ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p25.3(chr2:2074335-3934366)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 | |
ADI1 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 45 | |
ALLC | - | - |
GRCh38 GRCh37 |
28 | 62 | |
COLEC11 | - | - |
GRCh38 GRCh37 |
92 | 127 | |
DCDC2C | - | - | - |
GRCh38 GRCh37 |
3 | 36 |
EIPR1 | - | - |
GRCh38 GRCh37 |
16 | 56 | |
RNASEH1 | - | - |
GRCh38 GRCh37 |
155 | 209 | |
RPS7 | - | - |
GRCh38 GRCh37 |
185 | 220 | |
TRAPPC12 | - | - |
GRCh38 GRCh38 GRCh37 |
175 | 252 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 9, 2019 | RCV001259634.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023