ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.3(chr2:1844295-3488792)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
MYT1L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
442 | 511 | |
EIPR1 | - | - |
GRCh38 GRCh37 |
16 | 56 | |
LINC01250 | - | - | - | GRCh38 | - | 20 |
LOC105373390 | - | - | - | GRCh38 | - | 21 |
LOC110121085 | - | - | - | GRCh38 | - | 19 |
LOC114004371 | - | - | - | GRCh38 | - | 19 |
LOC121725077 | - | - | - | GRCh38 | - | 19 |
LOC126806105 | - | - | - | GRCh38 | - | 20 |
LOC126806106 | - | - | - | GRCh38 | - | 19 |
LOC126806107 | - | - | - | GRCh38 | - | 19 |
There are 22 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 31, 2012 | RCV000138141.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024