Total 13 pathogenic variants reported for Schnyder crystalline corneal dystrophy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_013319.3(UBIAD1):c.305A>G (p.Asn102Ser) SNV
Germline		 Chr1:11273836 Pathogenic Schnyder crystalline corneal dystrophy No Assertion Criteria Provided
 CA114575 rs_118203945

1 SubmittersRCV000000904
NM_013319.3(UBIAD1):c.529G>C (p.Gly177Arg) SNV
Germline		 Chr1:11274060 Pathogenic Schnyder crystalline corneal dystrophy No Assertion Criteria Provided
 CA114576 rs_118203946

1 SubmittersRCV000000905
NM_013319.3(UBIAD1):c.355A>G (p.Arg119Gly) SNV
Germline		 Chr1:11273886 Pathogenic Schnyder crystalline corneal dystrophy No Assertion Criteria Provided
 CA114577 rs_118203947

1 SubmittersRCV000000906
NM_013319.3(UBIAD1):c.524C>T (p.Thr175Ile) SNV
Germline		 Chr1:11274055 Pathogenic Schnyder crystalline corneal dystrophy No Assertion Criteria Provided
 CA114578 rs_118203948

1 SubmittersRCV000000907
NM_013319.3(UBIAD1):c.695A>G (p.Asn232Ser) SNV
Germline		 Chr1:11285809 Pathogenic Schnyder crystalline corneal dystrophy No Assertion Criteria Provided
 CA114579 rs_118203949

1 SubmittersRCV000000908
NM_013319.3(UBIAD1):c.335A>G (p.Asp112Gly) SNV
Germline		 Chr1:11273866 Pathogenic Schnyder crystalline corneal dystrophy No Assertion Criteria Provided
 CA114580 rs_118203950

1 SubmittersRCV000000909
NM_013319.3(UBIAD1):c.511T>C (p.Ser171Pro) SNV
Germline		 Chr1:11274042 Pathogenic Schnyder crystalline corneal dystrophy No Assertion Criteria Provided
 CA114581 rs_118203951

1 SubmittersRCV000000910
NM_013319.3(UBIAD1):c.556G>A (p.Gly186Arg) SNV
Germline		 Chr1:11285670 Pathogenic Schnyder crystalline corneal dystrophy No Assertion Criteria Provided
 CA114582 rs_118203952

1 SubmittersRCV000000911
NM_013319.3(UBIAD1):c.708C>G (p.Asp236Glu) SNV
Germline		 Chr1:11285822 Pathogenic Schnyder crystalline corneal dystrophy No Assertion Criteria Provided
 CA114583 rs_118203953

1 SubmittersRCV000000912
NM_013319.3(UBIAD1):c.530G>A (p.Gly177Glu) SNV
Germline		 Chr1:11285644 Likely pathogenic Schnyder crystalline corneal dystrophy
Condition: not provided		 Criteria Provided
Single Submitter
 CA130837 rs_397514669

2 SubmittersRCV000034310RCV004696646
NM_013319.3(UBIAD1):c.116A>G (p.Gln39Arg) SNV
Germline		 Chr1:11273647 Conflicting classifications of pathogenicity Schnyder crystalline corneal dystrophy
not specified		 Criteria Provided
Conflicting Classifications
 rs_761963387

2 SubmittersRCV001098378RCV004032039
NM_013319.3(UBIAD1):c.718G>A (p.Asp240Asn) SNV
Germline		 Chr1:11285832 Likely pathogenic Schnyder crystalline corneal dystrophy Criteria Provided
Single Submitter
 rs_371811409

1 SubmittersRCV001731228
NM_013319.3(UBIAD1):c.362T>G (p.Leu121Arg) SNV
Germline		 Chr1:11273893 Likely pathogenic Schnyder crystalline corneal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV004788594