ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1
Germline
Classification
(1)
Pathogenic
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 |
1762 | 1819 | |
CEBPA | No evidence available | No evidence available |
GRCh38 GRCh37 |
932 | 1002 | |
SCN1B | No evidence available | No evidence available |
GRCh38 GRCh37 |
570 | 590 | |
ALKBH6 | - | - |
GRCh38 GRCh37 |
11 | 29 | |
ANKRD27 | - | - |
GRCh38 GRCh37 |
66 | 82 | |
APLP1 | - | - |
GRCh38 GRCh37 |
35 | 50 | |
ARHGAP33 | - | - |
GRCh38 GRCh37 |
79 | 96 | |
ATP4A | - | - |
GRCh38 GRCh37 |
134 | 152 | |
C19orf12 | - | - |
GRCh38 GRCh37 |
277 | 318 | |
CAPNS1 | - | - |
GRCh38 GRCh37 |
20 | 38 |
There are 451 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 20, 2010 | RCV000135879.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024