ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)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 | |||
DMD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9077 | 9366 | |
GK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
66 | 240 | |
IL1RAPL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
275 | 442 | |
NR0B1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
348 | 511 | |
FTHL17 | - | - |
GRCh38 GRCh37 |
8 | 173 | |
GK-AS1 | - | - | - | GRCh38 | - | 92 |
LOC108410393 | - | - | - | GRCh38 | - | 84 |
LOC113875019 | - | - | - | GRCh38 | - | 82 |
LOC116309149 | - | - | - | GRCh38 | - | 82 |
LOC116309150 | - | - | - | GRCh38 | - | 82 |
There are 35 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 16, 2017 | RCV000512729.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 20, 2024