ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1
Germline
Classification
(2)
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 | |||
TGIF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
144 | 284 | |
ADCYAP1 | - | - |
GRCh38 GRCh37 |
11 | 163 | |
AKAIN1 | - | - |
GRCh38 GRCh37 |
4 | 126 | |
ANKRD12 | - | - |
GRCh38 GRCh37 |
97 | 202 | |
APCDD1 | - | - |
GRCh38 GRCh37 |
100 | 203 | |
ARHGAP28 | - | - |
GRCh38 GRCh37 |
33 | 160 | |
ARHGAP28-AS1 | - | - | - | GRCh38 | - | 43 |
CETN1 | - | - |
GRCh38 GRCh37 |
6 | 159 | |
CLUL1 | - | - |
GRCh38 GRCh37 |
25 | 185 | |
COLEC12 | - | - |
GRCh38 GRCh37 |
45 | 193 |
There are 237 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 |
---|---|---|---|---|
See cases
|
Pathogenic (2) |
|
May 7, 2013 | RCV000137105.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024