ClinVar for MedGen (Select 351175) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13274411.	NM_001077620.3(PRCD):c.74+36C>G GRCh37: Chr17:74536333 GRCh38: Chr17:76540251	CYGB, PRCD		Retinitis pigmentosa 36	Benign (Oct 25, 2021)	criteria provided, single submitter
Select item 11845682.	NM_001077620.3(PRCD):c.143+1G>A GRCh37: Chr17:74536656 GRCh38: Chr17:76540574	CYGB, PRCD		Retinitis pigmentosa 36	Pathogenic	no assertion criteria provided
Select item 1430953.	NM_001077620.3(PRCD):c.2T>C (p.Met1Thr) GRCh37: Chr17:74536225 GRCh38: Chr17:76540143	CYGB, PRCD	M1T	not provided	Pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 370414.	NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter) GRCh37: Chr17:74536287 GRCh38: Chr17:76540205	PRCD, CYGB	R22*	Retinal dystrophy, not provided	Pathogenic (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11885.	NM_001077620.3(PRCD):c.5G>A (p.Cys2Tyr) GRCh37: Chr17:74536228 GRCh38: Chr17:76540146	CYGB, PRCD	C2Y	not provided	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter

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