ClinVar Genomic variation as it relates to human health
NC_000002.11:g.38121110_47669522inv
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 | |||
MSH2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7402 | 7564 | |
SIX3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
195 | 222 | |
CALM2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
182 | 208 | |
DHX57 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
108 | 134 |
SOS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1661 | 1764 | |
TMEM178A | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
15 | 39 |
ABCG5 | - | - |
GRCh38 GRCh37 |
181 | 744 | |
ABCG8 | - | - |
GRCh38 GRCh37 |
744 | 810 | |
ARHGEF33 | - | - | - |
GRCh38 GRCh37 |
42 | 81 |
ATL2 | - | - |
GRCh38 GRCh37 |
33 | 63 |
There are 44 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) |
|
Nov 24, 2021 | RCV002231155.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 27, 2024