"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1283919	NM_201253.3(CRB1):c.20_23del (p.Asn7fs)	CRB1 (N7fs)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 12 +2 more	GPathogenic
Select item 1275767	NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer)	CRB1	Deletion (5 prime UTR variant +2 more)	not provided +2 more	GPathogenic
Select item 96659	NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	CRB1	Deletion (inframe_deletion +1 more)	CRB1-related maculopathy +11 more	GConflicting classifications of pathogenicity
Select item 285386	NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)	CRB1 (C394* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 99874	NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)	CRB1 (C681Y +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GPathogenic
Select item 5733	NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	CRB1 (T745M +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +5 more	GPathogenic/Likely pathogenic
Select item 5732	NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	CRB1 (R764C +2 more)	Single nucleotide variant (missense variant +2 more)	CRB1-related maculopathy +9 more	GPathogenic/Likely pathogenic
Select item 986905	NM_201253.3(CRB1):c.2812C>T (p.Gln938Ter)	CRB1 (Q826* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 39614	NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	CRB1 (C948Y +2 more)	Single nucleotide variant (missense variant +2 more)	CRB1-related disorder +9 more	GPathogenic
Select item 987281	NM_201253.3(CRB1):c.2914G>T (p.Glu972Ter)	CRB1 (E860* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 987002	NM_201253.3(CRB1):c.3541T>A (p.Cys1181Ser)	CRB1 (C1069S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 865928	NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)	CRB1 (R1219C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GPathogenic