Nmnat1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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205 records found for search term Nmnat1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8569942	CV45798	variation	NMNAT1, TRP169TER	Leber congenital amaurosis 9 [RCV000030768]	pathogenic				Human		name
26909495	CV856127	single nucleotide variant	NM_022787.4(NMNAT1):c.-71G>C	Retinal dystrophy [RCV001073535]	uncertain significance	1	9943501	9943501	Human	2	name
39457642	CV966364	single nucleotide variant	NM_022787.4(NMNAT1):c.-72G>A	Leber congenital amaurosis 9 [RCV001256651]	likely pathogenic	1	9943500	9943500	Human	1	name
39457633	CV966365	single nucleotide variant	NM_022787.4(NMNAT1):c.-69C>T	Leber congenital amaurosis 9 [RCV001256639]	pathogenic	1	9943503	9943503	Human	1	name
39457644	CV966366	single nucleotide variant	NM_022787.4(NMNAT1):c.-57G>T	Leber congenital amaurosis 9 [RCV001256653]	likely pathogenic	1	9943515	9943515	Human	1	name
126914881	CV1038904	single nucleotide variant	NM_022787.4(NMNAT1):c.439+5G>T	Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [RCV001358654]	pathogenic	1	9981175	9981175	Human	1	name
127263085	CV1067694	single nucleotide variant	NM_022787.4(NMNAT1):c.300-5T>C	Leber congenital amaurosis 9 [RCV001402894]	likely benign	1	9981026	9981026	Human	1	name
127298548	CV1110952	single nucleotide variant	NM_022787.4(NMNAT1):c.115+8C>G	Leber congenital amaurosis 9 [RCV001453345]	likely benign	1	9972196	9972196	Human	1	name
151722256	CV1406624	single nucleotide variant	NM_022787.4(NMNAT1):c.115+1G>A	Leber congenital amaurosis 9 [RCV002003843]	likely pathogenic	1	9972189	9972189	Human	1	name
151782776	CV1422333	single nucleotide variant	NM_022787.4(NMNAT1):c.116-2A>G	Leber congenital amaurosis 9 [RCV001972231]	pathogenic	1	9975590	9975590	Human	1	name
152133173	CV1621589	single nucleotide variant	NM_022787.4(NMNAT1):c.300-4A>G	Leber congenital amaurosis 9 [RCV002218355]	likely benign	1	9981027	9981027	Human	1	name
152133244	CV1666247	single nucleotide variant	NM_022787.4(NMNAT1):c.439+7A>G	Leber congenital amaurosis 9 [RCV002099769]	likely benign	1	9981177	9981177	Human	1	name
156179865	CV1924421	single nucleotide variant	NM_022787.4(NMNAT1):c.115+1G>C	Leber congenital amaurosis 9 [RCV002625004]	likely pathogenic	1	9972189	9972189	Human	1	name
329351184	CV2476369	single nucleotide variant	NM_022787.4(NMNAT1):c.-57+2T>C	not provided [RCV003222601]	uncertain significance	1	9943517	9943517	Human		name
597871085	CV3749999	single nucleotide variant	NM_022787.4(NMNAT1):c.115+9A>G	Leber congenital amaurosis 9 [RCV005068680]	likely benign	1	9972197	9972197	Human	1	name
597879326	CV3856946	single nucleotide variant	NM_022787.4(NMNAT1):c.440-1G>A	Leber congenital amaurosis 9 [RCV005198746]	uncertain significance	1	9982300	9982300	Human	1	name
13525941	CV512890	single nucleotide variant	NM_022787.4(NMNAT1):c.115+3A>G	Leber congenital amaurosis 9 [RCV000625321]\|NMNAT1-related disorder [RCV003905671]\|not provided [RCV003424194]\|not specified [RCV001700421]	benign\|likely benign	1	9972191	9972191	Human	1	name , trait , alternate_id
39457643	CV966386	single nucleotide variant	NM_022787.4(NMNAT1):c.-57+4A>G	Leber congenital amaurosis 9 [RCV001256652]	likely pathogenic	1	9943519	9943519	Human	1	name
39457650	CV966388	single nucleotide variant	NM_022787.4(NMNAT1):c.439+1G>C	Leber congenital amaurosis 9 [RCV001256663]	pathogenic	1	9981171	9981171	Human	1	name
127307320	CV1153768	single nucleotide variant	NM_022787.4(NMNAT1):c.440-16G>T	Leber congenital amaurosis 9 [RCV001517051]	benign	1	9982285	9982285	Human	1	name
152037991	CV1530358	single nucleotide variant	NM_022787.4(NMNAT1):c.299+12G>T	Leber congenital amaurosis 9 [RCV002087528]	likely benign	1	9975787	9975787	Human	1	name
152074934	CV1544713	single nucleotide variant	NM_022787.4(NMNAT1):c.299+13T>G	Leber congenital amaurosis 9 [RCV002169782]	likely benign	1	9975788	9975788	Human	1	name
152157570	CV1586225	single nucleotide variant	NM_022787.4(NMNAT1):c.116-11T>C	Leber congenital amaurosis 9 [RCV002140361]	likely benign	1	9975581	9975581	Human	1	name
152133855	CV1598584	single nucleotide variant	NM_022787.4(NMNAT1):c.115+15C>T	Leber congenital amaurosis 9 [RCV002177161]	likely benign	1	9972203	9972203	Human	1	name
152084314	CV1617019	single nucleotide variant	NM_022787.4(NMNAT1):c.300-10T>G	Leber congenital amaurosis 9 [RCV002076783]	likely benign	1	9981021	9981021	Human	1	name
156043064	CV1887266	single nucleotide variant	NM_022787.4(NMNAT1):c.115+16A>G	Leber congenital amaurosis 9 [RCV003078594]	likely benign	1	9972204	9972204	Human	1	name
156033943	CV2002542	single nucleotide variant	NM_022787.4(NMNAT1):c.115+14C>T	Leber congenital amaurosis 9 [RCV002658778]	likely benign	1	9972202	9972202	Human	1	name
405180476	CV2956238	single nucleotide variant	NM_022787.4(NMNAT1):c.300-12G>C	Leber congenital amaurosis 9 [RCV003639581]	likely benign	1	9981019	9981019	Human	1	name
405181551	CV2975747	single nucleotide variant	NM_022787.4(NMNAT1):c.299+19A>G	Leber congenital amaurosis 9 [RCV003639709]	likely benign	1	9975794	9975794	Human	1	name
405141968	CV3125943	single nucleotide variant	NM_022787.4(NMNAT1):c.439+12T>C	Leber congenital amaurosis 9 [RCV003816859]	likely benign	1	9981182	9981182	Human	1	name
408367385	CV3511695	single nucleotide variant	NM_022787.4(NMNAT1):c.-57+19G>T	NMNAT1-related disorder [RCV004758419]	likely benign	1	9943534	9943534	Human		name , trait , alternate_id
597909123	CV3781964	deletion	NM_022787.4(NMNAT1):c.300-13del	Leber congenital amaurosis 9 [RCV005128456]	benign	1	9981015	9981015	Human	1	name
39457639	CV966387	single nucleotide variant	NM_022787.4(NMNAT1):c.-57+10C>T	Leber congenital amaurosis 9 [RCV001256648]	likely pathogenic	1	9943525	9943525	Human	1	name
405866970	CV2842484	single nucleotide variant	NM_022787.4(NMNAT1):c.439+101A>G	EBV-positive nodal T- and NK-cell lymphoma [RCV004557841]	likely benign	1	9981271	9981271	Human		name
126914880	CV1038903	duplication	NM_022787.4(NMNAT1):c.299+526_*968dup	Leber congenital amaurosis 9 [RCV001358653]\|Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [RCV001358652]	pathogenic	1	9976248	9976249	Human	2	name
127329026	CV1131828	single nucleotide variant	NM_022787.4(NMNAT1):c.12C>T (p.Ser4=)	Leber congenital amaurosis 9 [RCV001487168]	likely benign	1	9972085	9972085	Human	1	name
127280157	CV1089417	single nucleotide variant	NM_022787.4(NMNAT1):c.66C>T (p.Asn22=)	Leber congenital amaurosis 9 [RCV001446289]	likely benign	1	9972139	9972139	Human	1	name
152168632	CV1548100	single nucleotide variant	NM_022787.4(NMNAT1):c.88C>T (p.Leu30=)	Leber congenital amaurosis 9 [RCV002161185]	likely benign	1	9972161	9972161	Human	1	name
152121797	CV1570313	duplication	NM_022787.4(NMNAT1):c.299+19_299+21dup	Leber congenital amaurosis 9 [RCV002216881]	likely benign	1	9975793	9975794	Human	1	name
152145252	CV1658306	single nucleotide variant	NM_022787.4(NMNAT1):c.75C>A (p.Leu25=)	Leber congenital amaurosis 9 [RCV002219941]	likely benign	1	9972148	9972148	Human	1	name
156306747	CV1931439	single nucleotide variant	NM_022787.4(NMNAT1):c.57C>T (p.Pro19=)	Leber congenital amaurosis 9 [RCV002647928]	likely benign	1	9972130	9972130	Human	1	name
15188326	CV696928	single nucleotide variant	NM_022787.4(NMNAT1):c.78G>A (p.Arg26=)	Leber congenital amaurosis 9 [RCV002066335]	likely benign	1	9972151	9972151	Human	1	name
39457671	CV966367	single nucleotide variant	NM_022787.4(NMNAT1):c.1A>G (p.Met1Val)	Leber congenital amaurosis 9 [RCV001256656]	pathogenic	1	9972074	9972074	Human	1	name
126770669	CV1003087	single nucleotide variant	NM_022787.4(NMNAT1):c.22G>A (p.Glu8Lys)	Leber congenital amaurosis 9 [RCV001322712]	uncertain significance	1	9972095	9972095	Human	1	name
127245348	CV1067693	single nucleotide variant	NM_022787.4(NMNAT1):c.216T>C (p.Leu72=)	Leber congenital amaurosis 9 [RCV001398708]	likely benign	1	9975692	9975692	Human	1	name
127258066	CV1089418	single nucleotide variant	NM_022787.4(NMNAT1):c.126A>G (p.Thr42=)	Leber congenital amaurosis 9 [RCV001427239]	likely benign	1	9975602	9975602	Human	1	name
151864669	CV1477323	single nucleotide variant	NM_022787.4(NMNAT1):c.18G>T (p.Lys6Asn)	Inborn genetic diseases [RCV003289251]\|Leber congenital amaurosis 9 [RCV001939010]	uncertain significance	1	9972091	9972091	Human	2	name
152046498	CV1556267	single nucleotide variant	NM_022787.4(NMNAT1):c.108T>C (p.Asn36=)	Leber congenital amaurosis 9 [RCV002206982]	likely benign	1	9972181	9972181	Human	1	name
597917823	CV3845835	single nucleotide variant	NM_022787.4(NMNAT1):c.144C>T (p.Ile48=)	Leber congenital amaurosis 9 [RCV005183630]	likely benign	1	9975620	9975620	Human	1	name
8603131	CV45801	single nucleotide variant	NM_022787.4(NMNAT1):c.25G>A (p.Val9Met)	Leber congenital amaurosis 9 [RCV000030771]\|Retinal dystrophy [RCV004794347]	pathogenic	1	9972098	9972098	Human	3	name
15134513	CV780786	single nucleotide variant	NM_022787.4(NMNAT1):c.23A>C (p.Glu8Ala)	Inborn genetic diseases [RCV004649392]\|Leber congenital amaurosis 9 [RCV000981760]	benign\|uncertain significance	1	9972096	9972096	Human	2	name
38495211	CV952563	single nucleotide variant	NM_022787.4(NMNAT1):c.13G>A (p.Glu5Lys)	Leber congenital amaurosis 9 [RCV001241800]	uncertain significance	1	9972086	9972086	Human	1	name
127245368	CV1067695	single nucleotide variant	NM_022787.4(NMNAT1):c.316T>C (p.Leu106=)	Leber congenital amaurosis 9 [RCV001398711]	likely benign	1	9981047	9981047	Human	1	name
127303646	CV1110953	single nucleotide variant	NM_022787.4(NMNAT1):c.372A>G (p.Gly124=)	Leber congenital amaurosis 9 [RCV001461980]	likely benign	1	9981103	9981103	Human	1	name
127336038	CV1110954	single nucleotide variant	NM_022787.4(NMNAT1):c.531C>T (p.Ile177=)	Leber congenital amaurosis 9 [RCV001474727]	likely benign	1	9982392	9982392	Human	1	name
127313202	CV1110955	single nucleotide variant	NM_022787.4(NMNAT1):c.651C>T (p.Ile217=)	Leber congenital amaurosis 9 [RCV001457379]	likely benign	1	9982512	9982512	Human	1	name
127326736	CV1131829	single nucleotide variant	NM_022787.4(NMNAT1):c.366G>A (p.Arg122=)	Leber congenital amaurosis 9 [RCV001486126]	likely benign	1	9981097	9981097	Human	1	name
151731788	CV1389898	single nucleotide variant	NM_022787.4(NMNAT1):c.94A>G (p.Lys32Glu)	Leber congenital amaurosis 9 [RCV001910943]	uncertain significance	1	9972167	9972167	Human	1	name
151889468	CV1479689	single nucleotide variant	NM_022787.4(NMNAT1):c.38C>A (p.Ala13Asp)	Leber congenital amaurosis 9 [RCV001888185]	likely pathogenic\|uncertain significance	1	9972111	9972111	Human	1	name
152083751	CV1525380	single nucleotide variant	NM_022787.4(NMNAT1):c.603T>C (p.Asp201=)	Leber congenital amaurosis 9 [RCV002131164]	likely benign	1	9982464	9982464	Human	1	name
152092235	CV1530827	single nucleotide variant	NM_022787.4(NMNAT1):c.462G>A (p.Leu154=)	Leber congenital amaurosis 9 [RCV002114232]	likely benign	1	9982323	9982323	Human	1	name
152121287	CV1547549	single nucleotide variant	NM_022787.4(NMNAT1):c.624C>T (p.Ser208=)	Leber congenital amaurosis 9 [RCV002081586]	likely benign	1	9982485	9982485	Human	1	name
152046889	CV1600457	single nucleotide variant	NM_022787.4(NMNAT1):c.435A>G (p.Thr145=)	Leber congenital amaurosis 9 [RCV002088653]	likely benign	1	9981166	9981166	Human	1	name
152094263	CV1609306	single nucleotide variant	NM_022787.4(NMNAT1):c.654T>C (p.Ala218=)	Leber congenital amaurosis 9 [RCV002172239]	likely benign	1	9982515	9982515	Human	1	name
152149702	CV1616887	single nucleotide variant	NM_022787.4(NMNAT1):c.633C>T (p.His211=)	Leber congenital amaurosis 9 [RCV002201778]	likely benign	1	9982494	9982494	Human	1	name
156351969	CV1870190	single nucleotide variant	NM_022787.4(NMNAT1):c.38C>G (p.Ala13Gly)	Leber congenital amaurosis 9 [RCV003064927]	uncertain significance	1	9972111	9972111	Human	1	name
10044964	CV188783	single nucleotide variant	NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)	Leber congenital amaurosis 9 [RCV001256641]\|Retinal dystrophy [RCV001075815]\|not provided [RCV000171148]	pathogenic\|likely pathogenic\|no classifications from unflagged records	1	9972126	9972126	Human	3	name
10050848	CV192536	single nucleotide variant	NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)	Leber congenital amaurosis 9 [RCV001256640]\|NMNAT1-related disorder [RCV004757972]\|Retinal dystrophy [RCV001074101]\|not provided [RCV000175940]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	9972110	9972110	Human	3	name , trait , alternate_id
156310286	CV1928348	single nucleotide variant	NM_022787.4(NMNAT1):c.59T>A (p.Ile20Asn)	Leber congenital amaurosis 9 [RCV002648122]	uncertain significance	1	9972132	9972132	Human	1	name
156232371	CV1956068	single nucleotide variant	NM_022787.4(NMNAT1):c.543T>C (p.Tyr181=)	Leber congenital amaurosis 9 [RCV002575923]	likely benign	1	9982404	9982404	Human	1	name
156220926	CV2015497	single nucleotide variant	NM_022787.4(NMNAT1):c.606G>A (p.Val202=)	Leber congenital amaurosis 9 [RCV002701003]	likely benign	1	9982467	9982467	Human	1	name
156248309	CV2049570	single nucleotide variant	NM_022787.4(NMNAT1):c.91G>T (p.Ala31Ser)	Leber congenital amaurosis 9 [RCV002791603]	uncertain significance	1	9972164	9972164	Human	1	name
155992940	CV2063845	single nucleotide variant	NM_022787.4(NMNAT1):c.691A>C (p.Arg231=)	Leber congenital amaurosis 9 [RCV002843043]	likely benign	1	9982552	9982552	Human	1	name
156072165	CV2141510	single nucleotide variant	NM_022787.4(NMNAT1):c.768T>C (p.Ser256=)	Leber congenital amaurosis 9 [RCV002978973]	likely benign	1	9982629	9982629	Human	1	name
156109349	CV2161174	single nucleotide variant	NM_022787.4(NMNAT1):c.59T>C (p.Ile20Thr)	Leber congenital amaurosis 9 [RCV003038879]	uncertain significance	1	9972132	9972132	Human	1	name
404980822	CV2850629	single nucleotide variant	NM_022787.4(NMNAT1):c.51C>A (p.Phe17Leu)	not provided [RCV003488151]	uncertain significance	1	9972124	9972124	Human		name
405009487	CV2887182	single nucleotide variant	NM_022787.4(NMNAT1):c.453C>G (p.Val151=)	Leber congenital amaurosis 9 [RCV003527107]	likely benign	1	9982314	9982314	Human	1	name
405185780	CV3005456	single nucleotide variant	NM_022787.4(NMNAT1):c.468G>A (p.Gly156=)	Leber congenital amaurosis 9 [RCV003640206]	likely benign	1	9982329	9982329	Human	1	name
405171453	CV3056567	single nucleotide variant	NM_022787.4(NMNAT1):c.654T>G (p.Ala218=)	Leber congenital amaurosis 9 [RCV003638547]	likely benign	1	9982515	9982515	Human	1	name
405154512	CV3135188	single nucleotide variant	NM_022787.4(NMNAT1):c.792G>A (p.Gly264=)	Leber congenital amaurosis 9 [RCV003840300]	likely benign	1	9982653	9982653	Human	1	name
597872408	CV3769702	single nucleotide variant	NM_022787.4(NMNAT1):c.342G>A (p.Gln114=)	Leber congenital amaurosis 9 [RCV005107960]	likely benign	1	9981073	9981073	Human	1	name
598206173	CV4004362	single nucleotide variant	NM_022787.4(NMNAT1):c.58A>G (p.Ile20Val)	Inborn genetic diseases [RCV005376874]	uncertain significance	1	9972131	9972131	Human	1	name
15182834	CV732680	single nucleotide variant	NM_022787.4(NMNAT1):c.747A>G (p.Glu249=)	Leber congenital amaurosis 9 [RCV002537604]	likely benign	1	9982608	9982608	Human	1	name
15166579	CV746705	single nucleotide variant	NM_022787.4(NMNAT1):c.447A>C (p.Pro149=)	not provided [RCV000926901]	likely benign	1	9982308	9982308	Human		name
21405851	CV799233	single nucleotide variant	NM_022787.4(NMNAT1):c.471A>G (p.Ala157=)	Leber congenital amaurosis 9 [RCV001001280]	benign\|likely benign	1	9982332	9982332	Human	1	name
26911998	CV824566	single nucleotide variant	NM_022787.4(NMNAT1):c.837A>G (p.Thr279=)	Leber congenital amaurosis 9 [RCV001053118]	likely benign\|uncertain significance	1	9982698	9982698	Human	1	name
126770921	CV1023593	single nucleotide variant	NM_022787.4(NMNAT1):c.184C>A (p.Pro62Thr)	Leber congenital amaurosis 9 [RCV001344745]	uncertain significance	1	9975660	9975660	Human	1	name
126918338	CV1040414	single nucleotide variant	NM_022787.4(NMNAT1):c.106A>G (p.Asn36Asp)	Leber congenital amaurosis 9 [RCV001361669]	uncertain significance	1	9972179	9972179	Human	1	name
126918052	CV1052585	single nucleotide variant	NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala)	Leber congenital amaurosis 9 [RCV001372430]\|Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [RCV003339625]	pathogenic\|likely pathogenic	1	9975721	9975721	Human	2	name
151840274	CV1415357	deletion	NM_022787.4(NMNAT1):c.676del (p.Ile226fs)	Leber congenital amaurosis 9 [RCV001921450]	pathogenic	1	9982533	9982533	Human	1	name
151854000	CV1453415	single nucleotide variant	NM_022787.4(NMNAT1):c.213A>C (p.Glu71Asp)	Leber congenital amaurosis 9 [RCV001883106]	uncertain significance	1	9975689	9975689	Human	1	name
151859155	CV1484623	single nucleotide variant	NM_022787.4(NMNAT1):c.255G>A (p.Trp85Ter)	Leber congenital amaurosis 9 [RCV001958992]	pathogenic	1	9975731	9975731	Human	1	name
151714836	CV1510466	deletion	NM_022787.4(NMNAT1):c.469del (p.Ala157fs)	Leber congenital amaurosis 9 [RCV001965023]	pathogenic	1	9982327	9982327	Human	1	name
151843461	CV1514712	single nucleotide variant	NM_022787.4(NMNAT1):c.154G>C (p.Gly52Arg)	Leber congenital amaurosis 9 [RCV001957037]\|not provided [RCV005253988]	uncertain significance	1	9975630	9975630	Human	1	name
156172974	CV1867161	single nucleotide variant	NM_022787.4(NMNAT1):c.253T>C (p.Trp85Arg)	Leber congenital amaurosis 9 [RCV003526221]\|not provided [RCV002508714]	uncertain significance	1	9975729	9975729	Human	1	name
156303728	CV1898412	single nucleotide variant	NM_022787.4(NMNAT1):c.191A>G (p.Tyr64Cys)	Leber congenital amaurosis 9 [RCV003088066]	uncertain significance	1	9975667	9975667	Human	1	name
155962226	CV1931642	duplication	NM_022787.4(NMNAT1):c.793dup (p.Val265fs)	Leber congenital amaurosis 9 [RCV002616789]	uncertain significance	1	9982650	9982651	Human	1	name
156215268	CV2135906	single nucleotide variant	NM_022787.4(NMNAT1):c.165C>G (p.Tyr55Ter)	Leber congenital amaurosis 9 [RCV003007154]	pathogenic	1	9975641	9975641	Human	1	name
156278726	CV2164566	single nucleotide variant	NM_022787.4(NMNAT1):c.128T>A (p.Val43Asp)	Leber congenital amaurosis 9 [RCV003027242]	uncertain significance	1	9975604	9975604	Human	1	name
156271709	CV2168108	single nucleotide variant	NM_022787.4(NMNAT1):c.167A>G (p.Lys56Arg)	Leber congenital amaurosis 9 [RCV003027014]	uncertain significance	1	9975643	9975643	Human	1	name
329351187	CV2476370	single nucleotide variant	NM_022787.4(NMNAT1):c.193C>T (p.His65Tyr)	not provided [RCV003222602]	uncertain significance	1	9975669	9975669	Human		name
404996818	CV2863207	single nucleotide variant	NM_022787.4(NMNAT1):c.120G>T (p.Arg40Ser)	Leber congenital amaurosis 9 [RCV003525659]	uncertain significance	1	9975596	9975596	Human	1	name
405179263	CV3072468	single nucleotide variant	NM_022787.4(NMNAT1):c.254G>A (p.Trp85Ter)	Leber congenital amaurosis 9 [RCV003639347]	pathogenic	1	9975730	9975730	Human	1	name
598191964	CV3890630	single nucleotide variant	NM_022787.4(NMNAT1):c.140T>A (p.Ile47Asn)	Leber congenital amaurosis 9 [RCV005251507]	pathogenic	1	9975616	9975616	Human	1	name
598227590	CV3896001	duplication	NM_022787.4(NMNAT1):c.476dup (p.Leu159fs)	NMNAT1-related retinopathy [RCV005362261]	likely pathogenic	1	9982334	9982335	Human	1	name , trait
12905596	CV413220	single nucleotide variant	NM_022787.4(NMNAT1):c.109G>A (p.Gly37Arg)	not provided [RCV000487717]	uncertain significance	1	9972182	9972182	Human		name
13434951	CV431637	single nucleotide variant	NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val)	Leber congenital amaurosis 9 [RCV001314168]\|Leber congenital amaurosis [RCV000504653]	likely pathogenic\|uncertain significance	1	9975631	9975631	Human	2	name
13435119	CV431639	duplication	NM_022787.4(NMNAT1):c.661dup (p.Ile221fs)	Leber congenital amaurosis [RCV000504964]\|not provided [RCV005252935]	likely pathogenic	1	9982521	9982522	Human	1	name
13705749	CV432018	single nucleotide variant	NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys)	Cone dystrophy [RCV000664187]\|Leber congenital amaurosis 9 [RCV001372429]	pathogenic\|likely pathogenic	1	9975747	9975747	Human	3	name
14697950	CV623249	single nucleotide variant	NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu)	Leber congenital amaurosis 9 [RCV000787026]	likely pathogenic	1	9975681	9975681	Human	1	name
26910734	CV856128	single nucleotide variant	NM_022787.4(NMNAT1):c.104T>C (p.Met35Thr)	Retinal dystrophy [RCV001075383]	likely pathogenic	1	9972177	9972177	Human	2	name
26909884	CV856129	single nucleotide variant	NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)	Leber congenital amaurosis 9 [RCV001256659]\|Retinal dystrophy [RCV001074108]\|Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [RCV002221606]\|not provided [RCV001551709]	pathogenic\|likely pathogenic	1	9975769	9975769	Human	4	name
28879501	CV858980	single nucleotide variant	NM_022787.4(NMNAT1):c.199G>T (p.Val67Phe)	Leber congenital amaurosis 9 [RCV001862682]\|not provided [RCV001090801]	pathogenic\|uncertain significance	1	9975675	9975675	Human	1	name
28879507	CV858981	deletion	NM_022787.4(NMNAT1):c.364del (p.Arg122fs)	Leber congenital amaurosis 9 [RCV001256643]\|not provided [RCV001090802]	pathogenic	1	9981093	9981093	Human	1	name
38492818	CV952564	single nucleotide variant	NM_022787.4(NMNAT1):c.163T>A (p.Tyr55Asn)	Leber congenital amaurosis 9 [RCV001240307]	uncertain significance	1	9975639	9975639	Human	1	name
38468475	CV952565	single nucleotide variant	NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)	Leber congenital amaurosis 9 [RCV001248040]	pathogenic	1	9975681	9975681	Human	1	name
39457634	CV966368	single nucleotide variant	NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg)	Leber congenital amaurosis 9 [RCV001256642]	likely pathogenic	1	9975655	9975655	Human	1	name
39457645	CV966369	single nucleotide variant	NM_022787.4(NMNAT1):c.238G>A (p.Val80Met)	Leber congenital amaurosis 9 [RCV001256657]	likely pathogenic	1	9975714	9975714	Human	1	name
39457646	CV966370	single nucleotide variant	NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe)	Leber congenital amaurosis 9 [RCV001256658]	likely pathogenic	1	9975720	9975720	Human	1	name
127267123	CV970652	single nucleotide variant	NM_022787.4(NMNAT1):c.196C>T (p.Arg66Trp)	Leber congenital amaurosis 9 [RCV001381857]	pathogenic	1	9975672	9975672	Human	1	name
126755116	CV987829	single nucleotide variant	NM_022787.4(NMNAT1):c.206T>A (p.Met69Lys)	Leber congenital amaurosis 9 [RCV001298280]	uncertain significance	1	9975682	9975682	Human	1	name
126772921	CV1003088	single nucleotide variant	NM_022787.4(NMNAT1):c.516A>T (p.Glu172Asp)	Leber congenital amaurosis 9 [RCV001324028]	uncertain significance	1	9982377	9982377	Human	1	name
126728014	CV1003089	single nucleotide variant	NM_022787.4(NMNAT1):c.556G>A (p.Val186Ile)	Leber congenital amaurosis 9 [RCV001312417]	uncertain significance	1	9982417	9982417	Human	1	name
126740687	CV1003090	single nucleotide variant	NM_022787.4(NMNAT1):c.610T>G (p.Trp204Gly)	Leber congenital amaurosis 9 [RCV001325237]	uncertain significance	1	9982471	9982471	Human	1	name
126762027	CV1023594	single nucleotide variant	NM_022787.4(NMNAT1):c.547C>T (p.Leu183Phe)	Leber congenital amaurosis 9 [RCV001340858]\|not provided [RCV003132433]	likely pathogenic\|uncertain significance	1	9982408	9982408	Human	1	name
126774492	CV1023595	single nucleotide variant	NM_022787.4(NMNAT1):c.763A>G (p.Ser255Gly)	Leber congenital amaurosis 9 [RCV001347287]	uncertain significance	1	9982624	9982624	Human	1	name
126769867	CV1023596	single nucleotide variant	NM_022787.4(NMNAT1):c.793G>A (p.Val265Ile)	Leber congenital amaurosis 9 [RCV001344158]	uncertain significance	1	9982654	9982654	Human	1	name
126911092	CV1040415	single nucleotide variant	NM_022787.4(NMNAT1):c.589A>G (p.Ile197Val)	Leber congenital amaurosis 9 [RCV001369067]	uncertain significance	1	9982450	9982450	Human	1	name
126910983	CV1040416	single nucleotide variant	NM_022787.4(NMNAT1):c.664T>A (p.Ser222Thr)	Leber congenital amaurosis 9 [RCV001369006]	uncertain significance	1	9982525	9982525	Human	1	name
126918987	CV1040417	single nucleotide variant	NM_022787.4(NMNAT1):c.833A>C (p.Lys278Thr)	Inborn genetic diseases [RCV002550023]\|Leber congenital amaurosis 9 [RCV001362039]	uncertain significance	1	9982694	9982694	Human	2	name
126918049	CV1052582	single nucleotide variant	NM_022787.4(NMNAT1):c.500A>G (p.Asn167Ser)	Leber congenital amaurosis 9 [RCV001372427]\|not provided [RCV001780269]	pathogenic\|likely pathogenic	1	9982361	9982361	Human	1	name
151353078	CV1325922	single nucleotide variant	NM_022787.4(NMNAT1):c.466G>A (p.Gly156Arg)	not provided [RCV001816042]	likely pathogenic	1	9982327	9982327	Human		name
151757770	CV1340435	single nucleotide variant	NM_022787.4(NMNAT1):c.553T>C (p.Cys185Arg)	Leber congenital amaurosis 9 [RCV001913630]	uncertain significance	1	9982414	9982414	Human	1	name
151857369	CV1363801	single nucleotide variant	NM_022787.4(NMNAT1):c.829G>A (p.Ala277Thr)	Leber congenital amaurosis 9 [RCV001904851]	uncertain significance	1	9982690	9982690	Human	1	name
151717767	CV1368549	single nucleotide variant	NM_022787.4(NMNAT1):c.524C>T (p.Thr175Ile)	Inborn genetic diseases [RCV004955939]\|Leber congenital amaurosis 9 [RCV001965480]	uncertain significance	1	9982385	9982385	Human	2	name
151809902	CV1374960	single nucleotide variant	NM_022787.4(NMNAT1):c.550A>G (p.Ile184Val)	Leber congenital amaurosis 9 [RCV001933093]	uncertain significance	1	9982411	9982411	Human	1	name
151773070	CV1401288	single nucleotide variant	NM_022787.4(NMNAT1):c.480G>C (p.Leu160Phe)	Leber congenital amaurosis 9 [RCV002025549]	uncertain significance	1	9982341	9982341	Human	1	name
151773921	CV1402276	single nucleotide variant	NM_022787.4(NMNAT1):c.554G>A (p.Cys185Tyr)	Leber congenital amaurosis 9 [RCV001929791]	uncertain significance	1	9982415	9982415	Human	1	name
151787989	CV1412932	single nucleotide variant	NM_022787.4(NMNAT1):c.397C>A (p.Gln133Lys)	Leber congenital amaurosis 9 [RCV001989788]	uncertain significance	1	9981128	9981128	Human	1	name
151886526	CV1415048	single nucleotide variant	NM_022787.4(NMNAT1):c.410A>T (p.Gln137Leu)	Leber congenital amaurosis 9 [RCV001887583]	uncertain significance	1	9981141	9981141	Human	1	name
151757077	CV1443472	single nucleotide variant	NM_022787.4(NMNAT1):c.578C>T (p.Ala193Val)	Leber congenital amaurosis 9 [RCV001872827]	uncertain significance	1	9982439	9982439	Human	1	name
151803687	CV1444044	single nucleotide variant	NM_022787.4(NMNAT1):c.391G>A (p.Glu131Lys)	Leber congenital amaurosis 9 [RCV001917943]	uncertain significance	1	9981122	9981122	Human	1	name
151877762	CV1481135	single nucleotide variant	NM_022787.4(NMNAT1):c.520A>G (p.Ile174Val)	Leber congenital amaurosis 9 [RCV001982122]	uncertain significance	1	9982381	9982381	Human	1	name
151739461	CV1490399	single nucleotide variant	NM_022787.4(NMNAT1):c.491C>T (p.Ala164Val)	Leber congenital amaurosis 9 [RCV001985096]	uncertain significance	1	9982352	9982352	Human	1	name
151813920	CV1492159	single nucleotide variant	NM_022787.4(NMNAT1):c.563G>A (p.Arg188Gln)	Leber congenital amaurosis 9 [RCV002029244]	uncertain significance	1	9982424	9982424	Human	1	name
151766558	CV1492654	single nucleotide variant	NM_022787.4(NMNAT1):c.620G>A (p.Arg207Gln)	Leber congenital amaurosis 9 [RCV001914564]	uncertain significance	1	9982481	9982481	Human	1	name
151874783	CV1511586	single nucleotide variant	NM_022787.4(NMNAT1):c.503T>G (p.Leu168Trp)	Leber congenital amaurosis 9 [RCV001960908]	uncertain significance	1	9982364	9982364	Human	1	name
156093780	CV1980789	single nucleotide variant	NM_022787.4(NMNAT1):c.383A>G (p.Lys128Arg)	Leber congenital amaurosis 9 [RCV002621955]	uncertain significance	1	9981114	9981114	Human	1	name
156342811	CV1985054	single nucleotide variant	NM_022787.4(NMNAT1):c.455A>G (p.Lys152Arg)	Leber congenital amaurosis 9 [RCV002631516]	uncertain significance	1	9982316	9982316	Human	1	name
155974580	CV2062679	single nucleotide variant	NM_022787.4(NMNAT1):c.827A>T (p.Glu276Val)	Leber congenital amaurosis 9 [RCV002842229]	uncertain significance	1	9982688	9982688	Human	1	name
156347660	CV2191354	single nucleotide variant	NM_022787.4(NMNAT1):c.648G>A (p.Trp216Ter)	Leber congenital amaurosis 9 [RCV003048100]	pathogenic	1	9982509	9982509	Human	1	name
156219462	CV2254057	single nucleotide variant	NM_022787.4(NMNAT1):c.628A>G (p.Ile210Val)	Inborn genetic diseases [RCV002804630]	uncertain significance	1	9982489	9982489	Human	1	name
11559828	CV259687	single nucleotide variant	NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter)	Inborn genetic diseases [RCV004649113]\|Leber congenital amaurosis 9 [RCV000030768]\|NMNAT1-related disorder [RCV004757984]\|not provided [RCV000255071]	pathogenic	1	9982368	9982368	Human	2	name , trait , alternate_id
401865916	CV2778932	single nucleotide variant	NM_022787.4(NMNAT1):c.641A>T (p.Asn214Ile)	Inborn genetic diseases [RCV003359771]	uncertain significance	1	9982502	9982502	Human	1	name
405010248	CV2898157	single nucleotide variant	NM_022787.4(NMNAT1):c.721C>T (p.Pro241Ser)	Leber congenital amaurosis 9 [RCV003527180]	pathogenic	1	9982582	9982582	Human	1	name
405186718	CV3017758	single nucleotide variant	NM_022787.4(NMNAT1):c.832A>G (p.Lys278Glu)	Leber congenital amaurosis 9 [RCV003640315]	uncertain significance	1	9982693	9982693	Human	1	name
402468776	CV3174593	single nucleotide variant	NM_022787.4(NMNAT1):c.724G>T (p.Asp242Tyr)	Leber congenital amaurosis 9 [RCV003873703]	uncertain significance	1	9982585	9982585	Human	1	name
405725035	CV3359205	single nucleotide variant	NM_022787.4(NMNAT1):c.532G>C (p.Val178Leu)	Inborn genetic diseases [RCV004495709]	uncertain significance	1	9982393	9982393	Human	1	name
596945717	CV3407587	single nucleotide variant	NM_022787.4(NMNAT1):c.679C>T (p.Arg227Trp)	Retinal dystrophy [RCV004818680]	likely pathogenic	1	9982540	9982540	Human	2	name
12742942	CV361577	single nucleotide variant	NM_022787.4(NMNAT1):c.710G>A (p.Arg237His)	Leber congenital amaurosis 9 [RCV005252883]\|not provided [RCV000415779]	likely pathogenic\|uncertain significance	1	9982571	9982571	Human	1	name
597859766	CV3744683	single nucleotide variant	NM_022787.4(NMNAT1):c.523A>T (p.Thr175Ser)	Leber congenital amaurosis 9 [RCV005067228]	uncertain significance	1	9982384	9982384	Human	1	name
597936753	CV3777719	single nucleotide variant	NM_022787.4(NMNAT1):c.303C>A (p.His101Gln)	Leber congenital amaurosis 9 [RCV005132632]	uncertain significance	1	9981034	9981034	Human	1	name
598206170	CV4004361	single nucleotide variant	NM_022787.4(NMNAT1):c.608T>C (p.Leu203Pro)	Inborn genetic diseases [RCV005376873]	uncertain significance	1	9982469	9982469	Human	1	name
13435062	CV431638	single nucleotide variant	NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr)	Leber congenital amaurosis [RCV000504848]	likely pathogenic	1	9982346	9982346	Human	1	name
13434964	CV431640	single nucleotide variant	NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln)	Leber congenital amaurosis [RCV000504672]	likely pathogenic	1	9982597	9982597	Human	1	name
13485598	CV448403	single nucleotide variant	NM_022787.4(NMNAT1):c.827A>C (p.Glu276Ala)	Leber congenital amaurosis 9 [RCV000530835]\|Leber congenital amaurosis 9 [RCV005398801]	likely benign\|uncertain significance	1	9982688	9982688	Human	1	name
13497491	CV448406	single nucleotide variant	NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser)	Leber congenital amaurosis 9 [RCV000538650]\|Retinal dystrophy [RCV004817767]	pathogenic\|likely pathogenic	1	9982577	9982577	Human	3	name
8603124	CV45793	single nucleotide variant	NM_022787.4(NMNAT1):c.838T>C (p.Ter280Gln)	Leber congenital amaurosis 9 [RCV000030763]	pathogenic	1	9982699	9982699	Human	1	name
8603125	CV45794	single nucleotide variant	NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp)	Leber congenital amaurosis 9 [RCV000030764]\|Retinal dystrophy [RCV004794346]\|not provided [RCV001090803]	pathogenic	1	9982480	9982480	Human	3	name
8603126	CV45795	single nucleotide variant	NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	Global developmental delay [RCV001003567]\|Inborn genetic diseases [RCV004639123]\|Leber congenital amaurosis 9 [RCV000030765]\|Leber congenital amaurosis 9 [RCV005394179]\|Leber congenital amaurosis [RCV000504859]\|NMNAT1-related disorder [RCV004757953]\|Retinal dyst ... (more) rophy [RCV001075816]\|not provided [RCV000255806]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	9982630	9982630	Human	16	name , trait , alternate_id
8603126	CV45795	single nucleotide variant	NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	Global developmental delay [RCV001003567]\|Inborn genetic diseases [RCV004639123]\|Leber congenital amaurosis 9 [RCV000030765]\|Leber congenital amaurosis 9 [RCV005394179]\|Leber congenital amaurosis [RCV000504859]\|NMNAT1-related disorder [RCV004757953]\|Retinal dyst ... (more) rophy [RCV001075816]\|not provided [RCV000255806]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	9982630	9982631	Human	16	name , trait , alternate_id
8603127	CV45796	single nucleotide variant	NM_022787.4(NMNAT1):c.817A>G (p.Asn273Asp)	Leber congenital amaurosis 9 [RCV000030766]	pathogenic	1	9982678	9982678	Human	1	name
8603128	CV45797	single nucleotide variant	NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe)	Leber congenital amaurosis 9 [RCV000030767]	pathogenic\|uncertain significance	1	9982312	9982312	Human	1	name
8603129	CV45799	single nucleotide variant	NM_022787.4(NMNAT1):c.710G>T (p.Arg237Leu)	Leber congenital amaurosis 9 [RCV000030769]	pathogenic	1	9982571	9982571	Human	1	name
8603130	CV45800	single nucleotide variant	NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val)	Leber congenital amaurosis 9 [RCV000030770]	pathogenic	1	9982318	9982318	Human	1	name
15146566	CV690681	single nucleotide variant	NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn)	Leber congenital amaurosis 9 [RCV001002029]	benign\|likely benign	1	9982625	9982625	Human	1	name
15134278	CV780787	single nucleotide variant	NM_022787.4(NMNAT1):c.493G>A (p.Val165Ile)	Inborn genetic diseases [RCV002550566]\|Leber congenital amaurosis 9 [RCV000981705]\|Leber congenital amaurosis 9 [RCV005392613]\|NMNAT1-related disorder [RCV003962951]\|not provided [RCV004711489]	likely benign\|uncertain significance	1	9982354	9982354	Human	3	name , trait , alternate_id
38464944	CV801331	single nucleotide variant	NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr)	Leber congenital amaurosis [RCV001199715]	pathogenic	1	9982490	9982490	Human	1	name
26909401	CV801332	single nucleotide variant	NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln)	Cone-rod dystrophy [RCV001199714]\|Leber congenital amaurosis 9 [RCV001862732]\|Retinal dystrophy [RCV001073398]	pathogenic\|likely pathogenic\|uncertain significance	1	9982541	9982541	Human	6	name
26903160	CV824565	single nucleotide variant	NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)	Leber congenital amaurosis 9 [RCV001048869]\|Retinal dystrophy [RCV001073738]	pathogenic\|likely pathogenic	1	9982570	9982570	Human	3	name
8629745	CV84892	single nucleotide variant	NM_022787.3(NMNAT1):c.695G>A (p.Arg232Lys)	Malignant melanoma [RCV000064974]	not provided	1	9982556	9982556	Human		name
28879520	CV858982	single nucleotide variant	NM_022787.4(NMNAT1):c.634G>A (p.Val212Met)	Leber congenital amaurosis 9 [RCV001376488]\|Leber congenital amaurosis 9 [RCV005394733]\|not provided [RCV001090804]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	9982495	9982495	Human	1	name
38489192	CV922181	single nucleotide variant	NM_022787.4(NMNAT1):c.299G>A (p.Arg100Lys)	Leber congenital amaurosis 9 [RCV001221606]	uncertain significance	1	9975775	9975775	Human	1	name
38492009	CV922182	single nucleotide variant	NM_022787.4(NMNAT1):c.532G>A (p.Val178Met)	Leber congenital amaurosis 9 [RCV001223249]	likely pathogenic\|uncertain significance	1	9982393	9982393	Human	1	name
38471114	CV930717	single nucleotide variant	NM_022787.4(NMNAT1):c.473A>T (p.Asp158Val)	Leber congenital amaurosis 9 [RCV001202762]	uncertain significance	1	9982334	9982334	Human	1	name
38466728	CV942154	single nucleotide variant	NM_022787.4(NMNAT1):c.370G>A (p.Gly124Arg)	Leber congenital amaurosis 9 [RCV001230292]	uncertain significance	1	9981101	9981101	Human	1	name
38459536	CV942155	single nucleotide variant	NM_022787.4(NMNAT1):c.599C>T (p.Ser200Leu)	Leber congenital amaurosis 9 [RCV001229158]	uncertain significance	1	9982460	9982460	Human	1	name
39457647	CV966371	single nucleotide variant	NM_022787.4(NMNAT1):c.319G>T (p.Glu107Ter)	Leber congenital amaurosis 9 [RCV001256660]	pathogenic	1	9981050	9981050	Human	1	name
39457648	CV966372	single nucleotide variant	NM_022787.4(NMNAT1):c.376A>T (p.Lys126Ter)	Leber congenital amaurosis 9 [RCV001256661]	pathogenic	1	9981107	9981107	Human	1	name
39457649	CV966373	single nucleotide variant	NM_022787.4(NMNAT1):c.439G>C (p.Ala147Pro)	Leber congenital amaurosis 9 [RCV001256662]	likely pathogenic	1	9981170	9981170	Human	1	name
39457635	CV966374	single nucleotide variant	NM_022787.4(NMNAT1):c.458T>C (p.Leu153Pro)	Leber congenital amaurosis 9 [RCV001256644]	likely pathogenic	1	9982319	9982319	Human	1	name
39457638	CV966375	single nucleotide variant	NM_022787.4(NMNAT1):c.500A>T (p.Asn167Ile)	Leber congenital amaurosis 9 [RCV001256647]	likely pathogenic	1	9982361	9982361	Human	1	name
39457651	CV966376	single nucleotide variant	NM_022787.4(NMNAT1):c.518A>G (p.Asp173Gly)	Leber congenital amaurosis 9 [RCV001256664]	likely pathogenic	1	9982379	9982379	Human	1	name
39457636	CV966377	single nucleotide variant	NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys)	Leber congenital amaurosis 9 [RCV001256645]	likely pathogenic\|uncertain significance	1	9982403	9982403	Human	1	name
39457640	CV966378	single nucleotide variant	NM_022787.4(NMNAT1):c.593A>G (p.Tyr198Cys)	Leber congenital amaurosis 9 [RCV001256649]	uncertain significance	1	9982454	9982454	Human	1	name
39457652	CV966379	single nucleotide variant	NM_022787.4(NMNAT1):c.643G>T (p.Glu215Ter)	Leber congenital amaurosis 9 [RCV001256665]	pathogenic	1	9982504	9982504	Human	1	name
39457653	CV966380	single nucleotide variant	NM_022787.4(NMNAT1):c.647G>C (p.Trp216Ser)	Leber congenital amaurosis 9 [RCV001256666]	likely pathogenic	1	9982508	9982508	Human	1	name
39457641	CV966381	single nucleotide variant	NM_022787.4(NMNAT1):c.650T>A (p.Ile217Asn)	Leber congenital amaurosis 9 [RCV001256650]	likely pathogenic	1	9982511	9982511	Human	1	name
39457637	CV966382	single nucleotide variant	NM_022787.4(NMNAT1):c.717G>T (p.Leu239Phe)	Leber congenital amaurosis 9 [RCV001256646]	likely pathogenic	1	9982578	9982578	Human	1	name
39457654	CV966383	single nucleotide variant	NM_022787.4(NMNAT1):c.752A>C (p.His251Pro)	Leber congenital amaurosis 9 [RCV001256667]	likely pathogenic\|uncertain significance	1	9982613	9982613	Human	1	name
126765853	CV987830	single nucleotide variant	NM_022787.4(NMNAT1):c.387G>T (p.Trp129Cys)	Leber congenital amaurosis 9 [RCV001301650]	uncertain significance	1	9981118	9981118	Human	1	name
126760670	CV987831	single nucleotide variant	NM_022787.4(NMNAT1):c.512G>A (p.Ser171Asn)	Inborn genetic diseases [RCV003246864]\|Leber congenital amaurosis 9 [RCV001309383]	uncertain significance	1	9982373	9982373	Human	2	name
405186725	CV3017764	microsatellite	NM_022787.4(NMNAT1):c.282_283del (p.Glu94fs)	Leber congenital amaurosis 9 [RCV003640316]	pathogenic	1	9975755	9975756	Human		name
151816020	CV1344386	deletion	NM_022787.4(NMNAT1):c.393_394del (p.Glu131fs)	Leber congenital amaurosis 9 [RCV001919087]	pathogenic	1	9981123	9981124	Human	1	name
12743302	CV361939	deletion	NM_001297778.1(NMNAT1):c.(115+1_116-1)_(299+1_300-1)del	Retinal dystrophy [RCV000416284]	likely pathogenic				Human	2	name

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