ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)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 | |||
AAGAB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
68 | 104 | |
SMAD3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1022 | 1085 | |
ANP32A | - | - |
GRCh38 GRCh37 |
5 | 20 | |
C15orf61 | - | - | - |
GRCh38 GRCh37 |
- | 18 |
CALML4 | - | - | - |
GRCh38 GRCh37 |
8 | 24 |
CLN6 | - | - |
GRCh38 GRCh37 |
759 | 775 | |
CORO2B | - | - |
GRCh38 GRCh37 |
21 | 38 | |
FEM1B | - | - |
GRCh38 GRCh37 |
11 | 27 | |
GLCE | - | - |
GRCh38 GRCh37 |
13 | 30 | |
IQCH | - | - |
GRCh38 GRCh37 |
28 | 67 |
There are 11 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) |
|
Mar 7, 2018 | RCV000846047.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023