ClinVar Genomic variation as it relates to human health
NC_000008.10:g.(?_124515613)_(126379127_?)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 | |||
ANXA13 | - | - |
GRCh38 GRCh37 |
28 | 80 | |
FAM91A1 | - | - | - |
GRCh38 GRCh37 |
31 | 83 |
FBXO32 | - | - |
GRCh38 GRCh37 |
31 | 85 | |
FER1L6 | - | - | - |
GRCh38 GRCh37 |
38 | 169 |
KLHL38 | - | - | - |
GRCh38 GRCh37 |
60 | 112 |
MTSS1 | - | - |
GRCh38 GRCh38 GRCh37 |
50 | 110 | |
NDUFB9 | - | - |
GRCh38 GRCh38 GRCh37 |
97 | 158 | |
NSMCE2 | - | - |
GRCh38 GRCh37 |
79 | 141 | |
RNF139 | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 83 | |
SQLE | - | - |
GRCh38 GRCh37 |
20 | 78 |
There are 5 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) |
|
Jan 26, 2022 | RCV003113842.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023