ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)
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 | |||
CDC73 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1598 | 1652 | |
LHX4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
65 | 205 | |
ABL2 | - | - |
GRCh38 GRCh37 |
51 | 78 | |
ACBD6 | - | - |
GRCh38 GRCh37 |
25 | 160 | |
APOBEC4 | - | - |
GRCh38 GRCh37 |
- | 45 | |
ARPC5 | - | - |
GRCh38 GRCh37 |
5 | 36 | |
ASPM | - | - |
GRCh38 GRCh37 |
1733 | 1781 | |
ATP6V1G3 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 31 | |
AXDND1 | - | - | - |
GRCh38 GRCh37 |
67 | 280 |
B3GALT2 | - | - |
GRCh38 GRCh37 |
- | 51 |
There are 74 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) |
|
Mar 1, 2022 | RCV002053769.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023