ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)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 | |||
KMT2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1775 | 1832 | |
AKT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
163 | 174 | |
CEBPA | No evidence available | No evidence available |
GRCh38 GRCh37 |
939 | 1009 | |
RYR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
8845 | 9157 | |
SCN1B | No evidence available | No evidence available |
GRCh38 GRCh37 |
570 | 590 | |
ACP7 | - | - |
GRCh38 GRCh37 |
3 | 14 | |
ACTMAP | - | - |
GRCh38 GRCh37 |
6 | 15 | |
ACTN4 | - | - |
GRCh38 GRCh38 GRCh37 |
341 | 382 | |
ALKBH6 | - | - |
GRCh38 GRCh37 |
11 | 29 | |
ANKRD27 | - | - |
GRCh38 GRCh37 |
66 | 82 |
There are 207 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) |
|
- | RCV003986115.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024