"Revvity Omics, Revvity"[submitter] AND "CRB1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96659	NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	CRB1	Deletion (inframe_deletion +1 more)	Autosomal recessive bestrophinopathy +9 more	GPathogenic/Likely pathogenic
Select item 265083	NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)	CRB1 (C195F +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +5 more	GPathogenic/Likely pathogenic
Select item 844387	NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer)	CRB1	Microsatellite (nonsense +2 more)	Retinitis pigmentosa 12 +2 more	GPathogenic/Likely pathogenic
Select item 955768	NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter)	CRB1 (Q392* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 12 +2 more	GPathogenic/Likely pathogenic
Select item 1426475	NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn)	CRB1 (D379N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 438073	NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	CRB1 (E710V +2 more)	Single nucleotide variant (missense variant +2 more)	Pigmented paravenous retinochoroidal atrophy +4 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)	Retinal dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 5736	NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)	CRB1 (K801* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy +4 more	GPathogenic
Select item 99886	NM_201253.3(CRB1):c.2671T>G (p.Cys891Gly)	CRB1 (C891G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 635156	NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter)	CRB1 (C891* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 99888	NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)	CRB1 (C896* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 12 +6 more	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 +7 more	GPathogenic
Select item 2440537	NM_201253.3(CRB1):c.3275G>A (p.Gly1092Asp)	CRB1 (G1068D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2021333	NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)	CRB1 (C1173G +3 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 1483461	NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn)	CRB1 (T1345N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 5740	NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)	CRB1 (A1262fs +3 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic