ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)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 | |||
ADAM10 | - | - |
GRCh38 GRCh37 |
70 | 95 | |
ALDH1A2 | - | - |
GRCh38 GRCh37 |
58 | 80 | |
ANXA2 | - | - |
GRCh38 GRCh37 |
8 | 27 | |
AQP9 | - | - |
GRCh38 GRCh37 |
19 | 38 | |
BNIP2 | - | - |
GRCh38 GRCh37 |
22 | 41 | |
CCNB2 | - | - |
GRCh38 GRCh37 |
27 | 44 | |
FAM81A | - | - | - |
GRCh38 GRCh37 |
11 | 28 |
FOXB1 | - | - |
GRCh38 GRCh37 |
16 | 32 | |
GCNT3 | - | - |
GRCh38 GRCh37 |
35 | 54 | |
GTF2A2 | - | - |
GRCh38 GRCh37 |
2 | 22 |
There are 9 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) |
|
May 5, 2014 | RCV000510898.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024