ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q21.1(chr1:145382834-145830864)x1
Germline
Classification
(1)
Pathogenic
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 | |||
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 |
NUDT17 | - | - | - |
GRCh38 GRCh37 |
13 | 219 |
PDZK1 | - | - |
GRCh38 GRCh37 |
18 | 236 | |
PEX11B | - | - |
GRCh38 GRCh37 |
236 | 440 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 28, 2021 | RCV004577443.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024