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 |
337 | 380 | |
RET | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3446 | 3566 | |
WAC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
254 | 284 | |
ANKRD26 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1016 | 1092 | |
GDF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
246 | 361 | |
NEBL | No evidence available | No evidence available |
GRCh38 GRCh37 |
1059 | 1110 | |
UPF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
55 | 84 | |
ABI1 | - | - |
GRCh38 GRCh37 |
9 | 29 | |
ACBD5 | - | - |
GRCh38 GRCh37 |
350 | 428 | |
ACBD7 | - | - | - |
GRCh38 GRCh37 |
- | 24 |
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 |
---|---|---|---|---|
Benign (1) |
|
Feb 4, 2013 | RCV000141497.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023