ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)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 |
147 | 287 | |
ADCYAP1 | - | - |
GRCh38 GRCh37 |
11 | 163 | |
AFG3L2 | - | - |
GRCh38 GRCh37 |
425 | 565 | |
AKAIN1 | - | - |
GRCh38 GRCh37 |
4 | 126 | |
ANKRD12 | - | - |
GRCh38 GRCh37 |
113 | 218 | |
ANKRD30B | - | - |
GRCh38 GRCh37 |
110 | 185 | |
ANKRD62 | - | - | - |
GRCh38 GRCh37 |
2 | 97 |
APCDD1 | - | - |
GRCh38 GRCh37 |
106 | 209 | |
ARHGAP28 | - | - |
GRCh38 GRCh37 |
36 | 163 | |
CEP192 | - | - |
GRCh38 GRCh37 |
155 | 247 |
There are 57 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) |
|
May 10, 2017 | RCV000515578.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022