ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1
Germline
Classification
(1)
not provided
no classification 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 | |||
CAMTA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
602 | 712 | |
CHD5 | Little evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
263 | 320 | |
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
58 | 170 | |
ACOT7 | - | - |
GRCh38 GRCh37 |
30 | 92 | |
ACTRT2 | - | - |
GRCh38 GRCh37 |
30 | 170 | |
AJAP1 | - | - |
GRCh38 GRCh37 |
34 | 113 | |
ARHGEF16 | - | - |
GRCh38 GRCh37 |
68 | 182 | |
C1orf174 | - | - | - |
GRCh38 GRCh37 |
5 | 102 |
CCDC27 | - | - | - |
GRCh38 GRCh37 |
65 | 165 |
CEP104 | - | - |
GRCh38 GRCh37 |
403 | 560 |
There are 39 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 |
---|---|---|---|---|
not provided (1) |
|
- | RCV001535693.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023