C0339527[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438132	NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val)	NMNAT1 (G52V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 438133	NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr)	NMNAT1 (S162Y)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GLikely pathogenic
Select item 438134	NM_022787.4(NMNAT1):c.661dup (p.Ile221fs)	NMNAT1 (I221fs)	Duplication (frameshift variant)	Leber congenital amaurosis	GLikely pathogenic
Select item 438135	NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln)	NMNAT1 (E246Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GLikely pathogenic
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 437985	NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	RPE65 (P25L)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98825	NM_000329.3(RPE65):c.11+5G>A	RPE65	Single nucleotide variant (intron variant)	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 99114	NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	ABCA4 (R681*)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic/Likely pathogenic
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 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 438074	NM_201253.3(CRB1):c.2220dup (p.Met741fs)	CRB1 (M629fs +2 more)	Duplication (frameshift variant +2 more)	Leber congenital amaurosis	GLikely pathogenic
Select item 438076	NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)	CRB1 (N880S +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GConflicting classifications of pathogenicity
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 438077	NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)	CRB1 (E947K +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 more	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 438080	NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)	CRB1 (G1226* +2 more)	Single nucleotide variant (nonsense +2 more)	Pigmented paravenous retinochoroidal atrophy +2 more	GPathogenic
Select item 30779	NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)	IQCB1 (E346* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +1 more	GPathogenic
Select item 1831	NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)	IQCB1 (F142fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 438040	NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter)	IQCB1 (L87*)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis	GLikely pathogenic
Select item 285623	NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)	IQCB1 (R72*)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5 +3 more	GPathogenic
Select item 438152	NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter)	LCA5 (S559*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis	GPathogenic
Select item 438153	NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)	LCA5 (R280*)	Single nucleotide variant (nonsense)	not provided +2 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 374027	NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)	CNGB3	Deletion (frameshift variant)	Achromatopsia 3 +5 more	GPathogenic
Select item 56739	NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	CEP290 (A1832fs)	Deletion (frameshift variant)	Polycystic kidney disease +14 more	GPathogenic
Select item 438223	NM_025114.4(CEP290):c.2390del (p.Lys797fs)	CEP290 (K797fs)	Deletion (frameshift variant)	Leber congenital amaurosis 10 +9 more	GPathogenic
Select item 1335	NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)	CEP290 (W7C)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +3 more	GPathogenic
Select item 438160	NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs)	RPGRIP1 (K372fs)	Deletion (frameshift variant)	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 438255	NM_020366.4(RPGRIP1):c.1152-1749_1763-1241del	RPGRIP1	Deletion (splice acceptor variant +1 more)	Leber congenital amaurosis	GLikely pathogenic
Select item 438161	NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)	RPGRIP1 (E800K +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis +2 more	GPathogenic
Select item 438163	NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)	RPGRIP1 (R981* +4 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 6 +3 more	GPathogenic
Select item 438164	NM_020366.4(RPGRIP1):c.3120G>A (p.Trp1040Ter)	RPGRIP1 (W1040* +5 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis	GLikely pathogenic
Select item 2047	NM_152443.3(RDH12):c.806_810del (p.Ala269fs)	GPHN, RDH12 +1 more (A269fs)	Deletion (frameshift variant)	RDH12-related disorder +4 more	GPathogenic
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 98590	NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)	GUCY2D (E103K)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +3 more	GPathogenic/Likely pathogenic
Select item 437980	NM_000180.4(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034fs)	GUCY2D (G1034fs)	Insertion (frameshift variant)	Leber congenital amaurosis	GLikely pathogenic

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Items: 37