ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)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 | |||
TRIO | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1224 | 1402 | |
CTNND2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
272 | 384 | |
DNAJC21 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
329 | 386 | |
TERT | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2967 | 3400 | |
SLC6A18 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
83 | 238 | |
ANKH | No evidence available | No evidence available |
GRCh38 GRCh37 |
207 | 557 | |
ADAMTS12 | - | - |
GRCh38 GRCh38 GRCh37 |
79 | 141 | |
ADAMTS16 | - | - |
GRCh38 GRCh37 |
81 | 201 | |
ADAMTS16-DT | - | - | - | GRCh38 | - | 48 |
ADCY2 | - | - |
GRCh38 GRCh37 |
43 | 152 |
There are 688 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) |
|
Aug 12, 2011 | RCV000051811.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024