ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.33-36.32(chr1:1723651-3444846)x1
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 |
296 | 454 | |
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1068 | 1212 | |
ACTRT2 | - | - |
GRCh38 GRCh37 |
27 | 165 | |
ARHGEF16 | - | - |
GRCh38 GRCh37 |
65 | 177 | |
CALML6 | - | - |
GRCh38 GRCh37 |
9 | 162 | |
CFAP74 | - | - |
GRCh38 GRCh37 |
85 | 245 | |
FAAP20 | - | - |
GRCh38 GRCh37 |
9 | 152 | |
GABRD | - | - |
GRCh38 GRCh37 |
384 | 542 | |
HES5 | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 147 | |
MEGF6 | - | - |
GRCh38 GRCh37 |
169 | 281 |
There are 12 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) |
|
Jan 1, 2019 | RCV000856630.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023