ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)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 | |||
FH | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1982 | 2068 | |
AKT3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
176 | 349 | |
CHRM3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
76 | 147 | |
DISC1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
8 | 167 | |
RYR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
7407 | 8053 | |
ACTN2 | - | - |
GRCh38 GRCh37 |
1483 | 1548 | |
AGT | - | - |
GRCh38 GRCh37 |
184 | 230 | |
ARID4B | - | - |
GRCh38 GRCh37 |
56 | 113 | |
ARV1 | - | - |
GRCh38 GRCh37 |
41 | 100 | |
B3GALNT2 | - | - |
GRCh38 GRCh38 GRCh37 |
443 | 666 |
There are 370 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) |
|
Aug 12, 2011 | RCV000051082.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024