ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q23.33-24.1(chr10:96298410-97426086)x3
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 | |||
ACSM6 | - | - | - |
GRCh38 GRCh37 |
26 | 58 |
ALDH18A1 | - | - |
GRCh38 GRCh37 |
669 | 698 | |
CYP2C18 | - | - |
GRCh38 GRCh37 |
37 | 69 | |
CYP2C19 | - | - |
GRCh38 GRCh37 |
235 | 668 | |
CYP2C8 | - | - |
GRCh38 GRCh37 |
40 | 72 | |
CYP2C9 | - | - |
GRCh38 GRCh37 |
31 | 66 | |
HELLS | - | - |
GRCh38 GRCh37 |
343 | 374 | |
PDLIM1 | - | - |
GRCh38 GRCh37 |
15 | 48 | |
SORBS1 | - | - |
GRCh38 GRCh37 |
103 | 133 | |
TCTN3 | - | - |
GRCh38 GRCh37 |
422 | 522 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 1, 2022 | RCV003484810.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024