ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.1(chr17:7929776-9995862)
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 | |||
MYH10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
146 | 177 | |
ALOX12B | - | - |
GRCh38 GRCh37 |
301 | 357 | |
ALOX15B | - | - |
GRCh38 GRCh37 |
58 | 91 | |
ALOXE3 | - | - |
GRCh38 GRCh37 |
212 | 290 | |
ARHGEF15 | - | - |
GRCh38 GRCh37 |
584 | 612 | |
AURKB | - | - |
GRCh38 GRCh37 |
18 | 47 | |
BORCS6 | - | - |
GRCh38 GRCh37 |
21 | 51 | |
CCDC42 | - | - | - |
GRCh38 GRCh37 |
22 | 36 |
CFAP52 | - | - |
GRCh38 GRCh37 |
104 | 117 | |
CTC1 | - | - |
GRCh38 GRCh37 |
1361 | 1477 |
There are 28 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002052588.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023