ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)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 | |||
CUL3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
426 | 468 | |
PAX3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
287 | 377 | |
TRIP12 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
378 | 432 | |
DIS3L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2267 | 2311 | |
GIGYF2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
135 | 398 | |
HDAC4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
492 | 599 | |
KIF1A | No evidence available | No evidence available |
GRCh38 GRCh37 |
2849 | 3052 | |
SPP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
182 | 227 | |
AAMP | - | - |
GRCh38 GRCh37 |
12 | 41 | |
ABCB6 | - | - |
GRCh38 GRCh37 |
184 | 218 |
There are 200 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) |
|
Jul 28, 2022 | RCV003484087.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024