ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q34-35(chr7:142833114-143218955)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
CASP2 | - | - |
GRCh38 GRCh37 |
34 | 85 | |
CLCN1 | - | - |
GRCh38 GRCh37 |
1373 | 1521 | |
EPHA1 | - | - |
GRCh38 GRCh38 GRCh37 |
77 | 139 | |
FAM131B | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 79 | |
GSTK1 | - | - |
GRCh38 GRCh37 |
- | 65 | |
PIP | - | - |
GRCh38 GRCh37 |
10 | 60 | |
TAS2R39 | - | - | - |
GRCh38 GRCh37 |
14 | 64 |
TAS2R40 | - | - |
GRCh38 GRCh37 |
15 | 63 | |
TAS2R41 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 67 | |
TAS2R60 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 73 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 13, 2023 | RCV003484702.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024