ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ALPL | - | - |
GRCh38 GRCh37 |
1186 | 1201 | |
C1QA | - | - |
GRCh38 GRCh37 |
132 | 144 | |
C1QB | - | - |
GRCh38 GRCh37 |
101 | 112 | |
C1QC | - | - |
GRCh38 GRCh37 |
137 | 149 | |
CDC42 | - | - |
GRCh38 GRCh37 |
102 | 120 | |
CELA3A | - | - |
GRCh38 GRCh37 |
23 | 38 | |
CELA3B | - | - |
GRCh38 GRCh37 |
24 | 38 | |
EPHA8 | - | - |
GRCh38 GRCh37 |
94 | 106 | |
HSPG2 | - | - |
GRCh38 GRCh37 |
2511 | 2808 | |
LDLRAD2 | - | - | - |
GRCh38 GRCh37 |
17 | 211 |
There are 52 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 10, 2012 | RCV000138071.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024