C3150692[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 299200	NM_021980.4(OPTN):c.-232G>T	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299201	NM_021980.4(OPTN):c.-227G>T	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GBenign
Select item 877641	NM_021980.4(OPTN):c.-187G>T	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 12 +1 more	GUncertain significance
Select item 299202	NM_021980.4(OPTN):c.-161T>C	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GBenign
Select item 299203	NM_001008212.2(OPTN):c.-274C>A	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GBenign
Select item 299204	NM_001008212.2(OPTN):c.-272G>T	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299205	NM_001008212.2(OPTN):c.-255C>G	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GBenign
Select item 299206	NM_001008212.2(OPTN):c.-250C>A	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299207	NM_001008212.2(OPTN):c.-215G>A	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GBenign
Select item 879254	NM_001008212.2(OPTN):c.-184C>G	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 12 +1 more	GUncertain significance
Select item 879255	NM_001008212.2(OPTN):c.-172G>A	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 12 +1 more	GUncertain significance
Select item 299208	NM_001008212.2(OPTN):c.-164+13A>G	LOC130003370, OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +1 more	GBenign/Likely benign
Select item 880441	NM_001008212.2(OPTN):c.-9A>G	LOC108903148, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 880442	NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg)	LOC108903148, OPTN (L6R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +1 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 96023	NM_001008212.2(OPTN):c.123G>A (p.Leu41=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +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)	OPTN-related condition +3 more	GBenign/Likely benign
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 7099	NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)	LOC108903148, OPTN (M98K)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +5 more	GBenign/Likely benign
Select item 878705	NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys)	LOC108903148, OPTN (R120K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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 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 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 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 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 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 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 197846	NM_001008212.2(OPTN):c.553-5C>T	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +4 more	GBenign
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 632055	NM_001008212.2(OPTN):c.626+1G>A	OPTN	Single nucleotide variant (splice donor variant)	OPTN-Related Disorders +4 more	GConflicting classifications of pathogenicity
Select item 299216	NM_001008212.2(OPTN):c.627-10T>C	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +4 more	GBenign/Likely benign
Select item 877716	NM_001008212.2(OPTN):c.812G>A (p.Arg271His)	OPTN (R271H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 877717	NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)	OPTN (E289D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 299217	NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys)	OPTN (S321C)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299218	NM_001008212.2(OPTN):c.963C>T (p.Ser321=)	OPTN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 878758	NM_001008212.2(OPTN):c.1243-9C>A	OPTN	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 12 +1 more	GUncertain significance
Select item 299220	NM_001008212.2(OPTN):c.1427A>G (p.His476Arg)	OPTN (H476R)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 447910	NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val)	OPTN (A481V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 299222	NM_001008212.2(OPTN):c.1569G>A (p.Ala523=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +3 more	GConflicting classifications of pathogenicity
Select item 299223	NM_001008212.2(OPTN):c.1612+10G>A	OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +2 more	GBenign
Select item 879707	NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)	OPTN (R545W)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GConflicting classifications of pathogenicity
Select item 7098	NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)	OPTN (R545Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 299225	NM_001008212.2(OPTN):c.*218G>C	OPTN	Single nucleotide variant (3 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 877764	NM_001008212.2(OPTN):c.*222G>C	OPTN	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 12 +1 more	GUncertain significance
Select item 299226	NM_001008212.2(OPTN):c.*269C>T	OPTN	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 299227	NM_001008212.2(OPTN):c.*306G>A	OPTN	Single nucleotide variant (3 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 877765	NM_001008212.2(OPTN):c.*335C>T	OPTN	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 12 +1 more	GUncertain significance
Select item 299228	NM_001008212.2(OPTN):c.*386C>A	OPTN	Single nucleotide variant (3 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299229	NM_001008212.2(OPTN):c.*413G>A	OPTN	Single nucleotide variant (3 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299230	NM_001008212.2(OPTN):c.*461G>A	OPTN	Single nucleotide variant (3 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299231	NM_001008212.2(OPTN):c.*562T>G	OPTN	Single nucleotide variant (3 prime UTR variant)	Primary open angle glaucoma +1 more	GBenign/Likely benign
Select item 878794	NM_001008212.2(OPTN):c.*631A>G	OPTN	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 12 +1 more	GUncertain significance
Select item 299232	NM_001008212.2(OPTN):c.*938C>G	OPTN	Single nucleotide variant (3 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299233	NM_001008212.2(OPTN):c.*1042T>G	OPTN	Single nucleotide variant (3 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299234	NM_001008212.2(OPTN):c.*1063C>A	OPTN	Single nucleotide variant (3 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299235	NM_001008212.2(OPTN):c.*1089G>A	OPTN	Single nucleotide variant (3 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 879768	NM_001008212.2(OPTN):c.*1111A>C	OPTN	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 12 +1 more	GUncertain significance
Select item 299236	NM_001008212.2(OPTN):c.*1251C>G	OPTN	Single nucleotide variant (3 prime UTR variant)	Primary open angle glaucoma +1 more	GConflicting classifications of pathogenicity
Select item 299237	NM_001008212.2(OPTN):c.*1285T>C	OPTN	Single nucleotide variant (3 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299238	NM_001008212.2(OPTN):c.*1385T>C	OPTN	Single nucleotide variant (3 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance

ClinVar

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Items: 63