ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_35521725)_(36643309_?)del
Germline
Classification
(1)
Uncertain significance
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 | |
SCN1B | No evidence available | No evidence available |
GRCh38 GRCh37 |
570 | 590 | |
ALKBH6 | - | - |
GRCh38 GRCh37 |
11 | 29 | |
APLP1 | - | - |
GRCh38 GRCh37 |
35 | 50 | |
ARHGAP33 | - | - |
GRCh38 GRCh37 |
79 | 96 | |
ATP4A | - | - |
GRCh38 GRCh37 |
134 | 152 | |
CAPNS1 | - | - |
GRCh38 GRCh37 |
20 | 38 | |
CD22 | - | - |
GRCh38 GRCh37 |
54 | 78 | |
CLIP3 | - | - |
GRCh38 GRCh37 |
- | 51 | |
COX6B1 | - | - |
GRCh38 GRCh37 |
51 | 70 |
There are 46 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) |
|
Aug 12, 2021 | RCV001910265.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023