ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)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 | |||
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 | |
DLX1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
8 | 31 | |
DLX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
19 | 41 | |
EVX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
40 | 69 | |
HOXD9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
27 | 58 | |
SLC25A12 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
486 | 512 | |
AGPS | - | - |
GRCh38 GRCh37 |
653 | 772 | |
ATF2 | - | - |
GRCh38 GRCh37 |
21 | 55 |
There are 403 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 | RCV000054127.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024