ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)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 | |||
AAK1 | - | - |
GRCh38 GRCh37 |
29 | 51 | |
ACTR2 | - | - |
GRCh38 GRCh37 |
8 | 25 | |
AFTPH | - | - |
GRCh38 GRCh37 |
53 | 67 | |
ANTXR1 | - | - |
GRCh38 GRCh37 |
153 | 166 | |
ANXA4 | - | - |
GRCh38 GRCh37 |
22 | 37 | |
APLF | - | - |
GRCh38 GRCh37 |
30 | 47 | |
ARHGAP25 | - | - |
GRCh38 GRCh37 |
28 | 42 | |
BMP10 | - | - |
GRCh38 GRCh37 |
22 | 34 | |
C1D | - | - |
GRCh38 GRCh37 |
6 | 18 | |
CEP68 | - | - |
GRCh38 GRCh37 |
83 | 98 |
There are 208 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Sep 27, 2013 | RCV000140691.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024