ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3
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 | |||
CARD14 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
721 | 1178 | |
AATK | - | - |
GRCh38 GRCh37 |
140 | 162 | |
ACTG1 | - | - |
GRCh38 GRCh38 GRCh37 |
545 | 597 | |
ALYREF | - | - |
GRCh38 GRCh37 |
1 | 30 | |
ANAPC11 | - | - |
GRCh38 GRCh37 |
7 | 36 | |
ARHGDIA | - | - |
GRCh38 GRCh37 |
33 | 83 | |
ARL16 | - | - |
GRCh38 GRCh37 |
12 | 43 | |
ASPSCR1 | - | - |
GRCh38 GRCh37 |
50 | 77 | |
B3GNTL1 | - | - |
GRCh38 GRCh38 GRCh37 |
36 | 111 | |
BAHCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
14 | 34 |
There are 377 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052497.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023