ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)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 | |||
ABCA10 | - | - |
GRCh38 GRCh37 |
92 | 108 | |
ABCA5 | - | - |
GRCh38 GRCh37 |
142 | 156 | |
ABCA6 | - | - |
GRCh38 GRCh37 |
102 | 119 | |
ABCA8 | - | - |
GRCh38 GRCh37 |
102 | 116 | |
ABCA9 | - | - |
GRCh38 GRCh37 |
87 | 114 | |
ABCA9-AS1 | - | - | - | GRCh38 | - | 14 |
ARSG | - | - |
GRCh38 GRCh37 |
315 | 464 | |
CASC17 | - | - | - | GRCh38 | - | 7 |
FAM20A | - | - |
GRCh38 GRCh37 |
97 | 246 | |
KCNJ16 | - | - |
GRCh38 GRCh37 |
30 | 49 |
There are 51 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 14, 2012 | RCV000143113.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024