ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)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 | |||
MYT1L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
443 | 512 | |
SOX11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
294 | 316 | |
ACP1 | - | - |
GRCh38 GRCh37 |
12 | 72 | |
ADAM17 | - | - |
GRCh38 GRCh37 |
249 | 537 | |
ADI1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 45 | |
ALKAL2 | - | - |
GRCh38 GRCh37 |
10 | 69 | |
ALLC | - | - |
GRCh38 GRCh37 |
28 | 62 | |
ASAP2 | - | - |
GRCh38 GRCh37 |
58 | 84 | |
CMPK2 | - | - |
GRCh38 GRCh37 |
20 | 65 | |
COLEC11 | - | - |
GRCh38 GRCh37 |
93 | 128 |
There are 229 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 | RCV000052932.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 28, 2023