ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3
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 |
419 | 559 | |
AKAIN1 | - | - |
GRCh38 GRCh37 |
4 | 126 | |
ANKRD12 | - | - |
GRCh38 GRCh37 |
113 | 218 | |
ANKRD62 | - | - | - |
GRCh38 GRCh37 |
2 | 97 |
APCDD1 | - | - |
GRCh38 GRCh37 |
106 | 209 | |
ARHGAP28 | - | - |
GRCh38 GRCh37 |
36 | 163 | |
CEP192 | - | - |
GRCh38 GRCh37 |
155 | 246 | |
CEP76 | - | - | - |
GRCh38 GRCh37 |
- | 129 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003987269.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024