ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)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 | |||
CLTC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
759 | 899 | |
NOG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
180 | 194 | |
RAD51C | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1857 | 2066 | |
PPM1D | No evidence available | No evidence available |
GRCh38 GRCh37 |
271 | 305 | |
AKAP1 | - | - |
GRCh38 GRCh37 |
77 | 92 | |
ANKFN1 | - | - | - |
GRCh38 GRCh37 |
46 | 58 |
APPBP2 | - | - |
GRCh38 GRCh37 |
10 | 36 | |
C17orf47 | - | - | - |
GRCh38 GRCh37 |
- | 18 |
C17orf67 | - | - | - |
GRCh38 GRCh37 |
1 | 15 |
CA10 | - | - |
GRCh38 GRCh37 |
18 | 31 |
There are 57 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000448805.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024