ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3
Germline
Classification
(1)
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 | |||
GATA3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
356 | 402 | |
RET | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3595 | 3717 | |
WAC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
283 | 315 | |
ZMYND11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
232 | 370 | |
ANKRD26 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1123 | 1204 | |
GDF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
264 | 381 | |
NEBL | No evidence available | No evidence available |
GRCh38 GRCh37 |
1119 | 1173 | |
UPF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
73 | 103 | |
ABI1 | - | - |
GRCh38 GRCh37 |
17 | 37 | |
ACBD5 | - | - |
GRCh38 GRCh37 |
355 | 434 |
There are 197 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
|
Pathogenic (1) |
|
Jun 3, 2014 | RCV000510893.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024