ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)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 | |||
TRIP12 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
382 | 436 | |
DIS3L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2280 | 2325 | |
GIGYF2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
135 | 398 | |
HDAC4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
496 | 604 | |
KIF1A | No evidence available | No evidence available |
GRCh38 GRCh37 |
2855 | 3061 | |
SPP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
183 | 230 | |
ACKR3 | - | - |
GRCh38 GRCh37 |
21 | 104 | |
AGAP1 | - | - |
GRCh38 GRCh37 |
260 | 350 | |
AGAP1-IT1 | - | - | - | GRCh38 | - | 23 |
AGXT | - | - |
GRCh38 GRCh37 |
897 | 1015 |
There are 622 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 | RCV000052973.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 20, 2023