ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1
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 | |||
ABHD16B | - | - |
GRCh38 GRCh37 |
- | 94 | |
DNAJC5 | - | - |
GRCh38 GRCh37 |
386 | 443 | |
LIME1 | - | - |
GRCh38 GRCh37 |
12 | 76 | |
LKAAEAR1 | - | - | - |
GRCh38 GRCh37 |
- | 63 |
MYT1 | - | - |
GRCh38 GRCh38 GRCh37 |
110 | 161 | |
NPBWR2 | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 71 | |
OPRL1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 77 | |
PCMTD2 | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 59 | |
PRPF6 | - | - |
GRCh38 GRCh37 |
572 | 671 | |
RGS19 | - | - |
GRCh38 GRCh37 |
15 | 59 |
There are 9 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 12, 2023 | RCV003483370.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024