ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)
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 | |||
SETD5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1002 | 1068 | |
SLC6A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
658 | 938 | |
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
817 | 1975 | |
RPL15 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 155 | |
CNTN4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
266 | 498 | |
CNTN6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
227 | 374 | |
RAF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1069 | 1123 | |
TBC1D5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
35 | 60 | |
TMEM43 | No evidence available | No evidence available |
GRCh38 GRCh37 |
943 | 986 | |
ANKRD28 | - | - |
GRCh38 GRCh37 |
12 | 84 |
There are 104 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 1, 2022 | RCV002053299.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023