ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)
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 | |||
CUL3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
429 | 471 | |
PAX3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
290 | 382 | |
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 | |
SPP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
183 | 230 | |
ABCB6 | - | - |
GRCh38 GRCh37 |
184 | 218 | |
ACKR3 | - | - |
GRCh38 GRCh37 |
21 | 104 | |
ACSL3 | - | - |
GRCh38 GRCh37 |
20 | 55 | |
AGAP1 | - | - |
GRCh38 GRCh37 |
260 | 350 |
There are 139 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 | RCV002053285.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022