ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
MYH10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
150 | 181 | |
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 | |
CTC1 | - | - |
GRCh38 GRCh37 |
1361 | 1477 | |
GUCY2D | - | - |
GRCh38 GRCh37 |
1426 | 1461 | |
HES7 | - | - |
GRCh38 GRCh37 |
69 | 146 |
There are 102 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Sep 27, 2013 | RCV000141063.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024