ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)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 | |||
GNB1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
303 | 467 | |
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1087 | 1234 | |
ACAP3 | - | - | - |
GRCh38 GRCh37 |
62 | 214 |
AGRN | - | - |
GRCh38 GRCh37 |
2095 | 2371 | |
ANKRD65 | - | - | - |
GRCh38 GRCh37 |
28 | 212 |
ANKRD65-AS1 | - | - | - | GRCh38 | - | 97 |
ATAD3A | - | - |
GRCh38 GRCh37 |
283 | 453 | |
ATAD3B | - | - |
GRCh38 GRCh37 |
101 | 277 | |
ATAD3C | - | - |
GRCh38 GRCh37 |
65 | 230 | |
AURKAIP1 | - | - |
GRCh38 GRCh37 |
12 | 160 |
There are 246 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 9, 2013 | RCV000141227.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024