RPAP1[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2381325	NM_015540.4(RPAP1):c.4120C>T (p.Arg1374Cys)	RPAP1 (R1374C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401712	NM_015540.4(RPAP1):c.4111C>A (p.Pro1371Thr)	RPAP1 (P1371T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616261	NM_015540.4(RPAP1):c.4058A>G (p.Tyr1353Cys)	RPAP1 (Y1353C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390212	NM_015540.4(RPAP1):c.3884C>T (p.Ala1295Val)	RPAP1 (A1295V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465834	NM_015540.4(RPAP1):c.3550G>A (p.Ala1184Thr)	RPAP1 (A1184T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611183	NM_015540.4(RPAP1):c.3526C>G (p.Gln1176Glu)	RPAP1 (Q1176E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621241	NM_015540.4(RPAP1):c.3502G>A (p.Glu1168Lys)	RPAP1 (E1168K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263160	NM_015540.4(RPAP1):c.3427C>T (p.Arg1143Cys)	RPAP1 (R1143C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614832	NM_015540.4(RPAP1):c.3361T>C (p.Ser1121Pro)	RPAP1 (S1121P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2379287	NM_015540.4(RPAP1):c.3337G>A (p.Ala1113Thr)	RPAP1 (A1113T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382450	NM_015540.4(RPAP1):c.3335G>A (p.Arg1112Gln)	RPAP1 (R1112Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2274058	NM_015540.4(RPAP1):c.3335G>C (p.Arg1112Pro)	RPAP1 (R1112P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302657	NM_015540.4(RPAP1):c.3323G>T (p.Arg1108Leu)	RPAP1 (R1108L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768696	NM_015540.4(RPAP1):c.3322C>G (p.Arg1108Gly)	RPAP1 (R1108G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2383772	NM_015540.4(RPAP1):c.3298G>A (p.Asp1100Asn)	RPAP1 (D1100N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360120	NM_015540.4(RPAP1):c.3278C>T (p.Thr1093Met)	RPAP1 (T1093M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2410372	NM_015540.4(RPAP1):c.3178C>G (p.Leu1060Val)	RPAP1 (L1060V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538291	NM_015540.4(RPAP1):c.3153C>A (p.Asp1051Glu)	RPAP1 (D1051E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457046	NM_015540.4(RPAP1):c.3142G>A (p.Ala1048Thr)	RPAP1 (A1048T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596167	NM_015540.4(RPAP1):c.3023G>A (p.Arg1008Gln)	RPAP1 (R1008Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321038	NM_015540.4(RPAP1):c.2944A>T (p.Met982Leu)	RPAP1 (M982L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264850	NM_015540.4(RPAP1):c.2900C>T (p.Ala967Val)	RPAP1 (A967V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468112	NM_015540.4(RPAP1):c.2846G>A (p.Arg949His)	RPAP1 (R949H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255043	NM_015540.4(RPAP1):c.2723A>C (p.His908Pro)	RPAP1 (H908P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363248	NM_015540.4(RPAP1):c.2570C>T (p.Pro857Leu)	RPAP1 (P857L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541022	NM_015540.4(RPAP1):c.2476C>T (p.Arg826Cys)	RPAP1 (R826C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281571	NM_015540.4(RPAP1):c.2422G>A (p.Ala808Thr)	RPAP1 (A808T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372204	NM_015540.4(RPAP1):c.2410G>A (p.Ala804Thr)	RPAP1 (A804T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212397	NM_015540.4(RPAP1):c.2333C>T (p.Thr778Ile)	RPAP1 (T778I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556509	NM_015540.4(RPAP1):c.2245G>A (p.Glu749Lys)	RPAP1 (E749K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477998	NM_015540.4(RPAP1):c.2165T>C (p.Ile722Thr)	RPAP1 (I722T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615971	NM_015540.4(RPAP1):c.2017G>A (p.Glu673Lys)	RPAP1 (E673K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208909	NM_015540.4(RPAP1):c.1951C>T (p.Arg651Cys)	RPAP1 (R651C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530021	NM_015540.4(RPAP1):c.1943G>A (p.Arg648His)	RPAP1 (R648H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601376	NM_015540.4(RPAP1):c.1759C>T (p.Pro587Ser)	RPAP1 (P587S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395233	NM_015540.4(RPAP1):c.1757G>A (p.Cys586Tyr)	RPAP1 (C586Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475244	NM_015540.4(RPAP1):c.1720C>T (p.Arg574Trp)	RPAP1 (R574W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344533	NM_015540.4(RPAP1):c.1679C>T (p.Ala560Val)	RPAP1 (A560V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478749	NM_015540.4(RPAP1):c.1673G>C (p.Gly558Ala)	RPAP1 (G558A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492329	NM_015540.4(RPAP1):c.1639C>T (p.Arg547Trp)	RPAP1 (R547W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392671	NM_015540.4(RPAP1):c.1570A>G (p.Ser524Gly)	RPAP1 (S524G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392669	NM_015540.4(RPAP1):c.1569A>C (p.Glu523Asp)	RPAP1 (E523D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392668	NM_015540.4(RPAP1):c.1568A>C (p.Glu523Ala)	RPAP1 (E523A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456499	NM_015540.4(RPAP1):c.1460A>G (p.His487Arg)	RPAP1 (H487R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258801	NM_015540.4(RPAP1):c.1438G>A (p.Asp480Asn)	RPAP1 (D480N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538072	NM_015540.4(RPAP1):c.1285C>T (p.Arg429Trp)	RPAP1 (R429W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271987	NM_015540.4(RPAP1):c.1283A>G (p.Asp428Gly)	RPAP1 (D428G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253418	NM_015540.4(RPAP1):c.1207G>A (p.Val403Ile)	RPAP1 (V403I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277925	NM_015540.4(RPAP1):c.1198C>T (p.Arg400Cys)	RPAP1 (R400C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223491	NM_015540.4(RPAP1):c.1108G>A (p.Val370Met)	RPAP1 (V370M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270889	NM_015540.4(RPAP1):c.906G>T (p.Glu302Asp)	RPAP1 (E302D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223161	NM_015540.4(RPAP1):c.889T>A (p.Ser297Thr)	RPAP1 (S297T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253329	NM_015540.4(RPAP1):c.820G>A (p.Glu274Lys)	RPAP1 (E274K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205016	NM_015540.4(RPAP1):c.814A>G (p.Thr272Ala)	RPAP1 (T272A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2466446	NM_015540.4(RPAP1):c.803C>T (p.Thr268Met)	RPAP1 (T268M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294205	NM_015540.4(RPAP1):c.704T>C (p.Leu235Pro)	RPAP1 (L235P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355812	NM_015540.4(RPAP1):c.615G>T (p.Gln205His)	RPAP1 (Q205H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609770	NM_015540.4(RPAP1):c.514G>T (p.Val172Phe)	RPAP1 (V172F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375809	NM_015540.4(RPAP1):c.506T>C (p.Val169Ala)	RPAP1 (V169A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316588	NM_015540.4(RPAP1):c.404G>A (p.Arg135His)	RPAP1 (R135H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602935	NM_015540.4(RPAP1):c.355G>A (p.Val119Met)	RPAP1 (V119M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371268	NM_015540.4(RPAP1):c.318G>C (p.Leu106Phe)	RPAP1 (L106F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469339	NM_015540.4(RPAP1):c.160C>T (p.Arg54Trp)	RPAP1 (R54W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322988	NM_015540.4(RPAP1):c.101A>T (p.Lys34Met)	RPAP1 (K34M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478508	NM_015540.4(RPAP1):c.67G>C (p.Ala23Pro)	RPAP1 (A23P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222266	NM_015540.4(RPAP1):c.56G>A (p.Ser19Asn)	RPAP1 (S19N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787424	NM_015540.4(RPAP1):c.8C>T (p.Ser3Leu)	RPAP1 (S3L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AP4E1 +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic

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Items: 77