List of variants reported as uncertain significance for Alzheimer disease

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 157

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HGVS	dbSNP	gnomAD frequency
NM_000484.3(APP):c.-626C>T	rs139885956	0.00230
NM_000484.4(APP):c.1810G>A (p.Val604Met)	rs199887707	0.00050
NM_000484.4(APP):c.*489A>G	rs199862130	0.00046
NM_000484.4(APP):c.663-9C>A	rs199587668	0.00045
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)	rs63750592	0.00030
NM_000484.4(APP):c.*194A>C	rs199977643	0.00019
NM_000484.4(APP):c.982C>T (p.Arg328Trp)	rs200978018	0.00019
NM_000484.4(APP):c.1689T>C (p.Asp563=)	rs137865262	0.00014
NM_000484.4(APP):c.*454A>G	rs200492624	0.00011
NM_000484.4(APP):c.602C>T (p.Ala201Val)	rs149995579	0.00011
NM_000484.4(APP):c.-132G>T	rs886056998	0.00006
NM_000484.4(APP):c.1458+9C>T	rs201937048	0.00006
NM_000484.4(APP):c.1726G>A (p.Val576Ile)	rs200769792	0.00005
NM_000484.4(APP):c.47G>A (p.Arg16Gln)	rs955517095	0.00005
NM_000484.4(APP):c.885C>T (p.Ala295=)	rs199890425	0.00005
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala)	rs63750110	0.00004
NM_000484.4(APP):c.*355A>G	rs939934369	0.00004
NM_000484.4(APP):c.1406G>A (p.Arg469His)	rs199549173	0.00004
NM_000484.4(APP):c.1751C>G (p.Pro584Arg)	rs145371658	0.00004
NM_000484.4(APP):c.2138C>T (p.Ala713Val)	rs1800557	0.00004
NM_000484.4(APP):c.298C>T (p.Arg100Trp)	rs200347552	0.00004
NM_000484.4(APP):c.727G>A (p.Asp243Asn)	rs750279232	0.00004
NM_000484.4(APP):c.917G>A (p.Arg306His)	rs202218688	0.00004
NM_000484.4(APP):c.*1015T>G	rs202108412	0.00003
NM_000484.4(APP):c.1458+10G>A	rs201290605	0.00003
NM_000484.4(APP):c.2125G>A (p.Gly709Ser)	rs201269325	0.00003
NM_000484.4(APP):c.46C>T (p.Arg16Trp)	rs202070273	0.00003
NM_000484.4(APP):c.1034-6C>G	rs767889396	0.00002
NM_000484.4(APP):c.1463G>A (p.Arg488His)	rs200587958	0.00002
NM_000484.4(APP):c.1775C>T (p.Ala592Val)	rs754790092	0.00002
NM_000484.4(APP):c.1957C>A (p.Arg653=)	rs370979414	0.00002
NM_000484.4(APP):c.574G>A (p.Glu192Lys)	rs759517529	0.00002
NM_000484.4(APP):c.674T>C (p.Val225Ala)	rs746313873	0.00002
NM_000484.4(APP):c.*289C>T	rs199534609	0.00001
NM_000484.4(APP):c.*356T>G	rs1445554583	0.00001
NM_000484.4(APP):c.1008C>T (p.Tyr336=)	rs772676633	0.00001
NM_000484.4(APP):c.1030G>A (p.Ala344Thr)	rs201045185	0.00001
NM_000484.4(APP):c.1076G>A (p.Arg359Gln)	rs1057524107	0.00001
NM_000484.4(APP):c.1090+4C>T	rs532690231	0.00001
NM_000484.4(APP):c.1123G>A (p.Val375Ile)	rs141331202	0.00001
NM_000484.4(APP):c.1224+12T>C	rs200725014	0.00001
NM_000484.4(APP):c.126C>T (p.Asn42=)	rs745974049	0.00001
NM_000484.4(APP):c.130C>T (p.His44Tyr)	rs774281569	0.00001
NM_000484.4(APP):c.1380A>G (p.Arg460=)	rs745834578	0.00001
NM_000484.4(APP):c.1454C>T (p.Pro485Leu)	rs369990738	0.00001
NM_000484.4(APP):c.1651G>A (p.Val551Met)	rs761339914	0.00001
NM_000484.4(APP):c.1789T>G (p.Leu597Val)	rs773379255	0.00001
NM_000484.4(APP):c.1814A>G (p.Glu605Gly)	rs748980864	0.00001
NM_000484.4(APP):c.1995G>C (p.Glu665Asp)	rs63750363	0.00001
NM_000484.4(APP):c.2064+10A>T	rs202051599	0.00001
NM_000484.4(APP):c.2281A>G (p.Thr761Ala)	rs766455623	0.00001
NM_000484.4(APP):c.237A>G (p.Glu79=)	rs886056996	0.00001
NM_000484.4(APP):c.283C>G (p.Gln95Glu)	rs950592627	0.00001
NM_000484.4(APP):c.533A>G (p.Lys178Arg)	rs758637653	0.00001
NM_000484.4(APP):c.618G>A (p.Ser206=)	rs201022619	0.00001
NM_000484.4(APP):c.820A>G (p.Thr274Ala)	rs200159151	0.00001
NM_000484.4(APP):c.964G>A (p.Gly322Ser)	rs866061394	0.00001
NC_000021.8:g.(?_27253981)_(27277409_?)del
NC_000021.8:g.(?_27462239)_(27542938_?)dup
NM_000250.2(MPO):c.1031G>A (p.Gly344Asp)	rs1970460686
NM_000484.4(APP):c.*521T>C	rs2036961192
NM_000484.4(APP):c.*735G>A	rs202132811
NM_000484.4(APP):c.*7G>A	rs201922766
NM_000484.4(APP):c.*810C>T	rs2036941224
NM_000484.4(APP):c.*97C>A	rs886056992
NM_000484.4(APP):c.-111G>T	rs459543
NM_000484.4(APP):c.1000G>C (p.Glu334Gln)
NM_000484.4(APP):c.1018G>T (p.Val340Leu)
NM_000484.4(APP):c.1021_1033+438del
NM_000484.4(APP):c.1035G>T (p.Met345Ile)
NM_000484.4(APP):c.1037C>A (p.Ser346Tyr)	rs1260561215
NM_000484.4(APP):c.1066C>G (p.Pro356Ala)
NM_000484.4(APP):c.1072G>C (p.Ala358Pro)	rs1008281141
NM_000484.4(APP):c.1078_1087delinsC (p.Asp360_Lys363delinsGln)	rs1601155187
NM_000484.4(APP):c.1090+5G>A
NM_000484.4(APP):c.1090C>T (p.Leu364Phe)	rs749453173
NM_000484.4(APP):c.1190G>A (p.Arg397Lys)	rs913378009
NM_000484.4(APP):c.1199C>T (p.Ala400Val)	rs1334791875
NM_000484.4(APP):c.121C>G (p.Leu41Val)	rs886056997
NM_000484.4(APP):c.1264A>C (p.Asn422His)	rs2146575525
NM_000484.4(APP):c.1280A>T (p.Asp427Val)	rs1358953437
NM_000484.4(APP):c.1288G>A (p.Ala430Thr)
NM_000484.4(APP):c.1300-3C>A	rs1342453998
NM_000484.4(APP):c.1345G>A (p.Glu449Lys)
NM_000484.4(APP):c.1366A>G (p.Thr456Ala)
NM_000484.4(APP):c.1369C>T (p.His457Tyr)
NM_000484.4(APP):c.1457G>A (p.Arg486Gln)	rs200268317
NM_000484.4(APP):c.1462C>T (p.Arg488Cys)	rs2146493615
NM_000484.4(APP):c.1475A>G (p.Asn492Ser)
NM_000484.4(APP):c.1498G>A (p.Ala500Thr)
NM_000484.4(APP):c.1530G>C (p.Lys510Asn)	rs767201930
NM_000484.4(APP):c.1570G>A (p.Ala524Thr)
NM_000484.4(APP):c.1587+6C>T
NM_000484.4(APP):c.15G>C (p.Leu5Phe)
NM_000484.4(APP):c.1612T>C (p.Tyr538His)
NM_000484.4(APP):c.1641G>T (p.Leu547=)	rs199860711
NM_000484.4(APP):c.1642C>G (p.Leu548Val)	rs886056994
NM_000484.4(APP):c.1646A>G (p.Tyr549Cys)
NM_000484.4(APP):c.1649A>G (p.Asn550Ser)
NM_000484.4(APP):c.1658C>T (p.Ala553Val)	rs2146488766
NM_000484.4(APP):c.1664C>T (p.Ala555Val)	rs886056993
NM_000484.4(APP):c.1680T>A (p.Asp560Glu)
NM_000484.4(APP):c.1684G>A (p.Val562Ile)	rs199586073
NM_000484.4(APP):c.1748A>G (p.Glu583Gly)	rs778495527
NM_000484.4(APP):c.1750C>G (p.Pro584Ala)
NM_000484.4(APP):c.1754G>A (p.Arg585Lys)	rs1265765015
NM_000484.4(APP):c.1909+5G>A
NM_000484.4(APP):c.1916C>A (p.Pro639His)	rs771964280
NM_000484.4(APP):c.1978A>T (p.Asn660Tyr)	rs770773038
NM_000484.4(APP):c.1979A>G (p.Asn660Ser)
NM_000484.4(APP):c.1988C>T (p.Thr663Met)
NM_000484.4(APP):c.1996A>T (p.Ile666Phe)
NM_000484.4(APP):c.2012T>C (p.Met671Thr)	rs2038161468
NM_000484.4(APP):c.2047G>A (p.Val683Ile)
NM_000484.4(APP):c.205A>G (p.Ile69Val)
NM_000484.4(APP):c.2064+4C>T
NM_000484.4(APP):c.2086G>A (p.Gly696Ser)
NM_000484.4(APP):c.2106C>G (p.Ile702Met)
NM_000484.4(APP):c.2175G>C (p.Lys725Asn)	rs1569014114
NM_000484.4(APP):c.2240G>A (p.Arg747His)
NM_000484.4(APP):c.2253G>C (p.Lys751Asn)	rs1381242897
NM_000484.4(APP):c.225A>G (p.Glu75=)
NM_000484.4(APP):c.226-3C>T
NM_000484.4(APP):c.2267G>A (p.Gly756Asp)	rs2146193044
NM_000484.4(APP):c.2285A>T (p.Tyr762Phe)	rs373482247
NM_000484.4(APP):c.347G>A (p.Arg116His)	rs2061787725
NM_000484.4(APP):c.355+6C>T	rs1555873548
NM_000484.4(APP):c.419G>C (p.Arg140Thr)
NM_000484.4(APP):c.433G>A (p.Glu145Lys)
NM_000484.4(APP):c.446A>G (p.His149Arg)
NM_000484.4(APP):c.468+11A>G	rs886056995
NM_000484.4(APP):c.496C>T (p.His166Tyr)
NM_000484.4(APP):c.534G>T (p.Lys178Asn)
NM_000484.4(APP):c.563C>T (p.Pro188Leu)
NM_000484.4(APP):c.565C>A (p.Leu189Met)
NM_000484.4(APP):c.58-3C>T
NM_000484.4(APP):c.583A>G (p.Asn195Asp)	rs2146905389
NM_000484.4(APP):c.584A>G (p.Asn195Ser)
NM_000484.4(APP):c.634G>A (p.Gly212Arg)
NM_000484.4(APP):c.713AAG[3] (p.Glu241del)	rs754150568
NM_000484.4(APP):c.713AAG[5] (p.Glu241_Ala242insGlu)
NM_000484.4(APP):c.732T>A (p.Asp244Glu)	rs2146780434
NM_000484.4(APP):c.735_746del (p.Asp245_Asp248del)	rs1398952170
NM_000484.4(APP):c.751G>A (p.Gly251Ser)	rs2044360130
NM_000484.4(APP):c.781C>T (p.Pro261Ser)
NM_000484.4(APP):c.803G>A (p.Arg268Lys)	rs1601237753
NM_000484.4(APP):c.809C>T (p.Thr270Ile)
NM_000484.4(APP):c.819CAC[5] (p.Thr279_Thr280del)	rs527890624
NM_000484.4(APP):c.819CAC[9] (p.Thr279_Thr280dup)	rs527890624
NM_000484.4(APP):c.865+3A>G	rs2146779425
NM_000484.4(APP):c.866-3T>C	rs2043232394
NM_000484.4(APP):c.881A>G (p.Gln294Arg)	rs1371336849
NM_000484.4(APP):c.901C>G (p.Arg301Gly)
NM_000484.4(APP):c.966C>G (p.Gly322=)	rs200016837
NM_000484.4(APP):c.976G>A (p.Gly326Ser)
NM_000603.5(NOS3):c.1052C>T (p.Ala351Val)	rs1795021746
NM_001080534.3(UNC13C):c.1326GAA[1] (p.Lys443del)	rs746069739

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