ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)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 |
596 | 618 | |
NSD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1674 | 1787 | |
FBXW11 | No evidence available | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
58 | 78 | |
GABRA1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
651 | 684 | |
GABRG2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
663 | 695 | |
MSX2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
217 | 237 | |
TLX3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
10 | 27 | |
ADAM19 | - | - |
GRCh38 GRCh37 |
70 | 90 | |
ADAMTS2 | - | - |
GRCh38 GRCh38 GRCh37 |
1750 | 1805 |
There are 855 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) |
|
Dec 30, 2009 | RCV000133847.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024