ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)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 |
CEP55 | - | - |
GRCh38 GRCh37 |
80 | 105 | |
CYP26A1 | - | - |
GRCh38 GRCh37 |
32 | 54 | |
CYP26C1 | - | - |
GRCh38 GRCh37 |
49 | 82 | |
CYP2C18 | - | - |
GRCh38 GRCh37 |
37 | 69 | |
CYP2C19 | - | - |
GRCh38 GRCh37 |
235 | 668 | |
CYP2C8 | - | - |
GRCh38 GRCh37 |
40 | 72 | |
CYP2C9 | - | - |
GRCh38 GRCh37 |
31 | 66 | |
EXOC6 | - | - |
GRCh38 GRCh37 |
24 | 48 |
There are 97 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 4, 2011 | RCV000137919.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024