"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976012	NM_130837.3(OPA1):c.902T>G (p.Leu301Ter)	OPA1 (L122* +9 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1804142	NM_130837.3(OPA1):c.1377+6T>A	OPA1	Single nucleotide variant (intron variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 975946	NM_130837.3(OPA1):c.1734dup (p.Gln579fs)	OPA1 (Q400fs +9 more)	Duplication (frameshift variant)	Autosomal dominant optic atrophy classic form	GPathogenic
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 916192	NM_130837.3(OPA1):c.1935+1G>C	OPA1	Single nucleotide variant (splice donor variant)	Autosomal dominant optic atrophy classic form +1 more	GPathogenic/Likely pathogenic
Select item 1691850	NM_130837.3(OPA1):c.2051C>G (p.Ser684Ter)	OPA1 (S505* +9 more)	Single nucleotide variant (nonsense)	Optic atrophy	GLikely pathogenic
Select item 2627600	NM_130837.3(OPA1):c.2778+1G>A	OPA1	Single nucleotide variant (splice donor variant)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 5082	NM_130837.3(OPA1):c.2873_2876del	OPA1	Deletion (splice acceptor variant)	Optic nerve dysplasia +8 more	GPathogenic/Likely pathogenic
Select item 2580342	GRCh37/hg19 3q29(chr3:193343827-194599635)x1	TMEM44, ATP13A3 +7 more	Copy number loss	Autosomal dominant optic atrophy classic form	GLikely pathogenic