ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)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 | |||
POLD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4936 | 4986 | |
SHANK1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
348 | 365 | |
KLK12 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
29 | 44 | |
ACP4 | - | - |
GRCh38 GRCh37 |
58 | 81 | |
ASPDH | - | - | - |
GRCh38 GRCh37 |
24 | 41 |
C19orf81 | - | - | - |
GRCh38 GRCh37 |
1 | 20 |
CD33 | - | - |
GRCh38 GRCh37 |
45 | 62 | |
CLDND2 | - | - | - |
GRCh38 GRCh37 |
14 | 33 |
CLEC11A | - | - |
GRCh38 GRCh37 |
21 | 38 | |
CTU1 | - | - |
GRCh38 GRCh37 |
32 | 47 |
There are 38 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) |
|
Aug 1, 2018 | RCV001007055.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023