ClinVar Genomic variation as it relates to human health
NC_000004.11:g.(?_55124936)_(57786056_?)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 | |||
KIT | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2883 | 2911 | |
AASDH | - | - |
GRCh38 GRCh37 |
70 | 93 | |
ARL9 | - | - |
GRCh38 GRCh37 |
9 | 30 | |
CEP135 | - | - |
GRCh38 GRCh37 |
451 | 474 | |
CLOCK | - | - |
GRCh38 GRCh37 |
24 | 71 | |
CRACD | - | - |
GRCh38 GRCh37 |
88 | 115 | |
EXOC1 | - | - |
GRCh38 GRCh37 |
36 | 61 | |
HOPX | - | - |
GRCh38 GRCh37 |
14 | 35 | |
KDR | - | - |
GRCh38 GRCh37 |
134 | 157 | |
NMU | - | - |
GRCh38 GRCh37 |
11 | 35 |
There are 10 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) |
|
Dec 4, 2023 | RCV004580693.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024