ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q26.3(chr15:99928623-102429112)x3
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 | |||
ADAMTS17 | - | - |
GRCh38 GRCh37 |
1196 | 1309 | |
ALDH1A3 | - | - |
GRCh38 GRCh37 |
35 | 223 | |
ASB7 | - | - |
GRCh38 GRCh37 |
12 | 108 | |
CERS3 | - | - |
GRCh38 GRCh37 |
81 | 198 | |
CHSY1 | - | - |
GRCh38 GRCh37 |
182 | 322 | |
LINS1 | - | - |
GRCh38 GRCh37 |
183 | 281 | |
LRRK1 | - | - |
GRCh38 GRCh37 |
745 | 889 | |
LYSMD4 | - | - | - |
GRCh38 GRCh37 |
17 | 99 |
MEF2A | - | - |
GRCh38 GRCh37 |
41 | 131 | |
OR4F15 | - | - | - |
GRCh38 GRCh37 |
22 | 97 |
There are 6 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 30, 2017 | RCV000683726.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022