ClinVar for MedGen (Select 462042) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362345	NM_001008212.2(OPTN):c.1169A>G (p.Gln390Arg)	OPTN (Q390R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12	GPathogenic
Select item 3244822	NC_000010.10:g.(?_13164365)_(13168059_?)dup	OPTN	Duplication	Primary open angle glaucoma +2 more	GLikely pathogenic
Select item 3244821	NC_000010.10:g.(?_13169725)_(13175601_?)del	OPTN	Deletion	Primary open angle glaucoma +2 more	GUncertain significance
Select item 3244820	NC_000010.10:g.(?_13164365)_(13164507_?)del	OPTN	Deletion	Primary open angle glaucoma +2 more	GPathogenic
Select item 3065837	NM_001008212.2(OPTN):c.1342A>G (p.Lys448Glu)	OPTN (K448E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12	GUncertain significance
Select item 2954260	NM_001008212.2(OPTN):c.762C>T (p.Leu254=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2953749	NM_001008212.2(OPTN):c.1132A>G (p.Lys378Glu)	OPTN (K378E)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2952011	NM_001008212.2(OPTN):c.368A>C (p.Glu123Ala)	LOC108903148, OPTN (E123A)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2951279	NM_001008212.2(OPTN):c.369+11C>T	LOC108903148, OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2951223	NM_001008212.2(OPTN):c.97G>C (p.Asp33His)	LOC108903148, OPTN (D33H)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2951203	NM_001008212.2(OPTN):c.953C>G (p.Thr318Arg)	OPTN (T318R)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2951152	NM_001008212.2(OPTN):c.804A>C (p.Thr268=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2949657	NM_001008212.2(OPTN):c.1298C>T (p.Ala433Val)	OPTN (A433V)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2947910	NM_001008212.2(OPTN):c.999-20G>A	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2947758	NM_001008212.2(OPTN):c.440T>A (p.Val147Glu)	OPTN (V147E)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2946962	NM_001008212.2(OPTN):c.1319A>G (p.Lys440Arg)	OPTN (K440R)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2946379	NM_001008212.2(OPTN):c.2T>A (p.Met1Lys)	LOC108903148, OPTN (M1K)	Single nucleotide variant (missense variant +1 more)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2945970	NM_001008212.2(OPTN):c.352T>C (p.Ser118Pro)	LOC108903148, OPTN (S118P)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2943879	NM_001008212.2(OPTN):c.589C>A (p.His197Asn)	OPTN (H197N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2943792	NM_001008212.2(OPTN):c.412C>A (p.Gln138Lys)	OPTN (Q138K)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2943137	NM_001008212.2(OPTN):c.1149-13T>A	OPTN	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely benign
Select item 2940980	NM_001008212.2(OPTN):c.419_420insTC (p.Lys140fs)	OPTN (K140fs)	Insertion (frameshift variant)	Primary open angle glaucoma +2 more	GPathogenic
Select item 2939203	NM_001008212.2(OPTN):c.616T>G (p.Ser206Ala)	OPTN (S206A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 2938104	NM_001008212.2(OPTN):c.882+20G>A	OPTN	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely benign
Select item 2938067	NM_001008212.2(OPTN):c.450dup (p.Gln151fs)	OPTN (Q151fs)	Duplication (frameshift variant)	Amyotrophic lateral sclerosis type 12 +2 more	GPathogenic
Select item 2938038	NM_001008212.2(OPTN):c.553-6_553-5delinsGT	OPTN	Indel (intron variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 2936645	NM_001008212.2(OPTN):c.1103del (p.Met368fs)	OPTN (M368fs)	Deletion (frameshift variant)	Primary open angle glaucoma +2 more	GPathogenic
Select item 2936235	NM_001008212.2(OPTN):c.1456C>T (p.His486Tyr)	OPTN (H486Y)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2934325	NM_001008212.2(OPTN):c.1022A>T (p.Asn341Ile)	OPTN (N341I)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2934214	NM_001008212.2(OPTN):c.94C>T (p.Leu32=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2933816	NM_001008212.2(OPTN):c.779G>A (p.Arg260Lys)	OPTN (R260K)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2932676	NM_001008212.2(OPTN):c.101C>T (p.Thr34Met)	LOC108903148, OPTN (T34M)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2932094	NM_001008212.2(OPTN):c.1402-7C>T	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GBenign
Select item 2931742	NM_001008212.2(OPTN):c.582A>G (p.Glu194=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2931134	NM_001008212.2(OPTN):c.1670A>G (p.Lys557Arg)	OPTN (K557R)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2931123	NM_001008212.2(OPTN):c.523del (p.Glu175fs)	OPTN (E175fs)	Deletion (frameshift variant)	Primary open angle glaucoma +2 more	GPathogenic
Select item 2929988	NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter)	LOC108903148, OPTN (E81*)	Single nucleotide variant (nonsense)	Primary open angle glaucoma +2 more	GPathogenic
Select item 2928942	NM_001008212.2(OPTN):c.1318_1334dup (p.Asp445fs)	OPTN (D445fs)	Duplication (frameshift variant)	Primary open angle glaucoma +2 more	GPathogenic
Select item 2928128	NM_001008212.2(OPTN):c.626+18C>T	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2926753	NM_001008212.2(OPTN):c.1558dup (p.Arg520fs)	OPTN (R520fs)	Duplication (frameshift variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2926609	NM_001008212.2(OPTN):c.1612+17C>T	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2926369	NM_001008212.2(OPTN):c.729G>T (p.Gly243=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2926100	NM_001008212.2(OPTN):c.1509T>G (p.Asn503Lys)	OPTN (N503K)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2925458	NM_001008212.2(OPTN):c.7C>T (p.His3Tyr)	LOC108903148, OPTN (H3Y)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2925011	NM_001008212.2(OPTN):c.627-16C>T	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2924890	NM_001008212.2(OPTN):c.675C>T (p.Tyr225=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2924880	NM_001008212.2(OPTN):c.1088T>C (p.Leu363Pro)	OPTN (L363P)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2924818	NM_001008212.2(OPTN):c.1670A>C (p.Lys557Thr)	OPTN (K557T)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2923672	NM_001008212.2(OPTN):c.598G>A (p.Gly200Arg)	OPTN (G200R)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2923316	NM_001008212.2(OPTN):c.1386C>T (p.Thr462=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2923052	NM_001008212.2(OPTN):c.883-10C>T	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2922861	NM_001008212.2(OPTN):c.1724G>A (p.Cys575Tyr)	OPTN (C575Y)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2921968	NM_001008212.2(OPTN):c.1558C>T (p.Arg520Cys)	OPTN (R520C)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2921635	NM_001008212.2(OPTN):c.635C>A (p.Ser212Tyr)	OPTN (S212Y)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2640308	NM_001008212.2(OPTN):c.1320A>G (p.Lys440=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +3 more	GLikely benign
Select item 2640305	NM_001008212.2(OPTN):c.377C>A (p.Thr126Asn)	OPTN (T126N)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +3 more	GUncertain significance
Select item 2545293	NM_001008212.2(OPTN):c.1250A>C (p.Lys417Thr)	OPTN (K417T)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +3 more	GUncertain significance
Select item 2426704	NC_000010.10:g.(?_13152353)_(13162081_?)del	OPTN	Deletion	Amyotrophic lateral sclerosis type 12 +2 more	GLikely pathogenic
Select item 2426703	NC_000010.10:g.(?_13158247)_(13169923_?)dup	OPTN	Duplication	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 2426702	NC_000010.10:g.(?_13160868)_(13161060_?)dup	OPTN	Duplication	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 2426701	NC_000010.10:g.(?_13164365)_(13168059_?)del	OPTN	Deletion	Amyotrophic lateral sclerosis type 12 +2 more	GPathogenic
Select item 2426700	NC_000010.10:g.(?_13154433)_(13161060_?)del	OPTN	Deletion	Amyotrophic lateral sclerosis type 12 +2 more	GPathogenic
Select item 2426699	NC_000010.10:g.(?_13151123)_(13158360_?)del	OPTN	Deletion	Amyotrophic lateral sclerosis type 12 +2 more	GPathogenic
Select item 2421485	NM_001008212.2(OPTN):c.16C>T (p.Leu6Phe)	LOC108903148, OPTN (L6F)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2198963	NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter)	OPTN (Q518*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 12 +2 more	GPathogenic
Select item 2197834	NM_001008212.2(OPTN):c.213G>A (p.Glu71=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely benign
Select item 2192160	NM_001008212.2(OPTN):c.1653G>T (p.Pro551=)	OPTN	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely benign
Select item 2181776	NM_001008212.2(OPTN):c.1468G>A (p.Glu490Lys)	OPTN (E490K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 2181657	NM_001008212.2(OPTN):c.463G>T (p.Ala155Ser)	OPTN (A155S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2175558	NM_001008212.2(OPTN):c.1612+17C>A	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2173403	NM_001008212.2(OPTN):c.156C>T (p.His52=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E +2 more	GLikely benign
Select item 2164902	NM_001008212.2(OPTN):c.1714G>A (p.Val572Met)	OPTN (V572M)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E +2 more	GUncertain significance
Select item 2163025	NM_001008212.2(OPTN):c.1401+9C>T	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2161582	NM_001008212.2(OPTN):c.1402-11del	OPTN	Deletion (intron variant)	Primary open angle glaucoma +2 more	GBenign
Select item 2158305	NM_001008212.2(OPTN):c.200G>A (p.Gly67Glu)	LOC108903148, OPTN (G67E)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2152079	NM_001008212.2(OPTN):c.701G>A (p.Ser234Asn)	OPTN (S234N)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2150925	NM_001008212.2(OPTN):c.1722T>C (p.Asp574=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2150488	NM_001008212.2(OPTN):c.50G>A (p.Ser17Asn)	LOC108903148, OPTN (S17N)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2141236	NM_001008212.2(OPTN):c.780-3C>T	OPTN	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 2136845	NM_001008212.2(OPTN):c.1352T>C (p.Ile451Thr)	OPTN (I451T)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +3 more	GUncertain significance
Select item 2136844	NM_001008212.2(OPTN):c.309G>C (p.Glu103Asp)	LOC108903148, OPTN (E103D)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2133437	NM_001008212.2(OPTN):c.882+2_882+3del	OPTN	Microsatellite (splice donor variant)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely pathogenic
Select item 2126803	NM_001008212.2(OPTN):c.649A>T (p.Arg217Ter)	OPTN (R217*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 12 +2 more	GPathogenic
Select item 2119145	NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)	OPTN (H400Y)	Inversion (missense variant)	Glaucoma 1, open angle, E +2 more	GUncertain significance
Select item 2113415	NM_001008212.2(OPTN):c.536T>A (p.Val179Asp)	OPTN (V179D)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2094301	NM_001008212.2(OPTN):c.1704A>C (p.Leu568Phe)	OPTN (L568F)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2090693	NM_001008212.2(OPTN):c.666del (p.Lys223fs)	OPTN (K223fs)	Deletion (frameshift variant)	Amyotrophic lateral sclerosis type 12 +2 more	GPathogenic
Select item 2090021	NM_001008212.2(OPTN):c.1333G>C (p.Asp445His)	OPTN (D445H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 2087154	NM_001008212.2(OPTN):c.626+17T>A	OPTN	Single nucleotide variant (intron variant)	Glaucoma 1, open angle, E +2 more	GLikely benign
Select item 2086175	NM_001008212.2(OPTN):c.369+2T>C	LOC108903148, OPTN	Single nucleotide variant (splice donor variant)	Primary open angle glaucoma +2 more	GLikely pathogenic
Select item 2083328	NM_001008212.2(OPTN):c.369+12G>A	LOC108903148, OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2079402	NM_001008212.2(OPTN):c.759A>C (p.Ala253=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2078827	NM_001008212.2(OPTN):c.194T>C (p.Met65Thr)	LOC108903148, OPTN (M65T)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E +2 more	GUncertain significance
Select item 2072787	NM_001008212.2(OPTN):c.110C>T (p.Pro37Leu)	LOC108903148, OPTN (P37L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 2071378	NM_001008212.2(OPTN):c.1556G>A (p.Ser519Asn)	OPTN (S519N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 2065515	NM_001008212.2(OPTN):c.1128G>A (p.Gln376=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2061725	NM_001008212.2(OPTN):c.369+11C>G	LOC108903148, OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2061646	NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)	OPTN, LOC108903148 (Q79*)	Single nucleotide variant (nonsense)	Primary open angle glaucoma +2 more	GPathogenic
Select item 2059659	NM_001008212.2(OPTN):c.999-16T>C	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2053883	NM_001008212.2(OPTN):c.1269G>A (p.Leu423=)	OPTN	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely benign

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