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 |
594 | 703 | |
SDHB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1304 | 1420 | |
CHD5 | Little evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
245 | 302 | |
CASZ1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
392 | 443 | |
SPEN | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
512 | 545 | |
MAD2L2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
114 | 173 | |
MFN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1243 | 1349 | |
TARDBP | No evidence available | No evidence available |
GRCh38 GRCh37 |
239 | 350 | |
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
50 | 161 | |
AADACL3 | - | - | - |
GRCh38 GRCh37 |
18 | 65 |
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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053714.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024