ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1
Germline
Classification
(1)
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 | |||
TRIO | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1333 | 1519 | |
CTNND2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
284 | 396 | |
TERT | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2981 | 3424 | |
SLC6A18 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
86 | 243 | |
ANKH | No evidence available | No evidence available |
GRCh38 GRCh37 |
211 | 564 | |
ADAMTS16 | - | - |
GRCh38 GRCh37 |
89 | 211 | |
ADAMTS16-DT | - | - | - | GRCh38 | - | 48 |
ADCY2 | - | - |
GRCh38 GRCh37 |
45 | 154 | |
AHRR | - | - |
GRCh38 GRCh37 |
1 | 241 | |
ANKRD33B | - | - | - |
GRCh38 GRCh37 |
50 | 156 |
There are 548 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 (1) |
|
Jan 16, 2012 | RCV000138099.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024