ClinVar Genomic variation as it relates to human health
NC_000004.11:g.(?_38765721)_(39478735_?)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 | |||
FAM114A1 | - | - | - |
GRCh38 GRCh37 |
30 | 51 |
KLB | - | - |
GRCh38 GRCh37 |
129 | 169 | |
KLHL5 | - | - |
GRCh38 GRCh37 |
30 | 52 | |
LIAS | - | - |
GRCh38 GRCh37 |
371 | 439 | |
RFC1 | - | - |
GRCh38 GRCh37 |
100 | 127 | |
RPL9 | - | - |
GRCh38 GRCh37 |
63 | 97 | |
TLR1 | - | - |
GRCh38 GRCh37 |
84 | 105 | |
TLR10 | - | - |
GRCh38 GRCh37 |
45 | 66 | |
TLR6 | - | - |
GRCh38 GRCh37 |
52 | 73 | |
TMEM156 | - | - | - |
GRCh38 GRCh37 |
14 | 34 |
There is 1 more gene 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) |
|
Mar 6, 2022 | RCV003113872.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023