"Blueprint Genetics"[submitter] AND "CRB1"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866715	NM_201253.3(CRB1):c.71del (p.Asn24fs)	CRB1 (N24fs)	Deletion (frameshift variant +2 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 867214	NM_201253.3(CRB1):c.201_202del (p.Cys67_Asp68delinsTer)	CRB1	Microsatellite (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 812296	NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)	CRB1 (C83Y +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
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 866384	NM_201253.3(CRB1):c.506del (p.Gly169fs)	CRB1 (G169fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 12 +4 more	GPathogenic/Likely pathogenic
Select item 866194	NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)	CRB1 (C114R +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
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 99913	NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	CRB1 (I136fs +1 more)	Deletion (frameshift variant +1 more)	not provided +6 more	GPathogenic
Select item 867145	NM_201253.3(CRB1):c.629G>T (p.Cys210Phe)	CRB1 (C210F +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866627	NM_201253.3(CRB1):c.653-1G>T	CRB1	Single nucleotide variant (splice acceptor variant +1 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GPathogenic/Likely pathogenic
Select item 866804	NM_201253.3(CRB1):c.796T>A (p.Cys266Ser)	CRB1 (C197S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 866455	NM_201253.3(CRB1):c.872G>A (p.Ser291Asn)	CRB1 (S291N +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866628	NM_201253.3(CRB1):c.914G>C (p.Cys305Ser)	CRB1 (C305S +1 more)	Single nucleotide variant (missense variant +2 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GUncertain significance
Select item 866464	NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu)	CRB1 (Q280L +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 866126	NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro)	CRB1 (S302P +2 more)	Indel (missense variant +1 more)	Retinal dystrophy +3 more	GUncertain significance
Select item 866778	NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter)	CRB1 (Y375* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 866205	NM_201253.3(CRB1):c.1181G>A (p.Cys394Tyr)	CRB1 (C394Y +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 438069	NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)	CRB1 (E395* +2 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8 +3 more	GConflicting classifications of pathogenicity
Select item 865858	NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)	CRB1 (C450R +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +3 more	GLikely pathogenic
Select item 866829	NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)	CRB1 (G477R +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +4 more	GPathogenic/Likely pathogenic
Select item 866833	NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro)	CRB1 (L367P +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GPathogenic/Likely pathogenic
Select item 143167	NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)	CRB1 (R526* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 866629	NM_201253.3(CRB1):c.1640A>C (p.Gln547Pro)	CRB1 (Q547P +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 867150	NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs)	CRB1 (C522fs +2 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 866666	NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser)	CRB1 (P525S +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GUncertain significance
Select item 866912	NM_201253.3(CRB1):c.2092T>C (p.Cys698Arg)	CRB1 (C629R +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	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 867178	NM_201253.3(CRB1):c.2138C>T (p.Ala713Val)	CRB1 (A601V +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 635155	NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	CRB1 (R744* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8 +3 more	GPathogenic/Likely pathogenic
Select item 294676	NM_201253.3(CRB1):c.2230C>A (p.Arg744=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 5733	NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	CRB1 (T745M +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +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)	Retinal dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 866828	NM_201253.3(CRB1):c.2294T>C (p.Val765Ala)	CRB1 (V653A +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 840207	NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)	CRB1 (L655P +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +4 more	GConflicting classifications of pathogenicity
Select item 236478	NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)	CRB1 (G770S +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +3 more	GPathogenic/Likely pathogenic
Select item 866672	NM_201253.3(CRB1):c.2365_2367del (p.Asn789del)	CRB1 (N677del +2 more)	Deletion (inframe_deletion +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 866373	NM_201253.3(CRB1):c.2416G>T (p.Glu806Ter)	CRB1 (E694* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy +1 more	GPathogenic
Select item 866264	NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)	CRB1 (G721R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 372352	NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)	CRB1 (P836T +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +5 more	GPathogenic/Likely pathogenic
Select item 866717	NM_201253.3(CRB1):c.2521A>C (p.Thr841Pro)	CRB1 (T841P +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866526	NM_201253.3(CRB1):c.2632C>T (p.Leu878Phe)	CRB1 (L809F +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866665	NM_201253.3(CRB1):c.2671T>C (p.Cys891Arg)	CRB1 (C779R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 867210	NM_201253.3(CRB1):c.2676+1G>T	CRB1	Single nucleotide variant (splice donor variant +1 more)	Retinal dystrophy	GLikely pathogenic
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 236475	NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg)	CRB1 (G945R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 867118	NM_201253.3(CRB1):c.2834G>A (p.Gly945Glu)	CRB1 (G833E +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
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 866651	NM_201253.3(CRB1):c.2956A>T (p.Asn986Tyr)	CRB1 (N874Y +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 846589	NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)	CRB1 (D981V +2 more)	Single nucleotide variant (missense variant +2 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GPathogenic
Select item 866382	NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg)	CRB1 (W1034R +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
Select item 867209	NM_201253.3(CRB1):c.3101G>A (p.Trp1034Ter)	CRB1 (W1010* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 866293	NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr)	CRB1 (H1035Y +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 5730	NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)	CRB1 (M1041T +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +4 more	GPathogenic
Select item 866914	NM_201253.3(CRB1):c.3239T>C (p.Ile1080Thr)	CRB1 (I968T +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 5739	NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)	CRB1 (G1103R +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +4 more	GPathogenic
Select item 99897	NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)	CRB1 (L1107P +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +3 more	GPathogenic/Likely pathogenic
Select item 866662	NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)	CRB1 (G1039* +2 more)	Single nucleotide variant (nonsense +2 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GPathogenic/Likely pathogenic
Select item 866525	NM_201253.3(CRB1):c.3506G>A (p.Trp1169Ter)	CRB1 (W1145* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 866950	NM_201253.3(CRB1):c.3522_3523del (p.Cys1174_Glu1175delinsTer)	CRB1	Microsatellite (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 866855	NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)	CRB1 (C1106F +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 866431	NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser)	CRB1 (N1246S +3 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
Select item 865861	NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr)	CRB1 (C747Y +3 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GUncertain significance
Select item 865979	NM_201253.3(CRB1):c.3878+2dup	CRB1	Duplication (splice donor variant)	Retinal dystrophy +2 more	GLikely pathogenic
Select item 866294	NM_201253.3(CRB1):c.3880T>C (p.Cys1294Arg)	CRB1 (C1294R +3 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 377183	NM_201253.3(CRB1):c.3988del (p.Glu1330fs)	CRB1 (E1306fs +3 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 12 +4 more	GPathogenic/Likely 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
Select item 632096	NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys)	CRB1 (E1333K +3 more)	Single nucleotide variant (missense variant +1 more)	CRB1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 851764	NM_201253.3(CRB1):c.4006-10A>G	CRB1	Single nucleotide variant (intron variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic

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Items: 69