ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1
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 | |||
CAMTA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
564 | 670 | |
CHD5 | Little evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
213 | 268 | |
CASZ1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
366 | 414 | |
GNB1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
295 | 453 | |
MAD2L2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
114 | 170 | |
MFN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1236 | 1340 | |
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1034 | 1178 | |
TARDBP | No evidence available | No evidence available |
GRCh38 GRCh37 |
237 | 338 | |
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
45 | 154 | |
ACAP3 | - | - | - |
GRCh38 GRCh37 |
40 | 191 |
There are 798 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) |
|
Dec 22, 2010 | RCV000136695.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 20, 2023