ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1
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 | |||
BPTF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
670 | 718 | |
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 |
AMZ2 | - | - |
GRCh38 GRCh37 |
29 | 42 | |
ARSG | - | - |
GRCh38 GRCh37 |
315 | 464 | |
C17orf58 | - | - | - |
GRCh38 GRCh37 |
- | 16 |
There are 77 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053452.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024