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 |
1288 | 1314 | |
NUDT13 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
29 | 46 | |
ADK | - | - |
GRCh38 GRCh37 |
119 | 155 | |
AGAP5 | - | - | - |
GRCh38 GRCh37 |
29 | 66 |
ANXA7 | - | - |
GRCh38 GRCh37 |
37 | 53 | |
AP3M1 | - | - |
GRCh38 GRCh37 |
17 | 37 | |
C10orf55 | - | - | - |
GRCh38 GRCh37 |
- | 131 |
CAMK2G | - | - |
GRCh38 GRCh37 |
73 | 91 | |
CFAP70 | - | - |
GRCh38 GRCh37 |
38 | 61 | |
CHCHD1 | - | - |
GRCh38 GRCh37 |
4 | 23 |
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 |
---|---|---|---|---|
See cases
|
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