ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q41(chr1:222698623-224065782)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 | |||
DISP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
326 | 360 | |
AIDA | - | - |
GRCh38 GRCh37 |
9 | 41 | |
BROX | - | - | - |
GRCh38 GRCh37 |
13 | 45 |
CAPN2 | - | - |
GRCh38 GRCh37 |
54 | 92 | |
CAPN8 | - | - |
GRCh38 GRCh37 |
29 | 63 | |
CCDC185 | - | - | - |
GRCh38 GRCh37 |
52 | 83 |
FAM177B | - | - | - |
GRCh38 GRCh37 |
4 | 36 |
HHIPL2 | - | - |
GRCh38 GRCh37 |
62 | 93 | |
MIA3 | - | - |
GRCh38 GRCh37 |
125 | 155 | |
SUSD4 | - | - |
GRCh38 GRCh37 |
35 | 67 |
There are 3 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986209.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024