ClinVar for MedGen (Select 1648331) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3028909	NM_004618.5(TOP3A):c.614A>G (p.Asp205Gly)	TOP3A (D205G +1 more)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	GPathogenic
Select item 1573144	NM_004618.5(TOP3A):c.180+10C>G	TOP3A	Single nucleotide variant (intron variant)	TOP3A-related condition +3 more	GBenign/Likely benign
Select item 1342251	NM_004618.5(TOP3A):c.916-49G>A	TOP3A	Single nucleotide variant (intron variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 +1 more	GBenign
Select item 1342250	NM_004618.5(TOP3A):c.1282-21G>A	TOP3A	Single nucleotide variant (intron variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2 +1 more	GBenign
Select item 1342249	NM_004618.5(TOP3A):c.1468-11G>T	TOP3A	Single nucleotide variant (intron variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2 +2 more	GBenign
Select item 1342248	NM_004618.5(TOP3A):c.1527C>T (p.Asp509=)	TOP3A	Single nucleotide variant (synonymous variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 +2 more	GBenign
Select item 1342247	NM_004618.5(TOP3A):c.2022-39C>A	TOP3A	Single nucleotide variant (intron variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 +1 more	GBenign
Select item 1260890	NM_004618.5(TOP3A):c.391-10C>T	TOP3A	Single nucleotide variant (intron variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2 +2 more	GBenign
Select item 1028284	NM_004618.5(TOP3A):c.241-13T>G	TOP3A	Single nucleotide variant (intron variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	GUncertain significance
Select item 1028282	NM_004618.5(TOP3A):c.1982G>A (p.Cys661Tyr)	TOP3A (C661Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 787133	NM_004618.5(TOP3A):c.315-4C>G	TOP3A	Single nucleotide variant (intron variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2 +2 more	GBenign
Select item 717059	NM_004618.5(TOP3A):c.2317A>G (p.Asn773Asp)	TOP3A (N678D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2 +3 more	GBenign/Likely benign
Select item 636248	NM_004618.5(TOP3A):c.1723A>G (p.Met575Val)	TOP3A (M575V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 636247	NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs)	TOP3A (Y205fs +1 more)	Deletion (frameshift variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	GLikely pathogenic
Select item 446286	NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter)	TOP3A (R135* +1 more)	Single nucleotide variant (nonsense)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 +1 more	GPathogenic
Select item 446285	NM_004618.5(TOP3A):c.298A>G (p.Met100Val)	TOP3A (M100V)	Single nucleotide variant (missense variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 +1 more	GPathogenic