ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.1(chr4:6518452-7723887)
Germline
Classification
(1)
Uncertain significance
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 | |||
BLOC1S4 | - | - |
GRCh38 GRCh37 |
17 | 99 | |
CCDC96 | - | - |
GRCh38 GRCh37 |
- | 35 | |
GRPEL1 | - | - |
GRCh38 GRCh37 |
15 | 95 | |
KIAA0232 | - | - |
GRCh38 GRCh37 |
75 | 156 | |
MAN2B2 | - | - |
GRCh38 GRCh37 |
136 | 220 | |
MRFAP1 | - | - |
GRCh38 GRCh37 |
9 | 92 | |
MRFAP1L1 | - | - | - |
GRCh38 GRCh37 |
2 | 94 |
PPP2R2C | - | - |
GRCh38 GRCh37 |
17 | 103 | |
PSAPL1 | - | - | - |
GRCh38 GRCh37 |
- | 134 |
S100P | - | - |
GRCh38 GRCh37 |
8 | 90 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053405.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022