ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)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 |
564 | 670 | |
SDHB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1271 | 1385 | |
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 | - | |
SPEN | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
456 | - | |
MAD2L2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
114 | 170 | |
MFN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1236 | 1340 | |
TARDBP | No evidence available | No evidence available |
GRCh38 GRCh37 |
237 | 338 | |
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 154 | |
AADACL3 | - | - | - |
GRCh38 GRCh37 |
- | 56 |
There are 796 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 | RCV000053714.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 20, 2023