ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)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 |
588 | 697 | |
CHD5 | Little evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
238 | 295 | |
GNB1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
300 | 464 | |
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1069 | 1216 | |
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
50 | 161 | |
ACAP3 | - | - | - |
GRCh38 GRCh37 |
55 | 207 |
ACOT7 | - | - |
GRCh38 GRCh37 |
26 | 88 | |
ACTRT2 | - | - |
GRCh38 GRCh37 |
27 | 167 | |
AGRN | - | - |
GRCh38 GRCh37 |
2083 | 2358 | |
AJAP1 | - | - |
GRCh38 GRCh37 |
29 | 108 |
There are 450 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051995.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023