ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
KIF11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
840 | 867 | |
ACSM6 | - | - | - |
GRCh38 GRCh37 |
26 | 58 |
ALDH18A1 | - | - |
GRCh38 GRCh37 |
669 | 698 | |
BTAF1 | - | - |
GRCh38 GRCh37 |
139 | 160 | |
CEP55 | - | - |
GRCh38 GRCh37 |
80 | 105 | |
CPEB3 | - | - |
GRCh38 GRCh37 |
29 | 56 | |
CYP26A1 | - | - |
GRCh38 GRCh37 |
32 | 54 | |
CYP26C1 | - | - |
GRCh38 GRCh37 |
49 | 82 | |
CYP2C18 | - | - |
GRCh38 GRCh37 |
37 | 69 | |
CYP2C19 | - | - |
GRCh38 GRCh37 |
235 | 668 |
There are 25 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 8, 2022 | RCV003159569.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2023