ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3
Germline
Classification
(1)
Likely 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 | |||
WAC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
258 | 289 | |
ANKRD26 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1026 | 1103 | |
NEBL | No evidence available | No evidence available |
GRCh38 GRCh37 |
1101 | 1154 | |
ABI1 | - | - |
GRCh38 GRCh37 |
15 | 35 | |
ACBD5 | - | - |
GRCh38 GRCh37 |
351 | 429 | |
APBB1IP | - | - |
GRCh38 GRCh37 |
41 | 54 | |
ARHGAP12 | - | - |
GRCh38 GRCh37 |
39 | 53 | |
ARHGAP21 | - | - |
GRCh38 GRCh37 |
135 | 149 | |
ARMC3 | - | - |
GRCh38 GRCh37 |
58 | 70 | |
BAMBI | - | - |
GRCh38 GRCh37 |
17 | 32 |
There are 368 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
|
Likely pathogenic (1) |
|
Aug 14, 2012 | RCV000139427.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024