"OPTN-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447911	NM_001008212.2(OPTN):c.46C>G (p.Pro16Ala)	LOC108903148, OPTN (P16A)	Single nucleotide variant (missense variant)	OPTN-related disorder +5 more	GUncertain significance
Select item 1323386	NM_001008212.2(OPTN):c.76dup (p.His26fs)	LOC108903148, OPTN (H26fs)	Duplication (frameshift variant)	OPTN-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 3047574	NM_001008212.2(OPTN):c.111G>A (p.Pro37=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	OPTN-related disorder	GLikely benign
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 3060368	NM_001008212.2(OPTN):c.267G>A (p.Gln89=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	OPTN-related disorder	GLikely benign
Select item 647662	NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)	OPTN (D128fs)	Insertion (frameshift variant)	OPTN-related disorder +4 more	GPathogenic
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 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 299214	NM_001008212.2(OPTN):c.447G>A (p.Arg149=)	OPTN	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 12 +4 more	GBenign/Likely benign
Select item 1543842	NM_001008212.2(OPTN):c.513C>T (p.Ser171=)	OPTN	Single nucleotide variant (synonymous variant)	OPTN-related disorder +3 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 3036092	NM_001008212.2(OPTN):c.553-6T>G	OPTN	Single nucleotide variant (intron variant)	OPTN-related disorder	GLikely benign
Select item 3028946	NM_001008212.2(OPTN):c.553-4A>T	OPTN	Single nucleotide variant (intron variant)	OPTN-related disorder	GUncertain significance
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 719734	NM_001008212.2(OPTN):c.597T>C (p.Pro199=)	OPTN	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 12 +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 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 2630709	NM_001008212.2(OPTN):c.749T>C (p.Leu250Pro)	OPTN (L250P)	Single nucleotide variant (missense variant)	OPTN-related disorder	GUncertain significance
Select item 3058706	NM_001008212.2(OPTN):c.768G>A (p.Glu256=)	OPTN	Single nucleotide variant (synonymous variant)	OPTN-related disorder	GLikely benign
Select item 704501	NM_001008212.2(OPTN):c.779+10A>G	OPTN	Single nucleotide variant (intron variant)	OPTN-related disorder +3 more	GLikely benign
Select item 1611830	NM_001008212.2(OPTN):c.876G>A (p.Pro292=)	OPTN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 705676	NM_001008212.2(OPTN):c.909C>A (p.Asn303Lys)	OPTN (N303K)	Single nucleotide variant (missense variant)	OPTN-related disorder +4 more	GLikely benign
Select item 1775090	NM_001008212.2(OPTN):c.1003C>T (p.Gln335Ter)	OPTN (Q335*)	Single nucleotide variant (nonsense)	OPTN-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1150737	NM_001008212.2(OPTN):c.1107A>G (p.Leu369=)	OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +4 more	GLikely benign
Select item 2636905	NM_001008212.2(OPTN):c.1204_1210del (p.Asn401_Asn402insTer)	OPTN	Deletion (nonsense)	OPTN-related disorder	GLikely pathogenic
Select item 1335033	NM_001008212.2(OPTN):c.1525G>A (p.Gly509Arg)	OPTN (G509R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 703932	NM_001008212.2(OPTN):c.1559G>A (p.Arg520His)	OPTN (R520H)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +5 more	GConflicting classifications of pathogenicity
Select item 2634945	NM_001008212.2(OPTN):c.1568C>A (p.Ala523Glu)	OPTN (A523E)	Single nucleotide variant (missense variant)	OPTN-related disorder	GUncertain significance
Select item 1360254	NM_001008212.2(OPTN):c.1588C>A (p.Gln530Lys)	OPTN (Q530K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2628524	NM_001008212.2(OPTN):c.1597T>G (p.Tyr533Asp)	OPTN (Y533D)	Single nucleotide variant (missense variant)	OPTN-related disorder	GUncertain significance
Select item 1434520	NM_001008212.2(OPTN):c.1627_1628delinsCT (p.Asp543Leu)	OPTN (D543L)	Indel (missense variant)	Primary open angle glaucoma +3 more	GUncertain significance
Select item 7098	NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)	OPTN (R545Q)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity

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Items: 32