OPTN[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256880	NM_001008212.2(OPTN):c.370-14C>G	OPTN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1597380	NM_001008212.2(OPTN):c.370-13T>C	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 1478014	NM_001008212.2(OPTN):c.370-1G>A	OPTN	Single nucleotide variant (splice acceptor variant)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely pathogenic
Select item 3348994	NM_001008212.2(OPTN):c.371_376delinsCTTCC (p.Asp124fs)	OPTN (D124fs)	Indel (frameshift variant)	OPTN-related disorder	GLikely pathogenic
Select item 2682916	NM_001008212.2(OPTN):c.375del (p.Thr126fs)	OPTN (T126fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3204442	NM_001008212.2(OPTN):c.373C>G (p.Pro125Ala)	OPTN (P125A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 647662	NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)	OPTN (D128fs)	Insertion (frameshift variant)	not provided +3 more	GPathogenic
Select item 2473605	NM_001008212.2(OPTN):c.385T>G (p.Ser129Ala)	OPTN (S129A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1504182	NM_001008212.2(OPTN):c.385T>C (p.Ser129Pro)	OPTN (S129P)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 1735982	NM_001008212.2(OPTN):c.389G>A (p.Arg130Lys)	OPTN (R130K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1488742	NM_001008212.2(OPTN):c.398G>C (p.Arg133Thr)	OPTN (R133T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 878706	NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys)	OPTN (R133K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +1 more	GUncertain significance
Select item 3029849	NM_001008212.2(OPTN):c.402C>T (p.Ala134=)	OPTN	Single nucleotide variant (synonymous variant)	OPTN-related disorder	GLikely benign
Select item 299210	NM_001008212.2(OPTN):c.402C>A (p.Ala134=)	OPTN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 651429	NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys)	OPTN (E135K)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +3 more	GUncertain significance
Select item 631627	NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)	OPTN (E135*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 12 +2 more	GConflicting classifications of pathogenicity
Select item 1438247	NM_001008212.2(OPTN):c.404A>C (p.Glu135Ala)	OPTN (E135A)	Single nucleotide variant (missense variant)	OPTN-related disorder +4 more	GUncertain significance
Select item 1303264	NM_001008212.2(OPTN):c.407C>T (p.Ala136Val)	OPTN (A136V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1976333	NM_001008212.2(OPTN):c.408G>A (p.Ala136=)	OPTN	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 2940980	NM_001008212.2(OPTN):c.419_420insTC (p.Lys140fs)	OPTN (K140fs)	Insertion (frameshift variant)	Primary open angle glaucoma +2 more	GPathogenic
Select item 3349059	NM_001008212.2(OPTN):c.423C>G (p.Asp141Glu)	OPTN (D141E)	Single nucleotide variant (missense variant)	OPTN-related disorder	GUncertain significance
Select item 299211	NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro)	OPTN (Q142P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 3348526	NM_001008212.2(OPTN):c.430A>G (p.Arg144Gly)	OPTN (R144G)	Single nucleotide variant (missense variant)	OPTN-related disorder	GUncertain significance
Select item 1903617	NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala)	OPTN (T145A)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 1551358	NM_001008212.2(OPTN):c.435C>T (p.Thr145=)	OPTN	Single nucleotide variant (synonymous 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 1740393	NM_001008212.2(OPTN):c.440T>C (p.Val147Ala)	OPTN (V147A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 299212	NM_001008212.2(OPTN):c.441G>A (p.Val147=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299213	NM_001008212.2(OPTN):c.444G>A (p.Val148=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +3 more	GConflicting classifications of pathogenicity
Select item 1343322	NM_001008212.2(OPTN):c.447G>T (p.Arg149Ser)	OPTN (R149S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 299214	NM_001008212.2(OPTN):c.447G>A (p.Arg149=)	OPTN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1539628	NM_001008212.2(OPTN):c.448C>T (p.Leu150=)	OPTN	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E +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 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 1569981	NM_001008212.2(OPTN):c.480C>T (p.Ile160=)	OPTN	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely benign
Select item 1428247	NM_001008212.2(OPTN):c.481G>A (p.Val161Met)	OPTN (V161M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 1423675	NM_001008212.2(OPTN):c.489A>T (p.Glu163Asp)	OPTN (E163D)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E +2 more	GUncertain significance
Select item 256881	NM_001008212.2(OPTN):c.489A>G (p.Glu163=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +4 more	GConflicting classifications of pathogenicity
Select item 1934635	NM_001008212.2(OPTN):c.490C>T (p.Leu164=)	OPTN	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1801690	NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)	OPTN (Q165*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 12 +3 more	GPathogenic/Likely pathogenic
Select item 1543842	NM_001008212.2(OPTN):c.513C>T (p.Ser171=)	OPTN	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E +2 more	GLikely benign
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 1604833	NM_001008212.2(OPTN):c.528T>C (p.Asp176=)	OPTN	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E +2 more	GLikely benign
Select item 3054183	NM_001008212.2(OPTN):c.536T>C (p.Val179Ala)	OPTN (V179A)	Single nucleotide variant (missense variant)	OPTN-related disorder	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 2682232	NM_001008212.2(OPTN):c.552+2T>G	OPTN	Single nucleotide variant (splice donor variant)	OPTN-related disorder	GLikely pathogenic
Select item 1561014	NM_001008212.2(OPTN):c.552+11G>C	OPTN	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely benign
Select item 2037231	NM_001008212.2(OPTN):c.553-17C>T	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2044807	NM_001008212.2(OPTN):c.553-12C>T	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 256882	NM_001008212.2(OPTN):c.553-10G>A	OPTN	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 3036092	NM_001008212.2(OPTN):c.553-6T>G	OPTN	Single nucleotide variant (intron variant)	OPTN-related disorder	GLikely benign
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 197846	NM_001008212.2(OPTN):c.553-5C>T	OPTN	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 3028946	NM_001008212.2(OPTN):c.553-4A>T	OPTN	Single nucleotide variant (intron variant)	OPTN-related disorder	GUncertain significance
Select item 1310249	NM_001008212.2(OPTN):c.557_559del (p.Gly186del)	OPTN (G186del)	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 988573	NM_001008212.2(OPTN):c.565G>T (p.Glu189Ter)	OPTN (E189*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3029085	NM_001008212.2(OPTN):c.570G>T (p.Gly190=)	OPTN	Single nucleotide variant (synonymous variant)	OPTN-related disorder	GLikely benign
Select item 299215	NM_001008212.2(OPTN):c.573A>G (p.Ser191=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +1 more	GConflicting classifications of pathogenicity
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 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 1972747	NM_001008212.2(OPTN):c.591T>G (p.His197Gln)	OPTN (H197Q)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 719734	NM_001008212.2(OPTN):c.597T>C (p.Pro199=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
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 3204443	NM_001008212.2(OPTN):c.605C>A (p.Thr202Lys)	OPTN (T202K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 861585	NM_001008212.2(OPTN):c.605C>T (p.Thr202Met)	OPTN (T202M)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 1205565	NM_001008212.2(OPTN):c.606G>A (p.Thr202=)	OPTN	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2631884	NM_001008212.2(OPTN):c.608G>C (p.Arg203Thr)	OPTN (R203T)	Single nucleotide variant (missense variant)	OPTN-related disorder	GUncertain significance
Select item 1406952	NM_001008212.2(OPTN):c.609A>T (p.Arg203Ser)	OPTN (R203S)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 707739	NM_001008212.2(OPTN):c.612A>G (p.Thr204=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
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 1418562	NM_001008212.2(OPTN):c.619A>G (p.Thr207Ala)	OPTN (T207A)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 3342005	NM_001008212.2(OPTN):c.623G>A (p.Gly208Asp)	OPTN (G208D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1752541	NM_001008212.2(OPTN):c.626C>T (p.Thr209Met)	OPTN (T209M)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E +3 more	GUncertain significance
Select item 632055	NM_001008212.2(OPTN):c.626+1G>A	OPTN	Single nucleotide variant (splice donor variant)	Glaucoma 1, open angle, E +4 more	GConflicting classifications of pathogenicity
Select item 848382	NM_001008212.2(OPTN):c.626+4T>C	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 1038831	NM_001008212.2(OPTN):c.626+5del	OPTN	Deletion (intron variant)	Inborn genetic diseases +3 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 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 256883	NM_001008212.2(OPTN):c.626+24G>A	OPTN	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1187709	NM_001008212.2(OPTN):c.627-234T>C	OPTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 299216	NM_001008212.2(OPTN):c.627-10T>C	OPTN	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 12 +4 more	GBenign/Likely benign
Select item 3356160	NM_001008212.2(OPTN):c.627-8C>T	OPTN	Single nucleotide variant (intron variant)	OPTN-related disorder	GLikely benign
Select item 586204	NM_001008212.2(OPTN):c.628G>A (p.Ala210Thr)	OPTN (A210T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1941702	NM_001008212.2(OPTN):c.633G>A (p.Leu211=)	OPTN	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E +2 more	GLikely benign
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 2045923	NM_001008212.2(OPTN):c.644G>A (p.Arg215Lys)	OPTN (R215K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
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 2090693	NM_001008212.2(OPTN):c.666del (p.Lys223fs)	OPTN (K223fs)	Deletion (frameshift variant)	Amyotrophic lateral sclerosis type 12 +2 more	GPathogenic
Select item 1754960	NM_001008212.2(OPTN):c.669G>T (p.Lys223Asn)	OPTN (K223N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 1408097	NM_001008212.2(OPTN):c.676T>C (p.Phe226Leu)	OPTN (F226L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 1012550	NM_001008212.2(OPTN):c.678C>T (p.Phe226=)	OPTN	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 12 +3 more	GLikely benign
Select item 2037855	NM_001008212.2(OPTN):c.679G>A (p.Glu227Lys)	OPTN (E227K)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 934500	NM_001008212.2(OPTN):c.682C>T (p.His228Tyr)	OPTN (H228Y)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 3364050	NM_001008212.2(OPTN):c.696T>C (p.Thr232=)	OPTN	Single nucleotide variant (synonymous variant)	not provided	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 2030520	NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)	OPTN (Q235*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity

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