ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3
Germline
Classification
(1)
Pathogenic
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 | |||
POLD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4815 | 4864 | |
SHANK1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
292 | 309 | |
TNNI3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
688 | 748 | |
KLK12 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
16 | 31 | |
SIGLEC5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
32 | 48 | |
CNOT3 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
230 | 261 | |
PEG3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 129 | |
ZIM2 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 143 |
ZNF264 | No evidence available | No evidence available |
GRCh38 GRCh37 |
37 | 59 | |
A1BG | - | - |
GRCh38 GRCh37 |
19 | 46 |
There are 753 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050883.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023