ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1
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 | |||
PHIP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
513 | 984 | |
BCKDHB | - | - |
GRCh38 GRCh37 |
780 | 800 | |
CD109 | - | - |
GRCh38 GRCh37 |
117 | 130 | |
CGAS | - | - |
GRCh38 GRCh37 |
31 | 56 | |
COL12A1 | - | - |
GRCh38 GRCh37 |
3025 | 3126 | |
COX7A2 | - | - |
GRCh38 GRCh37 |
5 | 23 | |
CYB5R4 | - | - |
GRCh38 GRCh37 |
- | 58 | |
DDX43 | - | - |
GRCh38 GRCh37 |
33 | 54 | |
DOP1A | - | - |
GRCh38 GRCh37 |
79 | 193 | |
DPPA5 | - | - |
GRCh38 GRCh37 |
5 | 19 |
There are 32 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 2, 2018 | RCV000682681.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024