ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1
Germline
Classification
(1)
Likely 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 | |
B3GNT2 | - | - |
GRCh38 GRCh37 |
18 | 39 | |
CCT4 | - | - |
GRCh38 GRCh37 |
27 | 52 | |
CEP68 | - | - |
GRCh38 GRCh37 |
83 | 98 | |
COMMD1 | - | - |
GRCh38 GRCh37 |
9 | 40 | |
EHBP1 | - | - |
GRCh38 GRCh37 |
88 | 111 | |
FAM161A | - | - |
GRCh38 GRCh37 |
766 | 856 | |
LGALSL | - | - |
GRCh38 GRCh37 |
6 | 21 | |
MDH1 | - | - |
GRCh38 GRCh37 |
- | 36 |
There are 11 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 22, 2014 | RCV000511169.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024