ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)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 | |||
MYLK | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1763 | 2093 | |
ARHGAP31 | No evidence available | No evidence available |
GRCh38 GRCh37 |
452 | 473 | |
CASR | No evidence available | No evidence available |
GRCh38 GRCh37 |
2693 | 2716 | |
ADCY5 | - | - |
GRCh38 GRCh37 |
742 | 769 | |
ADPRH | - | - |
GRCh38 GRCh37 |
12 | 35 | |
ARGFX | - | - |
GRCh38 GRCh37 |
20 | 36 | |
ARHGAP31-AS1 | - | - | - | GRCh38 | - | 12 |
B4GALT4 | - | - |
GRCh38 GRCh37 |
8 | 30 | |
B4GALT4-AS1 | - | - | - | GRCh38 | - | 15 |
CCDC14 | - | - |
GRCh38 GRCh37 |
42 | 66 |
There are 283 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 | RCV000051546.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023