ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)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 | |
SATB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
621 | 797 | |
STAT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
618 | 661 | |
ANKAR | - | - |
GRCh38 GRCh37 |
82 | 132 | |
ANKRD44 | - | - | - |
GRCh38 GRCh37 |
51 | 90 |
ANKRD44-AS1 | - | - | - | GRCh38 | - | 13 |
ANKRD44-IT1 | - | - | - | GRCh38 | - | 13 |
AOX1 | - | - |
GRCh38 GRCh37 |
56 | 92 | |
ASDURF | - | - | GRCh38 | - | 15 | |
ASNSD1 | - | - |
GRCh38 GRCh37 |
32 | 64 |
There are 321 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) |
|
Oct 20, 2010 | RCV000135876.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024