LOC130064709[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	See cases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 58342	GRCh38/hg38 19q13.32(chr19:45481858-45710518)x1	EML2, EML2-AS1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 3239998	NM_025136.4(OPA3):c.82_84delinsT (p.Ile27_Lys28insTer)	LOC130064709, OPA3	Indel (nonsense)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
Select item 1934091	NM_025136.4(OPA3):c.81del (p.Lys28fs)	LOC130064709, OPA3 (K28fs)	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 1137418	NM_025136.4(OPA3):c.78T>C (p.Arg26=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 1023276	NM_025136.4(OPA3):c.77G>T (p.Arg26Leu)	LOC130064709, OPA3 (R26L)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 1537110	NM_025136.4(OPA3):c.75C>T (p.Asn25=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 1714394	NM_025136.4(OPA3):c.73A>G (p.Asn25Asp)	LOC130064709, OPA3 (N25D)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 1576343	NM_025136.4(OPA3):c.72C>T (p.Ala24=)	OPA3, LOC130064709	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 1092870	NM_025136.4(OPA3):c.66G>T (p.Pro22=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 555674	NM_025136.4(OPA3):c.61A>T (p.Lys21Ter)	LOC130064709, OPA3 (K21*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
Select item 1304229	NM_025136.4(OPA3):c.59G>A (p.Ser20Asn)	LOC130064709, OPA3 (S20N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 796160	NM_025136.4(OPA3):c.57C>T (p.Val19=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	Optic atrophy 3 +1 more	GLikely benign
Select item 585025	NM_025136.4(OPA3):c.55G>A (p.Val19Ile)	LOC130064709, OPA3 (V19I)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 620409	NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)	OPA3, LOC130064709 (Q18*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3 +2 more	GPathogenic/Likely pathogenic
Select item 2677424	NM_025136.4(OPA3):c.45del (p.Ile16fs)	OPA3, LOC130064709 (I16fs)	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
Select item 2142280	NM_025136.4(OPA3):c.45C>T (p.Gly15=)	OPA3, LOC130064709	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 812674	NM_025136.4(OPA3):c.43G>C (p.Gly15Arg)	LOC130064709, OPA3 (G15R)	Single nucleotide variant (missense variant)	Foveal hypoplasia	GUncertain significance
Select item 2421928	NM_025136.4(OPA3):c.40T>G (p.Leu14Val)	LOC130064709, OPA3 (L14V)	Single nucleotide variant (missense variant)	Optic atrophy 3 +1 more	GUncertain significance
Select item 1558662	NM_025136.4(OPA3):c.40T>C (p.Leu14=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 757675	NM_025136.4(OPA3):c.39C>T (p.Tyr13=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2197733	NM_025136.4(OPA3):c.34C>G (p.Leu12Val)	OPA3, LOC130064709 (L12V)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 1114462	NM_025136.4(OPA3):c.33G>A (p.Leu11=)	OPA3, LOC130064709	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 284628	NM_025136.4(OPA3):c.33G>T (p.Leu11=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +2 more	GConflicting classifications of pathogenicity
Select item 918005	NM_025136.4(OPA3):c.32T>A (p.Leu11Gln)	LOC130064709, OPA3 (L11Q)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3	GPathogenic
Select item 1722308	NM_025136.4(OPA3):c.30G>C (p.Lys10Asn)	LOC130064709, OPA3 (K10N)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 1670678	NM_025136.4(OPA3):c.30G>A (p.Lys10=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 430549	NM_025136.4(OPA3):c.30G>T (p.Lys10Asn)	LOC130064709, OPA3 (K10N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2937381	NM_025136.4(OPA3):c.27G>A (p.Ala9=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2053052	NM_025136.4(OPA3):c.25G>A (p.Ala9Thr)	LOC130064709, OPA3 (A9T)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 2182154	NM_025136.4(OPA3):c.24G>A (p.Met8Ile)	LOC130064709, OPA3 (M8I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2931858	NM_025136.4(OPA3):c.23T>C (p.Met8Thr)	LOC130064709, OPA3 (M8T)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 1176709	NM_025136.4(OPA3):c.22A>G (p.Met8Val)	LOC130064709, OPA3 (M8V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2943383	NM_025136.4(OPA3):c.21T>A (p.Pro7=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2949856	NM_025136.4(OPA3):c.18C>T (p.Phe6=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 1502579	NM_025136.4(OPA3):c.17T>C (p.Phe6Ser)	LOC130064709, OPA3 (F6S)	Single nucleotide variant (missense variant)	Optic atrophy 3 +1 more	GUncertain significance
Select item 2097973	NM_025136.4(OPA3):c.15G>A (p.Ala5=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 991181	NM_025136.4(OPA3):c.15G>C (p.Ala5=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 2928329	NM_025136.4(OPA3):c.12C>T (p.Gly4=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 556289	NM_025136.4(OPA3):c.2TGG[2] (p.Val3del)	LOC130064709, OPA3 (V3del)	Microsatellite (inframe_deletion +1 more)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 2946297	NM_025136.4(OPA3):c.7G>C (p.Val3Leu)	LOC130064709, OPA3 (V3L)	Single nucleotide variant (missense variant)	3-Methylglutaconic aciduria type 3 +2 more	GUncertain significance
Select item 1574211	NM_025136.4(OPA3):c.6G>C (p.Val2=)	OPA3, LOC130064709	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 1462625	NM_025136.4(OPA3):c.6G>A (p.Val2=)	LOC130064709, OPA3	Single nucleotide variant (synonymous variant)	3-Methylglutaconic aciduria type 3 +1 more	GLikely benign
Select item 1067581	NM_025136.4(OPA3):c.1A>G (p.Met1Val)	LOC130064709, OPA3 (M1V)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GLikely pathogenic
Select item 552269	NM_025136.4(OPA3):c.-7C>G	LOC130064709, OPA3	Single nucleotide variant (5 prime UTR variant)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 138572	NM_025136.4(OPA3):c.-38A>G	LOC130064709, OPA3	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 329686	NM_025136.3(OPA3):c.-48_-41delCGCCCCGC	LOC130064709, OPA3	Deletion	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 329687	NM_025136.3(OPA3):c.-75G>A	LOC130064709, OPA3	Single nucleotide variant	not provided +2 more	GBenign
Select item 329688	NM_025136.3(OPA3):c.-86G>A	LOC130064709, OPA3	Single nucleotide variant	Optic atrophy 3 +2 more	GBenign
Select item 329689	NM_025136.3(OPA3):c.-96A>G	LOC130064709, OPA3	Single nucleotide variant	Optic atrophy 3 +1 more	GUncertain significance

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Items: 52