ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)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 |
1762 | 1819 | |
AKT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
162 | 172 | |
CEBPA | No evidence available | No evidence available |
GRCh38 GRCh37 |
932 | 1002 | |
RYR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
8839 | 9149 | |
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 |
338 | 379 | |
ALKBH6 | - | - |
GRCh38 GRCh37 |
11 | 29 | |
ANKRD27 | - | - |
GRCh38 GRCh37 |
66 | 82 |
There are 247 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) |
|
Aug 18, 2021 | RCV001801194.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023