ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q22.2-23(chr18:67082104-78014123)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 | |||
GALR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
27 | 197 | |
ZNF407 | No evidence available | No evidence available |
GRCh38 GRCh37 |
306 | 525 | |
ADNP2 | - | - |
GRCh38 GRCh37 |
83 | 259 | |
ATP9B | - | - |
GRCh38 GRCh37 |
99 | 280 | |
C18orf63 | - | - | - |
GRCh38 GRCh37 |
3 | 158 |
CBLN2 | - | - |
GRCh38 GRCh37 |
16 | 162 | |
CD226 | - | - |
GRCh38 GRCh37 |
17 | 158 | |
CNDP1 | - | - |
GRCh38 GRCh37 |
51 | 216 | |
CNDP2 | - | - |
GRCh38 GRCh37 |
47 | 213 | |
CTDP1 | - | - |
GRCh38 GRCh38 GRCh37 |
551 | 736 |
There are 24 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) |
|
Sep 19, 2017 | RCV000684047.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022