ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)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 |
3188 | 3271 | |
KMT2C | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1586 | 1730 | |
BRAF | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1230 | 1339 | |
CNTNAP2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1819 | 1979 | |
DPP6 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 |
249 | 298 | |
UBN2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
83 | 141 | |
PRKAG2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1116 | 1291 | |
PRSS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2 | 793 | |
ABCB8 | - | - |
GRCh38 GRCh37 |
55 | 132 | |
ABCF2 | - | - |
GRCh38 GRCh37 |
- | 90 |
There are 684 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) |
|
Dec 22, 2010 | RCV000136592.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024