ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)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 |
410 | 587 | |
SOX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 241 | |
PAK2 | Little evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
19 | 124 | |
FGF12 | No evidence available | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
241 | 292 | |
TP63 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
687 | 749 | |
PIK3CA | No evidence available | No evidence available |
GRCh38 GRCh37 |
1240 | 1274 | |
ABCC5 | - | - |
GRCh38 GRCh37 |
61 | 103 | |
ABCC5-AS1 | - | - | - | GRCh38 | - | 19 |
ABCF3 | - | - |
GRCh38 GRCh37 |
32 | 78 | |
ACAP2 | - | - |
GRCh38 GRCh37 |
18 | 64 |
There are 859 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
|
Pathogenic (1) |
|
Jul 9, 2012 | RCV000138662.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024