ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)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 | |||
CUL3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
438 | 480 | |
PAX3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
295 | 388 | |
AAMP | - | - |
GRCh38 GRCh37 |
13 | 42 | |
ABCB6 | - | - |
GRCh38 GRCh37 |
192 | 226 | |
ACSL3 | - | - |
GRCh38 GRCh37 |
21 | 57 | |
ANKZF1 | - | - |
GRCh38 GRCh37 |
549 | 584 | |
AP1S3 | - | - |
GRCh38 GRCh37 |
23 | 57 | |
ARPC2 | - | - |
GRCh38 GRCh37 |
9 | 35 | |
ASIC4 | - | - |
GRCh38 GRCh37 |
4 | 38 | |
ATG9A | - | - |
GRCh38 GRCh37 |
46 | 80 |
There are 63 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) |
|
Oct 25, 2017 | RCV000682163.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022