ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p15-14(chr2:63234780-67908846)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 | |||
ACTR2 | - | - |
GRCh38 GRCh37 |
8 | 25 | |
AFTPH | - | - |
GRCh38 GRCh37 |
53 | 67 | |
CEP68 | - | - |
GRCh38 GRCh37 |
83 | 98 | |
EHBP1 | - | - |
GRCh38 GRCh37 |
88 | 111 | |
ETAA1 | - | - |
GRCh38 GRCh37 |
52 | 68 | |
LGALSL | - | - |
GRCh38 GRCh37 |
6 | 21 | |
LINC01873 | - | - | - |
GRCh38 GRCh37 |
- | 17 |
MDH1 | - | - |
GRCh38 GRCh37 |
- | 36 | |
MEIS1 | - | - |
GRCh38 GRCh37 |
10 | 28 | |
OTX1 | - | - |
GRCh38 GRCh37 |
12 | 28 |
There are 8 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 22, 2015 | RCV000511763.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024