"Ambry Genetics"[submitter] AND "OPA1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2230739	NM_130837.3(OPA1):c.32+24C>G	OPA1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2310697	NM_130837.3(OPA1):c.37G>A (p.Val13Ile)	OPA1 (V13I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 496871	NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)	OPA1 (P29A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1903811	NM_130837.3(OPA1):c.170C>T (p.Thr57Ile)	OPA1 (T57I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2547870	NM_130837.3(OPA1):c.212G>C (p.Arg71Pro)	OPA1 (R71P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 95721	NM_130837.3(OPA1):c.254G>A (p.Arg85His)	OPA1 (R85H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1415488	NM_130837.3(OPA1):c.674G>A (p.Arg225Lys)	OPA1, OPA1-AS1 (R189K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 198219	NM_130837.3(OPA1):c.800_801del (p.Lys267fs)	OPA1 (K194fs +8 more)	Deletion (frameshift variant)	Autosomal dominant optic atrophy classic form +3 more	GPathogenic
Select item 387062	NM_130837.3(OPA1):c.844-4G>A	OPA1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 50866	NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	OPA1 (I437M +8 more)	Single nucleotide variant (missense variant)	OPA1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 521289	NM_130837.3(OPA1):c.1499G>C (p.Arg500Pro)	OPA1 (R445P +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 2299938	NM_130837.3(OPA1):c.1519G>A (p.Val507Ile)	OPA1 (V434I +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1466949	NM_130837.3(OPA1):c.1608+5G>A	OPA1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 344486	NM_130837.3(OPA1):c.1737G>C (p.Gln579His)	OPA1 (Q579H +9 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2324672	NM_130837.3(OPA1):c.2019A>C (p.Glu673Asp)	OPA1 (E582D +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315122	NM_130837.3(OPA1):c.2071A>G (p.Ile691Val)	OPA1 (I600V +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1393346	NM_130837.3(OPA1):c.2227C>T (p.Pro743Ser)	OPA1 (P565S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 986077	NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del)	OPA1	Deletion (inframe_deletion)	not provided +3 more	GUncertain significance
Select item 2300593	NM_130837.3(OPA1):c.2273C>T (p.Ala758Val)	OPA1 (A667V +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1697016	NM_130837.3(OPA1):c.2303A>G (p.Lys768Arg)	OPA1 (K589R +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2474880	NM_130837.3(OPA1):c.2391T>G (p.Asp797Glu)	OPA1 (D618E +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 262316	NM_130837.3(OPA1):c.2441-4dup	OPA1	Duplication (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 899712	NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser)	OPA1 (N826S +9 more)	Single nucleotide variant (missense variant)	OPA1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1525348	NM_130837.3(OPA1):c.2647G>A (p.Val883Ile)	OPA1 (V829I +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 986061	NM_130837.3(OPA1):c.2661+1G>A	OPA1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic

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Items: 26