ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3
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 | |||
AGT | - | - |
GRCh38 GRCh37 |
180 | 226 | |
ARV1 | - | - |
GRCh38 GRCh37 |
34 | 92 | |
C1orf131 | - | - | - |
GRCh38 GRCh37 |
2 | 52 |
C1orf198 | - | - | - |
GRCh38 GRCh37 |
3 | 50 |
CAPN9 | - | - |
GRCh38 GRCh37 |
44 | 92 | |
COG2 | - | - |
GRCh38 GRCh37 |
190 | 240 | |
FAM89A | - | - | - |
GRCh38 GRCh37 |
6 | 56 |
LINC01737 | - | - | - | GRCh38 | - | 19 |
LOC101927604 | - | - | - | GRCh38 | - | 20 |
LOC110121205 | - | - | - | GRCh38 | - | 20 |
There are 26 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) |
|
May 27, 2010 | RCV000050291.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023