MIR6766
Basic information
Region (hg38): 15:89326739-89326810
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 MIR6766 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 MIR6766
This is a list of pathogenic ClinVar variants found in the MIR6766 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
15-89326742-TG-T | not specified • Progressive sclerosing poliodystrophy • Hereditary spastic paraplegia • 6 conditions • Inborn genetic diseases | Benign/Likely benign (Feb 01, 2024) | ||
15-89326743-G-A | Progressive sclerosing poliodystrophy • POLG-related disorder | Likely benign (Jan 31, 2024) | ||
15-89326743-G-C | Progressive sclerosing poliodystrophy | Likely benign (Oct 15, 2023) | ||
15-89326744-A-T | Progressive sclerosing poliodystrophy | Likely benign (Jul 19, 2023) | ||
15-89326746-G-T | Progressive sclerosing poliodystrophy | Likely benign (Oct 24, 2023) | ||
15-89326747-G-A | Progressive sclerosing poliodystrophy | Likely benign (Aug 02, 2023) | ||
15-89326748-T-C | Progressive sclerosing poliodystrophy | Likely benign (Jan 14, 2024) | ||
15-89326748-T-G | Progressive sclerosing poliodystrophy | Likely benign (Jan 31, 2024) | ||
15-89326749-G-A | Progressive sclerosing poliodystrophy | Likely benign (Dec 09, 2023) | ||
15-89326749-G-C | Progressive sclerosing poliodystrophy | Likely benign (Jul 21, 2021) | ||
15-89326749-G-T | Progressive sclerosing poliodystrophy | Likely benign (Jul 04, 2021) | ||
15-89326752-G-A | Progressive sclerosing poliodystrophy | Likely benign (Aug 28, 2023) | ||
15-89326754-A-G | Progressive sclerosing poliodystrophy | Likely benign (Aug 20, 2022) | ||
15-89326756-G-A | Progressive sclerosing poliodystrophy | Likely benign (Apr 06, 2023) | ||
15-89326758-C-T | Progressive sclerosing poliodystrophy | Likely benign (Dec 22, 2023) | ||
15-89326759-A-C | Progressive sclerosing poliodystrophy | Likely benign (Oct 01, 2018) | ||
15-89326768-CAGG-C | Progressive sclerosing poliodystrophy | Likely benign (Oct 01, 2018) |
GnomAD
Source:
dbNSFP
Source: