ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
EYA4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
570 | 951 | |
NUS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
374 | 410 | |
PHIP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
406 | 793 | |
CITED2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
37 | 70 | |
BCLAF1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
56 | 74 | |
ZNF292 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
436 | 473 | |
GJA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
287 | 311 | |
SIM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
184 | 266 | |
ABRACL | - | - | - |
GRCh38 GRCh37 |
4 | 19 |
AFG1L | - | - |
GRCh38 GRCh37 |
11 | 34 |
There are 1441 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 5, 2011 | RCV000139729.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 20, 2023