047417189.1",
"protein_id": "XP_047273145.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 471,
"cds_start": 1241,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 7384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "XM_047417190.1",
"protein_id": "XP_047273146.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 3121,
"cdna_end": null,
"cdna_length": 8783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "XM_047417191.1",
"protein_id": "XP_047273147.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 3124,
"cdna_end": null,
"cdna_length": 8786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "XM_047417192.1",
"protein_id": "XP_047273148.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 3223,
"cdna_end": null,
"cdna_length": 8885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "XM_047417193.1",
"protein_id": "XP_047273149.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 7075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "XM_047417194.1",
"protein_id": "XP_047273150.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 7446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "XM_047417195.1",
"protein_id": "XP_047273151.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 7181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "XM_047417196.1",
"protein_id": "XP_047273152.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 3220,
"cdna_end": null,
"cdna_length": 8882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "XM_047417197.1",
"protein_id": "XP_047273153.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 7366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "XM_047417198.1",
"protein_id": "XP_047273154.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "XM_047417199.1",
"protein_id": "XP_047273155.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 7184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "XM_047417200.1",
"protein_id": "XP_047273156.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 7062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Ala408Val",
"transcript": "XM_047417201.1",
"protein_id": "XP_047273157.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 465,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 7072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "XM_017009478.3",
"protein_id": "XP_016864967.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 463,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 3115,
"cdna_end": null,
"cdna_length": 8777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "XM_047417202.1",
"protein_id": "XP_047273158.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 463,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 3118,
"cdna_end": null,
"cdna_length": 8780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "XM_047417203.1",
"protein_id": "XP_047273159.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 463,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 8879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ala384Val",
"transcript": "XM_047417204.1",
"protein_id": "XP_047273160.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 441,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 3049,
"cdna_end": null,
"cdna_length": 7587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ala384Val",
"transcript": "XM_047417205.1",
"protein_id": "XP_047273161.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 441,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 3052,
"cdna_end": null,
"cdna_length": 7590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"transcript": "XM_047417206.1",
"protein_id": "XP_047273162.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 433,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 3025,
"cdna_end": null,
"cdna_length": 7563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"transcript": "XM_047417207.1",
"protein_id": "XP_047273163.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 433,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 3028,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"transcript": "XM_047417208.1",
"protein_id": "XP_047273164.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 433,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 6094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"transcript": "XM_047417209.1",
"protein_id": "XP_047273165.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 433,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 6226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"transcript": "XM_047417210.1",
"protein_id": "XP_047273166.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 433,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 3124,
"cdna_end": null,
"cdna_length": 7662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"transcript": "XM_047417211.1",
"protein_id": "XP_047273167.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 433,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 7665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1121C>T",
"hgvs_p": "p.Ala374Val",
"transcript": "XM_047417213.1",
"protein_id": "XP_047273169.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 431,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 3019,
"cdna_end": null,
"cdna_length": 7557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1121C>T",
"hgvs_p": "p.Ala374Val",
"transcript": "XM_047417214.1",
"protein_id": "XP_047273170.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 431,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 7560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1121C>T",
"hgvs_p": "p.Ala374Val",
"transcript": "XM_047417215.1",
"protein_id": "XP_047273171.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 431,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 6223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1121C>T",
"hgvs_p": "p.Ala374Val",
"transcript": "XM_047417216.1",
"protein_id": "XP_047273172.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 431,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 3121,
"cdna_end": null,
"cdna_length": 7659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1149C>T",
"hgvs_p": "p.Gly383Gly",
"transcript": "NM_001364345.2",
"protein_id": "NP_001351274.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 388,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 5877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1149C>T",
"hgvs_p": "p.Gly383Gly",
"transcript": "NM_001364346.2",
"protein_id": "NP_001351275.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 388,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 6059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1149C>T",
"hgvs_p": "p.Gly383Gly",
"transcript": "NM_001364347.2",
"protein_id": "NP_001351276.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 388,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 6056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1125C>T",
"hgvs_p": "p.Gly375Gly",
"transcript": "NM_001364348.2",
"protein_id": "NP_001351277.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 380,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 6035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1125C>T",
"hgvs_p": "p.Gly375Gly",
"transcript": "NM_001364349.2",
"protein_id": "NP_001351278.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 380,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 6032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1125C>T",
"hgvs_p": "p.Gly375Gly",
"transcript": "NM_001364350.2",
"protein_id": "NP_001351279.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 380,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 6147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1119C>T",
"hgvs_p": "p.Gly373Gly",
"transcript": "NM_001364352.2",
"protein_id": "NP_001351281.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 378,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1005C>T",
"hgvs_p": "p.Gly335Gly",
"transcript": "NM_001364354.2",
"protein_id": "NP_001351283.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 340,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.1005C>T",
"hgvs_p": "p.Gly335Gly",
"transcript": "NM_001364355.2",
"protein_id": "NP_001351284.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 340,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.534C>T",
"hgvs_p": "p.Gly178Gly",
"transcript": "ENST00000627717.2",
"protein_id": "ENSP00000486932.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 183,
"cds_start": 534,
"cds_end": null,
"cds_length": 552,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Gly146Gly",
"transcript": "ENST00000627170.2",
"protein_id": "ENSP00000487157.1",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 151,
"cds_start": 438,
"cds_end": null,
"cds_length": 456,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C-AS2",
"gene_hgnc_id": 53115,
"hgvs_c": "n.411G>A",
"hgvs_p": null,
"transcript": "ENST00000510274.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "n.1088C>T",
"hgvs_p": null,
"transcript": "ENST00000636143.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C-AS2",
"gene_hgnc_id": 53115,
"hgvs_c": "n.411G>A",
"hgvs_p": null,
"transcript": "NR_146284.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C-AS2",
"gene_hgnc_id": 53115,
"hgvs_c": "n.232-39218G>A",
"hgvs_p": null,
"transcript": "ENST00000657578.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C-AS2",
"gene_hgnc_id": 53115,
"hgvs_c": "n.225-39218G>A",
"hgvs_p": null,
"transcript": "ENST00000659116.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C-AS2",
"gene_hgnc_id": 53115,
"hgvs_c": "n.72+46516G>A",
"hgvs_p": null,
"transcript": "ENST00000787848.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "n.*58C>T",
"hgvs_p": null,
"transcript": "ENST00000510980.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"dbsnp": "rs768570497",
"frequency_reference_population": 0.0000061571636,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615716,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22088110446929932,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.325,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0922,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.65,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000504921.7",
"gene_symbol": "MEF2C",
"hgnc_id": 6996,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_146284.1",
"gene_symbol": "MEF2C-AS2",
"hgnc_id": 53115,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.411G>A",
"hgvs_p": null
}
],
"clinvar_disease": " and impaired language, stereotypic hand movements,Neurodevelopmental disorder with hypotonia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}