ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3
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 | |||
GNB1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
295 | 453 | |
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1034 | 1178 | |
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
45 | 154 | |
ACAP3 | - | - | - |
GRCh38 GRCh37 |
40 | 191 |
ACTRT2 | - | - |
GRCh38 GRCh37 |
19 | 157 | |
AGRN | - | - |
GRCh38 GRCh37 |
2056 | 2329 | |
AJAP1 | - | - |
GRCh38 GRCh37 |
20 | 98 | |
ANKRD65 | - | - | - |
GRCh38 GRCh37 |
19 | 194 |
ANKRD65-AS1 | - | - | - | GRCh38 | - | 90 |
ARHGEF16 | - | - |
GRCh38 GRCh37 |
47 | 159 |
There are 330 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051779.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023