ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)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 | |||
CAMTA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
574 | 680 | |
CHD5 | Little evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
208 | 266 | |
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
45 | 159 | |
ACOT7 | - | - |
GRCh38 GRCh37 |
26 | 91 | |
AJAP1 | - | - |
GRCh38 GRCh37 |
20 | 101 | |
ARHGEF16 | - | - |
GRCh38 GRCh37 |
47 | 167 | |
C1orf174 | - | - | - |
GRCh38 GRCh37 |
4 | 104 |
CAMTA1-AS1 | - | - | - | GRCh38 | - | 23 |
CAMTA1-AS2 | - | - | - | GRCh38 | - | 22 |
CAMTA1-AS3 | - | - | - | GRCh38 | - | 22 |
There are 185 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053720.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 20, 2023