ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)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 | |||
TBL1XR1 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
414 | 592 | |
SOX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 248 | |
TP63 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
689 | 751 | |
NAALADL2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
54 | 99 | |
NLGN1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
92 | 116 | |
PIK3CA | No evidence available | No evidence available |
GRCh38 GRCh37 |
1283 | 1317 | |
ABCC5 | - | - |
GRCh38 GRCh37 |
64 | 106 | |
ABCF3 | - | - |
GRCh38 GRCh37 |
37 | 83 | |
ACTL6A | - | - |
GRCh38 GRCh37 |
33 | 63 | |
ADIPOQ | - | - |
GRCh38 GRCh37 |
- | 70 |
There are 105 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 6, 2018 | RCV001005487.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022