ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)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 | |||
BMPR2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1066 | 1132 | |
SATB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
616 | 791 | |
CASP10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
507 | 543 | |
ABI2 | - | - |
GRCh38 GRCh37 |
9 | 40 | |
ALS2 | - | - |
GRCh38 GRCh37 |
984 | 1029 | |
ANKRD44 | - | - | - |
GRCh38 GRCh37 |
42 | 82 |
ANKRD44-AS1 | - | - | - | GRCh38 | - | 13 |
ANKRD44-IT1 | - | - | - | GRCh38 | - | 13 |
AOX1 | - | - |
GRCh38 GRCh37 |
51 | 88 | |
BOLL | - | - |
GRCh38 GRCh37 |
10 | 48 |
There are 271 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) |
|
Nov 30, 2010 | RCV000135341.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023