ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.32-11.31(chr18:1345040-3479168)
Germline
Classification
(1)
Uncertain significance
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 | |||
TGIF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
144 | 284 | |
EMILIN2 | - | - |
GRCh38 GRCh37 |
85 | 258 | |
LPIN2 | - | - |
GRCh38 GRCh37 |
882 | 1031 | |
METTL4 | - | - |
GRCh38 GRCh37 |
29 | 167 | |
MYL12A | - | - | - |
GRCh38 GRCh37 |
5 | 149 |
MYL12B | - | - |
GRCh38 GRCh37 |
1 | 144 | |
MYOM1 | - | - |
GRCh38 GRCh37 |
1681 | 1831 | |
NDC80 | - | - |
GRCh38 GRCh37 |
22 | 165 | |
SMCHD1 | - | - |
GRCh38 GRCh37 |
1389 | 1547 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 1, 2017 | RCV000626493.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 20, 2023