ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1
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 | |||
KAT6B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1246 | 1272 | |
NODAL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
144 | 162 | |
NUDT13 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
28 | 45 | |
CTNNA3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
964 | 1033 | |
ADAMTS14 | - | - |
GRCh38 GRCh37 |
118 | 133 | |
ADK | - | - |
GRCh38 GRCh37 |
116 | 152 | |
AGAP5 | - | - | - |
GRCh38 GRCh37 |
26 | 60 |
AIFM2 | - | - |
GRCh38 GRCh37 |
26 | 42 | |
ANAPC16 | - | - |
GRCh38 GRCh37 |
4 | 19 | |
ANXA7 | - | - |
GRCh38 GRCh37 |
31 | 47 |
There are 506 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000136658.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024