ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
KMT2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1779 | 1837 | |
ALKBH6 | - | - |
GRCh38 GRCh37 |
11 | 30 | |
APLP1 | - | - |
GRCh38 GRCh37 |
35 | 51 | |
ARHGAP33 | - | - |
GRCh38 GRCh37 |
79 | 97 | |
ATP4A | - | - |
GRCh38 GRCh37 |
134 | 153 | |
CLIP3 | - | - |
GRCh38 GRCh37 |
- | 52 | |
COX6B1 | - | - |
GRCh38 GRCh37 |
51 | 71 | |
ETV2 | - | - |
GRCh38 GRCh37 |
16 | 44 | |
GAPDHS | - | - |
GRCh38 GRCh37 |
13 | 52 | |
HAUS5 | - | - |
GRCh38 GRCh37 |
52 | 70 |
There are 20 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 1, 2021 | RCV001833065.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022