"GeneDx"[submitter] AND "TOP3A"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 60439	GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1	ALKBH5, ATPAF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 58694	GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3	ALKBH5, ATPAF2 +67 more	Copy number gain	See cases	GPathogenic
Select item 2479372	NM_004618.5(TOP3A):c.2669G>A (p.Gly890Asp)	TOP3A (G795D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2068315	NM_004618.5(TOP3A):c.2435C>T (p.Thr812Ile)	TOP3A (T812I +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1896788	NM_004618.5(TOP3A):c.2148AAAGTT[1] (p.716LK[1])	TOP3A	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1491065	NM_004618.5(TOP3A):c.1916C>T (p.Thr639Ile)	TOP3A (T639I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1707724	NM_004618.5(TOP3A):c.1280A>G (p.Gln427Arg)	TOP3A (Q332R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800823	NM_004618.5(TOP3A):c.1103A>G (p.Asn368Ser)	TOP3A (N273S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3363447	NM_004618.5(TOP3A):c.991-12C>G	TOP3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1707336	NM_004618.5(TOP3A):c.990+1G>T	TOP3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2580566	NM_004618.5(TOP3A):c.505C>T (p.Pro169Ser)	TOP3A (P169S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198080	NM_004618.5(TOP3A):c.460G>A (p.Glu154Lys)	TOP3A (E154K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1260890	NM_004618.5(TOP3A):c.391-10C>T	TOP3A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1434120	NM_004618.5(TOP3A):c.308G>A (p.Arg103Gln)	TOP3A (R103Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1307744	NM_004618.5(TOP3A):c.207G>T (p.Lys69Asn)	TOP3A (K69N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 253648	GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 253611	GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3	ADORA2B, AKAP10 +59 more	Copy number gain	See cases	GPathogenic
Select item 253426	GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1	EPN2, EVPLL +45 more	Copy number loss	See cases	GPathogenic

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Items: 22