ClinVar for MedGen (Select 903789) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687182	NM_130837.3(OPA1):c.2552AGA[1] (p.Lys852del)	OPA1 (K673del +9 more)	Microsatellite (inframe_deletion)	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	GUncertain significance
Select item 1184587	NM_130837.3(OPA1):c.4_5+2del	OPA1	Deletion (splice donor variant)	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	GLikely pathogenic
Select item 496871	NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)	OPA1 (P29A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) +3 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)	Abortive cerebellar ataxia +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 225124	NM_130837.3(OPA1):c.1766T>G (p.Leu589Arg)	LOC126806913, OPA1 (L534R +9 more)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	GPathogenic
Select item 95731	NM_130837.3(OPA1):c.1035+4T>C	OPA1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) +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)	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) +5 more	GBenign
Select item 95724	NM_130837.3(OPA1):c.321G>A (p.Ser107=)	OPA1	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) +5 more	GBenign
Select item 95717	NM_130837.3(OPA1):c.2274T>C (p.Ala758=)	OPA1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 95711	NM_130837.3(OPA1):c.1773A>C (p.Ala591=)	LOC126806913, OPA1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) +3 more	GBenign
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