RRP12[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 128

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 3156501	NM_015179.4(RRP12):c.3884G>A (p.Arg1295His)	RRP12 (R1195H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527730	NM_015179.4(RRP12):c.3841C>T (p.Arg1281Trp)	RRP12 (R1281W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384824	NM_015179.4(RRP12):c.3821A>G (p.Lys1274Arg)	RRP12 (K1213R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264639	NM_015179.4(RRP12):c.3812G>A (p.Gly1271Glu)	RRP12 (G1171E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383167	NM_015179.4(RRP12):c.3787C>T (p.Arg1263Cys)	RRP12 (R1202C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156500	NM_015179.4(RRP12):c.3746A>C (p.Asp1249Ala)	RRP12 (D1188A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156499	NM_015179.4(RRP12):c.3624A>G (p.Ile1208Met)	RRP12 (I1108M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622275	NM_015179.4(RRP12):c.3607G>C (p.Glu1203Gln)	RRP12 (E1203Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156497	NM_015179.4(RRP12):c.3597A>T (p.Lys1199Asn)	RRP12 (K1099N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334430	NM_015179.4(RRP12):c.3592C>G (p.Gln1198Glu)	RRP12 (Q1098E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156496	NM_015179.4(RRP12):c.3484G>A (p.Gly1162Ser)	RRP12 (G1162S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470670	NM_015179.4(RRP12):c.3470G>A (p.Arg1157Lys)	RRP12 (R1157K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3315461	NM_015179.4(RRP12):c.3395C>T (p.Thr1132Met)	RRP12 (T1032M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315451	NM_015179.4(RRP12):c.3381A>T (p.Gln1127His)	RRP12 (Q1066H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247992	NM_015179.4(RRP12):c.3371A>G (p.Lys1124Arg)	RRP12 (K1024R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315462	NM_015179.4(RRP12):c.3346G>A (p.Glu1116Lys)	RRP12 (E1016K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483804	NM_015179.4(RRP12):c.3305G>A (p.Arg1102Gln)	RRP12 (R1102Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520691	NM_015179.4(RRP12):c.3257A>G (p.Asn1086Ser)	RRP12 (N1086S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156495	NM_015179.4(RRP12):c.3256A>G (p.Asn1086Asp)	RRP12 (N1086D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295132	NM_015179.4(RRP12):c.3249G>C (p.Glu1083Asp)	RRP12 (E1083D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477261	NM_015179.4(RRP12):c.3222G>T (p.Glu1074Asp)	RRP12 (E1013D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156494	NM_015179.4(RRP12):c.3217A>G (p.Ile1073Val)	RRP12 (I1073V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213033	NM_015179.4(RRP12):c.3157G>A (p.Val1053Met)	RRP12 (V953M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402431	NM_015179.4(RRP12):c.3122G>A (p.Arg1041Gln)	RRP12 (R980Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309164	NM_015179.4(RRP12):c.3122G>C (p.Arg1041Pro)	RRP12 (R941P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511789	NM_015179.4(RRP12):c.3121C>G (p.Arg1041Gly)	RRP12 (R941G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320917	NM_015179.4(RRP12):c.3106C>T (p.Arg1036Trp)	RRP12 (R1036W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526736	NM_015179.4(RRP12):c.3037C>T (p.Arg1013Cys)	RRP12 (R1013C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156493	NM_015179.4(RRP12):c.3025A>G (p.Thr1009Ala)	RRP12 (T909A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600324	NM_015179.4(RRP12):c.3001C>T (p.Arg1001Cys)	RRP12 (R901C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315454	NM_015179.4(RRP12):c.2993G>A (p.Arg998Gln)	RRP12 (R937Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529049	NM_015179.4(RRP12):c.2992C>T (p.Arg998Trp)	RRP12 (R898W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554011	NM_015179.4(RRP12):c.2989C>T (p.Arg997Trp)	RRP12 (R997W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156491	NM_015179.4(RRP12):c.2942A>G (p.His981Arg)	RRP12 (H920R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156490	NM_015179.4(RRP12):c.2918T>C (p.Met973Thr)	RRP12 (M973T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470429	NM_015179.4(RRP12):c.2912C>T (p.Thr971Ile)	RRP12 (T871I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471843	NM_015179.4(RRP12):c.2867G>A (p.Arg956His)	RRP12 (R956H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348198	NM_015179.4(RRP12):c.2849T>C (p.Leu950Pro)	RRP12 (L850P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156489	NM_015179.4(RRP12):c.2798G>T (p.Gly933Val)	RRP12 (G833V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156488	NM_015179.4(RRP12):c.2737G>A (p.Ala913Thr)	RRP12 (A852T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315457	NM_015179.4(RRP12):c.2710G>A (p.Val904Ile)	RRP12 (V843I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156487	NM_015179.4(RRP12):c.2691G>T (p.Glu897Asp)	RRP12 (E836D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272911	NM_015179.4(RRP12):c.2660C>G (p.Ala887Gly)	RRP12 (A887G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315460	NM_015179.4(RRP12):c.2629G>A (p.Ala877Thr)	RRP12 (A816T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324958	NM_015179.4(RRP12):c.2628C>G (p.Asn876Lys)	RRP12 (N776K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156486	NM_015179.4(RRP12):c.2620C>T (p.Arg874Trp)	RRP12 (R774W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471508	NM_015179.4(RRP12):c.2599A>C (p.Lys867Gln)	RRP12 (K767Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485100	NM_015179.4(RRP12):c.2548G>A (p.Glu850Lys)	RRP12 (E850K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519489	NM_015179.4(RRP12):c.2530G>A (p.Val844Met)	RRP12 (V744M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538671	NM_015179.4(RRP12):c.2503C>T (p.Pro835Ser)	RRP12 (P835S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596123	NM_015179.4(RRP12):c.2498A>G (p.Lys833Arg)	RRP12 (K733R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383600	NM_015179.4(RRP12):c.2476C>T (p.Arg826Trp)	RRP12 (R726W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776533	NM_015179.4(RRP12):c.2427C>T (p.Phe809=)	RRP12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2276198	NM_015179.4(RRP12):c.2353C>T (p.His785Tyr)	RRP12 (H685Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514992	NM_015179.4(RRP12):c.2323A>T (p.Thr775Ser)	RRP12 (T714S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546094	NM_015179.4(RRP12):c.2246C>T (p.Thr749Ile)	RRP12 (T688I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729563	NM_015179.4(RRP12):c.2233A>G (p.Ser745Gly)	RRP12 (S645G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2471422	NM_015179.4(RRP12):c.2227C>A (p.Pro743Thr)	RRP12 (P682T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398915	NM_015179.4(RRP12):c.2218G>A (p.Val740Met)	RRP12 (V679M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640737	NM_015179.4(RRP12):c.2214G>A (p.Glu738=)	RRP12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2260488	NM_015179.4(RRP12):c.2175C>G (p.Asp725Glu)	RRP12 (D725E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3315456	NM_015179.4(RRP12):c.2128C>T (p.Arg710Cys)	RRP12 (R610C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406362	NM_015179.4(RRP12):c.2123C>A (p.Ala708Asp)	RRP12 (A608D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568408	NM_015179.4(RRP12):c.2113G>T (p.Asp705Tyr)	RRP12 (D605Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555626	NM_015179.4(RRP12):c.2110G>A (p.Gly704Arg)	RRP12 (G643R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518384	NM_015179.4(RRP12):c.1960C>T (p.Arg654Cys)	RRP12 (R554C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315459	NM_015179.4(RRP12):c.1957G>A (p.Glu653Lys)	RRP12 (E553K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240293	NM_015179.4(RRP12):c.1846G>A (p.Asp616Asn)	RRP12 (D555N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343712	NM_015179.4(RRP12):c.1784C>A (p.Thr595Asn)	RRP12 (T495N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376708	NM_015179.4(RRP12):c.1742G>A (p.Arg581Gln)	RRP12 (R481Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524997	NM_015179.4(RRP12):c.1739C>T (p.Thr580Met)	RRP12 (T480M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156484	NM_015179.4(RRP12):c.1727A>G (p.His576Arg)	RRP12 (H515R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342936	NM_015179.4(RRP12):c.1720C>G (p.Arg574Gly)	RRP12 (R513G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612065	NM_015179.4(RRP12):c.1599G>C (p.Gln533His)	RRP12 (Q533H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718551	NM_015179.4(RRP12):c.1513G>A (p.Ala505Thr)	RRP12 (A505T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3156483	NM_015179.4(RRP12):c.1456G>T (p.Ala486Ser)	RRP12 (A425S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315453	NM_015179.4(RRP12):c.1454C>T (p.Ala485Val)	RRP12 (A485V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223792	NM_015179.4(RRP12):c.1391C>T (p.Pro464Leu)	RRP12 (P464L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315458	NM_015179.4(RRP12):c.1379C>T (p.Ser460Leu)	RRP12 (S360L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156482	NM_015179.4(RRP12):c.1348C>T (p.His450Tyr)	RRP12 (H450Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156481	NM_015179.4(RRP12):c.1315C>T (p.Leu439Phe)	RRP12 (L339F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640738	NM_015179.4(RRP12):c.1260G>A (p.Ala420=)	RRP12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2317647	NM_015179.4(RRP12):c.1138A>C (p.Ser380Arg)	RRP12 (S280R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516650	NM_015179.4(RRP12):c.1130A>G (p.Tyr377Cys)	RRP12 (Y277C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551803	NM_015179.4(RRP12):c.1066A>T (p.Arg356Trp)	RRP12 (R256W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156480	NM_015179.4(RRP12):c.1063G>T (p.Ala355Ser)	RRP12 (A255S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156479	NM_015179.4(RRP12):c.1037T>C (p.Met346Thr)	RRP12 (M246T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315452	NM_015179.4(RRP12):c.972G>T (p.Lys324Asn)	RRP12 (K224N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312312	NM_015179.4(RRP12):c.893C>T (p.Ser298Phe)	RRP12 (S198F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220610	NM_015179.4(RRP12):c.863G>A (p.Cys288Tyr)	RRP12 (C227Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156504	NM_015179.4(RRP12):c.807C>A (p.Phe269Leu)	RRP12 (F169L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612763	NM_015179.4(RRP12):c.739C>T (p.His247Tyr)	RRP12 (H186Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408209	NM_015179.4(RRP12):c.734C>T (p.Thr245Met)	RRP12 (T184M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546781	NM_015179.4(RRP12):c.722T>C (p.Leu241Pro)	RRP12 (L241P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324897	NM_015179.4(RRP12):c.671A>G (p.Gln224Arg)	RRP12 (Q224R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156503	NM_015179.4(RRP12):c.578C>T (p.Ala193Val)	RRP12 (A193V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286951	NM_015179.4(RRP12):c.506A>C (p.Tyr169Ser)	RRP12 (Y169S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 2