ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq28(chrX:149650839-149937387)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 | |||
MTM1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
747 | 950 | |
CD99L2 | - | - |
GRCh38 GRCh37 |
30 | 220 | |
MAMLD1 | - | - |
GRCh38 GRCh37 |
106 | 304 | |
MTMR1 | - | - |
GRCh38 GRCh37 |
42 | 235 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 7, 2022 | RCV003483937.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024