ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p15.2-15.1(chr5:10212880-16770474)x3
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 |
1217 | 1394 | |
CTNND2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
271 | 383 | |
ANKH | No evidence available | No evidence available |
GRCh38 GRCh37 |
207 | 556 | |
ANKRD33B | - | - | - |
GRCh38 GRCh37 |
45 | 151 |
ATPSCKMT | - | - |
GRCh38 GRCh37 |
15 | 117 | |
CCT5 | - | - |
GRCh38 GRCh37 |
310 | 413 | |
CMBL | - | - |
GRCh38 GRCh37 |
24 | 125 | |
CTD-2154B17.1 | - | - | - | GRCh38 | - | 42 |
CTD-2350J17.1 | - | - | - | GRCh38 | - | 38 |
DAP | - | - |
GRCh38 GRCh37 |
6 | 112 |
There are 148 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) |
|
Dec 22, 2010 | RCV000136902.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024