ClinVar Genomic variation as it relates to human health
NC_000002.12:g.(?_201618900)_(201647825_?)del
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 | |||
C2CD6 | - | - |
GRCh38 GRCh37 |
102 | 140 | |
LOC129935416 | - | - | - | GRCh38 | - | 18 |
LOC129935417 | - | - | - | GRCh38 | - | 37 |
MPP4 | - | - |
GRCh38 GRCh37 |
49 | 88 | |
TMEM237 | - | - |
GRCh38 GRCh37 |
427 | 491 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 3, 2022 | RCV000708267.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024