ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
TGIF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
144 | 284 | |
ADCYAP1 | - | - |
GRCh38 GRCh37 |
11 | 163 | |
AFG3L2 | - | - |
GRCh38 GRCh37 |
418 | 556 | |
AKAIN1 | - | - |
GRCh38 GRCh37 |
- | - | |
ANKRD12 | - | - |
GRCh38 GRCh37 |
97 | 202 | |
ANKRD62 | - | - | - |
GRCh38 GRCh37 |
- | 97 |
APCDD1 | - | - |
GRCh38 GRCh37 |
- | 203 | |
ARHGAP28 | - | - |
GRCh38 GRCh37 |
- | 160 | |
CEP192 | - | - |
GRCh38 GRCh37 |
136 | - | |
CEP76 | - | - | - |
GRCh38 GRCh37 |
- | 123 |
There are 55 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) |
|
Jan 20, 2016 | RCV000239938.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022