ClinVar Genomic variation as it relates to human health
NC_000008.10:g.(?_124515613)_(126379127_?)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 | |||
ANXA13 | - | - |
GRCh38 GRCh37 |
28 | 81 | |
FAM91A1 | - | - | - |
GRCh38 GRCh37 |
31 | 84 |
FBXO32 | - | - |
GRCh38 GRCh37 |
31 | 86 | |
FER1L6 | - | - | - |
GRCh38 GRCh37 |
38 | 170 |
KLHL38 | - | - | - |
GRCh38 GRCh37 |
60 | 113 |
MTSS1 | - | - |
GRCh38 GRCh38 GRCh37 |
50 | 111 | |
NDUFB9 | - | - |
GRCh38 GRCh38 GRCh37 |
97 | 159 | |
NSMCE2 | - | - |
GRCh38 GRCh37 |
79 | 142 | |
RNF139 | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 84 | |
SQLE | - | - |
GRCh38 GRCh37 |
20 | 79 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 15, 2023 | RCV004583371.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024