C0339527[trait identifier] AND "Sharon lab, Hadassah-Hebrew University - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 37134	NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	NMNAT1 (E257K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 812408	NM_000329.3(RPE65):c.227A>C (p.His76Pro)	RPE65 (H76P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GPathogenic
Select item 98899	NM_000329.3(RPE65):c.95-2A>T	RPE65	Single nucleotide variant (splice acceptor variant +1 more)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 99330	NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	ABCA4, LOC126805793 (R1640W +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +6 more	GPathogenic/Likely pathogenic; other
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 99866	NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)	CRB1 (C383Y +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy +2 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 812298	NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)	CRB1 (V466E +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GConflicting classifications of pathogenicity
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 99883	NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)	CRB1 (I852T +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 812301	NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs)	CRB1 (N782fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis	GPathogenic
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 812303	NM_201253.3(CRB1):c.4005+1G>A	CRB1	Single nucleotide variant (non-coding transcript variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
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
Select item 812437	NM_003322.6(TULP1):c.1495+2dup	TULP1	Duplication (splice donor variant)	not provided	GPathogenic
Select item 812438	NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)	TULP1 (W450* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 812441	NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs)	TULP1 (E225fs +1 more)	Insertion (frameshift variant)	Leber congenital amaurosis	GPathogenic
Select item 812442	NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs)	TULP1 (K261fs +1 more)	Insertion (frameshift variant)	Leber congenital amaurosis	GPathogenic
Select item 812443	NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter)	TULP1 (K124* +1 more)	Insertion (nonsense)	Leber congenital amaurosis	GPathogenic
Select item 812346	NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)	LCA5 (K391*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis	GPathogenic
Select item 968	NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)	LCA5 (Q279*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic
Select item 662038	NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)	LCA5 (R80*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 5225	NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	CNGB3	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 812336	NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)	INPP5E (R620Q +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 812264	NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)	CEP290 (K1930*)	Single nucleotide variant (nonsense)	Retinal dystrophy +5 more	GPathogenic
Select item 99856	NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)	CEP290 (Q1591*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +3 more	GPathogenic
Select item 217626	NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	CEP290 (R1465*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +9 more	GPathogenic
Select item 217622	NM_025114.4(CEP290):c.1666del (p.Ile556fs)	CEP290 (I556fs)	Deletion (frameshift variant)	not provided +10 more	GPathogenic
Select item 812424	NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)	RPGRIP1 (E539fs +2 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2049	NM_152443.3(RDH12):c.146C>T (p.Thr49Met)	GPHN, RDH12 (T49M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GPathogenic
Select item 805928	NM_152443.3(RDH12):c.164C>T (p.Thr55Met)	GPHN, RDH12 (T55M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GPathogenic/Likely pathogenic
Select item 2055	NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	GPHN, RDH12 (L99I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +3 more	GPathogenic/Likely pathogenic
Select item 2061	NM_152443.3(RDH12):c.377C>T (p.Ala126Val)	GPHN, RDH12 (A126V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +3 more	GConflicting classifications of pathogenicity
Select item 643541	NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)	GPHN, RDH12 (R161W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 536988	NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)	GPHN, RDH12 +1 more (R239L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GPathogenic/Likely pathogenic
Select item 5565	NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)	AIPL1 (W278* +6 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 4 +6 more	GPathogenic
Select item 812218	NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter)	AIPL1 (W33* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 812219	NM_014336.5(AIPL1):c.211G>T (p.Val71Phe)	AIPL1 (V32F +3 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4	GPathogenic
Select item 98602	NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	GUCY2D (P130fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 803314	NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)	GUCY2D (D558N)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +3 more	GUncertain significance
Select item 812326	NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln)	GUCY2D (H664Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GPathogenic
Select item 812327	NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val)	GUCY2D (A710V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GLikely pathogenic
Select item 560463	NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)	GUCY2D (R768Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +4 more	GPathogenic/Likely pathogenic
Select item 812235	NM_004928.3(CFAP410):c.643-2A>G	CFAP410	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis	GPathogenic

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Items: 44