ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)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 | |
HOXD13 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
120 | 152 | |
NCKAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
99 | 126 | |
TTN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11721 | 31198 | |
EVX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
40 | 69 | |
HOXD9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
27 | 58 | |
STAT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
618 | 661 | |
AGPS | - | - |
GRCh38 GRCh37 |
653 | 772 | |
ANKAR | - | - |
GRCh38 GRCh37 |
82 | 132 | |
ASNSD1 | - | - |
GRCh38 GRCh37 |
32 | 64 |
There are 78 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 4, 2018 | RCV001005359.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023