2-Amino-2-propanol - ClinVar - NCBI

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The following term was not found in ClinVar: propanol.

	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 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 1979359	NM_001385641.1(SAMD11):c.609+5G>A	SAMD11	Single nucleotide variant (intron 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 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 provided +1 more	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 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 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 943630	NM_001385641.1(SAMD11):c.802C>T (p.His268Tyr)	SAMD11 (H89Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 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 1085785	NM_001385641.1(SAMD11):c.910C>T (p.His304Tyr)	SAMD11 (H125Y +1 more)	Single nucleotide variant (missense variant)	not specified +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 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 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 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 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 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 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 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 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
Select item 1502284	NM_001385641.1(SAMD11):c.1045G>C (p.Glu349Gln)	SAMD11 (E170Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427749	NM_001385641.1(SAMD11):c.1045G>A (p.Glu349Lys)	SAMD11 (E349K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 946008	NM_001385641.1(SAMD11):c.1052C>T (p.Pro351Leu)	SAMD11 (P172L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1379155	NM_001385641.1(SAMD11):c.1060G>A (p.Ala354Thr)	SAMD11 (A175T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1015275	NM_001385641.1(SAMD11):c.1061C>T (p.Ala354Val)	SAMD11 (A175V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1038863	NM_001385641.1(SAMD11):c.1073C>T (p.Pro358Leu)	SAMD11 (P179L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367703	NM_001385641.1(SAMD11):c.1076G>A (p.Arg359Gln)	SAMD11 (R180Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1354986	NM_001385641.1(SAMD11):c.1076G>C (p.Arg359Pro)	SAMD11 (R359P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913584	NM_001385641.1(SAMD11):c.1080G>T (p.Glu360Asp)	SAMD11 (E181D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346205	NM_001385641.1(SAMD11):c.1080G>C (p.Glu360Asp)	SAMD11 (E361D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3157638	NM_001385641.1(SAMD11):c.1114C>T (p.Arg372Cys)	SAMD11 (R373C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157639	NM_001385641.1(SAMD11):c.1115G>C (p.Arg372Pro)	SAMD11 (R372P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1393423	NM_001385641.1(SAMD11):c.1115G>A (p.Arg372His)	SAMD11 (R372H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930419	NM_001385641.1(SAMD11):c.1166G>A (p.Arg389His)	SAMD11 (R390H +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3157640	NM_001385641.1(SAMD11):c.1195+3G>A	SAMD11 (E221K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537657	NM_001385641.1(SAMD11):c.1195+18C>T	SAMD11 (H226Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1024192	NM_001385641.1(SAMD11):c.1195+25C>T	SAMD11 (P228L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2284430	NM_001385641.1(SAMD11):c.1207G>A (p.Val403Ile)	SAMD11 (V404I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1957959	NM_001385641.1(SAMD11):c.1228G>A (p.Ala410Thr)	SAMD11 (A247T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3157641	NM_001385641.1(SAMD11):c.1241G>A (p.Gly414Asp)	SAMD11 (G251D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236197	NM_001385641.1(SAMD11):c.1250G>T (p.Gly417Val)	SAMD11 (G254V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 935894	NM_001385641.1(SAMD11):c.1252C>G (p.Leu418Val)	SAMD11 (L255V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2062951	NM_001385641.1(SAMD11):c.1267C>T (p.Pro423Ser)	SAMD11 (P260S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1060766	NM_001385641.1(SAMD11):c.1291C>G (p.Arg431Gly)	SAMD11 (R268G +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2302573	NM_001385641.1(SAMD11):c.1321G>A (p.Gly441Ser)	SAMD11 (G278S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1348363	NM_001385641.1(SAMD11):c.1322G>T (p.Gly441Val)	SAMD11 (G278V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2533404	NM_001385641.1(SAMD11):c.1325C>G (p.Ala442Gly)	SAMD11 (A443G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1920718	NM_001385641.1(SAMD11):c.1327G>A (p.Ala443Thr)	SAMD11 (A280T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1006858	NM_001385641.1(SAMD11):c.1336G>A (p.Ala446Thr)	SAMD11 (A283T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1059309	NM_001385641.1(SAMD11):c.1343C>T (p.Pro448Leu)	SAMD11 (P285L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1056304	NM_001385641.1(SAMD11):c.1366C>T (p.Pro456Ser)	SAMD11 (P293S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378409	NM_001385641.1(SAMD11):c.1369C>G (p.Gln457Glu)	SAMD11 (Q457E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 938016	NM_001385641.1(SAMD11):c.1372C>T (p.Pro458Ser)	SAMD11 (P295S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1051163	NM_001385641.1(SAMD11):c.1378C>T (p.Pro460Ser)	SAMD11 (P297S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2217405	NM_001385641.1(SAMD11):c.1399G>A (p.Ala467Thr)	SAMD11 (A467T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290189	NM_001385641.1(SAMD11):c.1411G>A (p.Ala471Thr)	SAMD11 (A308T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372140	NM_001385641.1(SAMD11):c.1412C>T (p.Ala471Val)	SAMD11 (A472V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 840316	NM_001385641.1(SAMD11):c.1420C>T (p.Pro474Ser)	SAMD11 (P311S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2554813	NM_001385641.1(SAMD11):c.1426C>G (p.Leu476Val)	SAMD11 (L476V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 857913	NM_001385641.1(SAMD11):c.1432C>T (p.Pro478Ser)	SAMD11 (P315S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1043143	NM_001385641.1(SAMD11):c.1451C>T (p.Pro484Leu)	SAMD11 (P485L +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1046985	NM_001385641.1(SAMD11):c.1489C>T (p.Pro497Ser)	SAMD11 (P498S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3316072	NM_001385641.1(SAMD11):c.1501G>T (p.Ala501Ser)	SAMD11 (A338S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334732	NM_001385641.1(SAMD11):c.1535G>A (p.Arg512Gln)	SAMD11 (R512Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1005034	NM_001385641.1(SAMD11):c.1552C>T (p.Arg518Trp)	SAMD11 (R355W +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2230934	NM_001385641.1(SAMD11):c.1565C>T (p.Pro522Leu)	SAMD11 (P522L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1925806	NM_001385641.1(SAMD11):c.1567G>A (p.Ala523Thr)	SAMD11 (A523T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 859877	NM_001385641.1(SAMD11):c.1596G>C (p.Glu532Asp)	SAMD11 (E369D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2485599	NM_001385641.1(SAMD11):c.1606C>T (p.Pro536Ser)	SAMD11 (P373S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311726	NM_001385641.1(SAMD11):c.1607C>T (p.Pro536Leu)	SAMD11 (P373L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 860480	NM_001385641.1(SAMD11):c.1609C>A (p.Gln537Lys)	SAMD11 (Q374K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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