ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1
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 |
1764 | 1821 | |
ALKBH6 | - | - |
GRCh38 GRCh37 |
11 | 29 | |
APLP1 | - | - |
GRCh38 GRCh37 |
35 | 50 | |
ARHGAP33 | - | - |
GRCh38 GRCh37 |
79 | 96 | |
CAPNS1 | - | - |
GRCh38 GRCh37 |
20 | 38 | |
CLIP3 | - | - |
GRCh38 GRCh37 |
- | 51 | |
COX6B1 | - | - |
GRCh38 GRCh37 |
51 | 70 | |
COX7A1 | - | - |
GRCh38 GRCh37 |
7 | 25 | |
HCST | - | - |
GRCh38 GRCh37 |
3 | 19 | |
HSPB6 | - | - |
GRCh38 GRCh37 |
11 | 29 |
There are 31 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) |
|
Jun 23, 2014 | RCV000511504.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024