ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)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 | |||
AGT | - | - |
GRCh38 GRCh37 |
184 | 230 | |
ARV1 | - | - |
GRCh38 GRCh37 |
41 | 100 | |
C1orf131 | - | - | - |
GRCh38 GRCh37 |
2 | 52 |
C1orf198 | - | - | - |
GRCh38 GRCh37 |
4 | 51 |
CAPN9 | - | - |
GRCh38 GRCh37 |
58 | 106 | |
COG2 | - | - |
GRCh38 GRCh37 |
195 | 245 | |
EGLN1 | - | - |
GRCh38 GRCh37 |
936 | 1036 | |
EXOC8 | - | - |
GRCh38 GRCh37 |
61 | 101 | |
FAM89A | - | - | - |
GRCh38 GRCh37 |
10 | 60 |
GALNT2 | - | - |
GRCh38 GRCh37 |
110 | 164 |
There are 58 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000051559.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024