ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3
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 | |||
AAGAB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
70 | 106 | |
RPS17 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
20 | 46 | |
SIN3A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
494 | 534 | |
SMAD3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1025 | 1089 | |
ZNF592 | No evidence available | No evidence available |
GRCh38 GRCh37 |
103 | 157 | |
ABHD17C | - | - |
GRCh38 GRCh37 |
7 | 37 | |
ABHD2 | - | - |
GRCh38 GRCh37 |
19 | 57 | |
ACAN | - | - |
GRCh38 GRCh37 |
1102 | 1135 | |
ACSBG1 | - | - |
GRCh38 GRCh37 |
45 | 80 | |
ADAMTS7 | - | - |
GRCh38 GRCh37 |
177 | 200 |
There are 201 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) |
|
Feb 1, 2023 | RCV003222839.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024