ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q22.1-23(chr18:61994711-74293556)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 | |||
ZNF407 | No evidence available | No evidence available |
GRCh38 GRCh37 |
281 | 496 | |
C18orf63 | - | - | - |
GRCh38 GRCh37 |
3 | 158 |
CBLN2 | - | - |
GRCh38 GRCh37 |
14 | 160 | |
CCDC102B | - | - | - |
GRCh38 GRCh37 |
42 | 194 |
CD226 | - | - |
GRCh38 GRCh37 |
16 | 157 | |
CDH19 | - | - |
GRCh38 GRCh37 |
83 | 201 | |
CDH7 | - | - |
GRCh38 GRCh37 |
66 | 185 | |
CNDP1 | - | - |
GRCh38 GRCh37 |
41 | 206 | |
CNDP2 | - | - |
GRCh38 GRCh37 |
45 | 211 | |
CYB5A | - | - |
GRCh38 GRCh37 |
9 | 168 |
There are 13 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 15, 2019 | RCV001007010.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022