ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)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 |
580 | 686 | |
CHD5 | Little evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
233 | 288 | |
CASZ1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
391 | 439 | |
GNB1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
296 | 454 | |
MFN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1239 | 1343 | |
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1068 | 1212 | |
TARDBP | No evidence available | No evidence available |
GRCh38 GRCh37 |
238 | 345 | |
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
50 | 159 | |
ACAP3 | - | - | - |
GRCh38 GRCh37 |
55 | 206 |
ACOT7 | - | - |
GRCh38 GRCh37 |
26 | 86 |
There are 151 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) |
|
Apr 13, 2022 | RCV002473951.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023