ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
2994 | 3119 | |
NCKAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
92 | 119 | |
SATB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
618 | 792 | |
TTN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11689 | 31012 | |
CASP10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
507 | 541 | |
STAT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
617 | 660 | |
AGPS | - | - |
GRCh38 GRCh37 |
650 | 768 | |
ALS2 | - | - |
GRCh38 GRCh37 |
984 | 1028 | |
ANKAR | - | - |
GRCh38 GRCh37 |
68 | 115 | |
ANKRD44 | - | - | - |
GRCh38 GRCh37 |
43 | 81 |
There are 583 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) |
|
Aug 12, 2011 | RCV000052558.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023