ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)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 | |||
COL3A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3008 | 3134 | |
NCKAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
99 | 126 | |
STAT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
618 | 661 | |
ANKAR | - | - |
GRCh38 GRCh37 |
82 | 132 | |
ASDURF | - | - | GRCh38 | - | 15 | |
ASNSD1 | - | - |
GRCh38 GRCh37 |
32 | 64 | |
C2orf88 | - | - |
GRCh38 GRCh37 |
- | 107 | |
CALCRL | - | - |
GRCh38 GRCh37 |
1 | 49 | |
CALCRL-AS1 | - | - | - | GRCh38 | - | 41 |
CAVIN2 | - | - |
GRCh38 GRCh37 |
27 | 65 |
There are 183 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) |
|
Mar 26, 2012 | RCV000138253.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024