ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1
Germline
Classification
(2)
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 | |||
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 | |
MNX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
231 | 400 | |
SHH | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
332 | 569 | |
RNF32 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
8 | 112 | |
DNAJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
439 | 530 | |
EN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
30 | 113 | |
PRKAG2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1116 | 1291 | |
ABCB8 | - | - |
GRCh38 GRCh37 |
55 | 132 | |
ABCF2 | - | - |
GRCh38 GRCh37 |
- | 90 |
There are 57 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) |
|
Feb 2, 2022 | RCV002279756.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022