ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)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 |
717 | 1170 | |
AANAT | - | - |
GRCh38 GRCh37 |
25 | 39 | |
AATK | - | - |
GRCh38 GRCh37 |
123 | 144 | |
ACOX1 | - | - |
GRCh38 GRCh37 |
814 | 839 | |
ACTG1 | - | - |
GRCh38 GRCh38 GRCh37 |
529 | 578 | |
AFMID | - | - | - |
GRCh38 GRCh37 |
28 | 42 |
ALYREF | - | - |
GRCh38 GRCh37 |
- | 27 | |
ANAPC11 | - | - |
GRCh38 GRCh37 |
4 | 31 | |
ARHGDIA | - | - |
GRCh38 GRCh37 |
32 | 79 | |
ARL16 | - | - |
GRCh38 GRCh37 |
12 | 41 |
There are 138 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 1, 2022 | RCV002276051.12 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024