ClinVar for MedGen (Select 137922) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2856969	NM_152443.3(RDH12):c.189del (p.Ala64fs)	GPHN, RDH12 (A64fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13 +1 more	GPathogenic
Select item 2691560	NM_020366.4(RPGRIP1):c.1216del (p.Leu406fs)	RPGRIP1 (L406fs +1 more)	Deletion (frameshift variant)	Leber congenital amaurosis	GPathogenic
Select item 2628062	NM_015272.5(RPGRIP1L):c.872A>G (p.Gln291Arg)	RPGRIP1L (Q291R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GLikely pathogenic
Select item 2577511	NM_201253.3(CRB1):c.3626_3627del (p.Val1209fs)	CRB1 (V1097fs +2 more)	Microsatellite (frameshift variant +2 more)	Leber congenital amaurosis	GPathogenic
Select item 2577497	NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)	SPATA7 (Q63* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis	GLikely pathogenic
Select item 2577490	NM_152443.3(RDH12):c.2T>C (p.Met1Thr)	GPHN, RDH12 (M1T)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis	GUncertain significance
Select item 2506311	NM_004744.5(LRAT):c.40_41delinsTT (p.Glu14Leu)	LRAT (E14L)	Indel (missense variant)	Leber congenital amaurosis	GLikely pathogenic
Select item 2501067	NM_000329.3(RPE65):c.644-2A>G	RPE65	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 20 +2 more	GLikely pathogenic
Select item 2445753	NM_003322.6(TULP1):c.241_249delinsC (p.Ala81fs)	TULP1 (A81fs)	Indel (frameshift variant +1 more)	Leber congenital amaurosis	GLikely pathogenic
Select item 2445747	NM_018418.5(SPATA7):c.293_294del (p.Lys98fs)	SPATA7 (K66fs +1 more)	Deletion (frameshift variant)	Leber congenital amaurosis	GLikely pathogenic
Select item 2445691	NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)	SPATA7 (Q46*)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis	GLikely pathogenic
Select item 2429275	NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)	RPGRIP1 (L1207* +4 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis	GLikely pathogenic
Select item 1704585	NM_018418.5(SPATA7):c.3G>T (p.Met1Ile)	LOC130056226, SPATA7 (M1I)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis	GLikely pathogenic
Select item 1696357	NM_018418.5(SPATA7):c.1293dup (p.Asp432Ter)	SPATA7 (D400* +1 more)	Duplication (nonsense)	Leber congenital amaurosis	GLikely pathogenic
Select item 1696123	NC_000001.10:g.(68896860_68896964)_(68897269_68903869)del	RPE65	Deletion	Leber congenital amaurosis	GLikely pathogenic
Select item 1683408	NM_001122769.3(LCA5):c.550del (p.Ala184fs)	LCA5 (A184fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1679125	NM_000329.3(RPE65):c.938A>G (p.His313Arg)	RPE65 (H313R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +2 more	GPathogenic/Likely pathogenic
Select item 1675201	NM_003322.6(TULP1):c.790C>T (p.Gln264Ter)	TULP1 (Q211* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis +1 more	GPathogenic
Select item 1458632	NM_152443.3(RDH12):c.784del (p.Ala262fs)	GPHN, RDH12 +1 more (A262fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13 +1 more	GPathogenic
Select item 1419341	NM_152443.3(RDH12):c.68+1G>A	GPHN, RDH12	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis +1 more	GPathogenic
Select item 1301382	NM_152443.3(RDH12):c.698T>A (p.Val233Asp)	ZFYVE26, RDH12 +1 more (V233D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GPathogenic
Select item 1254201	NM_025114.4(CEP290):c.4682G>A (p.Arg1561His)	CEP290 (R1561H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1219932	NM_201253.3(CRB1):c.863G>T (p.Cys288Phe)	CRB1 (C219F +1 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
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 1213958	NM_001378454.1(ALMS1):c.7367_7370del (p.Ile2456fs)	ALMS1 (I2456fs +1 more)	Deletion (frameshift variant)	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)	Leber congenital amaurosis +1 more	GPathogenic
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 1213891	NM_152443.3(RDH12):c.667G>T (p.Val223Phe)	GPHN, RDH12 +1 more (V223F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis +1 more	GConflicting classifications of pathogenicity
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 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 1213849	NM_014714.4(IFT140):c.2501G>C (p.Arg834Pro)	IFT140 (R834P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GUncertain significance
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 1180307	NM_000329.3(RPE65):c.246-46G>A	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
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 1164690	NM_000329.3(RPE65):c.1086A>G (p.Gln362=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GBenign
Select item 1159710	NM_025114.4(CEP290):c.2244T>C (p.Ser748=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1158242	NM_201253.3(CRB1):c.2316A>G (p.Leu772=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1154331	NM_025114.4(CEP290):c.1905T>C (p.Asn635=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1149385	NM_025114.4(CEP290):c.288T>C (p.Asn96=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1144275	NM_025114.4(CEP290):c.5577T>C (p.Ser1859=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1143653	NM_201253.3(CRB1):c.2286T>C (p.Tyr762=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1133052	NM_025114.4(CEP290):c.6642A>G (p.Lys2214=)	CEP290	Single nucleotide variant (synonymous variant)	Nephronophthisis +7 more	GLikely benign
Select item 1130184	NM_025114.4(CEP290):c.5385T>C (p.Asn1795=)	CEP290	Single nucleotide variant (synonymous variant)	Nephronophthisis +2 more	GLikely benign
Select item 1129859	NM_025114.4(CEP290):c.6165T>C (p.Cys2055=)	CEP290	Single nucleotide variant (synonymous variant)	Nephronophthisis +2 more	GLikely benign
Select item 1123305	NM_152443.3(RDH12):c.621T>C (p.Asn207=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1116131	NM_201253.3(CRB1):c.207C>T (p.Asn69=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 1105332	NM_201253.3(CRB1):c.1746A>G (p.Leu582=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1093598	NM_201253.3(CRB1):c.763C>T (p.Leu255=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1083048	NM_025114.4(CEP290):c.1789T>C (p.Leu597=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1076789	NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)	CRB1 (S499P +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GPathogenic/Likely pathogenic
Select item 1076482	NM_018418.5(SPATA7):c.265_268del (p.Leu89fs)	SPATA7 (L57fs +1 more)	Deletion (frameshift variant)	Leber congenital amaurosis +1 more	GPathogenic
Select item 1075351	NM_152443.3(RDH12):c.580dup (p.Tyr194fs)	GPHN, RDH12 (Y194fs)	Duplication (frameshift variant)	Leber congenital amaurosis +1 more	GPathogenic/Likely pathogenic
Select item 1074472	NM_152443.3(RDH12):c.226G>C (p.Gly76Arg)	GPHN, RDH12 (G76R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis +1 more	GPathogenic/Likely pathogenic
Select item 1069582	NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)	CEP290 (E1364*)	Single nucleotide variant (nonsense)	Nephronophthisis +8 more	GPathogenic
Select item 1068758	NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)	RPE65 (G32C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 1067703	NM_201253.3(CRB1):c.71-2A>G	CRB1	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 8 +1 more	GLikely pathogenic
Select item 1067256	NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)	GPHN, RDH12 (L93P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic
Select item 1066530	NM_152443.3(RDH12):c.188-1G>A	GPHN, RDH12	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 1066312	NM_000329.3(RPE65):c.354-1G>A	RPE65	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 20 +1 more	GLikely pathogenic
Select item 1066044	NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs)	RPE65 (E469fs)	Deletion (frameshift variant)	Leber congenital amaurosis 2 +1 more	GLikely pathogenic
Select item 1063399	NM_201253.3(CRB1):c.1040C>T (p.Pro347Leu)	CRB1 (P235L +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1061425	NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala)	CEP290 (S2013A)	Single nucleotide variant (missense variant)	CEP290-related condition +3 more	GUncertain significance
Select item 1061323	NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile)	CRB1 (T858I +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1061201	NM_025114.4(CEP290):c.3181A>G (p.Met1061Val)	CEP290 (M1061V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1059485	NM_025114.4(CEP290):c.2440G>T (p.Val814Leu)	CEP290 (V814L)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 1056786	NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser)	CEP290 (F760S)	Single nucleotide variant (missense variant)	CEP290-related condition +9 more	GUncertain significance
Select item 1056716	NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del)	CEP290, RLIG1 (A2462del)	Microsatellite (inframe_deletion +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1055391	NM_201253.3(CRB1):c.745G>A (p.Asp249Asn)	CRB1 (D180N +1 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1055259	NM_152443.3(RDH12):c.542G>A (p.Gly181Asp)	GPHN, RDH12 (G181D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1055221	NM_201253.3(CRB1):c.3250G>A (p.Asp1084Asn)	CRB1 (D1060N +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 1053032	NM_025114.4(CEP290):c.521A>T (p.Glu174Val)	CEP290 (E174V)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +7 more	GUncertain significance
Select item 1052287	NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln)	RPE65 (R515Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 1052285	NM_201253.3(CRB1):c.4043T>C (p.Ile1348Thr)	CRB1 (I1236T +3 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 1047452	NM_025114.4(CEP290):c.1850T>C (p.Ile617Thr)	CEP290 (I617T)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1046851	NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg)	CRB1 (G1003R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1046740	NM_152443.3(RDH12):c.26CCT[1] (p.Ser10del)	GPHN, RDH12 (S10del)	Microsatellite (inframe_deletion)	Leber congenital amaurosis 13	GUncertain significance
Select item 1046607	NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn)	CRB1 (T1044N +2 more)	Single nucleotide variant (missense variant +2 more)	Pigmented paravenous retinochoroidal atrophy +2 more	GUncertain significance
Select item 1046243	NM_000329.3(RPE65):c.417G>A (p.Val139=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 1043237	NM_025114.4(CEP290):c.5999T>C (p.Ile2000Thr)	CEP290 (I2000T)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1042805	NM_025114.4(CEP290):c.4366G>A (p.Ala1456Thr)	CEP290 (A1456T)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1042245	NM_000329.3(RPE65):c.58G>A (p.Glu20Lys)	RPE65 (E20K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 1042189	NM_201253.3(CRB1):c.3683C>A (p.Thr1228Asn)	CRB1 (T1116N +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 1041844	NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp)	CEP290 (N914D)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1041660	NM_025114.4(CEP290):c.4097T>G (p.Val1366Gly)	CEP290 (V1366G)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1041417	NM_025114.4(CEP290):c.328A>G (p.Thr110Ala)	CEP290 (T110A)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 1041231	NM_025114.4(CEP290):c.2113G>A (p.Val705Ile)	CEP290 (V705I)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 1039651	NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg)	CEP290 (Q2298R)	Single nucleotide variant (missense variant)	CEP290-related condition +3 more	GUncertain significance
Select item 1039526	NM_201253.3(CRB1):c.3856C>T (p.Arg1286Trp)	CRB1 (R1262W +3 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1038653	NM_000329.3(RPE65):c.524A>G (p.Asn175Ser)	RPE65 (N175S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 1038435	NM_201253.3(CRB1):c.3637G>C (p.Val1213Leu)	CRB1 (V1213L +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1038071	NM_001122769.3(LCA5):c.521G>A (p.Arg174His)	LCA5 (R174H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1038033	NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu)	CRB1 (F851L +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1037784	NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys)	CEP290 (S773C)	Single nucleotide variant (missense variant)	Nephronophthisis +9 more	GUncertain significance
Select item 1037556	NM_025114.4(CEP290):c.1589A>G (p.Gln530Arg)	CEP290 (Q530R)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1037092	NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly)	CEP290 (E2329G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GUncertain significance
Select item 1035332	NM_152443.3(RDH12):c.410C>G (p.Ala137Gly)	GPHN, RDH12 (A137G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1035229	NM_025114.4(CEP290):c.1952T>C (p.Met651Thr)	CEP290 (M651T)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1026149	NM_201253.3(CRB1):c.1862C>T (p.Thr621Ile)	CRB1 (T509I +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 1026045	NM_201253.3(CRB1):c.1636A>G (p.Ile546Val)	CRB1 (I434V +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance

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