ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p25.3(chr2:10501-2386917)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 |
478 | 548 | |
ACP1 | - | - |
GRCh38 GRCh37 |
13 | 74 | |
ALKAL2 | - | - |
GRCh38 GRCh37 |
13 | 74 | |
FAM110C | - | - |
GRCh38 GRCh37 |
41 | 91 | |
PXDN | - | - |
GRCh38 GRCh37 |
437 | 510 | |
SH3YL1 | - | - |
GRCh38 GRCh37 |
32 | 96 | |
SNTG2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
77 | 155 | |
TMEM18 | - | - |
GRCh38 GRCh37 |
8 | 67 | |
TPO | - | - |
GRCh38 GRCh38 GRCh37 |
710 | 823 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 29, 2020 | RCV001801227.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023