ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q23.3(chr1:160859558-161409185)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 | |||
SDHC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
848 | 890 | |
ADAMTS4 | - | - |
GRCh38 GRCh37 |
44 | 81 | |
APOA2 | - | - |
GRCh38 GRCh37 |
28 | 47 | |
ARHGAP30 | - | - |
GRCh38 GRCh37 |
54 | 72 | |
B4GALT3 | - | - |
GRCh38 GRCh37 |
- | 36 | |
CFAP126 | - | - |
GRCh38 GRCh37 |
13 | 48 | |
DEDD | - | - |
GRCh38 GRCh37 |
- | 28 | |
F11R | - | - |
GRCh38 GRCh37 |
16 | 35 | |
FCER1G | - | - |
GRCh38 GRCh37 |
1 | 22 | |
ITLN2 | - | - |
GRCh38 GRCh37 |
24 | 50 |
There are 14 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) |
|
Sep 24, 2020 | RCV001829131.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023