ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)
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 | |||
PBX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
111 | 131 | |
SDHC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
848 | 890 | |
FMO2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
37 | 63 | |
ADAMTS4 | - | - |
GRCh38 GRCh37 |
44 | 81 | |
ADCY10 | - | - |
GRCh38 GRCh37 |
325 | 511 | |
ALDH9A1 | - | - |
GRCh38 GRCh37 |
29 | 49 | |
ANKRD45 | - | - |
GRCh38 GRCh37 |
12 | 48 | |
APOA2 | - | - |
GRCh38 GRCh37 |
28 | 47 | |
ARHGAP30 | - | - |
GRCh38 GRCh37 |
54 | 72 | |
ATF6 | - | - |
GRCh38 GRCh37 |
426 | 446 |
There are 129 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) |
|
Nov 1, 2018 | RCV000767779.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023