ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p24.3-24.1(chr3:19064852-26448689)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 | |||
RPL15 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 155 | |
EFHB | - | - | - |
GRCh38 GRCh37 |
45 | 68 |
KAT2B | - | - |
GRCh38 GRCh37 |
99 | 123 | |
KCNH8 | - | - |
GRCh38 GRCh37 |
59 | 86 | |
NGLY1 | - | - |
GRCh38 GRCh37 |
803 | 834 | |
NKIRAS1 | - | - |
GRCh38 GRCh37 |
7 | 164 | |
NR1D2 | - | - |
GRCh38 GRCh37 |
26 | 45 | |
OXSM | - | - |
GRCh38 GRCh37 |
22 | 44 | |
PP2D1 | - | - | - |
GRCh38 GRCh37 |
1 | 26 |
RAB5A | - | - |
GRCh38 GRCh37 |
7 | 32 |
There are 7 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) |
|
Jan 26, 2018 | RCV000848353.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022