1-Phenylmethoxybenzoimidazole-2-carbonitrile - ClinVar - NCBI

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The following terms were not found in ClinVar: Phenylmethoxybenzoimidazole, carbonitrile.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2205837	NM_001005484.2(OR4F5):c.107A>G (p.Glu36Gly)	OR4F5 (E36G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205580	NM_001005484.2(OR4F5):c.287T>G (p.Ile96Ser)	OR4F5 (I96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205581	NM_001005484.2(OR4F5):c.396G>A (p.Met132Ile)	OR4F5 (M132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252161	NM_001005484.2(OR4F5):c.554C>G (p.Pro185Arg)	OR4F5 (P185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396347	NM_001005484.2(OR4F5):c.655G>A (p.Val219Met)	OR4F5 (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205582	NM_001005484.2(OR4F5):c.704T>C (p.Ile235Thr)	OR4F5 (I235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288999	NM_001005484.2(OR4F5):c.742T>C (p.Ser248Pro)	OR4F5 (S248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351346	NM_001005484.2(OR4F5):c.968G>C (p.Ser323Thr)	OR4F5 (S323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 1924157	NM_001385641.1(SAMD11):c.542C>G (p.Ser181Cys)	SAMD11 (S181C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019397	NM_001385641.1(SAMD11):c.548G>A (p.Gly183Glu)	SAMD11 (G183E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069387	NM_001385641.1(SAMD11):c.557A>T (p.Gln186Leu)	SAMD11 (Q186L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362713	NM_001385641.1(SAMD11):c.572T>C (p.Ile191Thr)	SAMD11 (I191T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1365270	NM_001385641.1(SAMD11):c.599C>T (p.Ser200Phe)	SAMD11 (S21F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377425	NM_001385641.1(SAMD11):c.609+1G>A	SAMD11	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1979359	NM_001385641.1(SAMD11):c.609+5G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3038970	NM_001385641.1(SAMD11):c.610-73GCCCCACCTTCCTCTCCTCCT[2]	SAMD11	Microsatellite (intron variant)	SAMD11-related disorder	GLikely benign
Select item 1502618	NM_001385641.1(SAMD11):c.613C>T (p.Arg205Trp)	SAMD11 (R26W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923853	NM_001385641.1(SAMD11):c.619C>T (p.Arg207Trp)	SAMD11 (R207W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365924	NM_001385641.1(SAMD11):c.641T>C (p.Val214Ala)	SAMD11 (V35A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 846933	NM_001385641.1(SAMD11):c.643G>A (p.Ala215Thr)	SAMD11 (A36T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478180	NM_001385641.1(SAMD11):c.644C>T (p.Ala215Val)	SAMD11 (A36V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380424	NM_001385641.1(SAMD11):c.650C>G (p.Pro217Arg)	SAMD11 (P217R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354167	NM_001385641.1(SAMD11):c.650C>T (p.Pro217Leu)	SAMD11 (P38L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1043045	NM_001385641.1(SAMD11):c.655G>A (p.Ala219Thr)	SAMD11 (A219T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2012623	NM_001385641.1(SAMD11):c.656C>T (p.Ala219Val)	SAMD11 (A219V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972363	NM_001385641.1(SAMD11):c.658C>T (p.Arg220Trp)	SAMD11 (R41W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1409578	NM_001385641.1(SAMD11):c.670A>G (p.Lys224Glu)	SAMD11 (K224E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523336	NM_001385641.1(SAMD11):c.673G>A (p.Glu225Lys)	SAMD11 (E225K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715702	NM_001385641.1(SAMD11):c.683C>G (p.Pro228Arg)	SAMD11 (P228R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122561	NM_001385641.1(SAMD11):c.685A>G (p.Ser229Gly)	SAMD11 (S229G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497763	NM_001385641.1(SAMD11):c.698G>A (p.Ser233Asn)	SAMD11 (S233N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499045	NM_001385641.1(SAMD11):c.715G>A (p.Gly239Arg)	SAMD11 (G239R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473769	NM_001385641.1(SAMD11):c.716G>C (p.Gly239Ala)	SAMD11 (G239A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368373	NM_001385641.1(SAMD11):c.720T>G (p.Ser240Arg)	SAMD11 (S61R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969662	NM_001385641.1(SAMD11):c.730T>G (p.Cys244Gly)	SAMD11 (C65G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993184	NM_001385641.1(SAMD11):c.734G>A (p.Gly245Glu)	SAMD11 (G245E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476127	NM_001385641.1(SAMD11):c.736C>T (p.Arg246Trp)	SAMD11 (R67W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435698	NM_001385641.1(SAMD11):c.739C>T (p.Arg247Trp)	SAMD11 (R247W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505398	NM_001385641.1(SAMD11):c.767C>G (p.Pro256Arg)	SAMD11 (P77R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484446	NM_001385641.1(SAMD11):c.767C>T (p.Pro256Leu)	SAMD11 (P77L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1002057	NM_001385641.1(SAMD11):c.772A>G (p.Ile258Val)	SAMD11 (I258V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1359546	NM_001385641.1(SAMD11):c.775C>G (p.Arg259Gly)	SAMD11 (R259G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478458	NM_001385641.1(SAMD11):c.776G>T (p.Arg259Leu)	SAMD11 (R259L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002043	NM_001385641.1(SAMD11):c.776G>A (p.Arg259His)	SAMD11 (R259H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367641	NM_001385641.1(SAMD11):c.778A>G (p.Ile260Val)	SAMD11 (I260V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3157634	NM_001385641.1(SAMD11):c.779T>C (p.Ile260Thr)	SAMD11 (I260T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157635	NM_001385641.1(SAMD11):c.782T>C (p.Met261Thr)	SAMD11 (M261T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1445934	NM_001385641.1(SAMD11):c.785A>C (p.Lys262Thr)	SAMD11 (K262T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 843786	NM_001385641.1(SAMD11):c.791G>A (p.Arg264Lys)	SAMD11 (R85K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491011	NM_001385641.1(SAMD11):c.794T>C (p.Val265Ala)	SAMD11 (V86A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354897	NM_001385641.1(SAMD11):c.794T>A (p.Val265Asp)	SAMD11 (V86D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047272	NM_001385641.1(SAMD11):c.796C>T (p.His266Tyr)	SAMD11 (H266Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385724	NM_001385641.1(SAMD11):c.797A>G (p.His266Arg)	SAMD11 (H87R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943630	NM_001385641.1(SAMD11):c.802C>T (p.His268Tyr)	SAMD11 (H89Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 852351	NM_001385641.1(SAMD11):c.803A>G (p.His268Arg)	SAMD11 (H89R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047625	NM_001385641.1(SAMD11):c.827G>A (p.Arg276Gln)	SAMD11 (R97Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2022979	NM_001385641.1(SAMD11):c.842G>A (p.Ser281Asn)	SAMD11 (S102N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1167937	NM_001385641.1(SAMD11):c.850G>A (p.Gly284Ser)	SAMD11 (G105S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3316075	NM_001385641.1(SAMD11):c.856C>T (p.Leu286Phe)	SAMD11 (L107F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1484814	NM_001385641.1(SAMD11):c.863C>G (p.Thr288Ser)	SAMD11 (T109S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1379347	NM_001385641.1(SAMD11):c.874A>G (p.Ser292Gly)	SAMD11 (S113G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897286	NM_001385641.1(SAMD11):c.877G>A (p.Val293Ile)	SAMD11 (V293I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379812	NM_001385641.1(SAMD11):c.881A>G (p.His294Arg)	SAMD11 (H115R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094939	NM_001385641.1(SAMD11):c.882C>A (p.His294Gln)	SAMD11 (H115Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008984	NM_001385641.1(SAMD11):c.890G>T (p.Arg297Leu)	SAMD11 (R118L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1462622	NM_001385641.1(SAMD11):c.903G>T (p.Met301Ile)	SAMD11 (M301I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 962835	NM_001385641.1(SAMD11):c.904C>G (p.Pro302Ala)	SAMD11 (P123A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523692	NM_001385641.1(SAMD11):c.907G>C (p.Glu303Gln)	SAMD11 (E124Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494564	NM_001385641.1(SAMD11):c.907G>A (p.Glu303Lys)	SAMD11 (E303K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1085785	NM_001385641.1(SAMD11):c.910C>T (p.His304Tyr)	SAMD11 (H125Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2242101	NM_001385641.1(SAMD11):c.917G>A (p.Ser306Asn)	SAMD11 (S127N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 862561	NM_001385641.1(SAMD11):c.918C>G (p.Ser306Arg)	SAMD11 (S127R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909476	NM_001385641.1(SAMD11):c.919C>T (p.Arg307Cys)	SAMD11 (R307C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1352371	NM_001385641.1(SAMD11):c.920G>A (p.Arg307His)	SAMD11 (R128H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059598	NM_001385641.1(SAMD11):c.922T>C (p.Cys308Arg)	SAMD11 (C129R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076576	NM_001385641.1(SAMD11):c.924T>G (p.Cys308Trp)	SAMD11 (C308W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013657	NM_001385641.1(SAMD11):c.927A>C (p.Glu309Asp)	SAMD11 (E130D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427585	NM_001385641.1(SAMD11):c.929T>G (p.Phe310Cys)	SAMD11 (F131C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939045	NM_001385641.1(SAMD11):c.935G>A (p.Arg312Lys)	SAMD11 (R312K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929801	NM_001385641.1(SAMD11):c.941G>T (p.Ser314Ile)	SAMD11 (S135I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2537849	NM_001385641.1(SAMD11):c.946G>A (p.Glu316Lys)	SAMD11 (E316K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1025423	NM_001385641.1(SAMD11):c.953G>A (p.Gly318Asp)	SAMD11 (G139D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365896	NM_001385641.1(SAMD11):c.959G>A (p.Arg320Gln)	SAMD11 (R141Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1476759	NM_001385641.1(SAMD11):c.962C>T (p.Pro321Leu)	SAMD11 (P321L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1015922	NM_001385641.1(SAMD11):c.964G>A (p.Ala322Thr)	SAMD11 (A143T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525351	NM_001385641.1(SAMD11):c.967G>A (p.Gly323Ser)	SAMD11 (G144S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306661	NM_001385641.1(SAMD11):c.989T>C (p.Leu330Pro)	SAMD11 (L151P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 861002	NM_001385641.1(SAMD11):c.994C>T (p.Arg332Cys)	SAMD11 (R153C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1043874	NM_001385641.1(SAMD11):c.995G>A (p.Arg332His)	SAMD11 (R153H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370062	NM_001385641.1(SAMD11):c.997T>C (p.Ser333Pro)	SAMD11 (S154P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3157637	NM_001385641.1(SAMD11):c.998C>A (p.Ser333Tyr)	SAMD11 (S333Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1417694	NM_001385641.1(SAMD11):c.998C>T (p.Ser333Phe)	SAMD11 (S333F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 857919	NM_001385641.1(SAMD11):c.1003C>T (p.Arg335Cys)	SAMD11 (R156C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 855371	NM_001385641.1(SAMD11):c.1004G>T (p.Arg335Leu)	SAMD11 (R156L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900678	NM_001385641.1(SAMD11):c.1015G>T (p.Asp339Tyr)	SAMD11 (D160Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348410	NM_001385641.1(SAMD11):c.1015G>A (p.Asp339Asn)	SAMD11 (D160N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2321337	NM_001385641.1(SAMD11):c.1027G>A (p.Glu343Lys)	SAMD11 (E343K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 968364	NM_001385641.1(SAMD11):c.1031A>C (p.Lys344Thr)	SAMD11 (K165T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1045276	NM_001385641.1(SAMD11):c.1040G>A (p.Arg347Gln)	SAMD11 (R168Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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