ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q31.21(chr4:143738209-145870474)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 | |||
ABCE1 | - | - |
GRCh38 GRCh37 |
12 | 42 | |
ANAPC10 | - | - |
GRCh38 GRCh37 |
10 | 42 | |
C4orf51 | - | - | - |
GRCh38 GRCh37 |
1 | 42 |
GYPA | - | - |
GRCh38 GRCh37 |
12 | 43 | |
GYPB | - | - |
GRCh38 GRCh37 |
5 | 35 | |
GYPE | - | - |
GRCh38 GRCh37 |
7 | 40 | |
HHIP | - | - |
GRCh38 GRCh37 |
34 | 65 | |
HHIP-AS1 | - | - | - | GRCh38 | - | 11 |
LINC02266 | - | - | - | GRCh38 | - | 12 |
LINC02491 | - | - | - | GRCh38 | - | 11 |
There are 34 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2010 | RCV000136753.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024