Related gene-specific medical variations for Gene (Select 7155) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362095	NM_001330700.2(TOP2B):c.4588A>C (p.Ile1530Leu)	TOP2B (I1525L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361529	NM_001330700.2(TOP2B):c.577A>G (p.Ile193Val)	TOP2B (I188V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360380	NM_001330700.2(TOP2B):c.3161G>C (p.Arg1054Pro)	TOP2B (R1049P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359994	NM_001330700.2(TOP2B):c.1601T>G (p.Ile534Arg)	TOP2B (I529R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343081	NM_001330700.2(TOP2B):c.2T>C (p.Met1Thr)	LOC129936375, TOP2B (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3236592	NM_001330700.2(TOP2B):c.3230dup (p.Leu1077fs)	TOP2B (L1072fs +1 more)	Duplication (frameshift variant)	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	GUncertain significance
Select item 3068041	NM_001330700.2(TOP2B):c.1639G>C (p.Glu547Gln)	TOP2B (E542Q +1 more)	Single nucleotide variant (missense variant)	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	GUncertain significance
Select item 3065975	NM_001330700.2(TOP2B):c.4054G>A (p.Val1352Met)	TOP2B (V1347M +1 more)	Single nucleotide variant (missense variant)	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	GUncertain significance
Select item 3052784	NM_001330700.2(TOP2B):c.-9G>T	LOC129936375, TOP2B	Single nucleotide variant (5 prime UTR variant)	TOP2B-related disorder	GLikely benign
Select item 2862702	NM_001330700.2(TOP2B):c.69+19G>A	LOC129936375, TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778274	NM_001330700.2(TOP2B):c.69+18G>A	LOC129936375, TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730392	NM_001330700.2(TOP2B):c.69G>T (p.Val23=)	LOC129936375, TOP2B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2703774	NM_001330700.2(TOP2B):c.7A>G (p.Lys3Glu)	LOC129936375, TOP2B (K3E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442152	NM_001330700.2(TOP2B):c.3541_3543del (p.Pro1181del)	TOP2B (P1176del +1 more)	Deletion (inframe_deletion)	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	GUncertain significance
Select item 2170511	NM_001330700.2(TOP2B):c.27G>A (p.Ala9=)	LOC129936375, TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022019	NM_001330700.2(TOP2B):c.12G>A (p.Ser4=)	LOC129936375, TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003997	NM_001330700.2(TOP2B):c.69+11G>T	LOC129936375, TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974744	NM_001330700.2(TOP2B):c.33C>T (p.Ala11=)	LOC129936375, TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649046	NM_001330700.2(TOP2B):c.69+14C>A	LOC129936375, TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1580357	NM_001330700.2(TOP2B):c.42C>A (p.Gly14=)	LOC129936375, TOP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1566562	NM_001330700.2(TOP2B):c.55G>C (p.Ala19Pro)	LOC129936375, TOP2B (A19P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1566270	NM_001330700.2(TOP2B):c.69+17C>G	LOC129936375, TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551202	NM_001330700.2(TOP2B):c.69+20G>A	LOC129936375, TOP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1506959	NM_001330700.2(TOP2B):c.55G>A (p.Ala19Thr)	LOC129936375, TOP2B (A19T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397213	NM_001330700.2(TOP2B):c.40G>A (p.Gly14Ser)	LOC129936375, TOP2B (G14S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1364597	NM_001330700.2(TOP2B):c.41G>C (p.Gly14Ala)	LOC129936375, TOP2B (G14A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325549	NM_001330700.2(TOP2B):c.816A>T (p.Arg272Ser)	TOP2B (R267S +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1170628	NM_001330700.2(TOP2B):c.31G>A (p.Ala11Thr)	LOC129936375, TOP2B (A11T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 265791	NM_001330700.2(TOP2B):c.187C>T (p.His63Tyr)	TOP2B (H58Y +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic

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Links from Gene

Items: 29