ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)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 |
553 | 587 | |
TGIF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
144 | 284 | |
ABHD3 | - | - |
GRCh38 GRCh37 |
13 | 50 | |
ADCYAP1 | - | - |
GRCh38 GRCh37 |
11 | 163 | |
AFG3L2 | - | - |
GRCh38 GRCh37 |
416 | 553 | |
AKAIN1 | - | - |
GRCh38 GRCh37 |
4 | 126 | |
ANKRD12 | - | - |
GRCh38 GRCh37 |
97 | 202 | |
ANKRD29 | - | - | - |
GRCh38 GRCh37 |
24 | 63 |
ANKRD30B | - | - |
GRCh38 GRCh37 |
91 | 166 | |
ANKRD62 | - | - | - |
GRCh38 GRCh37 |
2 | 97 |
There are 76 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Dec 14, 2014 | RCV000512118.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024