SIL1 Chromosome 5

SIL1 nucleotide exchange factor
53 variants 53 Health Risk

Upload your DNA to see your personal genotypes for variants in SIL1.

What This Gene Does
This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
5q31.2
Ensembl
ENSG00000120725
Associated Conditions (4)
Marinesco-Sjögren syndrome
Inborn genetic diseases
SIL1-related disorder
See cases
Key Variants
RS1021273983
Conflicting classifications of pathogenicity
Marinesco-Sjögren syndrome, Inborn genetic diseases, Marinesco-Sjögren syndrome
Health Risk
RS1190109793
Conflicting classifications of pathogenicity
Marinesco-Sjögren syndrome, Inborn genetic diseases, Marinesco-Sjögren syndrome
Health Risk
RS1197539689
Conflicting classifications of pathogenicity
Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
Health Risk
RS140891877
Conflicting classifications of pathogenicity
Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
Health Risk
RS147194912
Conflicting classifications of pathogenicity
Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
Health Risk
RS147797471
Conflicting classifications of pathogenicity
Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
Health Risk
RS148651377
Conflicting classifications of pathogenicity
Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
Health Risk
RS148927511
Conflicting classifications of pathogenicity
Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
Health Risk
RS199707852
Conflicting classifications of pathogenicity
Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
Health Risk
RS199890503
Conflicting classifications of pathogenicity
Marinesco-Sjögren syndrome, SIL1-related disorder, Marinesco-Sjögren syndrome
Health Risk
RS201546394
Conflicting classifications of pathogenicity
Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
Health Risk
RS368666457
Conflicting classifications of pathogenicity
Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
Health Risk
All Variants (53)
RSID Category Clinical Significance Conditions
RS1021273983 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Inborn genetic diseases, Marinesco-Sjögren syndrome
RS1190109793 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Inborn genetic diseases, Marinesco-Sjögren syndrome
RS1197539689 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS140891877 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS147194912 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS147797471 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS148651377 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS148927511 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS199707852 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS199890503 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, SIL1-related disorder, Marinesco-Sjögren syndrome
RS201546394 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS368666457 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS369172475 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS370290043 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, See cases, Marinesco-Sjögren syndrome
RS371041584 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS372816951 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS372908895 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Inborn genetic diseases, Marinesco-Sjögren syndrome
RS376395729 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS61744666 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS73265454 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS751082361 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS769052639 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS769587333 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS773520401 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, SIL1-related disorder, Marinesco-Sjögren syndrome
RS909846146 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS1272520734 Health Risk Likely pathogenic —
RS1355037102 Health Risk Likely pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS2534009501 Health Risk Likely pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS2546345169 Health Risk Likely pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS2546366412 Health Risk Likely pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS368867955 Health Risk Likely pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS119456965 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS119456966 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS119456967 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS1411719761 Health Risk Pathogenic —
RS1561799392 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS1768517145 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS2534009524 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS2546340450 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS2546340528 Health Risk Pathogenic —
RS2546421757 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS2546421783 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS587776544 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS749423210 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS751236516 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS767943814 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS774441811 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS777752978 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS779649580 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS794726659 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
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