ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3
Germline
Classification
(1)
Likely 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 | |||
SDHAF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
566 | 582 | |
AHNAK | - | - |
GRCh38 GRCh37 |
505 | 522 | |
APLNR | - | - |
GRCh38 GRCh37 |
28 | 41 | |
ASRGL1 | - | - |
GRCh38 GRCh37 |
253 | 267 | |
ATL3 | - | - |
GRCh38 GRCh37 |
411 | 467 | |
B3GAT3 | - | - |
GRCh38 GRCh37 |
238 | 255 | |
BEST1 | - | - |
GRCh38 GRCh37 |
816 | 883 | |
BSCL2 | - | - |
GRCh38 GRCh37 |
3 | 562 | |
BTBD18 | - | - | - |
GRCh38 GRCh37 |
- | 43 |
CBLIF | - | - |
GRCh38 GRCh37 |
145 | 154 |
There are 217 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV003986918.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024