ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)
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 |
1775 | 1832 | |
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 71 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 | RCV000767768.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022