ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3
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 | |||
GATA6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
568 | 602 | |
TGIF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
147 | 287 | |
ABHD3 | - | - |
GRCh38 GRCh37 |
15 | 53 | |
ADCYAP1 | - | - |
GRCh38 GRCh37 |
11 | 163 | |
AFG3L2 | - | - |
GRCh38 GRCh37 |
424 | 564 | |
AKAIN1 | - | - |
GRCh38 GRCh37 |
4 | 126 | |
ANKRD12 | - | - |
GRCh38 GRCh37 |
113 | 218 | |
ANKRD29 | - | - | - |
GRCh38 GRCh37 |
29 | 68 |
ANKRD30B | - | - |
GRCh38 GRCh37 |
110 | 185 | |
ANKRD62 | - | - | - |
GRCh38 GRCh37 |
2 | 97 |
There are 87 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) |
|
Aug 11, 2020 | RCV001832915.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022