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 |
4875 | 4924 | |
SHANK1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
317 | 334 | |
KLK12 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
26 | 41 | |
ACP4 | - | - |
GRCh38 GRCh37 |
57 | 80 | |
ASPDH | - | - | - |
GRCh38 GRCh37 |
24 | 41 |
C19orf81 | - | - | - |
GRCh38 GRCh37 |
1 | 20 |
CD33 | - | - |
GRCh38 GRCh37 |
43 | 60 | |
CLDND2 | - | - | - |
GRCh38 GRCh37 |
13 | 32 |
CLEC11A | - | - |
GRCh38 GRCh37 |
19 | 36 | |
CTU1 | - | - |
GRCh38 GRCh37 |
28 | 43 |
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