ClinVar for MedGen (Select 137922) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26280621.	NM_015272.5(RPGRIP1L):c.872A>G (p.Gln291Arg) GRCh37: Chr16:53708939 GRCh38: Chr16:53675027	RPGRIP1L	Q291R	Leber congenital amaurosis	Likely pathogenic (Jan 1, 2023)	criteria provided, single submitter
Select item 25775112.	NM_201253.3(CRB1):c.3626_3627del (p.Val1209fs) GRCh37: Chr1:197404616-197404617 GRCh38: Chr1:197435486-197435487	CRB1	V1097fs, V1185fs, V1209fs	Leber congenital amaurosis	Pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 25774973.	NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter) GRCh37: Chr14:88883099 GRCh38: Chr14:88416755	SPATA7	Q63, Q95	Leber congenital amaurosis	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 25774904.	NM_152443.3(RDH12):c.2T>C (p.Met1Thr) GRCh37: Chr14:68189361 GRCh38: Chr14:67722644	GPHN, RDH12	M1T	Leber congenital amaurosis	Uncertain significance (Jul 24, 2023)	criteria provided, single submitter
Select item 25063115.	NM_004744.5(LRAT):c.40_41delinsTT (p.Glu14Leu) GRCh37: Chr4:155665518-155665519 GRCh38: Chr4:154744366-154744367	LRAT	E14L	Leber congenital amaurosis	Likely pathogenic (May 30, 2023)	criteria provided, single submitter
Select item 25010676.	NM_000329.3(RPE65):c.644-2A>G GRCh37: Chr1:68905327 GRCh38: Chr1:68439644	RPE65		Leber congenital amaurosis	Likely pathogenic (Mar 1, 2023)	criteria provided, single submitter
Select item 24457537.	NM_003322.6(TULP1):c.241_249delinsC (p.Ala81fs) GRCh37: Chr6:35479525-35479533 GRCh38: Chr6:35511748-35511756	TULP1	A81fs	Leber congenital amaurosis	Likely pathogenic (Feb 8, 2023)	criteria provided, single submitter
Select item 24457478.	NM_018418.5(SPATA7):c.293_294del (p.Lys98fs) GRCh37: Chr14:88883106-88883107 GRCh38: Chr14:88416762-88416763	SPATA7	K66fs, K98fs	Leber congenital amaurosis	Likely pathogenic (Feb 7, 2023)	criteria provided, single submitter
Select item 24456919.	NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter) GRCh37: Chr14:88859778 GRCh38: Chr14:88393434	SPATA7	Q46*	Leber congenital amaurosis	Likely pathogenic (Feb 27, 2023)	criteria provided, single submitter
Select item 242927510.	NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter) GRCh37: Chr14:21816333 GRCh38: Chr14:21348174	RPGRIP1	L1207, L368, L533, L569, L849*	Leber congenital amaurosis	Likely pathogenic (Jan 16, 2023)	criteria provided, single submitter
Select item 170458511.	NM_018418.5(SPATA7):c.3G>T (p.Met1Ile) GRCh37: Chr14:88852165 GRCh38: Chr14:88385821	LOC130056226, SPATA7	M1I	Leber congenital amaurosis	Likely pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 169635712.	NM_018418.5(SPATA7):c.1293dup (p.Asp432Ter) GRCh37: Chr14:88904258-88904259 GRCh38: Chr14:88437914-88437915	SPATA7	D400, D432	Leber congenital amaurosis	Likely pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 169612313.	NC_000001.10:g.(68896860_68896964)_(68897269_68903869)del GRCh37: Chr1:68896860-68903869	RPE65		Leber congenital amaurosis	Likely pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 168340814.	NM_001122769.3(LCA5):c.550del (p.Ala184fs) GRCh37: Chr6:80223099 GRCh38: Chr6:79513382	LCA5	A184fs	not provided, Leber congenital amaurosis	Pathogenic/Likely pathogenic (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167520115.	NM_003322.6(TULP1):c.790C>T (p.Gln264Ter) GRCh37: Chr6:35477018 GRCh38: Chr6:35509241	TULP1	Q211, Q264	Leber congenital amaurosis, Leber congenital amaurosis 15	Pathogenic (Apr 5, 2022)	criteria provided, single submitter
Select item 141934116.	NM_152443.3(RDH12):c.68+1G>A GRCh37: Chr14:68189428 GRCh38: Chr14:67722711	GPHN, RDH12		Leber congenital amaurosis, Leber congenital amaurosis 13	Pathogenic (Aug 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 130138217.	NM_152443.3(RDH12):c.698T>A (p.Val233Asp) GRCh37: Chr14:68195947 GRCh38: Chr14:67729230	GPHN, RDH12, ZFYVE26	V233D	Leber congenital amaurosis	Pathogenic (Sep 10, 2021)	criteria provided, single submitter
Select item 125420118.	NM_025114.4(CEP290):c.4682G>A (p.Arg1561His) GRCh37: Chr12:88478385 GRCh38: Chr12:88084608	CEP290	R1561H	CEP290-related condition, not provided, not specified, Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis	Uncertain significance (Apr 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 121993219.	NM_201253.3(CRB1):c.863G>T (p.Cys288Phe) GRCh37: Chr1:197316484 GRCh38: Chr1:197347354	CRB1	C219F, C288F	Retinitis pigmentosa 12, Leber congenital amaurosis 8, not provided	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121395920.	NM_001378454.1(ALMS1):c.8725C>T (p.Gln2909Ter) GRCh37: Chr2:73717811 GRCh38: Chr2:73490684	ALMS1	Q2909, Q2910	Leber congenital amaurosis	Pathogenic (May 31, 2021)	criteria provided, single submitter
Select item 121395821.	NM_001378454.1(ALMS1):c.7367_7370del (p.Ile2456fs) GRCh37: Chr2:73681021-73681024 GRCh38: Chr2:73453894-73453897	ALMS1	I2456fs, I2457fs	Leber congenital amaurosis	Pathogenic (May 31, 2021)	criteria provided, single submitter
Select item 121395622.	NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp) GRCh37: Chr2:73799820 GRCh38: Chr2:73572693	ALMS1	R3606W, R3607W	Alstrom syndrome, Leber congenital amaurosis	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 121395523.	NM_001378454.1(ALMS1):c.3345dup (p.Leu1116fs) GRCh37: Chr2:73676998-73676999 GRCh38: Chr2:73449871-73449872	ALMS1	L1116fs, L1117fs	Leber congenital amaurosis	Likely pathogenic (May 31, 2021)	criteria provided, single submitter
Select item 121395424.	NM_001378454.1(ALMS1):c.4244del (p.Gly1415fs) GRCh37: Chr2:73677897 GRCh38: Chr2:73450770	ALMS1	G1415fs, G1416fs	Leber congenital amaurosis	Likely pathogenic (May 31, 2021)	criteria provided, single submitter
Select item 121389125.	NM_152443.3(RDH12):c.667G>T (p.Val223Phe) GRCh37: Chr14:68195916 GRCh38: Chr14:67729199	GPHN, RDH12, ZFYVE26	V223F	Leber congenital amaurosis, Retinal dystrophy	Conflicting interpretations of pathogenicity (Oct 30, 2023)	criteria provided, conflicting interpretations
Select item 121386826.	NM_021728.4(OTX2):c.698del (p.Asn233fs) GRCh37: Chr14:57268649 GRCh38: Chr14:56801931	OTX2	N225fs, N233fs	Leber congenital amaurosis	Pathogenic (Jun 18, 2021)	criteria provided, single submitter
Select item 121385527.	NM_001023570.4(IQCB1):c.1194G>A (p.Trp398Ter) GRCh37: Chr3:121507215 GRCh38: Chr3:121788368	IQCB1	W265, W398	Leber congenital amaurosis	Pathogenic (Jun 18, 2021)	criteria provided, single submitter
Select item 121384928.	NM_014714.4(IFT140):c.2501G>C (p.Arg834Pro) GRCh37: Chr16:1576696 GRCh38: Chr16:1526695	IFT140	R834P	Leber congenital amaurosis	Uncertain significance (Jun 16, 2021)	criteria provided, single submitter
Select item 121384529.	NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro) GRCh37: Chr16:1575262 GRCh38: Chr16:1525261	IFT140, LOC126862260	L945P	Retinitis pigmentosa 80, Leber congenital amaurosis	Uncertain significance (Jun 16, 2021)	criteria provided, single submitter
Select item 118030730.	NM_000329.3(RPE65):c.246-46G>A GRCh37: Chr1:68910612 GRCh38: Chr1:68444929	RPE65		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 117270331.	NM_001378454.1(ALMS1):c.7879_7880insACAG (p.Val2627fs) GRCh37: Chr2:73716964-73716965 GRCh38: Chr2:73489837-73489838	ALMS1	V2627fs, V2628fs	Leber congenital amaurosis	Likely pathogenic (May 19, 2021)	criteria provided, single submitter
Select item 116469032.	NM_000329.3(RPE65):c.1086A>G (p.Gln362=) GRCh37: Chr1:68903912 GRCh38: Chr1:68438229	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Benign (Oct 31, 2022)	criteria provided, single submitter
Select item 115971033.	NM_025114.4(CEP290):c.2244T>C (p.Ser748=) GRCh37: Chr12:88505102 GRCh38: Chr12:88111325	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 115824234.	NM_201253.3(CRB1):c.2316A>G (p.Leu772=) GRCh37: Chr1:197396771 GRCh38: Chr1:197427641	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 115433135.	NM_025114.4(CEP290):c.1905T>C (p.Asn635=) GRCh37: Chr12:88508879 GRCh38: Chr12:88115102	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Likely benign (Dec 23, 2020)	criteria provided, single submitter
Select item 114938536.	NM_025114.4(CEP290):c.288T>C (p.Asn96=) GRCh37: Chr12:88532931 GRCh38: Chr12:88139154	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 114427537.	NM_025114.4(CEP290):c.5577T>C (p.Ser1859=) GRCh37: Chr12:88471483 GRCh38: Chr12:88077706	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 114365338.	NM_201253.3(CRB1):c.2286T>C (p.Tyr762=) GRCh37: Chr1:197396741 GRCh38: Chr1:197427611	CRB1		Leber congenital amaurosis 8, Retinitis pigmentosa 12	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 113305239.	NM_025114.4(CEP290):c.6642A>G (p.Lys2214=) GRCh37: Chr12:88453678 GRCh38: Chr12:88059901	CEP290		Joubert syndrome 5, Senior-Loken syndrome 6, Meckel syndrome, type 4, Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113018440.	NM_025114.4(CEP290):c.5385T>C (p.Asn1795=) GRCh37: Chr12:88471675 GRCh38: Chr12:88077898	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 112985941.	NM_025114.4(CEP290):c.6165T>C (p.Cys2055=) GRCh37: Chr12:88457863 GRCh38: Chr12:88064086	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 112330542.	NM_152443.3(RDH12):c.621T>C (p.Asn207=) GRCh37: Chr14:68193870 GRCh38: Chr14:67727153	GPHN, RDH12		Leber congenital amaurosis 13	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 111613143.	NM_201253.3(CRB1):c.207C>T (p.Asn69=) GRCh37: Chr1:197297688 GRCh38: Chr1:197328558	CRB1		Leber congenital amaurosis 8, Retinitis pigmentosa 12	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 110533244.	NM_201253.3(CRB1):c.1746A>G (p.Leu582=) GRCh37: Chr1:197390704 GRCh38: Chr1:197421574	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 109359845.	NM_201253.3(CRB1):c.763C>T (p.Leu255=) GRCh37: Chr1:197313521 GRCh38: Chr1:197344391	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Sep 3, 2021)	criteria provided, single submitter
Select item 108304846.	NM_025114.4(CEP290):c.1789T>C (p.Leu597=) GRCh37: Chr12:88510845 GRCh38: Chr12:88117068	CEP290		Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 107678947.	NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) GRCh37: Chr1:197390789 GRCh38: Chr1:197421659	CRB1	S499P, S542P, S611P	Retinitis pigmentosa 12, Leber congenital amaurosis 8, Pigmented paravenous retinochoroidal atrophy, Retinitis pigmentosa 12, Leber congenital amaurosis 8	Pathogenic/Likely pathogenic (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107648248.	NM_018418.5(SPATA7):c.265_268del (p.Leu89fs) GRCh37: Chr14:88883080-88883083 GRCh38: Chr14:88416736-88416739	SPATA7	L57fs, L89fs	Leber congenital amaurosis, Leber congenital amaurosis 3	Pathogenic (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107535149.	NM_152443.3(RDH12):c.580dup (p.Tyr194fs) GRCh37: Chr14:68193828-68193829 GRCh38: Chr14:67727111-67727112	GPHN, RDH12	Y194fs	Leber congenital amaurosis, Leber congenital amaurosis 13	Pathogenic/Likely pathogenic (Feb 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 107447250.	NM_152443.3(RDH12):c.226G>C (p.Gly76Arg) GRCh37: Chr14:68191854 GRCh38: Chr14:67725137	GPHN, RDH12	G76R	Leber congenital amaurosis 13, Leber congenital amaurosis	Pathogenic/Likely pathogenic (Aug 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106958251.	NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) GRCh37: Chr12:88481661 GRCh38: Chr12:88087884	CEP290	E1364*	Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis, not provided, Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Meckel syndrome, type 4, Senior-Loken syndrome 6, Joubert syndrome 5	Pathogenic (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106875852.	NM_000329.3(RPE65):c.94G>T (p.Gly32Cys) GRCh37: Chr1:68914307 GRCh38: Chr1:68448624	RPE65	G32C	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 106770353.	NM_201253.3(CRB1):c.71-2A>G GRCh37: Chr1:197297550 GRCh38: Chr1:197328420	CRB1		Leber congenital amaurosis 8, Retinitis pigmentosa 12	Likely pathogenic (Dec 25, 2021)	criteria provided, single submitter
Select item 106725654.	NM_152443.3(RDH12):c.278T>C (p.Leu93Pro) GRCh37: Chr14:68191906 GRCh38: Chr14:67725189	RDH12, GPHN	L93P	Leber congenital amaurosis 13, Leber congenital amaurosis	Pathogenic (Aug 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106653055.	NM_152443.3(RDH12):c.188-1G>A GRCh37: Chr14:68191815 GRCh38: Chr14:67725098	GPHN, RDH12		Leber congenital amaurosis 13	Likely pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 106631256.	NM_000329.3(RPE65):c.354-1G>A GRCh37: Chr1:68910356 GRCh38: Chr1:68444673	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 106604457.	NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs) GRCh37: Chr1:68896785-68896794 GRCh38: Chr1:68431102-68431111	RPE65	E469fs	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 106339958.	NM_201253.3(CRB1):c.1040C>T (p.Pro347Leu) GRCh37: Chr1:197326012 GRCh38: Chr1:197356882	CRB1	P235L, P278L, P347L	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 106142559.	NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala) GRCh37: Chr12:88462397 GRCh38: Chr12:88068620	CEP290	S2013A	Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome, CEP290-related condition	Uncertain significance (Jan 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106132360.	NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile) GRCh37: Chr1:197403902 GRCh38: Chr1:197434772	CRB1	T858I, T946I, T970I	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 106120161.	NM_025114.4(CEP290):c.3181A>G (p.Met1061Val) GRCh37: Chr12:88487675 GRCh38: Chr12:88093898	CEP290	M1061V	Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 105948562.	NM_025114.4(CEP290):c.2440G>T (p.Val814Leu) GRCh37: Chr12:88502886 GRCh38: Chr12:88109109	CEP290	V814L	Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis, Leber congenital amaurosis 10, Meckel syndrome, type 4, Joubert syndrome 5, Bardet-Biedl syndrome 14, Senior-Loken syndrome 6	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105678663.	NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) GRCh37: Chr12:88505067 GRCh38: Chr12:88111290	CEP290	F760S	Inborn genetic diseases, Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome, CEP290-related condition, Meckel syndrome, type 4, Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Senior-Loken syndrome 6, Joubert syndrome 5	Uncertain significance (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 105671664.	NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del) GRCh37: Chr12:88443015-88443017 GRCh38: Chr12:88049238-88049240	CEP290, RLIG1	A2462del	Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 105539165.	NM_201253.3(CRB1):c.745G>A (p.Asp249Asn) GRCh37: Chr1:197313503 GRCh38: Chr1:197344373	CRB1	D180N, D249N	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 105525966.	NM_152443.3(RDH12):c.542G>A (p.Gly181Asp) GRCh37: Chr14:68193791 GRCh38: Chr14:67727074	GPHN, RDH12	G181D	Leber congenital amaurosis 13	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 105522167.	NM_201253.3(CRB1):c.3250G>A (p.Asp1084Asn) GRCh37: Chr1:197404243 GRCh38: Chr1:197435113	CRB1	D1060N, D1084N, D972N	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 105303268.	NM_025114.4(CEP290):c.521A>T (p.Glu174Val) GRCh37: Chr12:88524193 GRCh38: Chr12:88130416	CEP290	E174V	Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis, Leber congenital amaurosis 10, Meckel syndrome, type 4, Joubert syndrome 5, Bardet-Biedl syndrome 14, Senior-Loken syndrome 6	Uncertain significance (Mar 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105228769.	NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln) GRCh37: Chr1:68895517 GRCh38: Chr1:68429834	RPE65	R515Q	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 105228570.	NM_201253.3(CRB1):c.4043T>C (p.Ile1348Thr) GRCh37: Chr1:197446831 GRCh38: Chr1:197477701	CRB1	I1236T, I1324T, I1348T, I812T	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 104745271.	NM_025114.4(CEP290):c.1850T>C (p.Ile617Thr) GRCh37: Chr12:88508934 GRCh38: Chr12:88115157	CEP290	I617T	Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 104685172.	NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg) GRCh37: Chr1:197404336 GRCh38: Chr1:197435206	CRB1	G1003R, G1115R, G1091R	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 104674073.	NM_152443.3(RDH12):c.26CCT[1] (p.Ser10del) GRCh37: Chr14:68189385-68189387 GRCh38: Chr14:67722668-67722670	GPHN, RDH12	S10del	Leber congenital amaurosis 13	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 104660774.	NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn) GRCh37: Chr1:197404196 GRCh38: Chr1:197435066	CRB1	T1044N, T1068N, T956N	Leber congenital amaurosis 8, Retinitis pigmentosa 12, Retinitis pigmentosa 12	Uncertain significance (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104624375.	NM_000329.3(RPE65):c.417G>A (p.Val139=) GRCh37: Chr1:68910292 GRCh38: Chr1:68444609	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 104323776.	NM_025114.4(CEP290):c.5999T>C (p.Ile2000Thr) GRCh37: Chr12:88465083 GRCh38: Chr12:88071306	CEP290	I2000T	Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 104280577.	NM_025114.4(CEP290):c.4366G>A (p.Ala1456Thr) GRCh37: Chr12:88479887 GRCh38: Chr12:88086110	CEP290	A1456T	Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis	Uncertain significance (Oct 22, 2021)	criteria provided, single submitter
Select item 104224578.	NM_000329.3(RPE65):c.58G>A (p.Glu20Lys) GRCh37: Chr1:68914343 GRCh38: Chr1:68448660	RPE65	E20K	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 104218979.	NM_201253.3(CRB1):c.3683C>A (p.Thr1228Asn) GRCh37: Chr1:197404676 GRCh38: Chr1:197435546	CRB1	T1116N, T1228N, T1204N	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 104184480.	NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp) GRCh37: Chr12:88500529 GRCh38: Chr12:88106752	CEP290	N914D	Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 104166081.	NM_025114.4(CEP290):c.4097T>G (p.Val1366Gly) GRCh37: Chr12:88481654 GRCh38: Chr12:88087877	CEP290	V1366G	Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 104141782.	NM_025114.4(CEP290):c.328A>G (p.Thr110Ala) GRCh37: Chr12:88530533 GRCh38: Chr12:88136756	CEP290	T110A	Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 104123183.	NM_025114.4(CEP290):c.2113G>A (p.Val705Ile) GRCh37: Chr12:88505575 GRCh38: Chr12:88111798	CEP290	V705I	Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis, Leber congenital amaurosis 10, Meckel syndrome, type 4, Joubert syndrome 5, Bardet-Biedl syndrome 14, Senior-Loken syndrome 6	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103965184.	NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg) GRCh37: Chr12:88449420 GRCh38: Chr12:88055643	CEP290	Q2298R	Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome, CEP290-related condition	Uncertain significance (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103952685.	NM_201253.3(CRB1):c.3856C>T (p.Arg1286Trp) GRCh37: Chr1:197407783 GRCh38: Chr1:197438653	CRB1	R1262W, R1174W, R750W, R1286W	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 103865386.	NM_000329.3(RPE65):c.524A>G (p.Asn175Ser) GRCh37: Chr1:68906655 GRCh38: Chr1:68440972	RPE65	N175S	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 103843587.	NM_201253.3(CRB1):c.3637G>C (p.Val1213Leu) GRCh37: Chr1:197404630 GRCh38: Chr1:197435500	CRB1	V1213L, V1101L, V1189L	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 103807188.	NM_001122769.3(LCA5):c.521G>A (p.Arg174His) GRCh37: Chr6:80223128 GRCh38: Chr6:79513411	LCA5	R174H	Inborn genetic diseases, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103803389.	NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu) GRCh37: Chr1:197403882 GRCh38: Chr1:197434752	CRB1	F851L, F939L, F963L	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 103778490.	NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) GRCh37: Chr12:88505029 GRCh38: Chr12:88111252	CEP290	S773C	Meckel syndrome, type 4, Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Senior-Loken syndrome 6, Joubert syndrome 5, Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome, CEP290-related condition, Inborn genetic diseases	Uncertain significance (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103755691.	NM_025114.4(CEP290):c.1589A>G (p.Gln530Arg) GRCh37: Chr12:88512454 GRCh38: Chr12:88118677	CEP290	Q530R	Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 103709292.	NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) GRCh37: Chr12:88448165 GRCh38: Chr12:88054388	CEP290	E2329G	Inborn genetic diseases, Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Meckel syndrome, type 4	Uncertain significance (Nov 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103533293.	NM_152443.3(RDH12):c.410C>G (p.Ala137Gly) GRCh37: Chr14:68192834 GRCh38: Chr14:67726117	GPHN, RDH12	A137G	Leber congenital amaurosis 13	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 103522994.	NM_025114.4(CEP290):c.1952T>C (p.Met651Thr) GRCh37: Chr12:88508297 GRCh38: Chr12:88114520	CEP290	M651T	Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 102614995.	NM_201253.3(CRB1):c.1862C>T (p.Thr621Ile) GRCh37: Chr1:197390820 GRCh38: Chr1:197421690	CRB1	T509I, T552I, T621I	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 102604596.	NM_201253.3(CRB1):c.1636A>G (p.Ile546Val) GRCh37: Chr1:197390594 GRCh38: Chr1:197421464	CRB1	I434V, I477V, I546V	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 102526397.	NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn) GRCh37: Chr1:197390991 GRCh38: Chr1:197421861	CRB1	S566N, S609N, S678N	Inborn genetic diseases, Retinitis pigmentosa 12, Leber congenital amaurosis 8	Conflicting interpretations of pathogenicity (Mar 2, 2023)	criteria provided, conflicting interpretations
Select item 102406998.	NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln) GRCh37: Chr12:88456491 GRCh38: Chr12:88062714	CEP290, LOC129390514	R2112Q	Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 102343799.	NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg) GRCh37: Chr1:197446945 GRCh38: Chr1:197477815	CRB1	K1274R, K1362R, K1386R, K850R	Retinitis pigmentosa 12, Leber congenital amaurosis 8, Inborn genetic diseases	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1023063100.	NM_025114.4(CEP290):c.3682C>G (p.Leu1228Val) GRCh37: Chr12:88483156 GRCh38: Chr12:88089379	CEP290	L1228V	Nephronophthisis, Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter

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