ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3
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 | |||
KCNH2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3198 | 3284 | |
KMT2C | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1602 | 1750 | |
CNTNAP2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1827 | 1988 | |
DPP6 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 |
253 | 302 | |
PRKAG2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1121 | 1297 | |
ABCB8 | - | - |
GRCh38 GRCh37 |
55 | 133 | |
ABCF2 | - | - |
GRCh38 GRCh37 |
- | 91 | |
ABCF2-H2BK1 | - | - | - | GRCh38 | - | 47 |
ACTR3B | - | - | - |
GRCh38 GRCh37 |
10 | 98 |
ACTR3C | - | - | - |
GRCh38 GRCh37 |
21 | 92 |
There are 321 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) |
|
Dec 22, 2010 | RCV000135825.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024