ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3
Germline
Classification
(1)
Likely 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 |
417 | 599 | |
SOX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1 | 257 | |
PAK2 | Little evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
21 | 126 | |
FGF12 | No evidence available | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
245 | 296 | |
TP63 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
694 | 756 | |
NAALADL2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
54 | 99 | |
NLGN1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
93 | 117 | |
PIK3CA | No evidence available | No evidence available |
GRCh38 GRCh37 |
1297 | 1331 | |
ABCC5 | - | - |
GRCh38 GRCh37 |
64 | 106 | |
ABCF3 | - | - |
GRCh38 GRCh37 |
38 | 84 |
There are 147 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Aug 1, 2022 | RCV002286610.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 26, 2024