ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q32(chr5:147164969-149315489)x1
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 | |||
SPINK1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
198 | 218 | |
ABLIM3 | - | - |
GRCh38 GRCh37 |
54 | 69 | |
ADRB2 | - | - |
GRCh38 GRCh37 |
31 | 55 | |
AFAP1L1 | - | - |
GRCh38 GRCh37 |
43 | 58 | |
ARHGEF37 | - | - | - |
GRCh38 GRCh37 |
38 | 61 |
C5orf46 | - | - | - |
GRCh38 GRCh37 |
- | 19 |
CSNK1A1 | - | - |
GRCh38 GRCh37 |
2 | 17 | |
FBXO38 | - | - |
GRCh38 GRCh37 |
682 | 699 | |
GRPEL2 | - | - |
GRCh38 GRCh37 |
3 | 26 | |
HTR4 | - | - |
GRCh38 GRCh37 |
26 | 42 |
There are 15 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 17, 2022 | RCV002473891.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022