ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3
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 | |||
CARD14 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
721 | 1178 | |
AANAT | - | - |
GRCh38 GRCh37 |
27 | 41 | |
ACOX1 | - | - |
GRCh38 GRCh37 |
822 | 849 | |
AFMID | - | - | - |
GRCh38 GRCh37 |
28 | 43 |
BIRC5 | - | - |
GRCh38 GRCh37 |
19 | 35 | |
C17orf99 | - | - | - |
GRCh38 GRCh37 |
1 | 15 |
C1QTNF1 | - | - |
GRCh38 GRCh37 |
11 | 51 | |
CANT1 | - | - |
GRCh38 GRCh37 |
403 | 438 | |
CASKIN2 | - | - |
GRCh38 GRCh37 |
130 | 151 | |
CBX2 | - | - |
GRCh38 GRCh37 |
121 | 149 |
There are 76 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) |
|
Jun 21, 2018 | RCV001006919.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023