ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_210636797)_(213403254_?)del
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 | |||
ACADL | - | - |
GRCh38 GRCh37 |
49 | 76 | |
CPS1 | - | - |
GRCh38 GRCh37 |
1923 | 1953 | |
ERBB4 | - | - |
GRCh38 GRCh37 |
545 | 570 | |
KANSL1L | - | - |
GRCh38 GRCh37 |
36 | 71 | |
LANCL1 | - | - |
GRCh38 GRCh37 |
8 | 62 | |
MYL1 | - | - |
GRCh38 GRCh37 |
31 | 57 | |
RPE | - | - |
GRCh38 GRCh37 |
4 | 30 | |
UNC80 | - | - |
GRCh38 GRCh37 |
2020 | 2178 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 25, 2022 | RCV003122874.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 18, 2023