ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.3-12(chr17:525-11186432)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 | |||
DLG4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
145 | 310 | |
PAFAH1B1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
528 | 613 | |
TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3323 | 3421 | |
KDM6B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
431 | 535 | |
MYH10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
146 | 177 | |
ABR | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
48 | 177 | |
PITPNA | No evidence available | No evidence available |
GRCh38 GRCh37 |
6 | 112 | |
YWHAE | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
69 | 209 | |
ACADVL | - | - |
GRCh38 GRCh37 |
1717 | 1925 | |
ACAP1 | - | - |
GRCh38 GRCh38 GRCh37 |
41 | 77 |
There are 232 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) |
|
Oct 2, 2017 | RCV000683866.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023