ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q22.2-22.3(chr10:75542067-79428995)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 |
1264 | 1290 | |
ADK | - | - |
GRCh38 GRCh37 |
117 | 153 | |
AP3M1 | - | - |
GRCh38 GRCh37 |
17 | 37 | |
C10orf55 | - | - | - |
GRCh38 GRCh37 |
- | 127 |
CAMK2G | - | - |
GRCh38 GRCh37 |
72 | 90 | |
CHCHD1 | - | - |
GRCh38 GRCh37 |
4 | 23 | |
COMTD1 | - | - | - |
GRCh38 GRCh37 |
7 | 40 |
DUSP13B | - | - |
GRCh38 GRCh37 |
28 | 53 | |
DUSP29 | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 44 | |
KCNMA1 | - | - |
GRCh38 GRCh37 |
893 | 1295 |
There are 8 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000447510.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024