ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q24.1-24.2(chr17:64634771-67686888)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 | |||
AXIN2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3688 | 3702 | |
APOH | - | - |
GRCh38 GRCh37 |
29 | 44 | |
CACNG1 | - | - |
GRCh38 GRCh37 |
16 | 29 | |
CACNG4 | - | - |
GRCh38 GRCh37 |
19 | 31 | |
CACNG5 | - | - |
GRCh38 GRCh37 |
26 | 38 | |
CEP112 | - | - |
GRCh38 GRCh37 |
77 | 93 | |
GNA13 | - | - |
GRCh38 GRCh37 |
14 | 26 | |
HELZ | - | - |
GRCh38 GRCh37 |
84 | 103 | |
HELZ-AS1 | - | - | - | GRCh38 | - | 3 |
LINC02563 | - | - | - | GRCh38 | - | 4 |
There are 101 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) |
|
Dec 17, 2012 | RCV000140815.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024