ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q13.2-13.3(chr15:30653877-32914199)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 | |||
ARHGAP11B | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
15 | 186 | ||
CHRNA7 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
124 | 390 | |
OTUD7A | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
86 | 350 | |
ARHGAP11A | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 118 | |
CHRFAM7A | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
13 | 132 | |
FAN1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
159 | 546 | |
GOLGA8H | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 141 |
GOLGA8J | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
3 | 121 |
GOLGA8N | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 61 |
GOLGA8O | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 74 |
There are 5 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Oct 31, 2023 | RCV003388822.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 04, 2023