SDCCAG8 Chromosome 1

SHH signaling and ciliogenesis regulator SDCCAG8
82 variants 82 Health Risk

Upload your DNA to see your personal genotypes for variants in SDCCAG8.

What This Gene Does
This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
1q43-q44
Ensembl
ENSG00000054282
Associated Conditions (11)
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Focal segmental glomerulosclerosis
SDCCAG8-related disorder
Bardet-Biedl syndrome
Kidney disorder
Retinal dystrophy
Sarcoma
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Renal dysplasia and retinal aplasia
Key Variants
RS1033766338
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Focal segmental glomerulosclerosis
Health Risk
RS118064970
Conflicting classifications of pathogenicity
Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
Health Risk
RS12080579
Conflicting classifications of pathogenicity
Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
Health Risk
RS138449445
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
Health Risk
RS140413256
Conflicting classifications of pathogenicity
Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Bardet-Biedl syndrome
Health Risk
RS143226730
Conflicting classifications of pathogenicity
Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
Health Risk
RS143407309
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, SDCCAG8-related disorder
Health Risk
RS146474568
Conflicting classifications of pathogenicity
Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
Health Risk
RS148818431
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
Health Risk
RS149359674
Conflicting classifications of pathogenicity
Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
Health Risk
RS150070966
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, SDCCAG8-related disorder
Health Risk
RS150646039
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, SDCCAG8-related disorder
Health Risk
All Variants (82)
RSID Category Clinical Significance Conditions
RS1033766338 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Focal segmental glomerulosclerosis
RS118064970 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
RS12080579 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS138449445 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS140413256 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Bardet-Biedl syndrome
RS143226730 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS143407309 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, SDCCAG8-related disorder
RS146474568 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
RS148818431 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS149359674 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
RS150070966 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, SDCCAG8-related disorder
RS150646039 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, SDCCAG8-related disorder
RS191821211 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS201869920 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
RS2068379887 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS2149268621 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS376414138 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Sarcoma
RS377256554 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
RS554190542 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS556191085 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Kidney disorder
RS6672843 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS750272621 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS754786846 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS755931555 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
RS757796329 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Inborn genetic diseases
RS759125934 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS772231725 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS781456866 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS79762798 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
RS1022080658 Health Risk Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS1442457872 Health Risk Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS1460888769 Health Risk Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS2068036602 Health Risk Likely pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS2070433656 Health Risk Likely pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS2147782314 Health Risk Likely pathogenic Bardet-Biedl syndrome, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS2528443064 Health Risk Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS2528455666 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2528456354 Health Risk Likely pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS2547851230 Health Risk Likely pathogenic Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis
RS2547886067 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS367572249 Health Risk Likely pathogenic Bardet-Biedl syndrome 16, Bardet-Biedl syndrome 16
RS747911477 Health Risk Likely pathogenic Senior-Loken syndrome 7, Senior-Loken syndrome 7
RS752046196 Health Risk Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
RS756907665 Health Risk Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, SDCCAG8-related disorder
RS959585740 Health Risk Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Bardet-Biedl syndrome 16
RS1236419449 Health Risk Pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS1270412613 Health Risk Pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS149038104 Health Risk Pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, Bardet-Biedl syndrome
RS1558264626 Health Risk Pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS1573920009 Health Risk Pathogenic Renal dysplasia and retinal aplasia, Renal dysplasia and retinal aplasia
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