MIR6759
Basic information
Region (hg38): 12:57748618-57748682
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR6759 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
Variants in MIR6759
This is a list of pathogenic ClinVar variants found in the MIR6759 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-57748620-G-A | Familial melanoma | Uncertain significance (Mar 26, 2021) | ||
12-57748621-A-C | Hereditary cancer-predisposing syndrome • Familial melanoma | Conflicting classifications of pathogenicity (Nov 06, 2023) | ||
12-57748621-A-G | Hereditary cancer-predisposing syndrome • Familial melanoma • Melanoma, cutaneous malignant, susceptibility to, 3 | Likely benign (Sep 27, 2024) | ||
12-57748621-AG-A | Familial melanoma | Uncertain significance (Nov 19, 2017) | ||
12-57748622-G-A | Familial melanoma • Hereditary cancer-predisposing syndrome | Conflicting classifications of pathogenicity (Feb 07, 2024) | ||
12-57748623-G-A | Melanoma, cutaneous malignant, susceptibility to, 3 | Likely benign (Sep 27, 2024) | ||
12-57748623-G-C | Familial melanoma | Likely benign (Jan 23, 2023) | ||
12-57748623-G-GC | Familial melanoma • Melanoma, cutaneous malignant, susceptibility to, 3 | Likely benign (Sep 26, 2024) | ||
12-57748624-G-A | Melanoma, cutaneous malignant, susceptibility to, 3 | Likely benign (Sep 26, 2024) | ||
12-57748625-G-A | Melanoma, cutaneous malignant, susceptibility to, 3 | Likely benign (Sep 26, 2024) | ||
12-57748625-G-C | Familial melanoma | Likely benign (Apr 27, 2023) | ||
12-57748625-G-T | Familial melanoma | Likely benign (Oct 20, 2023) | ||
12-57748627-G-A | Familial melanoma | Likely benign (Nov 02, 2022) | ||
12-57748629-G-A | Melanoma, cutaneous malignant, susceptibility to, 3 | Likely benign (Sep 26, 2024) | ||
12-57748630-G-A | Familial melanoma | Likely benign (May 19, 2023) | ||
12-57748630-G-C | Familial melanoma | Likely benign (Apr 24, 2023) | ||
12-57748631-C-T | Familial melanoma • Melanoma, cutaneous malignant, susceptibility to, 3 | Likely benign (Sep 26, 2024) | ||
12-57748631-CA-C | Familial melanoma | Likely benign (May 06, 2022) | ||
12-57748632-A-C | Familial melanoma | Likely benign (Jan 29, 2024) | ||
12-57748632-A-T | Familial melanoma | Likely benign (Dec 21, 2023) | ||
12-57748634-A-G | Melanoma, cutaneous malignant, susceptibility to, 3 | Likely benign (Sep 26, 2024) | ||
12-57748636-G-A | Melanoma, cutaneous malignant, susceptibility to, 3 | Likely benign (Sep 26, 2024) | ||
12-57748637-T-A | Melanoma, cutaneous malignant, susceptibility to, 3 | Likely benign (Sep 26, 2024) |
GnomAD
Source:
dbNSFP
Source: