ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3
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 | |||
MYT1L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
442 | 511 | |
SOX11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
293 | 315 | |
ACP1 | - | - |
GRCh38 GRCh37 |
12 | 72 | |
ADI1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 45 | |
ALKAL2 | - | - |
GRCh38 GRCh37 |
10 | 69 | |
ALLC | - | - |
GRCh38 GRCh37 |
28 | 62 | |
CMPK2 | - | - |
GRCh38 GRCh37 |
20 | 65 | |
COLEC11 | - | - |
GRCh38 GRCh37 |
92 | 127 | |
DCDC2C | - | - | - |
GRCh38 GRCh37 |
3 | 36 |
EIPR1 | - | - |
GRCh38 GRCh37 |
16 | 56 |
There are 11 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) |
|
Apr 17, 2017 | RCV000847257.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023