ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
NKX2-5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
597 | 619 | |
MSX2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
218 | 238 | |
ARL10 | - | - | - |
GRCh38 GRCh37 |
11 | 85 |
ATP6V0E1 | - | - |
GRCh38 GRCh37 |
- | 24 | |
BNIP1 | - | - |
GRCh38 GRCh37 |
16 | 37 | |
BOD1 | - | - |
GRCh38 GRCh37 |
17 | 36 | |
C5orf47 | - | - |
GRCh38 GRCh37 |
2 | 21 | |
CDHR2 | - | - |
GRCh38 GRCh37 |
91 | 147 | |
CLTB | - | - |
GRCh38 GRCh37 |
- | 55 | |
CPEB4 | - | - |
GRCh38 GRCh37 |
13 | 37 |
There are 29 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) |
|
Feb 14, 2023 | RCV003485492.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024