ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q15.2-15.3(chr15:43215243-44632384)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
PPIP5K1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
27 | 54 | |
ADAL | - | - |
GRCh38 GRCh37 |
13 | 40 | |
CATSPER2 | - | - |
GRCh38 GRCh37 |
55 | 116 | |
CCNDBP1 | - | - |
GRCh38 GRCh37 |
19 | 41 | |
CKMT1A | - | - |
GRCh38 GRCh37 |
8 | 35 | |
CKMT1B | - | - |
GRCh38 GRCh37 |
11 | 49 | |
ELL3 | - | - |
GRCh38 GRCh37 |
22 | 39 | |
EPB42 | - | - |
GRCh38 GRCh37 |
195 | 217 | |
FRMD5 | - | - |
GRCh38 GRCh37 |
43 | 63 | |
GOLM2 | - | - | - |
GRCh38 GRCh37 |
30 | 47 |
There are 16 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 1, 2021 | RCV001829144.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 17, 2022