ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3
Germline
Classification
(1)
Pathogenic
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 | |||
LMTK3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
82 | 101 | |
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 | |
TNNI3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
694 | 754 | |
KLK12 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
26 | 41 | |
SIGLEC5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
36 | 52 | |
CNOT3 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
240 | 272 | |
FTL | No evidence available | No evidence available |
GRCh38 GRCh37 |
165 | 210 | |
ACP4 | - | - |
GRCh38 GRCh37 |
57 | 80 | |
ADM5 | - | - | - |
GRCh38 GRCh37 |
11 | 24 |
There are 300 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 14, 2020 | RCV001259944.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023