ClinVar for MedGen (Select 478179) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377425	NM_130837.3(OPA1):c.1291A>G (p.Thr431Ala)	OPA1 (T252A +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GLikely pathogenic
Select item 3377423	NM_130837.3(OPA1):c.997T>G (p.Tyr333Asp)	OPA1 (Y154D +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GUncertain significance
Select item 3377088	NM_130837.3(OPA1):c.1525C>T (p.Gln509Ter)	OPA1 (Q330* +9 more)	Single nucleotide variant (nonsense)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GPathogenic
Select item 3377083	NM_130837.3(OPA1):c.1945_1948del (p.Phe649fs)	OPA1 (F470fs +9 more)	Deletion (frameshift variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GPathogenic
Select item 3377063	NM_130837.3(OPA1):c.1053T>A (p.Asp351Glu)	OPA1 (D172E +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GPathogenic
Select item 3376892	NM_130837.3(OPA1):c.1102_1103delinsGA (p.Ile368Glu)	OPA1 (I189E +9 more)	Indel (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GLikely pathogenic
Select item 3251969	NM_130837.3(OPA1):c.1149+1G>T	OPA1	Single nucleotide variant (splice donor variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more	GLikely pathogenic
Select item 3250177	NM_130837.3(OPA1):c.1478A>G (p.Asp493Gly)	OPA1 (D314G +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more	GLikely pathogenic
Select item 2775430	NM_130837.3(OPA1):c.1309dup (p.Ile437fs)	OPA1 (I383fs +9 more)	Duplication (frameshift variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more	GLikely pathogenic
Select item 1801519	NM_130837.3(OPA1):c.365G>A (p.Trp122Ter)	OPA1, OPA1-AS1 (W122*)	Single nucleotide variant (5 prime UTR variant +1 more)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GPathogenic
Select item 1503238	NM_130837.3(OPA1):c.2960G>A (p.Arg987His)	OPA1 (R808H +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1299326	NM_130837.3(OPA1):c.1846G>C (p.Glu616Gln)	LOC126806913, OPA1 (E437Q +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more	GUncertain significance
Select item 1185094	NM_130837.3(OPA1):c.970T>C (p.Ser324Pro)	OPA1 (S145P +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GLikely pathogenic
Select item 1185093	NM_130837.3(OPA1):c.1720G>A (p.Glu574Lys)	OPA1 (E395K +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GLikely pathogenic
Select item 1184586	NM_130837.3(OPA1):c.1728_1734del (p.Glu576fs)	OPA1 (E397fs +9 more)	Deletion (frameshift variant)	OPA1-related disorder +1 more	GLikely pathogenic
Select item 1184499	NM_130837.3(OPA1):c.3G>A (p.Met1Ile)	OPA1 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1174528	NM_130837.3(OPA1):c.1118C>G (p.Ser373Cys)	OPA1 (S194C +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GLikely pathogenic
Select item 982032	NM_130837.3(OPA1):c.267G>T (p.Trp89Cys)	OPA1 (W89C)	Single nucleotide variant (5 prime UTR variant +1 more)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GUncertain significance
Select item 973235	NM_130837.3(OPA1):c.2287del (p.Ser763fs)	OPA1 (S584fs +9 more)	Deletion (frameshift variant)	OPA1-related disorder +4 more	GPathogenic
Select item 692000	NM_130837.3(OPA1):c.556+1G>A	OPA1	Single nucleotide variant (splice donor variant +1 more)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GPathogenic
Select item 496969	NM_130837.3(OPA1):c.610+360G>A	OPA1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 436107	NM_130837.3(OPA1):c.344C>T (p.Ala115Val)	OPA1 (A115V)	Single nucleotide variant (5 prime UTR variant +1 more)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +2 more	GConflicting classifications of pathogenicity
Select item 432856	NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)	OPA1 (R818W +9 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 432381	NM_130837.3(OPA1):c.2429G>A (p.Arg810His)	OPA1 (R755H +9 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 427152	NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)	OPA1 (V933I +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +3 more	GConflicting classifications of pathogenicity
Select item 344482	NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)	OPA1, OPA1-AS1 (S200F +5 more)	Single nucleotide variant (missense variant)	Glaucoma, normal tension, susceptibility to +5 more	GConflicting classifications of pathogenicity
Select item 225120	NM_130837.3(OPA1):c.1817G>A (p.Cys606Tyr)	LOC126806913, OPA1 (C551Y +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GPathogenic
Select item 214922	NM_130837.3(OPA1):c.1193A>C (p.Asp398Ala)	OPA1 (D343A +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214916	NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)	OPA1	Deletion (inframe_deletion +1 more)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 202168	NM_130837.3(OPA1):c.1511del (p.Thr504fs)	OPA1 (T326fs +9 more)	Deletion (frameshift variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GLikely pathogenic
Select item 95733	NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)	OPA1 (K383R +8 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +2 more	GPathogenic
Select item 95731	NM_130837.3(OPA1):c.1035+4T>C	OPA1	Single nucleotide variant (intron variant)	Autosomal dominant optic atrophy classic form +5 more	GBenign
Select item 95726	NM_130837.3(OPA1):c.43C>A (p.Gln15Lys)	OPA1 (Q15K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +5 more	GBenign
Select item 95724	NM_130837.3(OPA1):c.321G>A (p.Ser107=)	OPA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant optic atrophy classic form +5 more	GBenign
Select item 95717	NM_130837.3(OPA1):c.2274T>C (p.Ala758=)	OPA1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 50866	NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	OPA1 (I437M +8 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form +7 more	GConflicting classifications of pathogenicity
Select item 30463	NM_130837.3(OPA1):c.2894T>A (p.Val965Asp)	OPA1 (V910D +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GPathogenic
Select item 30462	NM_130837.3(OPA1):c.1481G>T (p.Gly494Val)	OPA1 (G439V +9 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 30461	NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg)	LOC126806913, OPA1 (S545R +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form +1 more	GPathogenic
Select item 30460	NM_130837.3(OPA1):c.1459A>G (p.Ile487Val)	OPA1 (I432V +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 5092	NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs)	OPA1 (D827fs +9 more)	Deletion (frameshift variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more	GPathogenic
Select item 5091	NM_130837.3(OPA1):c.1499G>A (p.Arg500His)	OPA1 (R500H +8 more)	Single nucleotide variant (missense variant)	OPA1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 5090	NM_130837.3(OPA1):c.1910A>G (p.Tyr637Cys)	OPA1 (Y582C +9 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	GPathogenic
Select item 5084	NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)	OPA1 (R345Q +8 more)	Single nucleotide variant (missense variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +2 more	GPathogenic/Likely pathogenic
Select item 5082	NM_130837.3(OPA1):c.2873_2876del	OPA1	Deletion (splice acceptor variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +8 more	GPathogenic/Likely pathogenic

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Items: 45