ClinVar Genomic variation as it relates to human health
NC_000015.9:g.(?_44855319)_(45898712_?)dup
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 | |||
B2M | - | - |
GRCh38 GRCh38 GRCh37 |
55 | 71 | |
BLOC1S6 | - | - |
GRCh38 GRCh37 |
179 | 196 | |
C15orf48 | - | - |
GRCh38 GRCh37 |
1 | 24 | |
DUOX1 | - | - |
GRCh38 GRCh37 |
101 | 126 | |
DUOX2 | - | - |
GRCh38 GRCh37 |
1890 | 1917 | |
DUOXA1 | - | - |
GRCh38 GRCh37 |
25 | 62 | |
DUOXA2 | - | - |
GRCh38 GRCh37 |
59 | 97 | |
GATM | - | - |
GRCh38 GRCh37 |
503 | 590 | |
PATL2 | - | - |
GRCh38 GRCh38 GRCh37 |
54 | 73 | |
SHF | - | - |
GRCh38 GRCh37 |
24 | 56 |
There are 7 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) |
|
Oct 12, 2020 | RCV001304383.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022