ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3
Germline
Classification
(1)
Benign
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 | |||
GATA3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
348 | 392 | |
RET | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3580 | 3702 | |
WAC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
268 | 299 | |
ANKRD26 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1046 | 1124 | |
GDF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
261 | 378 | |
NEBL | No evidence available | No evidence available |
GRCh38 GRCh37 |
1116 | 1170 | |
UPF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
73 | 103 | |
ABI1 | - | - |
GRCh38 GRCh37 |
17 | 37 | |
ACBD5 | - | - |
GRCh38 GRCh37 |
354 | 433 | |
ACBD7 | - | - | - |
GRCh38 GRCh37 |
- | 28 |
There are 1213 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
|
Benign (1) |
|
Feb 4, 2013 | RCV000141497.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024