ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)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 | |||
CDC73 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1514 | 1562 | |
LHX4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
59 | 185 | |
ABL2 | - | - |
GRCh38 GRCh37 |
34 | 61 | |
ACBD6 | - | - |
GRCh38 GRCh37 |
16 | 137 | |
ANGPTL1 | - | - |
GRCh38 GRCh37 |
- | 43 | |
APOBEC4 | - | - |
GRCh38 GRCh37 |
- | 38 | |
ARPC5 | - | - |
GRCh38 GRCh37 |
2 | 32 | |
ASPM | - | - |
GRCh38 GRCh37 |
1668 | 1715 | |
ATP6V1G3 | - | - |
GRCh38 GRCh38 GRCh37 |
6 | 27 | |
AXDND1 | - | - | - |
GRCh38 GRCh37 |
39 | 246 |
There are 80 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 28, 2019 | RCV001005157.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023