ClinVar for MedGen (Select 374019) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792511.	GRCh38/hg38 1q31.3(chr1:197435257-197441674)x0 GRCh38: Chr1:197435257-197441674	CRB1		Retinitis pigmentosa 12	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25725622.	NM_201253.3(CRB1):c.1459T>C (p.Ser487Pro) GRCh37: Chr1:197390417 GRCh38: Chr1:197421287	CRB1	S375P, S418P, S487P	Retinitis pigmentosa 12	Likely pathogenic	criteria provided, single submitter
Select item 25034813.	NM_201253.3(CRB1):c.2480G>T (p.Gly827Val) GRCh37: Chr1:197396935 GRCh38: Chr1:197427805	CRB1	G715V, G758V, G827V	Retinitis pigmentosa 12	Uncertain significance (Dec 7, 2022)	criteria provided, single submitter
Select item 25024184.	NM_201253.3(CRB1):c.3017C>A (p.Ser1006Tyr) GRCh37: Chr1:197404010 GRCh38: Chr1:197434880	CRB1	S1006Y, S894Y, S982Y	Retinitis pigmentosa 12	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 24443085.	NM_201253.3(CRB1):c.1817G>A (p.Cys606Tyr) GRCh37: Chr1:197390775 GRCh38: Chr1:197421645	CRB1	C494Y, C537Y, C606Y	Retinitis pigmentosa 12	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24284426.	NM_201253.3(CRB1):c.1775T>C (p.Ile592Thr) GRCh37: Chr1:197390733 GRCh38: Chr1:197421603	CRB1	I480T, I523T, I592T	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 24276867.	NC_000001.10:g.(?_197407657)_(197411442_?)del GRCh37: Chr1:197407657-197411442	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 24276858.	NC_000001.10:g.(?_197325941)_(197326163_?)del GRCh37: Chr1:197325941-197326163	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 24276849.	NC_000001.10:g.(?_197237324)_(197447595_?)del GRCh37: Chr1:197237324-197447595	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 242768310.	NC_000001.10:g.(?_197407736)_(197423021_?)del GRCh37: Chr1:197407736-197423021	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Pathogenic (Feb 13, 2022)	criteria provided, single submitter
Select item 242768211.	NC_000001.10:g.(?_197313391)_(197411442_?)dup GRCh37: Chr1:197313391-197411442	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 242768112.	NC_000001.10:g.(?_197297532)_(197326163_?)dup GRCh37: Chr1:197297532-197326163	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Dec 28, 2020)	criteria provided, single submitter
Select item 242768013.	NC_000001.10:g.(?_197297532)_(197447009_?)dup GRCh37: Chr1:197297532-197447009	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 242767914.	NC_000001.10:g.(?_197237543)_(197237632_?)dup GRCh37: Chr1:197237543-197237632	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 242767815.	NC_000001.10:g.(?_197390110)_(197398764_?)del GRCh37: Chr1:197390110-197398764	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Pathogenic (Dec 18, 2021)	criteria provided, single submitter
Select item 242767716.	NC_000001.10:g.(?_197390110)_(197391106_?)del GRCh37: Chr1:197390110-197391106	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 241975417.	NM_201253.3(CRB1):c.1689C>T (p.Ser563=) GRCh37: Chr1:197390647 GRCh38: Chr1:197421517	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 241877618.	NM_201253.3(CRB1):c.1692T>C (p.Asp564=) GRCh37: Chr1:197390650 GRCh38: Chr1:197421520	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 241558019.	NM_201253.3(CRB1):c.2344T>G (p.Leu782Val) GRCh37: Chr1:197396799 GRCh38: Chr1:197427669	CRB1	L670V, L713V, L782V	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 241548020.	NM_201253.3(CRB1):c.30C>T (p.Leu10=) GRCh37: Chr1:197237572 GRCh38: Chr1:197268442	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 241500521.	NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn) GRCh37: Chr1:197404528 GRCh38: Chr1:197435398	CRB1	D1067N, D1155N, D1179N	Leber congenital amaurosis 8, Retinitis pigmentosa 12, Inborn genetic diseases	Uncertain significance (Feb 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 220307922.	NM_201253.3(CRB1):c.1183G>A (p.Glu395Lys) GRCh37: Chr1:197390141 GRCh38: Chr1:197421011	CRB1	E283K, E326K, E395K	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 220291823.	NM_201253.3(CRB1):c.4006-1G>A GRCh37: Chr1:197446793 GRCh38: Chr1:197477663	CRB1		Leber congenital amaurosis 8, Retinitis pigmentosa 12	Pathogenic (Mar 24, 2022)	criteria provided, single submitter
Select item 220291724.	NM_201253.3(CRB1):c.4005+2T>G GRCh37: Chr1:197411424 GRCh38: Chr1:197442294	CRB1		Leber congenital amaurosis 8, Retinitis pigmentosa 12	Pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 220291625.	NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu) GRCh37: Chr1:197411331 GRCh38: Chr1:197442201	CRB1	P1281L, P1193L, P1305L, P769L	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 220291526.	NM_201253.3(CRB1):c.3668G>C (p.Cys1223Ser) GRCh37: Chr1:197404661 GRCh38: Chr1:197435531	CRB1	C1111S, C1199S, C1223S	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 220291327.	NM_201253.3(CRB1):c.3460T>A (p.Cys1154Ser) GRCh37: Chr1:197404453 GRCh38: Chr1:197435323	CRB1	C1154S, C1130S, C1042S	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 220291128.	NM_201253.3(CRB1):c.3152G>A (p.Trp1051Ter) GRCh37: Chr1:197404145 GRCh38: Chr1:197435015	CRB1	W1051, W939, W1027*	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 220291029.	NM_201253.3(CRB1):c.2696G>C (p.Gly899Ala) GRCh37: Chr1:197398598 GRCh38: Chr1:197429468	CRB1	G787A, G875A, G899A	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Pathogenic (May 24, 2022)	criteria provided, single submitter
Select item 220290830.	NM_201253.3(CRB1):c.2086T>C (p.Cys696Arg) GRCh37: Chr1:197391044 GRCh38: Chr1:197421914	CRB1	C584R, C627R, C696R	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 220290731.	NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg) GRCh37: Chr1:197390318 GRCh38: Chr1:197421188	CRB1	G454R, G342R, G385R	not specified, Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Jul 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 220290632.	NM_201253.3(CRB1):c.138del (p.Asp47fs) GRCh37: Chr1:197297617 GRCh38: Chr1:197328487	CRB1	D47fs	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 220210433.	NM_201253.3(CRB1):c.478G>T (p.Gly160Trp) GRCh37: Chr1:197297959 GRCh38: Chr1:197328829	CRB1	G160W, G91W	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 220080534.	NM_201253.3(CRB1):c.89ACA[1] (p.Asn31del) GRCh37: Chr1:197297569-197297571 GRCh38: Chr1:197328439-197328441	CRB1	N31del	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 219979235.	NM_201253.3(CRB1):c.1253A>G (p.Asn418Ser) GRCh37: Chr1:197390211 GRCh38: Chr1:197421081	CRB1	N306S, N418S, N349S	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 219978836.	NM_201253.3(CRB1):c.2158G>A (p.Asp720Asn) GRCh37: Chr1:197396613 GRCh38: Chr1:197427483	CRB1	D608N, D651N, D720N	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 219923337.	NM_201253.3(CRB1):c.2645C>T (p.Thr882Ile) GRCh37: Chr1:197397100 GRCh38: Chr1:197427970	CRB1	T813I, T770I, T882I	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 219832938.	NM_201253.3(CRB1):c.1664T>C (p.Leu555Pro) GRCh37: Chr1:197390622 GRCh38: Chr1:197421492	CRB1	L443P, L486P, L555P	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 219697639.	NM_201253.3(CRB1):c.1331G>A (p.Gly444Asp) GRCh37: Chr1:197390289 GRCh38: Chr1:197421159	CRB1	G444D, G375D, G332D	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 219679740.	NM_201253.3(CRB1):c.2667C>T (p.Asn889=) GRCh37: Chr1:197397122 GRCh38: Chr1:197427992	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 219573841.	NM_201253.3(CRB1):c.2129-20C>T GRCh37: Chr1:197396564 GRCh38: Chr1:197427434	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 219184142.	NM_201253.3(CRB1):c.2054G>C (p.Gly685Ala) GRCh37: Chr1:197391012 GRCh38: Chr1:197421882	CRB1	G616A, G573A, G685A	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 218765743.	NM_201253.3(CRB1):c.2003C>T (p.Ala668Val) GRCh37: Chr1:197390961 GRCh38: Chr1:197421831	CRB1	A556V, A599V, A668V	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 218641644.	NM_201253.3(CRB1):c.1813del (p.Ile605fs) GRCh37: Chr1:197390770 GRCh38: Chr1:197421640	CRB1	I493fs, I536fs, I605fs	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Pathogenic (Sep 18, 2022)	criteria provided, single submitter
Select item 218613845.	NM_201253.3(CRB1):c.3357A>G (p.Lys1119=) GRCh37: Chr1:197404350 GRCh38: Chr1:197435220	CRB1		Leber congenital amaurosis 8, Retinitis pigmentosa 12	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 218394946.	NM_201253.3(CRB1):c.84T>C (p.Asn28=) GRCh37: Chr1:197297565 GRCh38: Chr1:197328435	CRB1		Leber congenital amaurosis 8, Retinitis pigmentosa 12	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 218256547.	NM_201253.3(CRB1):c.2955_2956insGA (p.Asn986fs) GRCh37: Chr1:197403947-197403948 GRCh38: Chr1:197434817-197434818	CRB1	N986fs, N874fs, N962fs	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Pathogenic (Jul 30, 2022)	criteria provided, single submitter
Select item 218125448.	NM_201253.3(CRB1):c.3282A>C (p.Gln1094His) GRCh37: Chr1:197404275 GRCh38: Chr1:197435145	CRB1	Q982H, Q1070H, Q1094H	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 217835649.	NM_201253.3(CRB1):c.1171+9A>G GRCh37: Chr1:197326152 GRCh38: Chr1:197357022	CRB1		Leber congenital amaurosis 8, Retinitis pigmentosa 12	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 217598650.	NM_201253.3(CRB1):c.4005C>T (p.Asp1335=) GRCh37: Chr1:197411422 GRCh38: Chr1:197442292	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 217420051.	NM_201253.3(CRB1):c.2822C>T (p.Pro941Leu) GRCh37: Chr1:197398724 GRCh38: Chr1:197429594	CRB1	P829L, P941L, P917L	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 217345952.	NM_201253.3(CRB1):c.823G>A (p.Gly275Arg) GRCh37: Chr1:197313581 GRCh38: Chr1:197344451	CRB1	G275R, G206R	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 217165953.	NM_201253.3(CRB1):c.1779G>A (p.Ala593=) GRCh37: Chr1:197390737 GRCh38: Chr1:197421607	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 217011754.	NM_201253.3(CRB1):c.2272A>G (p.Ser758Gly) GRCh37: Chr1:197396727 GRCh38: Chr1:197427597	CRB1	S758G, S646G, S689G	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 216814855.	NM_201253.3(CRB1):c.2779T>C (p.Trp927Arg) GRCh37: Chr1:197398681 GRCh38: Chr1:197429551	CRB1	W927R, W815R, W903R	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 216754356.	NM_201253.3(CRB1):c.218C>T (p.Pro73Leu) GRCh37: Chr1:197297699 GRCh38: Chr1:197328569	CRB1	P4L, P73L	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 216717657.	NM_201253.3(CRB1):c.2311A>G (p.Arg771Gly) GRCh37: Chr1:197396766 GRCh38: Chr1:197427636	CRB1	R702G, R659G, R771G	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 216674158.	NM_201253.3(CRB1):c.1145T>C (p.Val382Ala) GRCh37: Chr1:197326117 GRCh38: Chr1:197356987	CRB1	V270A, V313A, V382A	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 216603559.	NM_201253.3(CRB1):c.2676+4A>G GRCh37: Chr1:197397135 GRCh38: Chr1:197428005	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 216370660.	NM_201253.3(CRB1):c.3438C>T (p.Asn1146=) GRCh37: Chr1:197404431 GRCh38: Chr1:197435301	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 216370261.	NM_201253.3(CRB1):c.2677-13C>A GRCh37: Chr1:197398566 GRCh38: Chr1:197429436	CRB1		Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 216241062.	NM_201253.3(CRB1):c.2843-4_2843-2del GRCh37: Chr1:197403831-197403833 GRCh38: Chr1:197434701-197434703	CRB1		Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 216193963.	NM_201253.3(CRB1):c.3173A>G (p.Glu1058Gly) GRCh37: Chr1:197404166 GRCh38: Chr1:197435036	CRB1	E1058G, E946G, E1034G	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 216131164.	NM_201253.3(CRB1):c.3398T>C (p.Val1133Ala) GRCh37: Chr1:197404391 GRCh38: Chr1:197435261	CRB1	V1109A, V1021A, V1133A	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 216104765.	NM_201253.3(CRB1):c.4014T>A (p.Asp1338Glu) GRCh37: Chr1:197446802 GRCh38: Chr1:197477672	CRB1	D1314E, D802E, D1226E, D1338E	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Aug 6, 2021)	criteria provided, single submitter
Select item 216098166.	NM_201253.3(CRB1):c.1971C>T (p.Asn657=) GRCh37: Chr1:197390929 GRCh38: Chr1:197421799	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 216065567.	NM_201253.3(CRB1):c.1020C>T (p.Leu340=) GRCh37: Chr1:197325992 GRCh38: Chr1:197356862	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 216054968.	NM_201253.3(CRB1):c.3750-10A>G GRCh37: Chr1:197407667 GRCh38: Chr1:197438537	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 216002869.	NM_201253.3(CRB1):c.1996G>A (p.Val666Ile) GRCh37: Chr1:197390954 GRCh38: Chr1:197421824	CRB1	V666I, V597I, V554I	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 215968770.	NM_201253.3(CRB1):c.3373T>C (p.Phe1125Leu) GRCh37: Chr1:197404366 GRCh38: Chr1:197435236	CRB1	F1013L, F1101L, F1125L	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 215751171.	NM_201253.3(CRB1):c.3749+9A>G GRCh37: Chr1:197404751 GRCh38: Chr1:197435621	CRB1		Leber congenital amaurosis 8, Retinitis pigmentosa 12	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 215739972.	NM_201253.3(CRB1):c.579T>A (p.Asp193Glu) GRCh37: Chr1:197298060 GRCh38: Chr1:197328930	CRB1	D124E, D193E	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 215671273.	NM_201253.3(CRB1):c.3098C>T (p.Thr1033Ile) GRCh37: Chr1:197404091 GRCh38: Chr1:197434961	CRB1	T1009I, T1033I, T921I	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 215670674.	NM_201253.3(CRB1):c.578A>G (p.Asp193Gly) GRCh37: Chr1:197298059 GRCh38: Chr1:197328929	CRB1	D193G, D124G	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 215495375.	NM_201253.3(CRB1):c.2922C>G (p.Thr974=) GRCh37: Chr1:197403915 GRCh38: Chr1:197434785	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 215451776.	NM_201253.3(CRB1):c.652+12C>A GRCh37: Chr1:197298145 GRCh38: Chr1:197329015	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Nov 22, 2021)	criteria provided, single submitter
Select item 215451277.	NM_201253.3(CRB1):c.3987C>T (p.Gly1329=) GRCh37: Chr1:197411404 GRCh38: Chr1:197442274	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 215414378.	NM_201253.3(CRB1):c.1196A>G (p.Asn399Ser) GRCh37: Chr1:197390154 GRCh38: Chr1:197421024	CRB1	N330S, N399S, N287S	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 215386479.	NM_201253.3(CRB1):c.550G>A (p.Asp184Asn) GRCh37: Chr1:197298031 GRCh38: Chr1:197328901	CRB1	D115N, D184N	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 215286980.	NM_201253.3(CRB1):c.1447G>C (p.Ala483Pro) GRCh37: Chr1:197390405 GRCh38: Chr1:197421275	CRB1	A414P, A483P, A371P	Leber congenital amaurosis 8, Retinitis pigmentosa 12	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 215134981.	NM_201253.3(CRB1):c.4140C>A (p.Ser1380Arg) GRCh37: Chr1:197446928 GRCh38: Chr1:197477798	CRB1	S1268R, S1356R, S1380R, S844R	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 215102682.	NM_201253.3(CRB1):c.40C>T (p.Leu14Phe) GRCh37: Chr1:197237582 GRCh38: Chr1:197268452	CRB1	L14F	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215073283.	NM_201253.3(CRB1):c.2346A>G (p.Leu782=) GRCh37: Chr1:197396801 GRCh38: Chr1:197427671	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 214995484.	NM_201253.3(CRB1):c.849-9A>G GRCh37: Chr1:197316461 GRCh38: Chr1:197347331	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 214976185.	NM_201253.3(CRB1):c.3878+14G>C GRCh37: Chr1:197407819 GRCh38: Chr1:197438689	CRB1		Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 214917586.	NM_201253.3(CRB1):c.2382C>G (p.His794Gln) GRCh37: Chr1:197396837 GRCh38: Chr1:197427707	CRB1	H794Q, H682Q, H725Q	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 214903187.	NM_201253.3(CRB1):c.3258T>C (p.Ala1086=) GRCh37: Chr1:197404251 GRCh38: Chr1:197435121	CRB1		Leber congenital amaurosis 8, Retinitis pigmentosa 12	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 214902988.	NM_201253.3(CRB1):c.96C>G (p.Thr32=) GRCh37: Chr1:197297577 GRCh38: Chr1:197328447	CRB1		Leber congenital amaurosis 8, Retinitis pigmentosa 12	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 214869889.	NM_201253.3(CRB1):c.955A>C (p.Ser319Arg) GRCh37: Chr1:197316576 GRCh38: Chr1:197347446	CRB1	S319R, S250R	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 214820890.	NM_201253.3(CRB1):c.1661T>G (p.Val554Gly) GRCh37: Chr1:197390619 GRCh38: Chr1:197421489	CRB1	V442G, V554G, V485G	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 214463891.	NM_201253.3(CRB1):c.4202C>A (p.Ala1401Glu) GRCh37: Chr1:197446990 GRCh38: Chr1:197477860	CRB1	A865E, A1289E, A1377E, A1401E	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 214442692.	NM_201253.3(CRB1):c.3166G>C (p.Asp1056His) GRCh37: Chr1:197404159 GRCh38: Chr1:197435029	CRB1	D1056H, D944H, D1032H	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Likely pathogenic (May 11, 2022)	criteria provided, single submitter
Select item 214441493.	NM_201253.3(CRB1):c.2334C>G (p.Asn778Lys) GRCh37: Chr1:197396789 GRCh38: Chr1:197427659	CRB1	N666K, N709K, N778K	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 214333394.	NM_201253.3(CRB1):c.1749C>A (p.Ile583=) GRCh37: Chr1:197390707 GRCh38: Chr1:197421577	CRB1		Leber congenital amaurosis 8, Retinitis pigmentosa 12	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 214331095.	NM_201253.3(CRB1):c.328A>G (p.Thr110Ala) GRCh37: Chr1:197297809 GRCh38: Chr1:197328679	CRB1	T41A, T110A	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 214308196.	NM_201253.3(CRB1):c.3538G>A (p.Glu1180Lys) GRCh37: Chr1:197404531 GRCh38: Chr1:197435401	CRB1	E1068K, E1180K, E1156K	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 214288497.	NM_201253.3(CRB1):c.2635G>A (p.Val879Ile) GRCh37: Chr1:197397090 GRCh38: Chr1:197427960	CRB1	V767I, V810I, V879I	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 214207598.	NM_201253.3(CRB1):c.4147C>G (p.Arg1383Gly) GRCh37: Chr1:197446935 GRCh38: Chr1:197477805	CRB1	R847G, R1359G, R1271G, R1383G	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 214075499.	NM_201253.3(CRB1):c.3304A>G (p.Ile1102Val) GRCh37: Chr1:197404297 GRCh38: Chr1:197435167	CRB1	I990V, I1102V, I1078V	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 2140689100.	NM_201253.3(CRB1):c.1903T>C (p.Ser635Pro) GRCh37: Chr1:197390861 GRCh38: Chr1:197421731	CRB1	S566P, S523P, S635P	Retinitis pigmentosa 12, Leber congenital amaurosis 8	Uncertain significance (May 10, 2022)	criteria provided, single submitter

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