ClinVar for Gene (Select 7153) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3460121	NM_001067.4(TOP2A):c.646T>C (p.Cys216Arg)	TOP2A (C216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460120	NM_001067.4(TOP2A):c.2204A>G (p.Lys735Arg)	TOP2A (K735R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460119	NM_001067.4(TOP2A):c.4495C>T (p.His1499Tyr)	TOP2A (H1499Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460117	NM_001067.4(TOP2A):c.4150G>A (p.Val1384Ile)	TOP2A (V1384I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460116	NM_001067.4(TOP2A):c.539A>T (p.Glu180Val)	TOP2A (E180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460115	NM_001067.4(TOP2A):c.2134G>A (p.Glu712Lys)	TOP2A (E712K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460114	NM_001067.4(TOP2A):c.4489G>A (p.Asp1497Asn)	TOP2A (D1497N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460113	NM_001067.4(TOP2A):c.1285G>A (p.Ala429Thr)	TOP2A (A429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460112	NM_001067.4(TOP2A):c.3325G>A (p.Glu1109Lys)	TOP2A (E1109K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460111	NM_001067.4(TOP2A):c.3643C>T (p.Arg1215Cys)	TOP2A (R1215C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3460110	NM_001067.4(TOP2A):c.3646G>T (p.Gly1216Cys)	TOP2A (G1216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460109	NM_001067.4(TOP2A):c.2530A>G (p.Ile844Val)	TOP2A (I844V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460107	NM_001067.4(TOP2A):c.104A>G (p.Gln35Arg)	TOP2A (Q35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328055	NM_001067.4(TOP2A):c.1615A>G (p.Met539Val)	TOP2A (M539V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328054	NM_001067.4(TOP2A):c.2980A>T (p.Ser994Cys)	TOP2A (S994C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328053	NM_001067.4(TOP2A):c.3089A>G (p.Tyr1030Cys)	TOP2A (Y1030C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328052	NM_001067.4(TOP2A):c.3823A>G (p.Lys1275Glu)	TOP2A (K1275E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328051	NM_001067.4(TOP2A):c.4324A>G (p.Lys1442Glu)	TOP2A (K1442E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328050	NM_001067.4(TOP2A):c.4557A>G (p.Ile1519Met)	TOP2A (I1519M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328049	NM_001067.4(TOP2A):c.301A>G (p.Lys101Glu)	TOP2A (K101E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328048	NM_001067.4(TOP2A):c.550A>G (p.Arg184Gly)	TOP2A (R184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3181192	NM_001067.4(TOP2A):c.601G>C (p.Ala201Pro)	TOP2A (A201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181191	NM_001067.4(TOP2A):c.4540C>T (p.Arg1514Trp)	TOP2A (R1514W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181190	NM_001067.4(TOP2A):c.4291G>A (p.Gly1431Ser)	TOP2A (G1431S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181189	NM_001067.4(TOP2A):c.4126G>A (p.Val1376Met)	TOP2A (V1376M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181188	NM_001067.4(TOP2A):c.4008C>A (p.Phe1336Leu)	TOP2A (F1336L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181187	NM_001067.4(TOP2A):c.3991G>T (p.Asp1331Tyr)	TOP2A (D1331Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181186	NM_001067.4(TOP2A):c.3971C>G (p.Thr1324Arg)	TOP2A (T1324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181185	NM_001067.4(TOP2A):c.3923T>C (p.Phe1308Ser)	TOP2A (F1308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181184	NM_001067.4(TOP2A):c.3913G>A (p.Glu1305Lys)	TOP2A (E1305K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181183	NM_001067.4(TOP2A):c.3779A>G (p.Gln1260Arg)	TOP2A (Q1260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181182	NM_001067.4(TOP2A):c.3691G>T (p.Ala1231Ser)	TOP2A (A1231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181180	NM_001067.4(TOP2A):c.2863A>G (p.Thr955Ala)	TOP2A (T955A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181179	NM_001067.4(TOP2A):c.2860A>C (p.Ile954Leu)	TOP2A (I954L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181178	NM_001067.4(TOP2A):c.2378G>A (p.Arg793Lys)	TOP2A (R793K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181177	NM_001067.4(TOP2A):c.164A>G (p.Glu55Gly)	TOP2A (E55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181176	NM_001067.4(TOP2A):c.1292A>G (p.Lys431Arg)	TOP2A (K431R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058908	NM_001067.4(TOP2A):c.4410T>G (p.Thr1470=)	TOP2A	Single nucleotide variant (synonymous variant)	TOP2A-related disorder	GBenign
Select item 3053597	NM_001067.4(TOP2A):c.366A>G (p.Gly122=)	TOP2A	Single nucleotide variant (synonymous variant)	TOP2A-related disorder	GLikely benign
Select item 3052304	NM_001067.4(TOP2A):c.3372C>T (p.Thr1124=)	TOP2A	Single nucleotide variant (synonymous variant)	TOP2A-related disorder	GLikely benign
Select item 2684849	GRCh37/hg19 17q21.1-21.2(chr17:38390996-38689619)x3	CDC6, GJD3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2647739	NM_001067.4(TOP2A):c.690C>G (p.Ser230Arg)	TOP2A (S230R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647738	NM_001067.4(TOP2A):c.3589G>C (p.Gly1197Arg)	TOP2A (G1197R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647737	NM_001067.4(TOP2A):c.4212A>G (p.Glu1404=)	TOP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621396	NM_001067.4(TOP2A):c.2051A>G (p.Tyr684Cys)	TOP2A (Y684C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553160	NM_001067.4(TOP2A):c.2329G>T (p.Gly777Cys)	TOP2A (G777C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538406	NM_001067.4(TOP2A):c.870T>G (p.His290Gln)	TOP2A (H290Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532448	NM_001067.4(TOP2A):c.1078A>G (p.Met360Val)	TOP2A (M360V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521792	NM_001067.4(TOP2A):c.3470C>T (p.Thr1157Ile)	TOP2A (T1157I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517067	NM_001067.4(TOP2A):c.4291G>T (p.Gly1431Cys)	TOP2A (G1431C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508622	NM_001067.4(TOP2A):c.4264A>C (p.Lys1422Gln)	TOP2A (K1422Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473316	NM_001067.4(TOP2A):c.3592G>A (p.Gly1198Arg)	TOP2A (G1198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473137	NM_001067.4(TOP2A):c.2741C>T (p.Ala914Val)	TOP2A (A914V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459570	NM_001067.4(TOP2A):c.2347C>T (p.Leu783Phe)	TOP2A (L783F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407400	NM_001067.4(TOP2A):c.3494A>G (p.Asp1165Gly)	TOP2A (D1165G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401254	NM_001067.4(TOP2A):c.3328A>G (p.Lys1110Glu)	TOP2A (K1110E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390897	NM_001067.4(TOP2A):c.4010C>T (p.Ser1337Leu)	TOP2A (S1337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346101	NM_001067.4(TOP2A):c.182T>C (p.Met61Thr)	TOP2A (M61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343859	NM_001067.4(TOP2A):c.3598G>T (p.Ala1200Ser)	TOP2A (A1200S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326227	NM_001067.4(TOP2A):c.1805C>A (p.Thr602Asn)	TOP2A (T602N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323908	NM_001067.4(TOP2A):c.370G>T (p.Gly124Cys)	TOP2A (G124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300293	NM_001067.4(TOP2A):c.1345G>A (p.Gly449Ser)	TOP2A (G449S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2295952	NM_001067.4(TOP2A):c.2780C>T (p.Pro927Leu)	TOP2A (P927L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290462	NM_001067.4(TOP2A):c.4462A>G (p.Ser1488Gly)	TOP2A (S1488G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284842	NM_001067.4(TOP2A):c.3689A>G (p.Glu1230Gly)	TOP2A (E1230G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283794	NM_001067.4(TOP2A):c.494A>G (p.Tyr165Cys)	TOP2A (Y165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281352	NM_001067.4(TOP2A):c.4303A>G (p.Arg1435Gly)	TOP2A (R1435G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280298	NM_001067.4(TOP2A):c.4106T>C (p.Leu1369Pro)	TOP2A (L1369P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268216	NM_001067.4(TOP2A):c.3392T>C (p.Met1131Thr)	TOP2A (M1131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254908	NM_001067.4(TOP2A):c.4533A>C (p.Lys1511Asn)	TOP2A (K1511N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236291	NM_001067.4(TOP2A):c.3625G>A (p.Glu1209Lys)	TOP2A (E1209K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225012	NM_001067.4(TOP2A):c.2782G>A (p.Val928Ile)	TOP2A (V928I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214391	NM_001067.4(TOP2A):c.2908G>T (p.Val970Leu)	TOP2A (V970L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050381	NM_001067.4(TOP2A):c.2662A>G (p.Met888Val)	TOP2A (M888V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 794108	NM_001067.4(TOP2A):c.3276A>G (p.Glu1092=)	TOP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787646	NM_001067.4(TOP2A):c.2321A>T (p.Asn774Ile)	TOP2A (N774I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 783780	NM_001067.4(TOP2A):c.1713G>A (p.Glu571=)	TOP2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775383	NM_001067.4(TOP2A):c.3590G>A (p.Gly1197Glu)	TOP2A (G1197E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 774349	NM_001067.4(TOP2A):c.1170A>G (p.Ser390=)	TOP2A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 770447	NM_001067.4(TOP2A):c.3290T>C (p.Val1097Ala)	TOP2A (V1097A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768880	NM_001067.4(TOP2A):c.2928A>G (p.Lys976=)	TOP2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768879	NM_001067.4(TOP2A):c.4029T>G (p.Thr1343=)	TOP2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726507	NM_001067.4(TOP2A):c.1929T>G (p.Pro643=)	TOP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724368	NM_001067.4(TOP2A):c.3480A>C (p.Arg1160Ser)	TOP2A (R1160S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718242	NM_001067.4(TOP2A):c.2781C>T (p.Pro927=)	TOP2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717511	NM_001067.4(TOP2A):c.2678A>G (p.Lys893Arg)	TOP2A (K893R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 715785	NM_001067.4(TOP2A):c.4088+8T>C	TOP2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 715084	NM_001067.4(TOP2A):c.909G>A (p.Met303Ile)	TOP2A (M303I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714733	NM_001067.4(TOP2A):c.729A>G (p.Ala243=)	TOP2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714415	NM_001067.4(TOP2A):c.3590G>C (p.Gly1197Ala)	TOP2A (G1197A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 587550	NM_001067.4(TOP2A):c.3050A>T (p.Asp1017Val)	TOP2A (D1017V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 587549	NM_001067.4(TOP2A):c.1737+5G>A	TOP2A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 443255	GRCh37/hg19 17q21.2(chr17:38543535-38785943)x3	CCR7, IGFBP4 +3 more	Copy number gain	See cases	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 252516	NM_001067.4(TOP2A):c.3581C>G (p.Pro1194Arg)	TOP2A (P1194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207835	NM_001067.4(TOP2A):c.263T>C (p.Ile88Thr)	TOP2A (I88T)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic

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