ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)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 | |||
DDX41 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
530 | 596 | |
NKX2-5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
597 | 619 | |
NSD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1677 | 1790 | |
MSX2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
218 | 238 | |
ADAMTS2 | - | - |
GRCh38 GRCh38 GRCh37 |
1751 | 1806 | |
ARL10 | - | - | - |
GRCh38 GRCh37 |
11 | 85 |
ATP6V0E1 | - | - |
GRCh38 GRCh37 |
- | 24 | |
B4GALT7 | - | - |
GRCh38 GRCh37 |
324 | 414 | |
BNIP1 | - | - |
GRCh38 GRCh37 |
16 | 37 | |
BOD1 | - | - |
GRCh38 GRCh37 |
17 | 36 |
There are 98 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) |
|
Sep 30, 2014 | RCV000512068.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024