ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.3(chr2:50661-3293835)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 | |||
MYT1L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
460 | 530 | |
ACP1 | - | - |
GRCh38 GRCh37 |
13 | 74 | |
ALKAL2 | - | - |
GRCh38 GRCh37 |
13 | 74 | |
EIPR1 | - | - |
GRCh38 GRCh37 |
16 | 56 | |
LINC01115 | - | - | - |
GRCh38 GRCh38 |
- | 32 |
LINC01250 | - | - | - | GRCh38 | - | 20 |
LINC01865 | - | - | - | GRCh38 | - | 32 |
LINC01874 | - | - | - | GRCh38 | - | 32 |
LINC01875 | - | - | - | GRCh38 | - | 30 |
LINC01939 | - | - | - | GRCh38 | - | 33 |
There are 60 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 | RCV000053977.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024