ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)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 | |||
DISC1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
8 | 167 | |
RYR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
7383 | 8023 | |
ACTN2 | - | - |
GRCh38 GRCh37 |
1479 | 1539 | |
AGT | - | - |
GRCh38 GRCh37 |
184 | 230 | |
ARID4B | - | - |
GRCh38 GRCh37 |
56 | 110 | |
ARV1 | - | - |
GRCh38 GRCh37 |
41 | 100 | |
B3GALNT2 | - | - |
GRCh38 GRCh38 GRCh37 |
440 | 658 | |
C1orf131 | - | - | - |
GRCh38 GRCh37 |
2 | 52 |
C1orf198 | - | - | - |
GRCh38 GRCh37 |
4 | 51 |
CAPN9 | - | - |
GRCh38 GRCh37 |
58 | 106 |
There are 37 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) |
|
Jul 18, 2022 | RCV003484077.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024