ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p15.33-15.31(chr5:2886163-7108295)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 | |||
ADAMTS16 | - | - |
GRCh38 GRCh37 |
89 | 211 | |
ADAMTS16-DT | - | - | - | GRCh38 | - | 48 |
ICE1 | - | - |
GRCh38 GRCh37 |
157 | 269 | |
IRX1 | - | - |
GRCh38 GRCh37 |
53 | 180 | |
LINC01017 | - | - | - | GRCh38 | - | 55 |
LINC01018 | - | - | GRCh38 | - | 44 | |
LINC01019 | - | - | - | GRCh38 | - | 55 |
LINC01020 | - | - | - | GRCh38 | - | 50 |
LINC01377 | - | - | - | GRCh38 | - | 55 |
LINC02063 | - | - | - | GRCh38 | - | 52 |
There are 80 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) |
|
Jun 5, 2011 | RCV000137579.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024