ClinVar for MedGen (Select 66358) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242089	NM_130837.3(OPA1):c.267G>A (p.Trp89Ter)	OPA1 (W89*)	Single nucleotide variant (5 prime UTR variant +1 more)	Abortive cerebellar ataxia	GUncertain significance
Select item 3242088	NM_130837.3(OPA1):c.1476A>C (p.Gln492His)	OPA1 (Q313H +9 more)	Single nucleotide variant (missense variant)	Abortive cerebellar ataxia	GUncertain significance
Select item 2585301	NM_130837.3(OPA1):c.2937_2938del (p.Lys979fs)	OPA1 (K800fs +9 more)	Deletion (frameshift variant)	Abortive cerebellar ataxia	GLikely pathogenic
Select item 2003096	NM_130837.3(OPA1):c.2885_2983+8del	OPA1	Deletion (splice donor variant)	Abortive cerebellar ataxia +1 more	GPathogenic/Likely pathogenic
Select item 997638	NM_130837.3(OPA1):c.861C>G (p.Ile287Met)	OPA1 (I108M +9 more)	Single nucleotide variant (missense variant)	Abortive cerebellar ataxia	GUncertain significance
Select item 973235	NM_130837.3(OPA1):c.2287del (p.Ser763fs)	OPA1 (S584fs +9 more)	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 931270	NM_130837.3(OPA1):c.2924A>G (p.Asp975Gly)	OPA1 (D884G +9 more)	Single nucleotide variant (missense variant)	Abortive cerebellar ataxia	GLikely benign
Select item 930631	NM_130837.3(OPA1):c.1811C>T (p.Ser604Leu)	LOC126806913, OPA1 (S549L +9 more)	Single nucleotide variant (missense variant)	Abortive cerebellar ataxia	GUncertain significance
Select item 930477	NM_130837.3(OPA1):c.1626A>G (p.Glu542=)	OPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 930410	NM_130837.3(OPA1):c.2489G>A (p.Trp830Ter)	OPA1 (W651* +9 more)	Single nucleotide variant (nonsense)	Abortive cerebellar ataxia	GLikely pathogenic
Select item 502104	NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys)	OPA1 (Y82C)	Single nucleotide variant (5 prime UTR variant +1 more)	Abortive cerebellar ataxia +1 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)	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) +6 more	GUncertain significance
Select item 344482	NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)	OPA1, OPA1-AS1 (S200F +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 225123	NM_130837.3(OPA1):c.1870+1G>T	LOC126806913, OPA1	Single nucleotide variant (splice donor variant)	Abortive cerebellar ataxia	GPathogenic
Select item 225122	NM_130837.3(OPA1):c.1369G>A (p.Val457Met)	OPA1 (V402M +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225121	NM_130837.3(OPA1):c.2635C>T (p.Arg879Ter)	OPA1 (R824* +9 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 214916	NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)	OPA1	Deletion (inframe_deletion +1 more)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +12 more	GConflicting classifications of pathogenicity
Select item 95731	NM_130837.3(OPA1):c.1035+4T>C	OPA1	Single nucleotide variant (intron variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +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)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +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)	not provided +5 more	GBenign
Select item 95717	NM_130837.3(OPA1):c.2274T>C (p.Ala758=)	OPA1	Single nucleotide variant (synonymous variant)	Autosomal dominant optic atrophy classic form +5 more	GBenign
Select item 50866	NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	OPA1 (I437M +8 more)	Single nucleotide variant (missense variant)	Optic nerve hypoplasia +7 more	GConflicting classifications of pathogenicity
Select item 5082	NM_130837.3(OPA1):c.2873_2876del	OPA1	Deletion (splice acceptor variant)	OPA1-related disorder +8 more	GPathogenic/Likely pathogenic

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Items: 24