ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)
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 |
1814 | 1873 | |
SCN1B | No evidence available | No evidence available |
GRCh38 GRCh37 |
574 | 595 | |
ARHGAP33 | - | - |
GRCh38 GRCh37 |
96 | 114 | |
ATP4A | - | - |
GRCh38 GRCh37 |
140 | 159 | |
CD22 | - | - |
GRCh38 GRCh37 |
57 | 82 | |
COX6B1 | - | - |
GRCh38 GRCh37 |
52 | 72 | |
DMKN | - | - |
GRCh38 GRCh37 |
7 | 26 | |
ETV2 | - | - |
GRCh38 GRCh37 |
19 | 50 | |
FAM187B | - | - | - |
GRCh38 GRCh37 |
39 | 59 |
FFAR1 | - | - |
GRCh38 GRCh37 |
24 | 44 |
There are 36 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) |
|
Nov 1, 2018 | RCV000767769.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022