ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q36.1(chr7:150745923-152373214)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 | |||
KMT2C | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1586 | 1730 | |
PRKAG2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1116 | 1291 | |
ABCF2 | - | - |
GRCh38 GRCh37 |
- | 90 | |
AGAP3 | - | - |
GRCh38 GRCh37 |
51 | 129 | |
ASB10 | - | - |
GRCh38 GRCh37 |
147 | 224 | |
ASIC3 | - | - |
GRCh38 GRCh37 |
63 | 144 | |
CDK5 | - | - |
GRCh38 GRCh37 |
53 | 131 | |
CHPF2 | - | - |
GRCh38 GRCh37 |
63 | 142 | |
CRYGN | - | - |
GRCh38 GRCh37 |
14 | 93 | |
FASTK | - | - |
GRCh38 GRCh37 |
24 | 101 |
There are 11 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 30, 2020 | RCV001801228.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022