ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.33-36.32(chr1:849466-2330338)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 |
300 | 464 | |
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1069 | 1216 | |
ACAP3 | - | - | - |
GRCh38 GRCh37 |
55 | 207 |
AGRN | - | - |
GRCh38 GRCh37 |
2083 | 2358 | |
ANKRD65 | - | - | - |
GRCh38 GRCh37 |
23 | 205 |
ATAD3A | - | - |
GRCh38 GRCh37 |
271 | 441 | |
ATAD3B | - | - |
GRCh38 GRCh37 |
90 | 266 | |
ATAD3C | - | - |
GRCh38 GRCh37 |
55 | 220 | |
AURKAIP1 | - | - |
GRCh38 GRCh37 |
11 | 159 | |
B3GALT6 | - | - |
GRCh38 GRCh37 |
328 | 482 |
There are 46 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 15, 2014 | RCV000512029.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024