ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3
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 | 606 | |
FBXW11 | No evidence available | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
54 | 74 | |
GABRA1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
651 | 684 | |
GABRG2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
662 | 694 | |
TLX3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
8 | 25 | |
ADAM19 | - | - |
GRCh38 GRCh37 |
53 | 73 | |
ADRA1B | - | - |
GRCh38 GRCh37 |
23 | 42 | |
ANXA6 | - | - |
GRCh38 GRCh37 |
44 | 56 | |
ATOX1 | - | - |
GRCh38 GRCh37 |
1 | 14 | |
ATP10B | - | - |
GRCh38 GRCh37 |
71 | 104 |
There are 90 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 16, 2022 | RCV002474507.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023