ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.1-12(chr17:10334509-10900316)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 | |||
ADPRM | - | - | - |
GRCh38 GRCh37 |
15 | 37 |
LOC112529895 | - | - | - | GRCh38 | - | 54 |
LOC121852923 | - | - | - | GRCh38 | - | 7 |
LOC125177419 | - | - | - | GRCh38 | - | 7 |
LOC126862493 | - | - | - | GRCh38 | - | 39 |
LOC126862494 | - | - | - | GRCh38 | - | 52 |
LOC126862495 | - | - | - | GRCh38 | - | 24 |
LOC126862496 | - | - | - | GRCh38 | - | 18 |
LOC126862497 | - | - | - | GRCh38 | - | 16 |
LOC126862498 | - | - | - | GRCh38 | - | 21 |
There are 17 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) |
|
Sep 21, 2012 | RCV000139368.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024