Total 50 pathogenic variants reported for Marinesco-Sjögren syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_022464.5(SIL1):c.645+1G>A SNV
Germline		 Chr5:139026800 Pathogenic Marinesco-Sjögren syndrome No Assertion Criteria Provided
 CA252367

1 SubmittersRCV000002741
NM_022464.5(SIL1):c.645+2T>C SNV
Germline		 Chr5:139026799 Likely pathogenic Marinesco-Sjögren syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA252368

4 SubmittersRCV000002742
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter) SNV
Germline		 Chr5:139050960 Pathogenic Marinesco-Sjögren syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA252369

3 SubmittersRCV000002743
NM_022464.5(SIL1):c.1029+1G>A SNV
Germline		 Chr5:138951170 Pathogenic Marinesco-Sjögren syndrome No Assertion Criteria Provided
 CA252372

1 SubmittersRCV000002744
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter) SNV
Germline		 Chr5:138947191 Pathogenic Marinesco-Sjögren syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA223722 rs_119456966

3 SubmittersRCV000002745RCV000082150
NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro) SNV
Germline		 Chr5:138947133 Pathogenic Marinesco-Sjögren syndrome No Assertion Criteria Provided
 CA252373

1 SubmittersRCV000002746
NM_022464.5(SIL1):c.1029+7G>A SNV
Germline		 Chr5:138951164 Conflicting classifications of pathogenicity Condition: not provided
Marinesco-Sjögren syndrome		 Criteria Provided
Conflicting Classifications
 CA223718 rs_371041584

2 SubmittersRCV000082148RCV002513845
NM_022464.5(SIL1):c.849C>T (p.Leu283=) SNV
Germline		 Chr5:138951803 Conflicting classifications of pathogenicity Condition: not provided
Marinesco-Sjögren syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA247800 rs_372816951

4 SubmittersRCV000180365RCV002516817RCV004998387
NM_022464.5(SIL1):c.984C>T (p.Leu328=) SNV
Germline		 Chr5:138951216 Conflicting classifications of pathogenicity not specified
Condition: not provided
Marinesco-Sjögren syndrome		 Criteria Provided
Conflicting Classifications
 CA248223 rs_368666457

4 SubmittersRCV000180682RCV000713301RCV001088828
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) SNV
Germline		 Chr5:138947464 Conflicting classifications of pathogenicity not specified
Marinesco-Sjögren syndrome		 Criteria Provided
Conflicting Classifications
 CA248870 rs_73265454

4 SubmittersRCV000202671RCV000872718
NM_022464.5(SIL1):c.1030-9G>A SNV
Germline		 Chr5:138947482 Pathogenic/Likely pathogenic Condition: not provided
See cases
Marinesco-Sjögren syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3432382 rs_370290043

7 SubmittersRCV000277678RCV002252076RCV001782768
NM_022464.5(SIL1):c.573G>A (p.Lys191=) SNV
Germline		 Chr5:139026873 Conflicting classifications of pathogenicity not specified
Condition: not provided
Marinesco-Sjögren syndrome		 Criteria Provided
Conflicting Classifications
 CA3432547 rs_148927511

5 SubmittersRCV000282493RCV000724927RCV001085966
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) SNV
Germline		 Chr5:138947336 Conflicting classifications of pathogenicity Condition: not provided
Marinesco-Sjögren syndrome
SIL1-related disorder		 Criteria Provided
Conflicting Classifications
 CA3432357 rs_199890503

7 SubmittersRCV000725744RCV001078848RCV003940013
NM_022464.5(SIL1):c.933G>A (p.Gly311=) SNV
Germline		 Chr5:138951267 Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3432438 rs_61744666

5 SubmittersRCV000293801RCV000431243RCV000876397
NM_022464.5(SIL1):c.615G>A (p.Ala205=) SNV
Germline		 Chr5:139026831 Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome Criteria Provided
Conflicting Classifications
 CA3432542

2 SubmittersRCV000319927
NM_022464.5(SIL1):c.196G>A (p.Val66Ile) SNV
Germline		 Chr5:139121083 Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome Criteria Provided
Conflicting Classifications
 CA3432663

2 SubmittersRCV000367526
NM_022464.5(SIL1):c.1017G>C (p.Leu339=) SNV
Germline		 Chr5:138951183 Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10622890 rs_769587333

3 SubmittersRCV000399048RCV001770278
NM_022464.5(SIL1):c.699T>C (p.Asn233=) SNV
Germline		 Chr5:139021239 Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3432508 rs_140891877

4 SubmittersRCV000262396RCV000878768RCV000518359
NM_022464.5(SIL1):c.192C>T (p.Ala64=) SNV
Germline		 Chr5:139121087 Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3432664 rs_148651377

3 SubmittersRCV000275283RCV003437117
NM_022464.5(SIL1):c.1120T>C (p.Trp374Arg) SNV
Germline		 Chr5:138947383 Conflicting classifications of pathogenicity not specified
Marinesco-Sjögren syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA128236517 rs_1021273983

3 SubmittersRCV000516993RCV001299249RCV004023522
NM_022464.5(SIL1):c.741G>A (p.Ala247=) SNV
Germline		 Chr5:139021197 Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome
SIL1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_773520401

3 SubmittersRCV001336058RCV003943013
NM_022464.5(SIL1):c.930C>T (p.Leu310=) SNV
Germline		 Chr5:138951270 Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_147797471

3 SubmittersRCV001157707RCV001664712
NM_022464.5(SIL1):c.132G>A (p.Glu44=) SNV
Germline		 Chr5:139121147 Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV001153607
NM_022464.5(SIL1):c.645+15C>T SNV
Germline		 Chr5:139026786 Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV001153509
NM_022464.5(SIL1):c.1321G>T (p.Glu441Ter) SNV
Unknown		 Chr5:138947182 Pathogenic Marinesco-Sjögren syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001329282
NM_022464.5(SIL1):c.1005G>A (p.Leu335=) SNV
Germline		 Chr5:138951195 Conflicting classifications of pathogenicity Condition: not provided
Marinesco-Sjögren syndrome		 Criteria Provided
Conflicting Classifications
 rs_751082361

2 SubmittersRCV001753968RCV003497933
NM_022464.5(SIL1):c.914G>A (p.Arg305Gln) SNV
Germline		 Chr5:138951286 Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV001975867RCV004956035
NM_022464.5(SIL1):c.353+1G>T SNV
Germline		 Chr5:139050937 Likely pathogenic Marinesco-Sjögren syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002031734
NM_022464.5(SIL1):c.767+1G>A SNV
Germline		 Chr5:139021170 Pathogenic Marinesco-Sjögren syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002284294
NM_022464.5(SIL1):c.1030-9G>T SNV
Germline		 Chr5:138947482 Conflicting classifications of pathogenicity Condition: not provided
Marinesco-Sjögren syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002508651RCV003775556
NM_022464.5(SIL1):c.1030-18G>A SNV
Germline		 Chr5:138947491 Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV003060014
NM_022464.5(SIL1):c.430A>G (p.Met144Val) SNV
Germline		 Chr5:139042643 Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV002904547
NM_022464.5(SIL1):c.9C>G (p.Pro3=) SNV
Germline		 Chr5:139127835 Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002961934RCV003482431
NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter) SNV
Germline		 Chr5:138947254 Likely pathogenic Marinesco-Sjögren syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003134012
NM_022464.5(SIL1):c.135G>A (p.Lys45=) SNV
Germline		 Chr5:139121144 Conflicting classifications of pathogenicity Condition: not provided
Marinesco-Sjögren syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003482879RCV003605879