ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q24.1(chr2:157418173-158277521)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 | |||
ACVR1 | - | - |
GRCh38 GRCh37 |
306 | 326 | |
ACVR1C | - | - |
GRCh38 GRCh37 |
45 | 68 | |
CCDC148 | - | - | - |
GRCh38 GRCh37 |
20 | 49 |
CCDC148-AS1 | - | - | - | GRCh38 | - | 14 |
CYTIP | - | - |
GRCh38 GRCh37 |
13 | 41 | |
LOC121725105 | - | - | - | GRCh38 | - | 7 |
LOC126806386 | - | - | - | GRCh38 | - | 9 |
LOC126806387 | - | - | - | GRCh38 | - | 9 |
LOC126806388 | - | - | - | GRCh38 | - | 8 |
LOC126806389 | - | - | - | GRCh38 | - | 8 |
There are 18 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37 , NCBI36 , GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 10, 2014 | RCV000142260.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023