ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)
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 | |||
CHD5 | Little evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
234 | 289 | |
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1068 | 1212 | |
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
50 | 159 | |
ACOT7 | - | - |
GRCh38 GRCh37 |
26 | 86 | |
ACTRT2 | - | - |
GRCh38 GRCh37 |
27 | 165 | |
AJAP1 | - | - |
GRCh38 GRCh37 |
29 | 107 | |
ARHGEF16 | - | - |
GRCh38 GRCh37 |
65 | 177 | |
C1orf174 | - | - | - |
GRCh38 GRCh37 |
5 | 102 |
CCDC27 | - | - | - |
GRCh38 GRCh37 |
56 | 154 |
CEP104 | - | - |
GRCh38 GRCh37 |
398 | 553 |
There are 32 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) |
|
- | RCV003319574.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023