ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)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 | |||
CTNNA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2822 | 2878 | |
POU4F3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1 | 190 | |
PURA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
464 | 521 | |
SPINK1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
198 | 218 | |
TCOF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
785 | 823 | |
CAMK2A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
110 | 122 | |
PCDHGA8 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
- | 560 | |
TIGD6 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
35 | 49 |
ABLIM3 | - | - |
GRCh38 GRCh37 |
54 | 69 | |
ACSL6 | - | - |
GRCh38 GRCh37 |
30 | 48 |
There are 1210 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051193.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024