ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)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 | |||
CIC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
539 | 555 | |
ERF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
182 | 196 | |
KMT2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1737 | 1792 | |
RPS19 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
230 | 248 | |
LMTK3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
61 | 79 | |
AKT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
162 | 172 | |
CEBPA | No evidence available | No evidence available |
GRCh38 GRCh37 |
931 | 1001 | |
RYR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
8820 | 9127 | |
SCN1B | No evidence available | No evidence available |
GRCh38 GRCh37 |
568 | 588 | |
ACP7 | - | - |
GRCh38 GRCh37 |
1 | 12 |
There are 426 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) |
|
Oct 13, 2017 | RCV000845733.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023