C0574084[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549882	NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer)	OPA3	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 557243	NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp)	OPA3	Single nucleotide variant (stop lost)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 553316	NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln)	OPA3	Single nucleotide variant (stop lost)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 549872	NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs)	OPA3 (E179fs)	Indel (frameshift variant)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 557228	NM_001017989.3(OPA3):c.444_448del (p.Leu149fs)	OPA3 (L149fs)	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 549864	NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter)	OPA3 (E150*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 549871	NM_001017989.3(OPA3):c.445del (p.Leu149fs)	OPA3 (L149fs)	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3 +2 more	GUncertain significance
Select item 557552	NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter)	OPA3 (Q146*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 549885	NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter)	OPA3 (Q141*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 549877	NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter)	OPA3 (Q139*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 552985	NM_001017989.3(OPA3):c.380del (p.Gly127fs)	OPA3 (G127fs)	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 555209	NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter)	OPA3 (R115*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 552615	NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter)	OPA3 (Q105*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 558222	NM_001017989.3(OPA3):c.268_270del (p.Phe90del)	OPA3 (F90del)	Deletion (inframe deletion)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 553246	NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter)	OPA3 (E86*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 549884	NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter)	OPA3 (E78*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 552346	NM_001017989.3(OPA3):c.221del (p.Gly74fs)	OPA3 (G74fs)	Deletion (frameshift variant)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 552302	NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter)	OPA3 (E73*)	Single nucleotide variant (nonsense)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 370448	NM_025136.4(OPA3):c.539A>G (p.Ter180Trp)	OPA3	Single nucleotide variant (stop lost +1 more)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
Select item 556177	NM_025136.4(OPA3):c.487C>T (p.Leu163Phe)	OPA3 (L163F)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GUncertain significance
Select item 558055	NM_025136.4(OPA3):c.470_478del (p.Gln157_Val159del)	OPA3	Deletion (intron variant +1 more)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 556964	NM_025136.4(OPA3):c.431del (p.Pro144fs)	OPA3 (P144fs)	Deletion (intron variant +1 more)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 557780	NM_025136.4(OPA3):c.419_424dup (p.Val140_Gln141dup)	OPA3	Duplication (intron variant +1 more)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 21710	NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)	OPA3 (Q139*)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
Select item 553042	NM_025136.4(OPA3):c.334del (p.Glu112fs)	OPA3 (E112fs)	Deletion (frameshift variant +1 more)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 552710	NM_025136.4(OPA3):c.331_333del (p.Lys111del)	OPA3 (K111del)	Deletion (inframe_deletion +1 more)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 557368	NM_025136.4(OPA3):c.248_251dup (p.Gly85fs)	OPA3 (G85fs)	Duplication (frameshift variant +1 more)	3-Methylglutaconic aciduria type 3	GUncertain significance
Select item 554806	NM_025136.4(OPA3):c.217dup (p.Glu73fs)	OPA3 (E73fs)	Duplication (frameshift variant +1 more)	3-Methylglutaconic aciduria type 3 +1 more	GConflicting classifications of pathogenicity
Select item 553096	NM_025136.4(OPA3):c.142+5G>C	OPA3	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 3 +1 more	GConflicting classifications of pathogenicity
Select item 552448	NM_025136.4(OPA3):c.142+1G>A	OPA3	Single nucleotide variant (splice donor variant)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
Select item 557484	NM_025136.4(OPA3):c.100dup (p.Ser34fs)	OPA3 (S34fs)	Duplication (frameshift variant)	3-Methylglutaconic aciduria type 3	GLikely pathogenic
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 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 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 329686	NM_025136.3(OPA3):c.-48_-41delCGCCCCGC	LOC130064709, OPA3	Deletion	Optic Atrophy, Dominant +1 more	GUncertain significance

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Items: 35