ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.22(chr18:8585096-9660466)x1
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 | |||
ANKRD12 | - | - |
GRCh38 GRCh37 |
97 | 202 | |
MTCL1 | - | - |
GRCh38 GRCh37 |
173 | 281 | |
NDUFV2 | - | - |
GRCh38 GRCh37 |
42 | 242 | |
PPP4R1 | - | - |
GRCh38 GRCh37 |
50 | 158 | |
RAB12 | - | - |
GRCh38 GRCh37 |
11 | 122 | |
RALBP1 | - | - |
GRCh38 GRCh37 |
32 | 135 | |
TWSG1 | - | - |
GRCh38 GRCh37 |
6 | 109 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 28, 2022 | RCV002473808.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022