ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
BARD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3883 | 3937 | |
BMPR2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1066 | 1129 | |
SATB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
618 | 792 | |
CASP10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
507 | 541 | |
CRYGC | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 109 | |
ABCA12 | - | - |
GRCh38 GRCh37 |
1070 | 1472 | |
ABI2 | - | - |
GRCh38 GRCh37 |
9 | 39 | |
ACADL | - | - |
GRCh38 GRCh37 |
44 | 71 | |
ADAM23 | - | - |
GRCh38 GRCh37 |
36 | 66 | |
ALS2 | - | - |
GRCh38 GRCh37 |
984 | 1028 |
There are 501 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) |
|
Jan 14, 2013 | RCV000141254.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023