ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)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 |
143 | 283 | |
ADCYAP1 | - | - |
GRCh38 GRCh37 |
9 | 161 | |
AFG3L2 | - | - |
GRCh38 GRCh37 |
409 | 546 | |
AKAIN1 | - | - |
GRCh38 GRCh37 |
4 | 126 | |
ANKRD12 | - | - |
GRCh38 GRCh37 |
77 | 182 | |
ANKRD30B | - | - |
GRCh38 GRCh37 |
73 | 148 | |
ANKRD62 | - | - | - |
GRCh38 GRCh37 |
2 | 97 |
APCDD1 | - | - |
GRCh38 GRCh37 |
86 | 189 | |
ARHGAP28 | - | - |
GRCh38 GRCh37 |
26 | 153 | |
ARHGAP28-AS1 | - | - | - | GRCh38 | - | 43 |
There are 367 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052513.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023