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 |
1232 | 1257 | |
NODAL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
143 | 161 | |
NUDT13 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
23 | 40 | |
CTNNA3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
933 | 998 | |
ADAMTS14 | - | - |
GRCh38 GRCh37 |
88 | 103 | |
ADK | - | - |
GRCh38 GRCh37 |
113 | 148 | |
AGAP5 | - | - | - |
GRCh38 GRCh37 |
17 | 45 |
AIFM2 | - | - |
GRCh38 GRCh37 |
15 | 31 | |
ANAPC16 | - | - |
GRCh38 GRCh37 |
3 | 18 | |
ANXA7 | - | - |
GRCh38 GRCh37 |
26 | 42 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000136658.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023