Guca1b Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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227 records found for search term Guca1b

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11662250	CV300145	single nucleotide variant	NM_002098.6(GUCA1B):c.*95T>C	Retinitis pigmentosa [RCV000384067]	uncertain significance	6	42184720	42184720	Human	2	name
11587785	CV300150	single nucleotide variant	NM_002098.6(GUCA1B):c.-60A>G	Retinitis pigmentosa [RCV000297862]	benign\|likely benign	6	42194880	42194880	Human	2	name
11599213	CV307325	single nucleotide variant	NM_002098.6(GUCA1B):c.-54A>C	Retinitis pigmentosa [RCV000263693]\|not provided [RCV004705411]	likely benign\|uncertain significance	6	42194874	42194874	Human	2	name
11608427	CV307326	single nucleotide variant	NM_002098.6(GUCA1B):c.-73G>A	Retinitis pigmentosa [RCV000354775]	benign\|likely benign	6	42194893	42194893	Human	2	name
11608522	CV307550	single nucleotide variant	NM_002098.6(GUCA1B):c.-35C>T	Retinitis pigmentosa [RCV000356087]	uncertain significance	6	42194855	42194855	Human	2	name
13519116	CV493377	single nucleotide variant	NM_002098.6(GUCA1B):c.-17T>C	Retinitis pigmentosa 48 [RCV001702527]\|not specified [RCV000597775]	benign	6	42194837	42194837	Human	1	name , alternate_id
11595779	CV300129	single nucleotide variant	NM_002098.6(GUCA1B):c.*868G>A	Retinitis pigmentosa [RCV000374234]	uncertain significance	6	42183947	42183947	Human	2	name
11592055	CV300130	single nucleotide variant	NM_002098.6(GUCA1B):c.*780C>T	Retinitis pigmentosa [RCV000334853]	benign\|likely benign	6	42184035	42184035	Human	2	name
11665337	CV300134	single nucleotide variant	NM_002098.6(GUCA1B):c.*429G>A	Cone dystrophy [RCV000265987]\|Retinitis Pigmentosa, Dominant [RCV000372200]\|Retinitis pigmentosa [RCV001158624]	benign\|likely benign	6	42184386	42184386	Human	4	name
11666786	CV300137	single nucleotide variant	NM_002098.6(GUCA1B):c.*220A>G	Cone dystrophy [RCV000384903]\|Retinitis Pigmentosa, Dominant [RCV000380483]\|Retinitis pigmentosa [RCV001161842]\|not provided [RCV004707157]	benign\|likely benign	6	42184595	42184595	Human	4	name
11597039	CV302864	single nucleotide variant	NM_002098.6(GUCA1B):c.*997C>T	Retinitis pigmentosa [RCV000389170]	benign\|likely benign	6	42183818	42183818	Human	2	name
11666055	CV302865	single nucleotide variant	NM_002098.6(GUCA1B):c.*618G>A	Cone dystrophy [RCV000313048]\|Retinitis Pigmentosa, Dominant [RCV000342908]\|Retinitis pigmentosa [RCV001163256]	benign\|likely benign	6	42184197	42184197	Human	4	name
11665852	CV302867	single nucleotide variant	NM_002098.6(GUCA1B):c.*488C>T	Cone dystrophy [RCV000297802]\|Retinitis Pigmentosa, Dominant [RCV000308172]\|Retinitis pigmentosa [RCV001165354]\|not provided [RCV004705408]	benign\|likely benign	6	42184327	42184327	Human	4	name
11665360	CV302869	single nucleotide variant	NM_002098.6(GUCA1B):c.*477C>T	Cone dystrophy [RCV000267061]\|Retinitis Pigmentosa, Dominant [RCV000277477]\|Retinitis pigmentosa [RCV001165356]	benign\|likely benign	6	42184338	42184338	Human	4	name
11589531	CV302870	single nucleotide variant	NM_002098.6(GUCA1B):c.*473G>A	Retinitis pigmentosa [RCV000311484]	benign\|likely benign	6	42184342	42184342	Human	2	name
11666210	CV302871	single nucleotide variant	NM_002098.6(GUCA1B):c.*457A>G	Cone dystrophy [RCV000324618]\|Retinitis Pigmentosa, Dominant [RCV000368791]\|Retinitis pigmentosa [RCV001158621]\|not provided [RCV004705410]	benign\|likely benign	6	42184358	42184358	Human	4	name
11666553	CV307275	single nucleotide variant	NM_002098.6(GUCA1B):c.*581G>A	Cone dystrophy [RCV000356156]\|Retinitis Pigmentosa, Dominant [RCV000404915]\|Retinitis pigmentosa [RCV001165351]	benign\|likely benign	6	42184234	42184234	Human	4	name
11665293	CV307276	single nucleotide variant	NM_002098.6(GUCA1B):c.*503G>A	Cone dystrophy [RCV000263720]\|Retinitis Pigmentosa, Dominant [RCV000346306]\|Retinitis pigmentosa [RCV001165353]\|not provided [RCV004705407]	benign\|likely benign	6	42184312	42184312	Human	4	name
11663172	CV307285	single nucleotide variant	NM_002098.6(GUCA1B):c.*502C>T	Retinitis pigmentosa [RCV000393296]	uncertain significance	6	42184313	42184313	Human	2	name
11644912	CV307287	single nucleotide variant	NM_002098.6(GUCA1B):c.*451A>G	Retinitis pigmentosa [RCV000262426]	uncertain significance	6	42184364	42184364	Human	2	name
11666143	CV307289	single nucleotide variant	NM_002098.6(GUCA1B):c.*433A>G	Cone dystrophy [RCV000376903]\|Retinitis Pigmentosa, Dominant [RCV000319774]\|Retinitis pigmentosa [RCV001158623]	benign\|likely benign	6	42184382	42184382	Human	4	name
11657423	CV307290	single nucleotide variant	NM_002098.6(GUCA1B):c.*179A>T	Retinitis pigmentosa [RCV000341086]	uncertain significance	6	42184636	42184636	Human	2	name
11600411	CV307489	single nucleotide variant	NM_002098.6(GUCA1B):c.*961A>C	Retinitis pigmentosa [RCV000273785]	benign\|likely benign	6	42183854	42183854	Human	2	name
11666286	CV307508	single nucleotide variant	NM_002098.6(GUCA1B):c.*928A>G	Cone dystrophy [RCV000352765]\|Retinitis Pigmentosa, Dominant [RCV000331252]\|Retinitis pigmentosa [RCV001161728]	benign\|likely benign	6	42183887	42183887	Human	4	name
11601393	CV307510	single nucleotide variant	NM_002098.6(GUCA1B):c.*832G>A	Retinitis pigmentosa [RCV000281560]	likely benign\|uncertain significance	6	42183983	42183983	Human	2	name
11661084	CV307511	single nucleotide variant	NM_002098.6(GUCA1B):c.*767A>T	Retinitis pigmentosa [RCV000373074]	uncertain significance	6	42184048	42184048	Human	2	name
11665654	CV307515	single nucleotide variant	NM_002098.6(GUCA1B):c.*666G>T	Cone dystrophy [RCV000390790]\|Retinitis Pigmentosa, Dominant [RCV000285553]\|Retinitis pigmentosa [RCV001163255]	benign\|likely benign	6	42184149	42184149	Human	4	name
11603765	CV307520	single nucleotide variant	NM_002098.6(GUCA1B):c.*507C>G	Retinitis pigmentosa [RCV000303028]	uncertain significance	6	42184308	42184308	Human	2	name
11666574	CV307521	single nucleotide variant	NM_002098.6(GUCA1B):c.*480G>A	Cone dystrophy [RCV000354809]\|Retinitis Pigmentosa, Dominant [RCV000369891]\|Retinitis pigmentosa [RCV001165355]\|not provided [RCV004705409]	benign\|likely benign	6	42184335	42184335	Human	4	name
11665245	CV307522	single nucleotide variant	NM_002098.6(GUCA1B):c.*295G>A	Cone dystrophy [RCV000328090]\|Retinitis Pigmentosa, Dominant [RCV000261282]\|Retinitis pigmentosa [RCV001161841]	benign\|likely benign	6	42184520	42184520	Human	4	name
11648766	CV307532	single nucleotide variant	NM_002098.6(GUCA1B):c.*205T>C	Retinitis pigmentosa [RCV000283718]	uncertain significance	6	42184610	42184610	Human	2	name
11599582	CV307551	single nucleotide variant	NM_002098.6(GUCA1B):c.-114A>G	Retinitis pigmentosa [RCV000266965]\|not provided [RCV004695938]	uncertain significance	6	42194934	42194934	Human	2	name
28910821	CV896266	single nucleotide variant	NM_002098.6(GUCA1B):c.*940C>G	Retinitis pigmentosa [RCV001161727]	uncertain significance	6	42183875	42183875	Human	2	name
28869805	CV896267	single nucleotide variant	NM_002098.6(GUCA1B):c.*688G>A	Retinitis pigmentosa [RCV001163254]	uncertain significance	6	42184127	42184127	Human	2	name
28869812	CV896268	single nucleotide variant	NM_002098.6(GUCA1B):c.*589T>C	Retinitis pigmentosa [RCV001163257]	uncertain significance	6	42184226	42184226	Human	2	name
28874410	CV896269	single nucleotide variant	NM_002098.6(GUCA1B):c.*559T>C	Retinitis pigmentosa [RCV001165352]	uncertain significance	6	42184256	42184256	Human	2	name
28905793	CV896270	single nucleotide variant	NM_002098.6(GUCA1B):c.*461C>T	Retinitis pigmentosa [RCV001158620]	uncertain significance	6	42184354	42184354	Human	2	name
28905799	CV896271	single nucleotide variant	NM_002098.6(GUCA1B):c.*445G>A	Retinitis pigmentosa [RCV001158622]	uncertain significance	6	42184370	42184370	Human	2	name
28905806	CV896272	single nucleotide variant	NM_002098.6(GUCA1B):c.*428C>T	Retinitis pigmentosa [RCV001158625]	uncertain significance	6	42184387	42184387	Human	2	name
28867371	CV896273	single nucleotide variant	NM_002098.6(GUCA1B):c.*362G>A	Retinitis pigmentosa [RCV001161839]	likely benign	6	42184453	42184453	Human	2	name
28867373	CV896274	single nucleotide variant	NM_002098.6(GUCA1B):c.*358A>G	Retinitis pigmentosa [RCV001161840]	uncertain significance	6	42184457	42184457	Human	2	name
28867375	CV896275	single nucleotide variant	NM_002098.6(GUCA1B):c.*107C>T	Retinitis pigmentosa [RCV001161843]	uncertain significance	6	42184708	42184708	Human	2	name
126736673	CV1027199	single nucleotide variant	NM_002098.6(GUCA1B):c.358-5G>A	not provided [RCV001350254]	uncertain significance	6	42185802	42185802	Human		name
127230618	CV1073490	single nucleotide variant	NM_002098.6(GUCA1B):c.357+8T>A	not provided [RCV001394774]	likely benign	6	42188574	42188574	Human		name
151817129	CV1342481	single nucleotide variant	NM_002098.6(GUCA1B):c.476-1G>A	not provided [RCV001975366]	uncertain significance	6	42184943	42184943	Human		name
151891643	CV1368120	single nucleotide variant	NM_002098.6(GUCA1B):c.207+1G>A	not provided [RCV001888791]	uncertain significance	6	42194613	42194613	Human		name
151819052	CV1452754	single nucleotide variant	NM_002098.6(GUCA1B):c.475+2T>C	not provided [RCV002029707]	uncertain significance	6	42185678	42185678	Human		name
151751714	CV1458987	single nucleotide variant	NM_002098.6(GUCA1B):c.476-9C>G	not provided [RCV002043349]	likely benign\|uncertain significance	6	42184951	42184951	Human		name
152053184	CV1523695	duplication	NM_002098.6(GUCA1B):c.476-9dup	not provided [RCV002127479]	benign	6	42184950	42184951	Human		name
152097249	CV1536871	single nucleotide variant	NM_002098.6(GUCA1B):c.476-4T>A	not provided [RCV002213530]	likely benign	6	42184946	42184946	Human		name
156408659	CV1954466	deletion	NM_002098.6(GUCA1B):c.357+3del	not provided [RCV002586575]	uncertain significance	6	42188579	42188579	Human		name
156299442	CV2159578	single nucleotide variant	NM_002098.6(GUCA1B):c.475+1G>A	not provided [RCV003045480]	uncertain significance	6	42185679	42185679	Human		name
11665758	CV300126	single nucleotide variant	NM_002098.6(GUCA1B):c.*1318G>A	Cone dystrophy [RCV000292127]\|Retinitis Pigmentosa, Dominant [RCV000359438]\|Retinitis pigmentosa [RCV001158513]	benign\|likely benign	6	42183497	42183497	Human	4	name
11584171	CV300128	single nucleotide variant	NM_002098.6(GUCA1B):c.*1263G>A	Retinitis pigmentosa [RCV000271742]	uncertain significance	6	42183552	42183552	Human	2	name
11666620	CV302861	single nucleotide variant	NM_002098.6(GUCA1B):c.*1126A>G	Cone dystrophy [RCV000407601]\|Retinitis Pigmentosa, Dominant [RCV000362466]\|Retinitis pigmentosa [RCV001161725]	benign\|likely benign	6	42183689	42183689	Human	4	name
11591806	CV302863	single nucleotide variant	NM_002098.6(GUCA1B):c.*1018C>T	Retinitis pigmentosa [RCV000332341]	likely benign\|uncertain significance	6	42183797	42183797	Human	2	name
11666263	CV307243	single nucleotide variant	NM_002098.6(GUCA1B):c.*1203T>C	Cone dystrophy [RCV000344714]\|Retinitis Pigmentosa, Dominant [RCV000329186]\|Retinitis pigmentosa [RCV001161724]	benign\|likely benign	6	42183612	42183612	Human	4	name
11665421	CV307263	single nucleotide variant	NM_002098.6(GUCA1B):c.*1088G>C	Cone dystrophy [RCV000314357]\|Retinitis Pigmentosa, Dominant [RCV000270136]\|Retinitis pigmentosa [RCV001161726]	benign\|likely benign	6	42183727	42183727	Human	4	name
11602512	CV307546	single nucleotide variant	NM_002098.6(GUCA1B):c.475+8G>A	Retinitis pigmentosa [RCV000290990]\|not provided [RCV001520391]	benign\|likely benign	6	42185672	42185672	Human	2	name
597884953	CV3834924	single nucleotide variant	NM_002098.6(GUCA1B):c.358-1G>A	not provided [RCV005178648]	uncertain significance	6	42185798	42185798	Human		name
13517742	CV488888	single nucleotide variant	NM_002098.6(GUCA1B):c.476-3C>T	not provided [RCV000596776]	conflicting interpretations of pathogenicity\|uncertain significance	6	42184945	42184945	Human		name
26919057	CV851074	single nucleotide variant	NM_002098.6(GUCA1B):c.476-3C>G	not provided [RCV001044748]	uncertain significance	6	42184945	42184945	Human		name
26903342	CV851076	single nucleotide variant	NM_002098.6(GUCA1B):c.357+6T>C	not provided [RCV001069775]	likely benign\|uncertain significance	6	42188576	42188576	Human		name
152123039	CV1613652	single nucleotide variant	NM_002098.6(GUCA1B):c.208-12C>T	not provided [RCV002081824]	likely benign	6	42188743	42188743	Human		name
152176602	CV1631633	single nucleotide variant	NM_002098.6(GUCA1B):c.475+15G>A	not provided [RCV002164748]	likely benign	6	42185665	42185665	Human		name
152048621	CV1656903	single nucleotide variant	NM_002098.6(GUCA1B):c.208-19G>A	not provided [RCV002189121]	likely benign	6	42188750	42188750	Human		name
156307985	CV1976664	single nucleotide variant	NM_002098.6(GUCA1B):c.207+13G>A	not provided [RCV002578539]	likely benign	6	42194601	42194601	Human		name
156120100	CV2015893	single nucleotide variant	NM_002098.6(GUCA1B):c.476-10C>G	not provided [RCV002696003]	likely benign	6	42184952	42184952	Human		name
156220189	CV2124323	single nucleotide variant	NM_002098.6(GUCA1B):c.475+19G>C	not provided [RCV002958112]	likely benign	6	42185661	42185661	Human		name
155953484	CV2161472	single nucleotide variant	NM_002098.6(GUCA1B):c.475+18G>T	not provided [RCV003032562]	likely benign	6	42185662	42185662	Human		name
597918300	CV3737818	single nucleotide variant	NM_002098.6(GUCA1B):c.475+17T>G	not provided [RCV005074417]	likely benign	6	42185663	42185663	Human		name
597910139	CV3749529	single nucleotide variant	NM_002098.6(GUCA1B):c.358-18C>G	not provided [RCV005073377]	likely benign	6	42185815	42185815	Human		name
597934188	CV3750412	single nucleotide variant	NM_002098.6(GUCA1B):c.207+20A>G	not provided [RCV005076337]	likely benign	6	42194594	42194594	Human		name
11590901	CV300141	deletion	NM_002098.6(GUCA1B):c.219_220del	Retinitis Pigmentosa, Dominant [RCV000323473]	uncertain significance	6	42184595	42184596	Human	1	name
597971334	CV3802528	single nucleotide variant	NM_002098.6(GUCA1B):c.6G>T (p.Gly2=)	not provided [RCV005142126]	likely benign	6	42194815	42194815	Human		name
156319164	CV2155267	single nucleotide variant	NM_002098.6(GUCA1B):c.24G>A (p.Glu8=)	not provided [RCV003011577]	likely benign	6	42194797	42194797	Human		name
127237107	CV1095084	single nucleotide variant	NM_002098.6(GUCA1B):c.63C>G (p.Leu21=)	not provided [RCV001422653]	likely benign	6	42194758	42194758	Human		name
127284405	CV1095085	single nucleotide variant	NM_002098.6(GUCA1B):c.57G>A (p.Ala19=)	not provided [RCV001449413]	likely benign	6	42194764	42194764	Human		name
151818921	CV1390645	single nucleotide variant	NM_002098.6(GUCA1B):c.42C>T (p.Gly14=)	not provided [RCV001954563]	likely benign\|uncertain significance	6	42194779	42194779	Human		name
152169875	CV1529396	single nucleotide variant	NM_002098.6(GUCA1B):c.99C>A (p.Pro33=)	not provided [RCV002161586]	likely benign	6	42194722	42194722	Human		name
152110228	CV1536949	single nucleotide variant	NM_002098.6(GUCA1B):c.30G>A (p.Ala10=)	not provided [RCV002215383]	likely benign	6	42194791	42194791	Human		name
11604829	CV307321	single nucleotide variant	NM_002098.6(GUCA1B):c.87G>A (p.Val29=)	Retinal dystrophy [RCV003888842]\|Retinitis pigmentosa [RCV000313036]\|not provided [RCV000889195]	benign\|likely benign	6	42194734	42194734	Human	4	name
405264539	CV3188052	single nucleotide variant	NM_002098.6(GUCA1B):c.81G>A (p.Lys27=)	Retinal dystrophy [RCV003890998]	benign	6	42194740	42194740	Human	2	name
38485131	CV933328	single nucleotide variant	NM_002098.6(GUCA1B):c.1A>G (p.Met1Val)	not provided [RCV001208341]	uncertain significance	6	42194820	42194820	Human		name
127247141	CV1073491	single nucleotide variant	NM_002098.6(GUCA1B):c.234C>T (p.Tyr78=)	not provided [RCV001399089]	likely benign	6	42188705	42188705	Human		name
127256339	CV1095083	single nucleotide variant	NM_002098.6(GUCA1B):c.168G>A (p.Gln56=)	not provided [RCV001426793]	likely benign	6	42194653	42194653	Human		name
127331042	CV1116631	single nucleotide variant	NM_002098.6(GUCA1B):c.280C>T (p.Leu94=)	not provided [RCV001471296]	likely benign	6	42188659	42188659	Human		name
127293076	CV1116632	single nucleotide variant	NM_002098.6(GUCA1B):c.252C>T (p.Leu84=)	not provided [RCV001451890]	likely benign	6	42188687	42188687	Human		name
151875939	CV1507995	single nucleotide variant	NM_002098.6(GUCA1B):c.144C>T (p.Val48=)	not provided [RCV001961041]	likely benign	6	42194677	42194677	Human		name
152112483	CV1573326	single nucleotide variant	NM_002098.6(GUCA1B):c.285G>A (p.Lys95=)	not provided [RCV002215683]	likely benign	6	42188654	42188654	Human		name
152087521	CV1601257	single nucleotide variant	NM_002098.6(GUCA1B):c.153T>C (p.Asp51=)	not provided [RCV002093701]	likely benign	6	42194668	42194668	Human		name
152164557	CV1605079	single nucleotide variant	NM_002098.6(GUCA1B):c.219C>T (p.Ile73=)	not provided [RCV002204063]	likely benign	6	42188720	42188720	Human		name
10050695	CV192320	single nucleotide variant	NM_002098.6(GUCA1B):c.297G>A (p.Lys99=)	not provided [RCV000175711]	conflicting interpretations of pathogenicity\|uncertain significance	6	42188642	42188642	Human		name
401915753	CV2823018	single nucleotide variant	NM_002098.6(GUCA1B):c.195C>T (p.Phe65=)	not provided [RCV003428848]	likely benign	6	42194626	42194626	Human		name
11611612	CV307298	single nucleotide variant	NM_002098.6(GUCA1B):c.171T>C (p.Tyr57=)	Retinal dystrophy [RCV003888841]\|Retinitis pigmentosa 48 [RCV001702631]\|Retinitis pigmentosa [RCV000397401]\|not provided [RCV001510501]\|not specified [RCV001529912]	benign\|likely benign	6	42194650	42194650	Human	5	name , alternate_id
597887203	CV3741907	single nucleotide variant	NM_002098.6(GUCA1B):c.10G>T (p.Glu4Ter)	not provided [RCV005070627]	uncertain significance	6	42194811	42194811	Human		name
597856217	CV3748016	single nucleotide variant	NM_002098.6(GUCA1B):c.213C>T (p.Asn71=)	not provided [RCV005066838]	likely benign	6	42188726	42188726	Human		name
597963571	CV3819657	single nucleotide variant	NM_002098.6(GUCA1B):c.186C>T (p.Phe62=)	not provided [RCV005164373]	likely benign	6	42194635	42194635	Human		name
28870770	CV896279	single nucleotide variant	NM_002098.6(GUCA1B):c.150C>T (p.Asp50=)	Retinitis pigmentosa [RCV001163655]\|not provided [RCV001405777]	likely benign\|uncertain significance	6	42194671	42194671	Human	2	name
28870774	CV896280	single nucleotide variant	NM_002098.6(GUCA1B):c.111C>A (p.Leu37=)	Retinal dystrophy [RCV003890333]\|Retinitis pigmentosa [RCV001163656]	benign\|uncertain significance	6	42194710	42194710	Human	4	name
28870781	CV896282	single nucleotide variant	NM_002098.6(GUCA1B):c.15T>G (p.Phe5Leu)	Retinal dystrophy [RCV003890334]\|Retinitis pigmentosa [RCV001163658]\|not provided [RCV002032506]	benign\|likely benign\|uncertain significance	6	42194806	42194806	Human	4	name
127241298	CV1095082	single nucleotide variant	NM_002098.6(GUCA1B):c.384C>T (p.Cys128=)	not provided [RCV001434383]	likely benign	6	42185771	42185771	Human		name
151882045	CV1395981	deletion	NM_002098.6(GUCA1B):c.123del (p.Glu41fs)	not provided [RCV002037052]	uncertain significance	6	42194698	42194698	Human		name
151769154	CV1457949	single nucleotide variant	NM_002098.6(GUCA1B):c.29C>T (p.Ala10Val)	Retinal dystrophy [RCV003888923]\|not provided [RCV001949988]\|not specified [RCV004041881]	benign\|uncertain significance	6	42194792	42194792	Human	2	name
151819727	CV1473561	single nucleotide variant	NM_002098.6(GUCA1B):c.80A>T (p.Lys27Met)	not provided [RCV002049669]\|not specified [RCV004631943]	uncertain significance	6	42194741	42194741	Human		name
152130385	CV1519682	single nucleotide variant	NM_002098.6(GUCA1B):c.540G>A (p.Leu180=)	not provided [RCV002155450]	likely benign	6	42184878	42184878	Human		name
152166800	CV1524471	single nucleotide variant	NM_002098.6(GUCA1B):c.369G>A (p.Gln123=)	not provided [RCV002142003]	likely benign	6	42185786	42185786	Human		name
152161987	CV1534909	single nucleotide variant	NM_002098.6(GUCA1B):c.492C>T (p.Asn164=)	Retinal dystrophy [RCV003889085]\|not provided [RCV002141076]	likely benign	6	42184926	42184926	Human	2	name
152158013	CV1542147	single nucleotide variant	NM_002098.6(GUCA1B):c.573T>C (p.Ala191=)	not provided [RCV002202939]	likely benign	6	42184845	42184845	Human		name
152103083	CV1560561	single nucleotide variant	NM_002098.6(GUCA1B):c.519C>T (p.Asp173=)	not provided [RCV002152046]	likely benign	6	42184899	42184899	Human		name
152162586	CV1606342	single nucleotide variant	NM_002098.6(GUCA1B):c.327C>T (p.Ile109=)	not provided [RCV002181186]	likely benign	6	42188612	42188612	Human		name
152065436	CV1652575	single nucleotide variant	NM_002098.6(GUCA1B):c.594C>T (p.Ala198=)	not provided [RCV002090845]	likely benign	6	42184824	42184824	Human		name
156411774	CV1973707	single nucleotide variant	NM_002098.6(GUCA1B):c.417G>A (p.Leu139=)	not provided [RCV002608351]	likely benign	6	42185738	42185738	Human		name
156030943	CV2001224	single nucleotide variant	NM_002098.6(GUCA1B):c.56C>T (p.Ala19Val)	Retinitis pigmentosa 48 [RCV003333806]\|not provided [RCV002658656]	uncertain significance	6	42194765	42194765	Human	1	name , alternate_id
156012675	CV2124710	single nucleotide variant	NM_002098.6(GUCA1B):c.315C>T (p.Gly105=)	not provided [RCV002948359]	likely benign	6	42188624	42188624	Human		name
156199964	CV2293854	single nucleotide variant	NM_002098.6(GUCA1B):c.61C>T (p.Leu21Phe)	not specified [RCV004155115]	uncertain significance	6	42194760	42194760	Human		name
405023385	CV2877500	single nucleotide variant	NM_002098.6(GUCA1B):c.435C>T (p.Val145=)	not provided [RCV003577702]	likely benign	6	42185720	42185720	Human		name
405036892	CV2932881	deletion	NM_002098.6(GUCA1B):c.282del (p.Lys95fs)	not provided [RCV003578797]	uncertain significance	6	42188657	42188657	Human		name
404977627	CV3012101	single nucleotide variant	NM_002098.6(GUCA1B):c.426C>T (p.Pro142=)	not provided [RCV003690661]	likely benign	6	42185729	42185729	Human		name
11604959	CV307549	single nucleotide variant	NM_002098.6(GUCA1B):c.387G>A (p.Arg129=)	Retinitis pigmentosa [RCV000314388]\|not provided [RCV002520416]	likely benign\|uncertain significance	6	42185768	42185768	Human	2	name
405264537	CV3188050	single nucleotide variant	NM_002098.6(GUCA1B):c.561C>T (p.Ser187=)	Retinal dystrophy [RCV003890996]	uncertain significance	6	42184857	42184857	Human	2	name
596939828	CV3408042	single nucleotide variant	NM_002098.6(GUCA1B):c.68A>G (p.Glu23Gly)	Retinal dystrophy [RCV004814502]	uncertain significance	6	42194753	42194753	Human	2	name
597863184	CV3745282	single nucleotide variant	NM_002098.6(GUCA1B):c.38C>T (p.Ala13Val)	not provided [RCV005067638]	uncertain significance	6	42194783	42194783	Human		name
597947379	CV3800684	single nucleotide variant	NM_002098.6(GUCA1B):c.534G>A (p.Lys178=)	not provided [RCV005135084]	likely benign	6	42184884	42184884	Human		name
597915491	CV3814594	single nucleotide variant	NM_002098.6(GUCA1B):c.95G>A (p.Cys32Tyr)	not provided [RCV005154909]	uncertain significance	6	42194726	42194726	Human		name
15106891	CV722036	single nucleotide variant	NM_002098.6(GUCA1B):c.435C>G (p.Val145=)	not provided [RCV000893369]	likely benign	6	42185720	42185720	Human		name
15155347	CV722037	single nucleotide variant	NM_002098.6(GUCA1B):c.399A>G (p.Gln133=)	not provided [RCV000880399]	benign	6	42185756	42185756	Human		name
15175616	CV735663	single nucleotide variant	NM_002098.6(GUCA1B):c.318T>C (p.Asn106=)	not provided [RCV000906257]	likely benign	6	42188621	42188621	Human		name
26897262	CV831952	single nucleotide variant	NM_002098.6(GUCA1B):c.65A>G (p.Gln22Arg)	Retinal dystrophy [RCV003890217]\|not provided [RCV001065461]	benign\|likely benign\|uncertain significance	6	42194756	42194756	Human	2	name
26917182	CV831953	single nucleotide variant	NM_002098.6(GUCA1B):c.55G>A (p.Ala19Thr)	not provided [RCV001041451]	uncertain significance	6	42194766	42194766	Human		name
28870116	CV896276	single nucleotide variant	NM_002098.6(GUCA1B):c.570C>T (p.Leu190=)	Retinitis pigmentosa [RCV001163363]\|not provided [RCV001432086]	likely benign\|uncertain significance	6	42184848	42184848	Human	2	name
28870112	CV896277	single nucleotide variant	NM_002098.6(GUCA1B):c.516G>A (p.Arg172=)	Retinitis pigmentosa [RCV001163364]\|not provided [RCV001426384]	likely benign\|uncertain significance	6	42184902	42184902	Human	2	name
28870776	CV896281	single nucleotide variant	NM_002098.6(GUCA1B):c.95G>C (p.Cys32Ser)	Retinitis pigmentosa [RCV001163657]\|not provided [RCV005056969]	uncertain significance	6	42194726	42194726	Human	2	name
126747893	CV1006656	single nucleotide variant	NM_002098.6(GUCA1B):c.235G>A (p.Val79Met)	not provided [RCV001326240]	uncertain significance	6	42188704	42188704	Human		name
126759516	CV1006657	single nucleotide variant	NM_002098.6(GUCA1B):c.145A>G (p.Thr49Ala)	not provided [RCV001318080]	uncertain significance	6	42194676	42194676	Human		name
126914474	CV1044133	single nucleotide variant	NM_002098.6(GUCA1B):c.167A>G (p.Gln56Arg)	not provided [RCV001370485]	uncertain significance	6	42194654	42194654	Human		name
126908571	CV1044134	single nucleotide variant	NM_002098.6(GUCA1B):c.110T>A (p.Leu37His)	not provided [RCV001368007]\|not specified [RCV004917702]	uncertain significance	6	42194711	42194711	Human		name
8646931	CV106448	single nucleotide variant	NM_002098.6(GUCA1B):c.253G>A (p.Val85Met)	Retinitis pigmentosa 48 [RCV001000638]\|Retinitis pigmentosa [RCV000352718]\|not provided [RCV000086952]	benign\|likely benign\|not provided	6	42188686	42188686	Human	3	name , alternate_id
127323144	CV1116630	indel	NM_002098.6(GUCA1B):c.476-6_476-5delinsTT	not provided [RCV001467816]	likely benign	6	42184947	42184948	Human		name
151727258	CV1409860	single nucleotide variant	NM_002098.6(GUCA1B):c.183G>A (p.Met61Ile)	not provided [RCV001910509]	uncertain significance	6	42194638	42194638	Human		name
151799517	CV1417416	single nucleotide variant	NM_002098.6(GUCA1B):c.131G>A (p.Arg44His)	not provided [RCV002047852]	uncertain significance	6	42194690	42194690	Human		name
151807613	CV1462748	single nucleotide variant	NM_002098.6(GUCA1B):c.179G>A (p.Gly60Asp)	not provided [RCV001991518]	uncertain significance	6	42194642	42194642	Human		name
151813798	CV1492140	single nucleotide variant	NM_002098.6(GUCA1B):c.137T>A (p.Phe46Tyr)	not provided [RCV002029233]	uncertain significance	6	42194684	42194684	Human		name
9589613	CV166177	single nucleotide variant	NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser)	Leber congenital amaurosis [RCV000144479]\|not provided [RCV001360264]	uncertain significance	6	42194718	42194718	Human	1	name
156355544	CV1962371	single nucleotide variant	NM_002098.6(GUCA1B):c.188G>A (p.Arg63Gln)	not provided [RCV002581362]\|not specified [RCV004064560]	uncertain significance	6	42194633	42194633	Human		name
156354149	CV2012014	single nucleotide variant	NM_002098.6(GUCA1B):c.296A>G (p.Lys99Arg)	not provided [RCV002720402]	uncertain significance	6	42188643	42188643	Human		name
155936757	CV2074930	single nucleotide variant	NM_002098.6(GUCA1B):c.295A>G (p.Lys99Glu)	not provided [RCV002861495]	uncertain significance	6	42188644	42188644	Human		name
156137163	CV2129100	single nucleotide variant	NM_002098.6(GUCA1B):c.178G>A (p.Gly60Ser)	not provided [RCV002954092]	uncertain significance	6	42194643	42194643	Human		name
156199715	CV2313012	single nucleotide variant	NM_002098.6(GUCA1B):c.116T>C (p.Met39Thr)	not specified [RCV004159510]	uncertain significance	6	42194705	42194705	Human		name
11641110	CV268068	single nucleotide variant	NM_002098.6(GUCA1B):c.187C>T (p.Arg63Ter)	Retinal dystrophy [RCV004816493]\|not provided [RCV000351187]	uncertain significance	6	42194634	42194634	Human	2	name
11640345	CV274284	single nucleotide variant	NM_002098.6(GUCA1B):c.172G>A (p.Val58Ile)	not provided [RCV000337315]	uncertain significance	6	42194649	42194649	Human		name
404977279	CV3127169	single nucleotide variant	NM_002098.6(GUCA1B):c.230A>C (p.Glu77Ala)	not provided [RCV003825392]	uncertain significance	6	42188709	42188709	Human		name
405719741	CV3255658	single nucleotide variant	NM_002098.6(GUCA1B):c.220G>A (p.Asp74Asn)	not specified [RCV004388615]	uncertain significance	6	42188719	42188719	Human		name
596945511	CV3407510	single nucleotide variant	NM_002098.6(GUCA1B):c.260G>A (p.Arg87Lys)	Retinal dystrophy [RCV004818603]	uncertain significance	6	42188679	42188679	Human	2	name
597928182	CV3749104	single nucleotide variant	NM_002098.6(GUCA1B):c.257T>C (p.Leu86Pro)	not provided [RCV005075560]	uncertain significance	6	42188682	42188682	Human		name
597885804	CV3777312	single nucleotide variant	NM_002098.6(GUCA1B):c.118C>T (p.His40Tyr)	not provided [RCV005124911]	uncertain significance	6	42194703	42194703	Human		name
597848460	CV3792961	single nucleotide variant	NM_002098.6(GUCA1B):c.290C>T (p.Thr97Ile)	not provided [RCV005145097]	uncertain significance	6	42188649	42188649	Human		name
598253409	CV3974919	single nucleotide variant	NM_002098.6(GUCA1B):c.175G>A (p.Glu59Lys)	not specified [RCV005346255]	uncertain significance	6	42194646	42194646	Human		name
26887937	CV831947	single nucleotide variant	NM_002098.6(GUCA1B):c.288G>A (p.Trp96Ter)	not provided [RCV001056947]	uncertain significance	6	42188651	42188651	Human		name
26900111	CV831948	single nucleotide variant	NM_002098.6(GUCA1B):c.245T>C (p.Leu82Pro)	not provided [RCV001067539]	uncertain significance	6	42188694	42188694	Human		name
26890721	CV831949	single nucleotide variant	NM_002098.6(GUCA1B):c.190G>A (p.Ala64Thr)	not provided [RCV001059672]	uncertain significance	6	42194631	42194631	Human		name
26895935	CV831950	single nucleotide variant	NM_002098.6(GUCA1B):c.130C>T (p.Arg44Cys)	not provided [RCV001064340]	likely benign\|uncertain significance	6	42194691	42194691	Human		name
26920329	CV831951	single nucleotide variant	NM_002098.6(GUCA1B):c.112T>C (p.Phe38Leu)	not provided [RCV001047376]\|not specified [RCV004031472]	uncertain significance	6	42194709	42194709	Human		name
28870111	CV896278	single nucleotide variant	NM_002098.6(GUCA1B):c.260G>C (p.Arg87Thr)	Retinitis pigmentosa [RCV001163365]\|not provided [RCV003565472]	uncertain significance	6	42188679	42188679	Human	2	name
38465523	CV954453	single nucleotide variant	NM_002098.6(GUCA1B):c.151G>A (p.Asp51Asn)	not provided [RCV001247569]	uncertain significance	6	42194670	42194670	Human		name
126748854	CV1006651	single nucleotide variant	NM_002098.6(GUCA1B):c.571G>A (p.Ala191Thr)	not provided [RCV001326421]\|not specified [RCV004035205]	uncertain significance	6	42184847	42184847	Human		name
126748071	CV1006653	single nucleotide variant	NM_002098.6(GUCA1B):c.436G>A (p.Val146Met)	not provided [RCV001326271]	uncertain significance	6	42185719	42185719	Human		name
126773348	CV1006654	single nucleotide variant	NM_002098.6(GUCA1B):c.422C>T (p.Thr141Ile)	Retinitis pigmentosa 48 [RCV004576987]\|not provided [RCV001324278]	uncertain significance	6	42185733	42185733	Human	1	name , alternate_id
126739699	CV1006655	single nucleotide variant	NM_002098.6(GUCA1B):c.332G>A (p.Arg111His)	not provided [RCV001325090]	uncertain significance	6	42188607	42188607	Human		name
126774008	CV1027198	single nucleotide variant	NM_002098.6(GUCA1B):c.361A>G (p.Ile121Val)	not provided [RCV001346726]	uncertain significance	6	42185794	42185794	Human		name
126917170	CV1044132	single nucleotide variant	NM_002098.6(GUCA1B):c.584G>A (p.Arg195Gln)	Retinal dystrophy [RCV004815457]\|not provided [RCV001361012]	uncertain significance	6	42184834	42184834	Human	2	name
150550339	CV1300195	single nucleotide variant	NM_002098.6(GUCA1B):c.428A>C (p.Glu143Ala)	not provided [RCV001765665]	uncertain significance	6	42185727	42185727	Human		name
150552202	CV1302283	single nucleotide variant	NM_002098.6(GUCA1B):c.526G>A (p.Val176Met)	not provided [RCV001767547]	uncertain significance	6	42184892	42184892	Human		name
151762227	CV1346752	single nucleotide variant	NM_002098.6(GUCA1B):c.597G>A (p.Met199Ile)	not provided [RCV001970328]	uncertain significance	6	42184821	42184821	Human		name
151737106	CV1364608	single nucleotide variant	NM_002098.6(GUCA1B):c.457G>C (p.Val153Leu)	not provided [RCV002021935]	uncertain significance	6	42185698	42185698	Human		name
151821416	CV1385083	single nucleotide variant	NM_002098.6(GUCA1B):c.331C>T (p.Arg111Cys)	not provided [RCV001975766]\|not specified [RCV004042193]	uncertain significance	6	42188608	42188608	Human		name
151816258	CV1389359	single nucleotide variant	NM_002098.6(GUCA1B):c.578A>G (p.Gln193Arg)	not provided [RCV002012936]	uncertain significance	6	42184840	42184840	Human		name
151711013	CV1394904	single nucleotide variant	NM_002098.6(GUCA1B):c.560G>T (p.Ser187Ile)	not provided [RCV001964295]	uncertain significance	6	42184858	42184858	Human		name
151794737	CV1395086	single nucleotide variant	NM_002098.6(GUCA1B):c.470G>C (p.Gly157Ala)	not provided [RCV001973373]	uncertain significance	6	42185685	42185685	Human		name
151765556	CV1407809	single nucleotide variant	NM_002098.6(GUCA1B):c.389G>A (p.Arg130Gln)	Retinal dystrophy [RCV003888340]\|not provided [RCV002044742]	benign\|uncertain significance	6	42185766	42185766	Human	2	name
151799503	CV1417414	single nucleotide variant	NM_002098.6(GUCA1B):c.449T>G (p.Phe150Cys)	not provided [RCV002047851]	uncertain significance	6	42185706	42185706	Human		name
151760242	CV1448452	single nucleotide variant	NM_002098.6(GUCA1B):c.322T>A (p.Cys108Ser)	not provided [RCV001949051]	uncertain significance	6	42188617	42188617	Human		name
151860207	CV1452232	single nucleotide variant	NM_002098.6(GUCA1B):c.523T>C (p.Trp175Arg)	not provided [RCV002017662]	uncertain significance	6	42184895	42184895	Human		name
151735738	CV1465864	single nucleotide variant	NM_002098.6(GUCA1B):c.310G>A (p.Asp104Asn)	not provided [RCV002041691]	uncertain significance	6	42188629	42188629	Human		name
151889310	CV1479615	single nucleotide variant	NM_002098.6(GUCA1B):c.373A>G (p.Lys125Glu)	not provided [RCV001888151]	uncertain significance	6	42185782	42185782	Human		name
151854497	CV1481662	single nucleotide variant	NM_002098.6(GUCA1B):c.388C>T (p.Arg130Ter)	not provided [RCV002033602]	uncertain significance	6	42185767	42185767	Human		name
151721020	CV1494620	single nucleotide variant	NM_002098.6(GUCA1B):c.596T>C (p.Met199Thr)	not provided [RCV001965978]\|not specified [RCV004044443]	uncertain significance	6	42184822	42184822	Human		name
151753104	CV1508923	single nucleotide variant	NM_002098.6(GUCA1B):c.328G>A (p.Asp110Asn)	not provided [RCV002043493]	uncertain significance	6	42188611	42188611	Human		name
156056363	CV1892088	single nucleotide variant	NM_002098.6(GUCA1B):c.514C>T (p.Arg172Trp)	not provided [RCV003037092]	uncertain significance	6	42184904	42184904	Human		name
156285613	CV1964572	single nucleotide variant	NM_002098.6(GUCA1B):c.512G>A (p.Arg171His)	not provided [RCV002577627]	uncertain significance	6	42184906	42184906	Human		name
155968552	CV1967983	single nucleotide variant	NM_002098.6(GUCA1B):c.347A>G (p.Asn116Ser)	not provided [RCV002617072]	uncertain significance	6	42188592	42188592	Human		name
156094831	CV2012754	single nucleotide variant	NM_002098.6(GUCA1B):c.443G>A (p.Arg148Lys)	not provided [RCV002706446]	uncertain significance	6	42185712	42185712	Human		name
155998624	CV2057292	single nucleotide variant	NM_002098.6(GUCA1B):c.590G>A (p.Ser197Asn)	not provided [RCV002819541]	uncertain significance	6	42184828	42184828	Human		name
156247210	CV2119626	single nucleotide variant	NM_002098.6(GUCA1B):c.385C>T (p.Arg129Trp)	not provided [RCV002967102]\|not specified [RCV004068236]	uncertain significance	6	42185770	42185770	Human		name
8559863	CV22408	single nucleotide variant	NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg)	Retinal dystrophy [RCV003887857]\|Retinitis pigmentosa 48 [RCV000007794]\|not provided [RCV000132648]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	42185686	42185686	Human	3	name , alternate_id
156306541	CV2252748	single nucleotide variant	NM_002098.6(GUCA1B):c.427G>A (p.Glu143Lys)	not specified [RCV004118597]	uncertain significance	6	42185728	42185728	Human		name
401736221	CV2689288	single nucleotide variant	NM_002098.6(GUCA1B):c.414G>C (p.Gln138His)	not specified [RCV004306124]	uncertain significance	6	42185741	42185741	Human		name
405188201	CV2917819	deletion	NM_002098.6(GUCA1B):c.10_12del (p.Glu4del)	not provided [RCV003564633]	uncertain significance	6	42194809	42194811	Human		name
405215093	CV2925323	single nucleotide variant	NM_002098.6(GUCA1B):c.582A>T (p.Arg194Ser)	not provided [RCV003567680]	uncertain significance	6	42184836	42184836	Human		name
11598398	CV300146	single nucleotide variant	NM_002098.6(GUCA1B):c.465G>T (p.Glu155Asp)	Retinitis pigmentosa [RCV000404958]\|not provided [RCV000958576]	benign\|likely benign	6	42185690	42185690	Human	2	name
405077183	CV3008080	single nucleotide variant	NM_002098.6(GUCA1B):c.397C>A (p.Gln133Lys)	not provided [RCV003716831]	uncertain significance	6	42185758	42185758	Human		name
596945669	CV3407548	indel	NM_002098.6(GUCA1B):c.357+6_357+8delinsCAG	Retinal dystrophy [RCV004818641]	uncertain significance	6	42188574	42188576	Human		name
596945733	CV3409095	single nucleotide variant	NM_002098.6(GUCA1B):c.539T>C (p.Leu180Pro)	Retinal dystrophy [RCV004818729]	uncertain significance	6	42184879	42184879	Human	2	name
407464664	CV3443638	single nucleotide variant	NM_002098.6(GUCA1B):c.515G>A (p.Arg172Gln)	not specified [RCV004635138]	uncertain significance	6	42184903	42184903	Human		name
408389877	CV3524806	single nucleotide variant	NM_002098.6(GUCA1B):c.493G>A (p.Glu165Lys)	not provided [RCV004769701]	uncertain significance	6	42184925	42184925	Human		name
408381827	CV3526613	single nucleotide variant	NM_002098.6(GUCA1B):c.305A>T (p.Asp102Val)	not provided [RCV004771926]	uncertain significance	6	42188634	42188634	Human		name
597953476	CV3808860	single nucleotide variant	NM_002098.6(GUCA1B):c.581G>A (p.Arg194Lys)	not provided [RCV005161778]	uncertain significance	6	42184837	42184837	Human		name
597861960	CV3860466	single nucleotide variant	NM_002098.6(GUCA1B):c.332G>T (p.Arg111Leu)	not provided [RCV005195994]	uncertain significance	6	42188607	42188607	Human		name
598235568	CV3974920	single nucleotide variant	NM_002098.6(GUCA1B):c.518A>C (p.Asp173Ala)	not specified [RCV005343073]	uncertain significance	6	42184900	42184900	Human		name
13211513	CV425697	single nucleotide variant	NM_002098.6(GUCA1B):c.593C>G (p.Ala198Gly)	not provided [RCV000497550]	uncertain significance	6	42184825	42184825	Human		name
8626207	CV81351	single nucleotide variant	NM_002098.6(GUCA1B):c.386G>A (p.Arg129Gln)	Retinal dystrophy [RCV004814994]\|not provided [RCV000079974]	uncertain significance\|not provided	6	42185769	42185769	Human	2	name
26917270	CV831946	single nucleotide variant	NM_002098.6(GUCA1B):c.583C>T (p.Arg195Trp)	not provided [RCV001041604]	uncertain significance	6	42184835	42184835	Human		name
8632072	CV87278	single nucleotide variant	NM_002098.6(GUCA1B):c.359G>A (p.Gly120Glu)	not provided [RCV003053086]	uncertain significance\|not provided	6	42185796	42185796	Human		name
38478191	CV945030	single nucleotide variant	NM_002098.6(GUCA1B):c.511C>T (p.Arg171Cys)	not provided [RCV001233816]\|not specified [RCV004917675]	uncertain significance	6	42184907	42184907	Human		name
38494313	CV954452	single nucleotide variant	NM_002098.6(GUCA1B):c.450C>G (p.Phe150Leu)	not provided [RCV001241228]	uncertain significance	6	42185705	42185705	Human		name
126759110	CV991504	single nucleotide variant	NM_002098.6(GUCA1B):c.467A>T (p.Asn156Ile)	not provided [RCV001308922]	uncertain significance	6	42185688	42185688	Human		name
126757158	CV991505	single nucleotide variant	NM_002098.6(GUCA1B):c.312T>G (p.Asp104Glu)	not provided [RCV001298799]	uncertain significance	6	42188627	42188627	Human		name
151849490	CV1368401	deletion	NM_002098.6(GUCA1B):c.111_114del (p.Phe38fs)	not provided [RCV001978732]	uncertain significance	6	42194707	42194710	Human		name
151739665	CV1412813	microsatellite	NM_002098.6(GUCA1B):c.24GGAGGC[3] (p.9EA[3])	not provided [RCV001926343]	uncertain significance	6	42194785	42194786	Human		name
152981481	CV1676813	microsatellite	NM_002098.6(GUCA1B):c.146_147del (p.Thr49fs)	not provided [RCV003093977]\|not specified [RCV002247879]	uncertain significance	6	42194674	42194675	Human		name
155970651	CV2139710	microsatellite	NM_002098.6(GUCA1B):c.155AGG[1] (p.Glu53del)	not provided [RCV002995607]	uncertain significance	6	42194661	42194663	Human		name
126747995	CV1006652	microsatellite	NM_002098.6(GUCA1B):c.455TGG[1] (p.Val153del)	not provided [RCV001326258]	uncertain significance	6	42185695	42185697	Human		name
151721334	CV1494715	inversion	NM_002098.6(GUCA1B):c.171_172inv (p.Val58Ile)	not provided [RCV001966025]	uncertain significance	6	42194649	42194650	Human		name
126766461	CV991506	deletion	NM_002098.6(GUCA1B):c.153_155del (p.Asp51del)	not provided [RCV001301887]	uncertain significance	6	42194666	42194668	Human		name
405178450	CV2913067	inversion	NM_002098.6(GUCA1B):c.386_387inv (p.Arg129Pro)	not provided [RCV003563745]	uncertain significance	6	42185768	42185769	Human		name
26893534	CV831945	duplication	NM_002098.6(GUCA1B):c.582_584dup (p.Arg195dup)	not provided [RCV001062753]	uncertain significance	6	42184833	42184834	Human		name
405144489	CV2955218	indel	NM_002098.6(GUCA1B):c.205_206delinsAA (p.Gly69Lys)	not provided [RCV003673516]	uncertain significance	6	42194615	42194616	Human		name

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