ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q21.3-22.1(chr4:87067415-88158276)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 | |||
PKD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
818 | 1049 | |
HSD17B13 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
25 | 54 | |
DSPP | No evidence available | No evidence available |
GRCh38 GRCh37 |
499 | 527 | |
ABCG2 | - | - |
GRCh38 GRCh37 |
44 | 71 | |
AFF1 | - | - |
GRCh38 GRCh37 |
113 | 148 | |
DMP1 | - | - |
GRCh38 GRCh37 |
214 | 242 | |
HSD17B11 | - | - |
GRCh38 GRCh37 |
13 | 41 | |
IBSP | - | - |
GRCh38 GRCh37 |
14 | 42 | |
KLHL8 | - | - |
GRCh38 GRCh37 |
24 | 56 | |
LOC110283621 | - | - | - | GRCh38 | - | 8 |
There are 24 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
|
Uncertain significance (1) |
|
Aug 5, 2011 | RCV000134183.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024