ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q12.1(chr3:99755242-100236704)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 | |||
CMSS1 | - | - | - |
GRCh38 GRCh37 |
13 | 132 |
COL8A1 | - | - |
GRCh38 GRCh37 |
34 | 49 | |
FILIP1L | - | - |
GRCh38 GRCh37 |
- | 117 | |
HP09053 | - | - | - | GRCh38 | - | 10 |
LOC105374010 | - | - | - | GRCh38 | - | 9 |
LOC112935966 | - | - | - | GRCh38 | - | 8 |
LOC121725152 | - | - | - | GRCh38 | - | 8 |
LOC123002317 | - | - | - | GRCh38 | - | 8 |
LOC129389105 | - | - | - | GRCh38 | - | 9 |
LOC129937130 | - | - | - | GRCh38 | - | 8 |
There are 8 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) |
|
May 27, 2011 | RCV000137539.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024