ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.13(chr1:17284531-17770100)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 | |||
SDHB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1327 | 1445 | |
ATP13A2 | - | - |
GRCh38 GRCh38 GRCh37 |
1040 | 1076 | |
CROCC | - | - |
GRCh38 GRCh38 GRCh37 |
246 | 276 | |
MFAP2 | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 35 | |
PADI1 | - | - |
GRCh38 GRCh38 GRCh37 |
52 | 76 | |
PADI2 | - | - |
GRCh38 GRCh38 GRCh37 |
54 | 86 | |
PADI3 | - | - |
GRCh38 GRCh38 GRCh37 |
96 | 120 | |
PADI4 | - | - |
GRCh38 GRCh38 GRCh37 |
64 | 88 | |
PADI6 | - | - |
GRCh38 GRCh38 GRCh37 |
77 | 113 | |
RCC2 | - | - |
GRCh38 GRCh38 GRCh37 |
21 | 46 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 6, 2020 | RCV001836603.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023