ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q26.3(chr15:99155987-101843270)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 | |||
ADAMTS17 | - | - |
GRCh38 GRCh37 |
1209 | 1323 | |
ALDH1A3 | - | - |
GRCh38 GRCh37 |
36 | 226 | |
ALDH1A3-AS1 | - | - | - | GRCh38 | - | 134 |
ASB7 | - | - |
GRCh38 GRCh37 |
14 | 111 | |
CERS3 | - | - |
GRCh38 GRCh37 |
85 | 203 | |
CERS3-AS1 | - | - | - | GRCh38 | - | 48 |
CHSY1 | - | - |
GRCh38 GRCh37 |
190 | 332 | |
GCAWKR | - | - | - | GRCh38 | - | 36 |
LINC02244 | - | - | - | GRCh38 | - | 34 |
LINC02348 | - | - | - | GRCh38 | - | 36 |
There are 119 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
|
Pathogenic (1) |
|
Jan 5, 2011 | RCV000134969.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024