ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)
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 | |||
TRIP12 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
380 | 434 | |
GIGYF2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
135 | 398 | |
DIS3L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2268 | 2312 | |
SPP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
182 | 227 | |
ALPG | - | - |
GRCh38 GRCh37 |
29 | 100 | |
ALPI | - | - |
GRCh38 GRCh37 |
61 | 100 | |
ALPP | - | - |
GRCh38 GRCh37 |
65 | 104 | |
ARL4C | - | - |
GRCh38 GRCh37 |
5 | 51 | |
ARMC9 | - | - |
GRCh38 GRCh37 |
611 | 677 | |
ATG16L1 | - | - |
GRCh38 GRCh38 GRCh37 |
30 | 72 |
There are 53 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 1, 2022 | RCV002053291.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022