ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p21.1(chr6:42548155-43053728)x3
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 | |||
PPP2R5D | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
449 | 503 | |
BICRAL | - | - |
GRCh38 GRCh37 |
61 | 72 | |
C6orf226 | - | - | - |
GRCh38 GRCh37 |
- | 12 |
CNPY3 | - | - |
GRCh38 GRCh37 |
- | 49 | |
CUL7 | - | - |
GRCh38 GRCh37 |
722 | 748 | |
GNMT | - | - |
GRCh38 GRCh37 |
- | 116 | |
KLC4 | - | - | - |
GRCh38 GRCh37 |
44 | 56 |
KLHDC3 | - | - |
GRCh38 GRCh37 |
11 | 23 | |
MEA1 | - | - |
GRCh38 GRCh37 |
13 | 57 | |
MRPL2 | - | - |
GRCh38 GRCh37 |
18 | 32 |
There are 8 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) |
|
Jun 9, 2020 | RCV001834401.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022