ClinVar for MedGen (Select 1648384) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065210	NM_004618.5(TOP3A):c.240G>C (p.Gln80His)	TOP3A (Q80H +1 more)	Single nucleotide variant (missense variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2	GUncertain significance
Select item 2442040	NM_004618.5(TOP3A):c.1712G>T (p.Gly571Val)	TOP3A (G476V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2	GUncertain significance
Select item 1805523	NM_004618.5(TOP3A):c.2228C>G (p.Thr743Ser)	TOP3A (T648S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1699252	NM_004618.5(TOP3A):c.2779G>T (p.Glu927Ter)	TOP3A (E832* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, growth restriction, and increased sister chromatid exchange 2	GUncertain significance
Select item 1573144	NM_004618.5(TOP3A):c.180+10C>G	TOP3A	Single nucleotide variant (intron variant)	TOP3A-related disorder +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 1050343	NM_004618.5(TOP3A):c.1643G>A (p.Arg548Gln)	TOP3A (R453Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2 +1 more	GUncertain significance
Select item 1028283	NM_004618.5(TOP3A):c.2056C>T (p.Arg686Cys)	TOP3A (R686C +1 more)	Single nucleotide variant (missense variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2 +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)	not provided +3 more	GBenign/Likely benign
Select item 560204	NM_004618.5(TOP3A):c.2428del (p.Ser810fs)	TOP3A (S715fs +1 more)	Deletion (frameshift variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2	GPathogenic
Select item 560203	NM_004618.5(TOP3A):c.2271dup (p.Arg758fs)	TOP3A (R758fs +1 more)	Duplication (frameshift variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2 +1 more	GPathogenic
Select item 560202	NM_004618.5(TOP3A):c.2718del (p.Thr907fs)	TOP3A (T812fs +1 more)	Deletion (frameshift variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2	GPathogenic