ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)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 | |||
GUCA1C | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
16 | 41 | |
ARHGAP31 | No evidence available | No evidence available |
GRCh38 GRCh37 |
451 | 472 | |
CASR | No evidence available | No evidence available |
GRCh38 GRCh37 |
2692 | 2715 | |
ABHD10 | - | - |
GRCh38 GRCh37 |
16 | 33 | |
ABI3BP | - | - |
GRCh38 GRCh37 |
62 | 75 | |
ADGRG7 | - | - |
GRCh38 GRCh37 |
63 | 78 | |
ADPRH | - | - |
GRCh38 GRCh37 |
12 | 35 | |
ALCAM | - | - |
GRCh38 GRCh37 |
40 | 55 | |
ARGFX | - | - |
GRCh38 GRCh37 |
20 | 36 | |
ARHGAP31-AS1 | - | - | - | GRCh38 | - | 12 |
There are 629 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051543.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023