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 SubmittersRCV000034310 RCV004696646
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 SubmittersRCV001098378 RCV004032039
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