ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)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 | |||
ACVRL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
987 | 998 | |
SCN8A | No evidence available | No evidence available |
GRCh38 GRCh37 |
1962 | 2057 | |
ACVR1B | - | - |
GRCh38 GRCh37 |
15 | 25 | |
ANKRD33 | - | - | - |
GRCh38 GRCh37 |
20 | 30 |
ATF1 | - | - |
GRCh38 GRCh37 |
12 | 22 | |
ATG101 | - | - |
GRCh38 GRCh37 |
11 | 18 | |
BIN2 | - | - |
GRCh38 GRCh37 |
19 | 27 | |
CELA1 | - | - |
GRCh38 GRCh37 |
16 | 24 | |
CERS5 | - | - |
GRCh38 GRCh37 |
14 | 23 | |
CSAD | - | - |
GRCh38 GRCh37 |
27 | 38 |
There are 198 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) |
|
Jul 18, 2014 | RCV000142033.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023