ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q33.1(chr2:201537291-201896769)x1
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 | |||
ALS2 | - | - |
GRCh38 GRCh37 |
984 | 1028 | |
C2CD6 | - | - |
GRCh38 GRCh37 |
31 | 69 | |
CDK15 | - | - |
GRCh38 GRCh37 |
11 | 46 | |
LOC129388982 | - | - | - | GRCh38 | - | 15 |
LOC129935415 | - | - | - | GRCh38 | - | 14 |
LOC129935416 | - | - | - | GRCh38 | - | 18 |
LOC129935417 | - | - | - | GRCh38 | - | 37 |
LOC129935418 | - | - | - | GRCh38 | - | 15 |
LOC129935419 | - | - | - | GRCh38 | - | 19 |
LOC129935420 | - | - | - | GRCh38 | - | 17 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052606.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023