ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)
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 | |||
BAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2777 | 2793 | |
SETD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1072 | 1104 | |
TDGF1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 3 | |
MYL3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
415 | 426 | |
ABHD14A | - | - |
GRCh38 GRCh37 |
- | 34 | |
ABHD14B | - | - | - |
GRCh38 GRCh37 |
15 | 23 |
ACY1 | - | - |
GRCh38 GRCh37 |
1 | 160 | |
ALAS1 | - | - |
GRCh38 GRCh37 |
32 | 44 | |
ALS2CL | - | - |
GRCh38 GRCh37 |
64 | 72 | |
AMIGO3 | - | - |
GRCh38 GRCh37 |
- | 42 |
There are 169 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) |
|
Nov 1, 2018 | RCV000767704.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023