ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.33-36.32(chr1:1415800-5007235)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 | |
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
58 | 170 | |
ACTRT2 | - | - |
GRCh38 GRCh37 |
30 | 170 | |
AJAP1 | - | - |
GRCh38 GRCh37 |
34 | 113 | |
ARHGEF16 | - | - |
GRCh38 GRCh37 |
68 | 182 | |
ATAD3A | - | - |
GRCh38 GRCh37 |
284 | 454 | |
ATAD3B | - | - |
GRCh38 GRCh37 |
102 | 278 | |
C1orf174 | - | - | - |
GRCh38 GRCh37 |
5 | 102 |
CALML6 | - | - |
GRCh38 GRCh37 |
10 | 169 |
There are 35 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) |
|
May 5, 2014 | RCV000511946.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024