ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)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 | |||
MLH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5531 | 5586 | |
SCN5A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3557 | 3958 | |
TGFBR2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1068 | 1093 | |
RPL15 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 152 | |
SLC22A14 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
25 | 42 | |
RAF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1060 | 1114 | |
TBC1D5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
28 | 53 | |
TMEM43 | No evidence available | No evidence available |
GRCh38 GRCh37 |
876 | 919 | |
ACAA1 | - | - |
GRCh38 GRCh37 |
23 | 41 | |
ACVR2B | - | - |
GRCh38 GRCh37 |
334 | 365 |
There are 722 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051720.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023