ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)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 |
584 | 609 | |
MSX2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
214 | 237 | |
ATP6V0E1 | - | - |
GRCh38 GRCh37 |
- | 27 | |
BNIP1 | - | - |
GRCh38 GRCh37 |
12 | 36 | |
BOD1 | - | - |
GRCh38 GRCh37 |
17 | 39 | |
C5orf47 | - | - |
GRCh38 GRCh37 |
2 | 24 | |
CPEB4 | - | - |
GRCh38 GRCh37 |
11 | 36 | |
CREBRF | - | - |
GRCh38 GRCh37 |
18 | 42 | |
LINC01411 | - | - | - | GRCh38 | - | 9 |
LINC01484 | - | - | - | GRCh38 | - | 7 |
There are 73 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) |
|
Aug 12, 2011 | RCV000052150.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023