ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)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 | |||
JAG1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1805 | 1848 | |
ANKEF1 | - | - | - |
GRCh38 GRCh37 |
- | 96 |
BMP2 | - | - |
GRCh38 GRCh37 |
178 | 209 | |
BTBD3 | - | - |
GRCh38 GRCh37 |
10 | 45 | |
CDS2 | - | - |
GRCh38 GRCh37 |
16 | 52 | |
CHGB | - | - |
GRCh38 GRCh37 |
40 | 87 | |
CRLS1 | - | - |
GRCh38 GRCh37 |
25 | 56 | |
FERMT1 | - | - |
GRCh38 GRCh37 |
532 | 568 | |
GPCPD1 | - | - |
GRCh38 GRCh37 |
27 | 61 | |
HAO1 | - | - |
GRCh38 GRCh37 |
37 | 90 |
There are 20 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000446718.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024