ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q21.2(chr1:150214843-150565007)x3
Germline
Classification
(1)
Likely benign
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 | |||
ADAMTSL4 | - | - |
GRCh38 GRCh37 |
422 | 1247 | |
ADAMTSL4-AS1 | - | - | - | GRCh38 | - | 3 |
ADAMTSL4-AS2 | - | - | - | GRCh38 | - | 787 |
ANP32E | - | - |
GRCh38 GRCh37 |
6 | 21 | |
APH1A | - | - |
GRCh38 GRCh37 |
9 | 25 | |
C1orf54 | - | - | - |
GRCh38 GRCh37 |
- | 16 |
CA14 | - | - |
GRCh38 GRCh37 |
24 | 39 | |
CIART | - | - |
GRCh38 GRCh37 |
28 | 43 | |
ECM1 | - | - |
GRCh38 GRCh37 |
117 | 129 | |
FALEC | - | - |
GRCh38 GRCh37 |
- | 12 |
There are 29 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
|
Likely benign (1) |
|
Sep 21, 2012 | RCV000138735.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024