C0339573[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7949	NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)	MYOC (Q368*)	Single nucleotide variant (nonsense)	Glaucoma of childhood	GPathogenic FDA Recognized database
Select item 7744	NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)	CYP1B1 (Y81N)	Single nucleotide variant (missense variant)	Congenital glaucoma +5 more	GConflicting classifications of pathogenicity
Select item 262467	NM_139281.3(WDR36):c.-70C>G	WDR36, LOC129994346 (D33E)	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +2 more	GConflicting classifications of pathogenicity
Select item 350301	NM_139281.3(WDR36):c.163-7dup	WDR36	Duplication (intron variant)	WDR36-related condition +2 more	GBenign/Likely benign
Select item 350319	NM_139281.3(WDR36):c.1642A>G (p.Ile548Val)	WDR36 (I548V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 350322	NM_139281.3(WDR36):c.1717-11_1717-10del	WDR36	Deletion (intron variant)	Primary open angle glaucoma +1 more	GBenign
Select item 529764	NC_000010.11:g.(?_13109103)_(13136886_?)del	LOC108903148, LOC108903149 +2 more	Deletion	Primary open angle glaucoma +2 more	GPathogenic
Select item 583651	NC_000010.11:g.(?_13109123)_(13183100_?)del	LOC108903148, LOC108903149 +5 more	Deletion	Amyotrophic lateral sclerosis type 12 +2 more	GPathogenic
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 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 565324	NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg)	LOC108903148, OPTN (P5R)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E +2 more	GUncertain significance
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 2011696	NM_001008212.2(OPTN):c.38A>T (p.Glu13Val)	LOC108903148, OPTN (E13V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 447911	NM_001008212.2(OPTN):c.46C>G (p.Pro16Ala)	LOC108903148, OPTN (P16A)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +5 more	GUncertain significance
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 1323386	NM_001008212.2(OPTN):c.76dup (p.His26fs)	LOC108903148, OPTN (H26fs)	Duplication (frameshift variant)	Glaucoma 1, open angle, E +4 more	GPathogenic/Likely pathogenic
Select item 873264	NM_001008212.2(OPTN):c.76del (p.His26fs)	LOC108903148, OPTN (H26fs)	Deletion (frameshift variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1963117	NM_001008212.2(OPTN):c.76C>A (p.His26Asn)	LOC108903148, OPTN (H26N)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 1930237	NM_001008212.2(OPTN):c.76C>G (p.His26Asp)	LOC108903148, OPTN (H26D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 756457	NM_001008212.2(OPTN):c.78C>T (p.His26=)	OPTN, LOC108903148	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E +2 more	GLikely benign
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 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 2932676	NM_001008212.2(OPTN):c.101C>T (p.Thr34Met)	OPTN, LOC108903148 (T34M)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 96022	NM_001008212.2(OPTN):c.102G>A (p.Thr34=)	OPTN, LOC108903148	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +4 more	GBenign
Select item 2072787	NM_001008212.2(OPTN):c.110C>T (p.Pro37Leu)	LOC108903148, OPTN (P37L)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E +2 more	GUncertain significance
Select item 96023	NM_001008212.2(OPTN):c.123G>A (p.Leu41=)	OPTN, LOC108903148	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 489125	NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter)	LOC108903148, OPTN (Q43*)	Single nucleotide variant (nonsense)	OPTN-Related Disorders +4 more	GConflicting classifications of pathogenicity
Select item 703912	NM_001008212.2(OPTN):c.147C>T (p.Thr49=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +3 more	GBenign/Likely benign
Select item 2173403	NM_001008212.2(OPTN):c.156C>T (p.His52=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 576203	NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs)	LOC108903148, OPTN (K55fs)	Duplication (frameshift variant)	Amyotrophic lateral sclerosis type 12 +2 more	GPathogenic
Select item 1975626	NM_001008212.2(OPTN):c.161T>A (p.Leu54Gln)	LOC108903148, OPTN (L54Q)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 1165128	NM_001008212.2(OPTN):c.166+66A>G	OPTN, LOC108903148	Single nucleotide variant (intron variant)	Primary open angle glaucoma +3 more	GBenign
Select item 1477100	NM_001008212.2(OPTN):c.177G>C (p.Lys59Asn)	LOC108903148, OPTN (K59N)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E +3 more	GUncertain significance
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 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 2197834	NM_001008212.2(OPTN):c.213G>A (p.Glu71=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E +2 more	GLikely benign
Select item 1088779	NM_001008212.2(OPTN):c.219G>A (p.Ser73=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely benign
Select item 1718786	NM_001008212.2(OPTN):c.226A>G (p.Thr76Ala)	OPTN, LOC108903148 (T76A)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E +2 more	GUncertain significance
Select item 2061646	NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)	LOC108903148, OPTN (Q79*)	Single nucleotide variant (nonsense)	Glaucoma 1, open angle, E +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 299209	NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys)	LOC108903148, OPTN (R83C)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 1959773	NM_001008212.2(OPTN):c.254T>G (p.Phe85Cys)	LOC108903148, OPTN (F85C)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 788091	NM_001008212.2(OPTN):c.261G>A (p.Glu87=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E +2 more	GLikely benign
Select item 1196529	NM_001008212.2(OPTN):c.263T>C (p.Ile88Thr)	LOC108903148, OPTN (I88T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 523078	NM_001008212.2(OPTN):c.275A>T (p.Glu92Val)	LOC108903148, OPTN (E92V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 969108	NM_001008212.2(OPTN):c.287G>A (p.Arg96His)	LOC108903148, OPTN (R96H)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E +3 more	GUncertain significance
Select item 7099	NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)	LOC108903148, OPTN (M98K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +5 more	GBenign/Likely benign
Select item 1798158	NM_001008212.2(OPTN):c.295G>T (p.Ala99Ser)	LOC108903148, OPTN (A99S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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 1732969	NM_001008212.2(OPTN):c.358A>G (p.Arg120Gly)	LOC108903148, OPTN (R120G)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E +3 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 2086175	NM_001008212.2(OPTN):c.369+2T>C	LOC108903148, OPTN	Single nucleotide variant (splice donor variant)	Glaucoma 1, open angle, E +2 more	GLikely pathogenic
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 2061725	NM_001008212.2(OPTN):c.369+11C>G	LOC108903148, OPTN	Single nucleotide variant (intron variant)	Glaucoma 1, open angle, E +2 more	GLikely benign
Select item 2083328	NM_001008212.2(OPTN):c.369+12G>A	LOC108903148, OPTN	Single nucleotide variant (intron variant)	Glaucoma 1, open angle, E +2 more	GLikely benign
Select item 1165129	NM_001008212.2(OPTN):c.369+39T>G	LOC108903148, OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GBenign
Select item 1597380	NM_001008212.2(OPTN):c.370-13T>C	OPTN	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely benign
Select item 1478014	NM_001008212.2(OPTN):c.370-1G>A	OPTN	Single nucleotide variant (splice acceptor variant)	Glaucoma 1, open angle, E +2 more	GLikely pathogenic
Select item 2640305	NM_001008212.2(OPTN):c.377C>A (p.Thr126Asn)	OPTN (T126N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 647662	NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)	OPTN (D128fs)	Insertion (frameshift variant)	not provided +4 more	GPathogenic
Select item 1504182	NM_001008212.2(OPTN):c.385T>C (p.Ser129Pro)	OPTN (S129P)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E +2 more	GUncertain significance
Select item 1488742	NM_001008212.2(OPTN):c.398G>C (p.Arg133Thr)	OPTN (R133T)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E +2 more	GUncertain significance
Select item 299210	NM_001008212.2(OPTN):c.402C>A (p.Ala134=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +5 more	GBenign/Likely benign
Select item 651429	NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys)	OPTN (E135K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 631627	NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)	OPTN (E135*)	Single nucleotide variant (nonsense)	Primary open angle glaucoma +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)	Primary open angle glaucoma +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)	Primary open angle glaucoma +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 299211	NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro)	OPTN (Q142P)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +3 more	GUncertain significance
Select item 1903617	NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala)	OPTN (T145A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 1551358	NM_001008212.2(OPTN):c.435C>T (p.Thr145=)	OPTN	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 12 +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 299213	NM_001008212.2(OPTN):c.444G>A (p.Val148=)	OPTN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 299214	NM_001008212.2(OPTN):c.447G>A (p.Arg149=)	OPTN	Single nucleotide variant (synonymous variant)	OPTN-related condition +4 more	GBenign/Likely benign
Select item 1539628	NM_001008212.2(OPTN):c.448C>T (p.Leu150=)	OPTN	Single nucleotide variant (synonymous 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)	Primary open angle glaucoma +2 more	GPathogenic
Select item 2181657	NM_001008212.2(OPTN):c.463G>T (p.Ala155Ser)	OPTN (A155S)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E +2 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)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 1423675	NM_001008212.2(OPTN):c.489A>T (p.Glu163Asp)	OPTN (E163D)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 256881	NM_001008212.2(OPTN):c.489A>G (p.Glu163=)	OPTN	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E +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 10 +3 more	GPathogenic/Likely pathogenic
Select item 1543842	NM_001008212.2(OPTN):c.513C>T (p.Ser171=)	OPTN	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 12 +3 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)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely benign
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 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)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely benign
Select item 2044807	NM_001008212.2(OPTN):c.553-12C>T	OPTN	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely benign
Select item 256882	NM_001008212.2(OPTN):c.553-10G>A	OPTN	Single nucleotide variant (intron variant)	Glaucoma 1, open angle, E +4 more	GBenign
Select item 2938038	NM_001008212.2(OPTN):c.553-6_553-5delinsGT	OPTN	Indel (intron variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 197846	NM_001008212.2(OPTN):c.553-5C>T	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +4 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 2943879	NM_001008212.2(OPTN):c.589C>A (p.His197Asn)	OPTN (H197N)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
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)	OPTN-related condition +3 more	GLikely benign

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