ClinVar for MedGen (Select 325277) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247741	NC_000001.11:g.(?_9981031)_(9982701_?)dup	NMNAT1	Duplication	Leber congenital amaurosis 9	GPathogenic
Select item 3015616	NM_022787.4(NMNAT1):c.724G>T (p.Asp242Tyr)	NMNAT1 (D242Y)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 2981718	NM_022787.4(NMNAT1):c.792G>A (p.Gly264=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2958636	NM_022787.4(NMNAT1):c.439+12T>C	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2919586	NM_022787.4(NMNAT1):c.254G>A (p.Trp85Ter)	NMNAT1 (W85*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 9	GPathogenic
Select item 2895791	NM_022787.4(NMNAT1):c.654T>G (p.Ala218=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2856865	NM_022787.4(NMNAT1):c.282_283del (p.Glu94fs)	NMNAT1 (E94fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 9	GPathogenic
Select item 2856859	NM_022787.4(NMNAT1):c.832A>G (p.Lys278Glu)	NMNAT1 (K278E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 2848213	NM_022787.4(NMNAT1):c.468G>A (p.Gly156=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2811234	NM_022787.4(NMNAT1):c.299+19A>G	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2801595	NM_022787.4(NMNAT1):c.300-12G>C	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2733823	NM_022787.4(NMNAT1):c.721C>T (p.Pro241Ser)	NMNAT1 (P241S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GPathogenic
Select item 2731872	NM_022787.4(NMNAT1):c.453C>G (p.Val151=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2704795	NM_022787.4(NMNAT1):c.120G>T (p.Arg40Ser)	NMNAT1 (R40S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 2426777	NC_000001.10:g.(?_10041069)_(10042759_?)del	NMNAT1	Deletion	Leber congenital amaurosis 9	GPathogenic
Select item 2426776	NC_000001.10:g.(?_10027411)_(10045246_?)del	NMNAT1	Deletion	Leber congenital amaurosis 9	GPathogenic
Select item 2426775	NC_000001.10:g.(?_10032132)_(10035853_?)del	NMNAT1	Deletion	Leber congenital amaurosis 9	GPathogenic
Select item 2426774	NC_000001.10:g.(?_10032132)_(10032266_?)del	NMNAT1	Deletion	Leber congenital amaurosis 9	GPathogenic
Select item 2202697	NM_022787.4(NMNAT1):c.59T>A (p.Ile20Asn)	NMNAT1 (I20N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 2202316	NM_022787.4(NMNAT1):c.57C>T (p.Pro19=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2199575	NM_022787.4(NMNAT1):c.115+1G>C	NMNAT1	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 2191199	NM_022787.4(NMNAT1):c.793dup (p.Val265fs)	NMNAT1 (V265fs)	Duplication (frameshift variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 2164506	NM_022787.4(NMNAT1):c.191A>G (p.Tyr64Cys)	NMNAT1 (Y64C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 2161487	NM_022787.4(NMNAT1):c.115+16A>G	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2145245	NM_022787.4(NMNAT1):c.38C>G (p.Ala13Gly)	NMNAT1 (A13G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 2131219	NM_022787.4(NMNAT1):c.648G>A (p.Trp216Ter)	NMNAT1 (W216*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 9	GPathogenic
Select item 2113639	NM_022787.4(NMNAT1):c.59T>C (p.Ile20Thr)	NMNAT1 (I20T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 2113278	NM_022787.4(NMNAT1):c.128T>A (p.Val43Asp)	NMNAT1 (V43D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 2112826	NM_022787.4(NMNAT1):c.167A>G (p.Lys56Arg)	NMNAT1 (K56R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 2081952	NM_022787.4(NMNAT1):c.165C>G (p.Tyr55Ter)	NMNAT1 (Y55*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 9	GPathogenic
Select item 2075837	NM_022787.4(NMNAT1):c.768T>C (p.Ser256=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2012339	NM_022787.4(NMNAT1):c.691A>C (p.Arg231=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2007319	NM_022787.4(NMNAT1):c.827A>T (p.Glu276Val)	NMNAT1 (E276V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1995070	NM_022787.4(NMNAT1):c.91G>T (p.Ala31Ser)	NMNAT1 (A31S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1956651	NM_022787.4(NMNAT1):c.606G>A (p.Val202=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1946264	NM_022787.4(NMNAT1):c.115+14C>T	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1931339	NM_022787.4(NMNAT1):c.455A>G (p.Lys152Arg)	NMNAT1 (K152R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1927939	NM_022787.4(NMNAT1):c.383A>G (p.Lys128Arg)	NMNAT1 (K128R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1896682	NM_022787.4(NMNAT1):c.543T>C (p.Tyr181=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1810158	NM_022787.4(NMNAT1):c.253T>C (p.Trp85Arg)	NMNAT1 (W85R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1672632	NM_022787.4(NMNAT1):c.633C>T (p.His211=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1653527	NM_022787.4(NMNAT1):c.88C>T (p.Leu30=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1641827	NM_022787.4(NMNAT1):c.116-11T>C	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1637352	NM_022787.4(NMNAT1):c.603T>C (p.Asp201=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1627609	NM_022787.4(NMNAT1):c.462G>A (p.Leu154=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1615607	NM_022787.4(NMNAT1):c.624C>T (p.Ser208=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1581898	NM_022787.4(NMNAT1):c.435A>G (p.Thr145=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1572687	NM_022787.4(NMNAT1):c.75C>A (p.Leu25=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1568221	NM_022787.4(NMNAT1):c.299+19_299+21dup	NMNAT1	Duplication (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1565517	NM_022787.4(NMNAT1):c.300-4A>G	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1563269	NM_022787.4(NMNAT1):c.108T>C (p.Asn36=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1540904	NM_022787.4(NMNAT1):c.654T>C (p.Ala218=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1540568	NM_022787.4(NMNAT1):c.115+15C>T	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1540095	NM_022787.4(NMNAT1):c.299+13T>G	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1534503	NM_022787.4(NMNAT1):c.300-10T>G	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1533218	NM_022787.4(NMNAT1):c.299+12G>T	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1531751	NM_022787.4(NMNAT1):c.439+7A>G	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1514345	NM_022787.4(NMNAT1):c.563G>A (p.Arg188Gln)	NMNAT1 (R188Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1503572	NM_022787.4(NMNAT1):c.480G>C (p.Leu160Phe)	NMNAT1 (L160F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1486767	NM_022787.4(NMNAT1):c.115+1G>A	NMNAT1	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 1479557	NC_000001.10:g.(?_10003560)_(10035853_?)dup	NMNAT1	Duplication	Leber congenital amaurosis 9	GUncertain significance
Select item 1465001	NM_022787.4(NMNAT1):c.154G>C (p.Gly52Arg)	NMNAT1 (G52R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1463149	NM_022787.4(NMNAT1):c.503T>G (p.Leu168Trp)	NMNAT1 (L168W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1459432	NM_022787.4(NMNAT1):c.255G>A (p.Trp85Ter)	NMNAT1 (W85*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 9	GPathogenic
Select item 1451670	NC_000001.10:g.(?_10041069)_(10041248_?)del	NMNAT1	Deletion	Leber congenital amaurosis 9	GPathogenic
Select item 1449749	NM_022787.4(NMNAT1):c.397C>A (p.Gln133Lys)	NMNAT1 (Q133K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1448556	NC_000001.10:g.(?_10003560)_(10042759_?)dup	NMNAT1	Duplication	Leber congenital amaurosis 9	GUncertain significance
Select item 1445528	NM_022787.4(NMNAT1):c.491C>T (p.Ala164Val)	NMNAT1 (A164V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1440099	NM_022787.4(NMNAT1):c.524C>T (p.Thr175Ile)	NMNAT1 (T175I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1437729	NM_022787.4(NMNAT1):c.469del (p.Ala157fs)	NMNAT1 (A157fs)	Deletion (frameshift variant)	Leber congenital amaurosis 9	GPathogenic
Select item 1435359	NM_022787.4(NMNAT1):c.116-2A>G	NMNAT1	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 9	GPathogenic
Select item 1432880	NM_022787.4(NMNAT1):c.520A>G (p.Ile174Val)	NMNAT1 (I174V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1429590	NM_022787.4(NMNAT1):c.18G>T (p.Lys6Asn)	NMNAT1 (K6N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1426207	NC_000001.10:g.(?_10035630)_(10041248_?)del	NMNAT1	Deletion	Leber congenital amaurosis 9	GPathogenic
Select item 1424174	NM_022787.4(NMNAT1):c.676del (p.Ile226fs)	NMNAT1 (I226fs)	Deletion (frameshift variant)	Leber congenital amaurosis 9	GPathogenic
Select item 1415453	NM_022787.4(NMNAT1):c.550A>G (p.Ile184Val)	NMNAT1 (I184V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1412405	NM_022787.4(NMNAT1):c.393_394del (p.Glu131fs)	NMNAT1 (E131fs)	Deletion (frameshift variant)	Leber congenital amaurosis 9	GPathogenic
Select item 1412359	NC_000001.10:g.(?_10032132)_(10041248_?)dup	NMNAT1	Duplication	Leber congenital amaurosis 9	GUncertain significance
Select item 1409364	NM_022787.4(NMNAT1):c.553T>C (p.Cys185Arg)	NMNAT1 (C185R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1399954	NM_022787.4(NMNAT1):c.391G>A (p.Glu131Lys)	NMNAT1 (E131K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1397175	NM_022787.4(NMNAT1):c.410A>T (p.Gln137Leu)	NMNAT1 (Q137L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1391218	NM_022787.4(NMNAT1):c.94A>G (p.Lys32Glu)	NMNAT1 (K32E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1378224	NM_022787.4(NMNAT1):c.620G>A (p.Arg207Gln)	NMNAT1 (R207Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1376825	NM_022787.4(NMNAT1):c.38C>A (p.Ala13Asp)	NMNAT1 (A13D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 1374446	NM_022787.4(NMNAT1):c.213A>C (p.Glu71Asp)	NMNAT1 (E71D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1372227	NM_022787.4(NMNAT1):c.578C>T (p.Ala193Val)	NMNAT1 (A193V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1365406	NM_022787.4(NMNAT1):c.554G>A (p.Cys185Tyr)	NMNAT1 (C185Y)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1360359	NM_022787.4(NMNAT1):c.829G>A (p.Ala277Thr)	NMNAT1 (A277T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1167601	NM_022787.4(NMNAT1):c.440-16G>T	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GBenign
Select item 1147583	NM_022787.4(NMNAT1):c.12C>T (p.Ser4=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1146793	NM_022787.4(NMNAT1):c.366G>A (p.Arg122=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1138370	NM_022787.4(NMNAT1):c.531C>T (p.Ile177=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1129018	NM_022787.4(NMNAT1):c.372A>G (p.Gly124=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1125603	NM_022787.4(NMNAT1):c.651C>T (p.Ile217=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1122623	NM_022787.4(NMNAT1):c.115+8C>G	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1117508	NM_022787.4(NMNAT1):c.66C>T (p.Asn22=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1103532	NM_022787.4(NMNAT1):c.126A>G (p.Thr42=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1085466	NM_022787.4(NMNAT1):c.300-5T>C	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1082430	NM_022787.4(NMNAT1):c.316T>C (p.Leu106=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1082427	NM_022787.4(NMNAT1):c.216T>C (p.Leu72=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign

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