ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q21.1(chr1:145601946-146046631)x1
Germline
Classification
(1)
Pathogenic
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 | |||
ANKRD34A | - | - | - |
GRCh38 GRCh37 |
18 | 220 |
ANKRD35 | - | - | - |
GRCh38 GRCh37 |
73 | 274 |
CD160 | - | - |
GRCh38 GRCh37 |
7 | 222 | |
GPR89A | - | - |
GRCh38 GRCh37 |
13 | 227 | |
HJV | - | - |
GRCh38 GRCh37 |
385 | 572 | |
ITGA10 | - | - |
GRCh38 GRCh37 |
68 | 272 | |
LIX1L | - | - | - |
GRCh38 GRCh37 |
9 | 227 |
LIX1L-AS1 | - | - | - | GRCh38 | - | 111 |
LOC106783502 | - | - | - | GRCh38 | - | 78 |
LOC108254679 | - | - | - | GRCh38 | - | 74 |
There are 44 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
|
Pathogenic (1) |
|
Sep 21, 2012 | RCV000139546.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024