ClinVar for Gene (Select 85376) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314344	NM_015672.2(RIMBP3):c.1469G>A (p.Arg490Gln)	RIMBP3 (R490Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314343	NM_015672.2(RIMBP3):c.1691A>G (p.Glu564Gly)	RIMBP3 (E564G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314342	NM_015672.2(RIMBP3):c.110G>C (p.Arg37Pro)	RIMBP3 (R37P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314341	NM_015672.2(RIMBP3):c.4169T>C (p.Leu1390Pro)	RIMBP3 (L1390P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3314340	NM_015672.2(RIMBP3):c.2561A>G (p.Glu854Gly)	RIMBP3 (E854G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314339	NM_015672.2(RIMBP3):c.4660G>T (p.Gly1554Cys)	RIMBP3 (G1554C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314338	NM_015672.2(RIMBP3):c.4343C>T (p.Thr1448Met)	RIMBP3 (T1448M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314337	NM_015672.2(RIMBP3):c.3733G>A (p.Ala1245Thr)	RIMBP3 (A1245T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242338	GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1	AIFM3, ARVCF +43 more	Copy number loss	not provided	GPathogenic
Select item 3242284	GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 3154349	NM_015672.2(RIMBP3):c.4358C>T (p.Pro1453Leu)	RIMBP3 (P1453L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154347	NM_015672.2(RIMBP3):c.4036G>A (p.Ala1346Thr)	RIMBP3 (A1346T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154344	NM_015672.2(RIMBP3):c.3367G>T (p.Val1123Phe)	RIMBP3 (V1123F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154343	NM_015672.2(RIMBP3):c.3257C>A (p.Pro1086His)	LOC129391262, RIMBP3 (P1086H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154342	NM_015672.2(RIMBP3):c.2878A>G (p.Ile960Val)	RIMBP3 (I960V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154341	NM_015672.2(RIMBP3):c.2693C>T (p.Pro898Leu)	RIMBP3 (P898L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154339	NM_015672.2(RIMBP3):c.2093G>A (p.Arg698Gln)	RIMBP3 (R698Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154338	NM_015672.2(RIMBP3):c.1931G>A (p.Gly644Asp)	RIMBP3 (G644D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154336	NM_015672.2(RIMBP3):c.1325A>G (p.Asn442Ser)	RIMBP3 (N442S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148947	GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1	AIFM3, ARVCF +49 more	Copy number loss	See cases	GPathogenic
Select item 3148946	GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3	AIFM3, ARVCF +49 more	Copy number gain	not provided	GPathogenic
Select item 3148922	GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3	AIFM3, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148919	GRCh37/hg19 22q11.21(chr22:18649190-21022258)x3	ARVCF, C22orf39 +37 more	Copy number gain	See cases	GPathogenic
Select item 3148859	GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3	AIFM3, ARVCF +50 more	Copy number gain	not provided	GPathogenic
Select item 2685672	GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1	RTL10, RTN4R +45 more	Copy number loss	not provided	GPathogenic
Select item 2684927	GRCh37/hg19 22q11.21(chr22:18916843-20716903)x3	ARVCF, C22orf39 +30 more	Copy number gain	not provided	GPathogenic
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	CLTCL1, COMT +46 more	Copy number loss	not provided	GPathogenic
Select item 2652886	NM_015672.2(RIMBP3):c.1971C>G (p.Ala657=)	RIMBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652885	NM_015672.2(RIMBP3):c.1981C>T (p.Leu661=)	RIMBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622137	NM_015672.2(RIMBP3):c.1279C>T (p.Leu427Phe)	RIMBP3 (L427F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619883	NM_015672.2(RIMBP3):c.3901C>A (p.Pro1301Thr)	RIMBP3 (P1301T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611182	NM_015672.2(RIMBP3):c.1466T>C (p.Leu489Pro)	RIMBP3 (L489P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608608	NM_015672.2(RIMBP3):c.2420G>A (p.Ser807Asn)	RIMBP3 (S807N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607041	NM_015672.2(RIMBP3):c.1523T>C (p.Leu508Pro)	RIMBP3 (L508P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600591	NM_015672.2(RIMBP3):c.1968C>G (p.Ile656Met)	RIMBP3 (I656M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599530	NM_015672.2(RIMBP3):c.3598A>G (p.Thr1200Ala)	RIMBP3 (T1200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596581	NM_015672.2(RIMBP3):c.1205G>A (p.Arg402Gln)	RIMBP3 (R402Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591922	NM_015672.2(RIMBP3):c.1564G>A (p.Val522Ile)	RIMBP3 (V522I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591546	NM_015672.2(RIMBP3):c.3547G>A (p.Glu1183Lys)	RIMBP3 (E1183K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591223	NM_015672.2(RIMBP3):c.2381C>T (p.Thr794Ile)	RIMBP3 (T794I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580309	GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3	AIFM3, ARVCF +45 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal +1 more	GPathogenic
Select item 2580291	GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3	ARVCF, C22orf39 +30 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 2565962	NM_015672.2(RIMBP3):c.2656C>T (p.Arg886Trp)	RIMBP3 (R886W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557453	NM_015672.2(RIMBP3):c.1544C>T (p.Pro515Leu)	RIMBP3 (P515L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553717	NM_015672.2(RIMBP3):c.3020C>T (p.Thr1007Ile)	RIMBP3 (T1007I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549725	NM_015672.2(RIMBP3):c.2425G>A (p.Val809Met)	RIMBP3 (V809M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537395	NM_015672.2(RIMBP3):c.3235G>C (p.Asp1079His)	LOC129391262, RIMBP3 (D1079H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527852	NM_015672.2(RIMBP3):c.1175A>C (p.Tyr392Ser)	RIMBP3 (Y392S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515222	NM_015672.2(RIMBP3):c.3373G>A (p.Gly1125Ser)	RIMBP3 (G1125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514060	NM_015672.2(RIMBP3):c.4283G>A (p.Cys1428Tyr)	RIMBP3 (C1428Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513626	NM_015672.2(RIMBP3):c.1298A>G (p.Asp433Gly)	RIMBP3 (D433G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513390	NM_015672.2(RIMBP3):c.4240G>A (p.Val1414Met)	RIMBP3 (V1414M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510379	NM_015672.2(RIMBP3):c.1999G>C (p.Gly667Arg)	RIMBP3 (G667R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 2478934	NM_015672.2(RIMBP3):c.1246C>T (p.Arg416Trp)	RIMBP3 (R416W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478748	NM_015672.2(RIMBP3):c.4144G>A (p.Glu1382Lys)	RIMBP3 (E1382K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473684	NM_015672.2(RIMBP3):c.2334A>C (p.Lys778Asn)	RIMBP3 (K778N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473683	NM_015672.2(RIMBP3):c.2333A>C (p.Lys778Thr)	RIMBP3 (K778T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468475	NM_015672.2(RIMBP3):c.2998C>T (p.His1000Tyr)	RIMBP3 (H1000Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467186	NM_015672.2(RIMBP3):c.3911G>C (p.Ser1304Thr)	RIMBP3 (S1304T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466022	NM_015672.2(RIMBP3):c.1433C>T (p.Ala478Val)	RIMBP3 (A478V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464654	NM_015672.2(RIMBP3):c.3184C>T (p.Arg1062Trp)	LOC129391262, RIMBP3 (R1062W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459183	NM_015672.2(RIMBP3):c.1223A>G (p.Tyr408Cys)	RIMBP3 (Y408C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458742	NM_015672.2(RIMBP3):c.3569G>A (p.Arg1190Gln)	RIMBP3 (R1190Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2445211	Single allele	AIFM3, ARVCF +45 more	Deletion	See cases	GPathogenic
Select item 2403577	NM_015672.2(RIMBP3):c.2971G>C (p.Val991Leu)	RIMBP3 (V991L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400970	NM_015672.2(RIMBP3):c.2978G>A (p.Arg993His)	RIMBP3 (R993H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2400632	NM_015672.2(RIMBP3):c.3439C>G (p.Leu1147Val)	RIMBP3 (L1147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398959	NM_015672.2(RIMBP3):c.2977C>T (p.Arg993Cys)	RIMBP3 (R993C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393950	NM_015672.2(RIMBP3):c.3991C>T (p.Arg1331Cys)	RIMBP3 (R1331C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384896	NM_015672.2(RIMBP3):c.3992G>A (p.Arg1331His)	RIMBP3 (R1331H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380045	NM_015672.2(RIMBP3):c.1240G>A (p.Val414Met)	RIMBP3 (V414M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378052	NM_015672.2(RIMBP3):c.1409G>A (p.Arg470Gln)	RIMBP3 (R470Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375519	NM_015672.2(RIMBP3):c.1769A>G (p.Gln590Arg)	RIMBP3 (Q590R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374461	NM_015672.2(RIMBP3):c.3202T>C (p.Tyr1068His)	LOC129391262, RIMBP3 (Y1068H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367609	NM_015672.2(RIMBP3):c.4523G>C (p.Gly1508Ala)	RIMBP3 (G1508A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365580	NM_015672.2(RIMBP3):c.3286C>T (p.Arg1096Cys)	RIMBP3 (R1096C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364433	NM_015672.2(RIMBP3):c.2480C>T (p.Ala827Val)	RIMBP3 (A827V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2358843	NM_015672.2(RIMBP3):c.4322G>A (p.Gly1441Asp)	RIMBP3 (G1441D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357480	NM_015672.2(RIMBP3):c.1958C>T (p.Ser653Phe)	RIMBP3 (S653F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356597	NM_015672.2(RIMBP3):c.4099G>A (p.Ala1367Thr)	RIMBP3 (A1367T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354043	NM_015672.2(RIMBP3):c.3266C>A (p.Pro1089Gln)	LOC129391262, RIMBP3 (P1089Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351241	NM_015672.2(RIMBP3):c.3643C>T (p.Pro1215Ser)	RIMBP3 (P1215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348995	NM_015672.2(RIMBP3):c.3997G>C (p.Glu1333Gln)	RIMBP3 (E1333Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345460	NM_015672.2(RIMBP3):c.3550G>T (p.Asp1184Tyr)	RIMBP3 (D1184Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343600	NM_015672.2(RIMBP3):c.3997G>A (p.Glu1333Lys)	RIMBP3 (E1333K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326547	NM_015672.2(RIMBP3):c.1286G>C (p.Arg429Pro)	RIMBP3 (R429P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326107	NM_015672.2(RIMBP3):c.1934G>C (p.Arg645Pro)	RIMBP3 (R645P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321780	NM_015672.2(RIMBP3):c.2102A>G (p.His701Arg)	RIMBP3 (H701R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312556	NM_015672.2(RIMBP3):c.3530T>G (p.Val1177Gly)	RIMBP3 (V1177G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282246	NM_015672.2(RIMBP3):c.2372T>G (p.Met791Arg)	RIMBP3 (M791R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281057	NM_015672.2(RIMBP3):c.3857G>A (p.Arg1286Lys)	RIMBP3 (R1286K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254942	NM_015672.2(RIMBP3):c.4303G>A (p.Val1435Ile)	RIMBP3 (V1435I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254647	NM_015672.2(RIMBP3):c.4736A>G (p.Asp1579Gly)	RIMBP3 (D1579G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253771	NM_015672.2(RIMBP3):c.2924G>T (p.Ser975Ile)	RIMBP3 (S975I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247220	NM_015672.2(RIMBP3):c.289C>T (p.Arg97Trp)	RIMBP3 (R97W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221109	NM_015672.2(RIMBP3):c.3811G>A (p.Ala1271Thr)	RIMBP3 (A1271T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219025	NM_015672.2(RIMBP3):c.3415G>A (p.Ala1139Thr)	RIMBP3 (A1139T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1879568	GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1	AIFM3, ARVCF +38 more	Copy number loss	not provided	GPathogenic

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