C0339527[trait identifier] AND "DBGen Ocular Genomics"[submitter] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1213912	NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)	RPE65 (G48E)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 99909	NM_201253.3(CRB1):c.430T>G (p.Phe144Val)	CRB1 (F144V +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GConflicting classifications of pathogenicity
Select item 1213955	NM_001378454.1(ALMS1):c.3345dup (p.Leu1116fs)	ALMS1 (L1116fs +1 more)	Duplication (frameshift variant)	Leber congenital amaurosis	GLikely pathogenic
Select item 1213954	NM_001378454.1(ALMS1):c.4244del (p.Gly1415fs)	ALMS1 (G1415fs +1 more)	Deletion (frameshift variant)	Leber congenital amaurosis	GLikely pathogenic
Select item 1213958	NM_001378454.1(ALMS1):c.7367_7370del (p.Ile2456fs)	ALMS1 (I2456fs +1 more)	Deletion (frameshift variant)	Leber congenital amaurosis	GPathogenic
Select item 1172703	NM_001378454.1(ALMS1):c.7879_7880insACAG (p.Val2627fs)	ALMS1 (V2627fs +1 more)	Insertion (frameshift variant)	Leber congenital amaurosis	GLikely pathogenic
Select item 1213959	NM_001378454.1(ALMS1):c.8725C>T (p.Gln2909Ter)	ALMS1 (Q2909* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis	GPathogenic
Select item 1213956	NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp)	ALMS1 (R3606W +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GPathogenic
Select item 1213855	NM_001023570.4(IQCB1):c.1194G>A (p.Trp398Ter)	IQCB1 (W265* +1 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis	GPathogenic
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 802053	NM_006017.3(PROM1):c.1984-1G>T	PROM1	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic
Select item 197597	NM_025114.4(CEP290):c.6604del (p.Ile2202fs)	CEP290 (I2202fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14 +10 more	GPathogenic/Likely pathogenic
Select item 281249	NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)	CEP290 (I2000V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +10 more	GUncertain significance
Select item 953502	NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)	CEP290 (E1554del)	Microsatellite (inframe_deletion)	Familial aplasia of the vermis +4 more	GPathogenic/Likely pathogenic
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 310606	NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)	CEP290 (R1264C)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +11 more	GConflicting classifications of pathogenicity
Select item 281250	NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	CEP290 (I364M)	Single nucleotide variant (missense variant)	not provided +14 more	GConflicting classifications of pathogenicity
Select item 99809	NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)	RPGRIP1 (E370fs)	Deletion (frameshift variant)	Cone-rod dystrophy 13 +2 more	GPathogenic
Select item 1213868	NM_021728.4(OTX2):c.698del (p.Asn233fs)	OTX2 (N225fs +1 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis	GPathogenic
Select item 1213891	NM_152443.3(RDH12):c.667G>T (p.Val223Phe)	GPHN, RDH12 +1 more (V223F)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
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 801398	NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer)	SPATA7	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1213845	NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro)	IFT140, LOC126862260 (L945P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GUncertain significance
Select item 1213849	NM_014714.4(IFT140):c.2501G>C (p.Arg834Pro)	IFT140 (R834P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GUncertain significance
Select item 2628062	NM_015272.5(RPGRIP1L):c.872A>G (p.Gln291Arg)	RPGRIP1L (Q291R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GLikely pathogenic

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Items: 25