ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)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 | |||
KAT6B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1239 | 1264 | |
NUDT13 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
28 | 45 | |
ADK | - | - |
GRCh38 GRCh37 |
115 | 151 | |
AGAP5 | - | - | - |
GRCh38 GRCh37 |
26 | 60 |
ANXA7 | - | - |
GRCh38 GRCh37 |
31 | 47 | |
AP3M1 | - | - |
GRCh38 GRCh37 |
17 | 37 | |
C10orf55 | - | - | - |
GRCh38 GRCh37 |
- | 123 |
CAMK2G | - | - |
GRCh38 GRCh37 |
67 | 85 | |
CFAP70 | - | - |
GRCh38 GRCh37 |
33 | 56 | |
CHCHD1 | - | - |
GRCh38 GRCh37 |
4 | 22 |
There are 142 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 | RCV000052531.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023