TOPBP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 2271488	NM_007027.4(TOPBP1):c.4550A>G (p.Lys1517Arg)	TOPBP1 (K1517R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263351	NM_007027.4(TOPBP1):c.4542T>A (p.Asn1514Lys)	TOPBP1 (N1514K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263349	NM_007027.4(TOPBP1):c.4534G>C (p.Glu1512Gln)	TOPBP1 (E1507Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247968	NM_007027.4(TOPBP1):c.4499G>A (p.Gly1500Glu)	TOPBP1 (G1500E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296359	NM_007027.4(TOPBP1):c.4477A>T (p.Ile1493Phe)	TOPBP1 (I1493F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181278	NM_007027.4(TOPBP1):c.4460C>T (p.Pro1487Leu)	TOPBP1 (P1487L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486211	NM_007027.4(TOPBP1):c.4453T>C (p.Cys1485Arg)	TOPBP1 (C1480R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548298	NM_007027.4(TOPBP1):c.4400A>T (p.Glu1467Val)	TOPBP1 (E1462V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239491	NM_007027.4(TOPBP1):c.4397C>A (p.Thr1466Lys)	TOPBP1 (T1466K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614186	NM_007027.4(TOPBP1):c.4385A>G (p.Tyr1462Cys)	TOPBP1 (Y1457C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049364	NM_007027.4(TOPBP1):c.4372G>T (p.Ala1458Ser)	TOPBP1 (A1453S +1 more)	Single nucleotide variant (missense variant)	TOPBP1-related disorder	GBenign
Select item 3055863	NM_007027.4(TOPBP1):c.4347A>G (p.Ser1449=)	TOPBP1	Single nucleotide variant (synonymous variant)	TOPBP1-related disorder	GBenign
Select item 3328097	NM_007027.4(TOPBP1):c.4211A>C (p.Asp1404Ala)	TOPBP1 (D1404A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181277	NM_007027.4(TOPBP1):c.4152A>C (p.Arg1384Ser)	TOPBP1 (R1379S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036612	NM_007027.4(TOPBP1):c.4110A>C (p.Leu1370=)	TOPBP1	Single nucleotide variant (synonymous variant)	TOPBP1-related disorder	GLikely benign
Select item 3043283	NM_007027.4(TOPBP1):c.4101A>G (p.Gln1367=)	TOPBP1	Single nucleotide variant (synonymous variant)	TOPBP1-related disorder	GLikely benign
Select item 2460045	NM_007027.4(TOPBP1):c.4057A>T (p.Ser1353Cys)	TOPBP1 (S1353C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056520	NM_007027.4(TOPBP1):c.4035+3G>A	TOPBP1	Single nucleotide variant (intron variant)	TOPBP1-related disorder	GBenign
Select item 1342580	NM_007027.4(TOPBP1):c.4007C>G (p.Ala1336Gly)	TOPBP1 (A1331G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3181276	NM_007027.4(TOPBP1):c.3992G>A (p.Arg1331His)	TOPBP1 (R1326H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613885	NM_007027.4(TOPBP1):c.3839G>A (p.Arg1280His)	TOPBP1 (R1275H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181274	NM_007027.4(TOPBP1):c.3817T>C (p.Ser1273Pro)	TOPBP1 (S1268P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328099	NM_007027.4(TOPBP1):c.3805A>T (p.Ile1269Leu)	TOPBP1 (I1264L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225564	NM_007027.4(TOPBP1):c.3767C>T (p.Thr1256Met)	TOPBP1 (T1251M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477315	NM_007027.4(TOPBP1):c.3734C>T (p.Pro1245Leu)	TOPBP1 (P1240L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328093	NM_007027.4(TOPBP1):c.3733C>A (p.Pro1245Thr)	TOPBP1 (P1240T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055420	NM_007027.4(TOPBP1):c.3733C>G (p.Pro1245Ala)	TOPBP1 (P1240A +1 more)	Single nucleotide variant (missense variant)	TOPBP1-related disorder	GLikely benign
Select item 3328096	NM_007027.4(TOPBP1):c.3691A>G (p.Thr1231Ala)	TOPBP1 (T1226A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326252	NM_007027.4(TOPBP1):c.3589C>G (p.Gln1197Glu)	TOPBP1 (Q1192E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181273	NM_007027.4(TOPBP1):c.3557A>G (p.Gln1186Arg)	TOPBP1 (Q1181R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481831	NM_007027.4(TOPBP1):c.3539T>C (p.Leu1180Ser)	TOPBP1 (L1180S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241220	NM_007027.4(TOPBP1):c.3461G>A (p.Arg1154Lys)	TOPBP1 (R1149K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328100	NM_007027.4(TOPBP1):c.3448G>T (p.Ala1150Ser)	TOPBP1 (A1145S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332621	NM_007027.4(TOPBP1):c.3397G>A (p.Val1133Ile)	TOPBP1 (V1128I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1050525	NM_007027.4(TOPBP1):c.3371+9C>T	TOPBP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2470772	NM_007027.4(TOPBP1):c.3328C>T (p.Arg1110Cys)	TOPBP1 (R1105C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226608	NM_007027.4(TOPBP1):c.3304G>A (p.Ala1102Thr)	TOPBP1 (A1097T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370081	NM_007027.4(TOPBP1):c.3250A>G (p.Ile1084Val)	TOPBP1 (I1079V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609971	NM_007027.4(TOPBP1):c.3209A>G (p.Asn1070Ser)	TOPBP1 (N1065S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537862	NM_007027.4(TOPBP1):c.3191C>G (p.Thr1064Ser)	TOPBP1 (T1064S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181272	NM_007027.4(TOPBP1):c.3133G>A (p.Glu1045Lys)	TOPBP1 (E1045K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059833	NM_007027.4(TOPBP1):c.3125A>G (p.Asn1042Ser)	TOPBP1 (N1037S +1 more)	Single nucleotide variant (missense variant)	TOPBP1-related disorder	GBenign
Select item 2593421	NM_007027.4(TOPBP1):c.3110A>G (p.Asp1037Gly)	TOPBP1 (D1032G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034871	NM_007027.4(TOPBP1):c.3075+10A>G	TOPBP1	Single nucleotide variant (intron variant)	TOPBP1-related disorder	GLikely benign
Select item 2469943	NM_007027.4(TOPBP1):c.3040C>G (p.Leu1014Val)	TOPBP1 (L1009V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037133	NM_007027.4(TOPBP1):c.3038G>A (p.Arg1013Gln)	TOPBP1 (R1008Q +1 more)	Single nucleotide variant (missense variant)	TOPBP1-related disorder	GBenign
Select item 3181271	NM_007027.4(TOPBP1):c.3022C>T (p.Arg1008Trp)	TOPBP1 (R1003W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059013	NM_007027.4(TOPBP1):c.3012G>A (p.Val1004=)	TOPBP1	Single nucleotide variant (synonymous variant)	TOPBP1-related disorder	GBenign
Select item 3044965	NM_007027.4(TOPBP1):c.3007G>A (p.Ala1003Thr)	TOPBP1 (A1003T +1 more)	Single nucleotide variant (missense variant)	TOPBP1-related disorder	GBenign
Select item 2292001	NM_007027.4(TOPBP1):c.3007G>T (p.Ala1003Ser)	TOPBP1 (A1003S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533946	NM_007027.4(TOPBP1):c.2975C>T (p.Thr992Ile)	TOPBP1 (T987I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468464	NM_007027.4(TOPBP1):c.2953C>T (p.Pro985Ser)	TOPBP1 (P985S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470683	NM_007027.4(TOPBP1):c.2940G>C (p.Glu980Asp)	TOPBP1 (E980D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351004	NM_007027.4(TOPBP1):c.2911G>A (p.Glu971Lys)	TOPBP1 (E966K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359023	NM_007027.4(TOPBP1):c.2879C>A (p.Ser960Tyr)	TOPBP1 (S960Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345953	NM_007027.4(TOPBP1):c.2867G>A (p.Arg956Gln)	TOPBP1 (R951Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058640	NM_007027.4(TOPBP1):c.2799T>C (p.Asp933=)	TOPBP1	Single nucleotide variant (synonymous variant)	TOPBP1-related disorder	GLikely benign
Select item 3181269	NM_007027.4(TOPBP1):c.2779G>C (p.Ala927Pro)	TOPBP1 (A927P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181268	NM_007027.4(TOPBP1):c.2621C>T (p.Ala874Val)	TOPBP1 (A874V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616330	NM_007027.4(TOPBP1):c.2597T>C (p.Val866Ala)	TOPBP1 (V861A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328098	NM_007027.4(TOPBP1):c.2588T>C (p.Leu863Pro)	TOPBP1 (L863P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473094	NM_007027.4(TOPBP1):c.2582C>T (p.Thr861Met)	TOPBP1 (T856M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181267	NM_007027.4(TOPBP1):c.2578A>C (p.Ser860Arg)	TOPBP1 (S855R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491079	NM_007027.4(TOPBP1):c.2563C>G (p.Gln855Glu)	TOPBP1 (Q850E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228118	NM_007027.4(TOPBP1):c.2552G>A (p.Arg851His)	TOPBP1 (R846H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181266	NM_007027.4(TOPBP1):c.2551C>T (p.Arg851Cys)	TOPBP1 (R851C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3328101	NM_007027.4(TOPBP1):c.2534C>G (p.Ala845Gly)	TOPBP1 (A840G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 670995	NM_007027.4(TOPBP1):c.2450C>T (p.Ser817Leu)	TOPBP1 (S812L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3181265	NM_007027.4(TOPBP1):c.2395G>C (p.Ala799Pro)	TOPBP1 (A799P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260919	NM_007027.4(TOPBP1):c.2373C>G (p.Phe791Leu)	TOPBP1 (F791L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328102	NM_007027.4(TOPBP1):c.2339C>G (p.Pro780Arg)	TOPBP1 (P780R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371154	NM_007027.4(TOPBP1):c.2332G>A (p.Val778Ile)	TOPBP1 (V778I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181264	NM_007027.4(TOPBP1):c.2324A>G (p.Lys775Arg)	TOPBP1 (K770R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181263	NM_007027.4(TOPBP1):c.2086A>G (p.Ile696Val)	TOPBP1 (I691V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477949	NM_007027.4(TOPBP1):c.2048C>G (p.Ser683Cys)	TOPBP1 (S678C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181261	NM_007027.4(TOPBP1):c.1912C>T (p.Pro638Ser)	TOPBP1 (P638S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059429	NM_007027.4(TOPBP1):c.1911T>C (p.Val637=)	TOPBP1	Single nucleotide variant (synonymous variant)	TOPBP1-related disorder	GBenign
Select item 3181260	NM_007027.4(TOPBP1):c.1871C>G (p.Thr624Ser)	TOPBP1 (T619S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540450	NM_007027.4(TOPBP1):c.1820T>C (p.Val607Ala)	TOPBP1 (V602A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331276	NM_007027.4(TOPBP1):c.1807G>A (p.Val603Met)	TOPBP1 (V598M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287028	NM_007027.4(TOPBP1):c.1802G>A (p.Cys601Tyr)	TOPBP1 (C596Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328104	NM_007027.4(TOPBP1):c.1772C>T (p.Ala591Val)	TOPBP1 (A591V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476431	NM_007027.4(TOPBP1):c.1700A>G (p.Asn567Ser)	TOPBP1 (N567S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328095	NM_007027.4(TOPBP1):c.1578C>A (p.His526Gln)	TOPBP1 (H521Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276115	NM_007027.4(TOPBP1):c.1536T>G (p.Phe512Leu)	TOPBP1 (F507L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252898	NM_007027.4(TOPBP1):c.1460A>G (p.Asp487Gly)	TOPBP1 (D487G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181259	NM_007027.4(TOPBP1):c.1448A>C (p.His483Pro)	TOPBP1 (H478P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401847	NM_007027.4(TOPBP1):c.1439G>A (p.Ser480Asn)	TOPBP1 (S475N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2530325	NM_007027.4(TOPBP1):c.1417T>C (p.Ser473Pro)	TOPBP1 (S468P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374838	NM_007027.4(TOPBP1):c.1391T>C (p.Leu464Pro)	TOPBP1 (L459P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181258	NM_007027.4(TOPBP1):c.1378A>G (p.Ser460Gly)	TOPBP1 (S455G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181257	NM_007027.4(TOPBP1):c.1373C>G (p.Pro458Arg)	TOPBP1 (P458R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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