ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |
ALDH1A2-AS1 | - | - | - | GRCh38 | - | 8 |
ANXA2 | - | - |
GRCh38 GRCh37 |
8 | 27 | |
AQP9 | - | - |
GRCh38 GRCh37 |
19 | 38 | |
BNIP2 | - | - |
GRCh38 GRCh37 |
22 | 41 | |
CCNB2 | - | - |
GRCh38 GRCh37 |
27 | 44 | |
CGNL1 | - | - |
GRCh38 GRCh37 |
156 | 175 | |
FAM81A | - | - | - |
GRCh38 GRCh37 |
11 | 28 |
FOXB1 | - | - |
GRCh38 GRCh37 |
16 | 32 |
There are 132 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) |
|
Aug 12, 2011 | RCV000050884.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024