ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1
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 | |||
KIF11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
840 | 867 | |
SLC16A12 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
61 | 93 | |
ACSM6 | - | - | - |
GRCh38 GRCh37 |
26 | 58 |
ALDH18A1 | - | - |
GRCh38 GRCh37 |
669 | 698 | |
ANKRD1 | - | - |
GRCh38 GRCh37 |
484 | 502 | |
ANKRD2 | - | - |
GRCh38 GRCh37 |
24 | 43 | |
ARHGAP19 | - | - |
GRCh38 GRCh37 |
- | 48 | |
AVPI1 | - | - |
GRCh38 GRCh37 |
7 | 27 | |
BLNK | - | - |
GRCh38 GRCh37 |
228 | 341 | |
BTAF1 | - | - |
GRCh38 GRCh37 |
139 | 160 |
There are 75 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) |
|
- | RCV003986861.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024