ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
SPINK1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
198 | 219 | |
PCDHGA8 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
- | 563 | |
ABLIM3 | - | - |
GRCh38 GRCh37 |
54 | 69 | |
ADRB2 | - | - |
GRCh38 GRCh37 |
31 | 55 | |
AFAP1L1 | - | - |
GRCh38 GRCh37 |
43 | 58 | |
ARAP3 | - | - |
GRCh38 GRCh37 |
106 | 125 | |
ARHGAP26 | - | - |
GRCh38 GRCh37 |
51 | 70 | |
ARHGEF37 | - | - | - |
GRCh38 GRCh37 |
38 | 61 |
C5orf46 | - | - | - |
GRCh38 GRCh37 |
- | 20 |
CSNK1A1 | - | - |
GRCh38 GRCh37 |
2 | 17 |
There are 84 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 19, 2018 | RCV000848228.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022