List of variants reported as pathogenic for GRN-related frontotemporal lobar degeneration with Tdp43 inclusions by Invitae

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

Total variants: 113

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HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)	rs63750082	0.00012
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile)	rs63750869	0.00006
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)	rs63749824	0.00004
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)	rs63750424	0.00002
NM_000021.4(PSEN1):c.806G>A (p.Arg269His)	rs63750900	0.00001
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg)	rs63750512	0.00001
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs)	rs1598364961	0.00001
NM_002087.4(GRN):c.1145del (p.Thr382fs)	rs63750805	0.00001
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter)	rs63751294	0.00001
NM_002087.4(GRN):c.2T>C (p.Met1Thr)	rs63751006	0.00001
NM_002087.4(GRN):c.708+1G>A	rs63749817	0.00001
NC_000014.8:g.(?_73673074)_(73673200_?)del
NC_000017.10:g.(?_42426434)_(42430018_?)del
NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp)	rs1555357544
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val)	rs63751416
NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro)	rs63750218
NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val)	rs63750929
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)	rs661
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)	rs63751316
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)	rs63750083
NM_000021.4(PSEN1):c.250A>G (p.Met84Val)
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)	rs63750450
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)	rs63750730
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile)	rs63750730
NM_000021.4(PSEN1):c.349C>T (p.Pro117Ser)	rs63750550
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)	rs63751278
NM_000021.4(PSEN1):c.415A>G (p.Met139Val)	rs63751037
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)	rs63750004
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu)	rs63750306
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)	rs63750391
NM_000021.4(PSEN1):c.476A>T (p.Tyr159Phe)
NM_000021.4(PSEN1):c.488A>G (p.His163Arg)	rs63750590
NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu)	rs63751210
NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro)	rs63750963
NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser)	rs63749806
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp)	rs63750311
NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp)	rs63750082
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val)	rs63750053
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr)	rs1555355250
NM_000021.4(PSEN1):c.640C>A (p.His214Asn)	rs63751003
NM_000021.4(PSEN1):c.697A>G (p.Met233Val)	rs63751287
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)	rs63750526
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu)	rs1362575880
NM_000021.4(PSEN1):c.750G>T (p.Leu250Phe)	rs1898781850
NM_000021.4(PSEN1):c.766T>A (p.Tyr256Asn)
NM_000021.4(PSEN1):c.779C>T (p.Ala260Val)	rs63751420
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu)	rs63750301
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)	rs63750886
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile)	rs63749891
NM_000021.4(PSEN1):c.838G>A (p.Glu280Lys)	rs2140105309
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)	rs63750231
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly)	rs63750231
NM_000021.4(PSEN1):c.845T>C (p.Leu282Pro)
NM_000021.4(PSEN1):c.869-1G>A	rs63750219
NM_000021.4(PSEN1):c.869-2A>G
NM_000021.4(PSEN1):c.869-2A>T	rs1566650594
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val)	rs63750349
NM_001377265.1(MAPT):c.1999-10G>T	rs63749974
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)	rs63750756
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)	rs63751273
NM_001377265.1(MAPT):c.2091+16C>T	rs63751011
NM_001377265.1(MAPT):c.2185G>A (p.Val729Met)	rs63750570
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs)	rs63749905
NM_002087.4(GRN):c.102del (p.Gly35fs)	rs63751073
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter)	rs1555611293
NM_002087.4(GRN):c.1153del (p.Glu385fs)	rs2143342203
NM_002087.4(GRN):c.1158G>A (p.Trp386Ter)
NM_002087.4(GRN):c.1179+3A>G
NM_002087.4(GRN):c.118_121dup (p.Cys41Ter)
NM_002087.4(GRN):c.1216C>T (p.Gln406Ter)	rs2143344360
NM_002087.4(GRN):c.1227del (p.Cys410fs)
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)	rs63751180
NM_002087.4(GRN):c.128_129insCC (p.Pro44fs)
NM_002087.4(GRN):c.1317_1318del (p.Asp441fs)
NM_002087.4(GRN):c.138+1G>A	rs63749844
NM_002087.4(GRN):c.1414-2A>G	rs1555611412
NM_002087.4(GRN):c.1492_1495del (p.Glu498fs)
NM_002087.4(GRN):c.180dup (p.Cys61fs)
NM_002087.4(GRN):c.1A>G (p.Met1Val)	rs746037872
NM_002087.4(GRN):c.234_235del (p.Gly79fs)	rs63750373
NM_002087.4(GRN):c.264+1del
NM_002087.4(GRN):c.265-2del
NM_002087.4(GRN):c.26C>A (p.Ala9Asp)	rs63751243
NM_002087.4(GRN):c.295_308del (p.Cys99fs)
NM_002087.4(GRN):c.299del (p.Pro100fs)	rs2048353899
NM_002087.4(GRN):c.328C>T (p.Arg110Ter)	rs63750411
NM_002087.4(GRN):c.349+1G>C	rs1598363083
NM_002087.4(GRN):c.383_386del (p.Asp128fs)	rs2048359069
NM_002087.4(GRN):c.388C>T (p.Gln130Ter)
NM_002087.4(GRN):c.388_391del (p.Gln130fs)	rs63749801
NM_002087.4(GRN):c.39dup (p.Leu14fs)	rs2143325096
NM_002087.4(GRN):c.468_474del (p.Cys157fs)	rs63750247
NM_002087.4(GRN):c.472_496dup (p.Pro166delinsLeuTer)
NM_002087.4(GRN):c.592_593del (p.Arg198fs)	rs1555611136
NM_002087.4(GRN):c.5G>A (p.Trp2Ter)
NM_002087.4(GRN):c.614C>A (p.Ser205Ter)	rs777211749
NM_002087.4(GRN):c.675_676del (p.Ser226fs)	rs63751085
NM_002087.4(GRN):c.708+1G>C	rs63749817
NM_002087.4(GRN):c.708+6_708+9del	rs778599933
NM_002087.4(GRN):c.709-2A>G	rs63750548
NM_002087.4(GRN):c.711del (p.Thr238fs)
NM_002087.4(GRN):c.768_769dup (p.Gln257fs)	rs1567887004
NM_002087.4(GRN):c.775_778del (p.Lys259fs)	rs2143337849
NM_002087.4(GRN):c.784_787del (p.Ser262fs)
NM_002087.4(GRN):c.80dup (p.Val28fs)	rs1392550887
NM_002087.4(GRN):c.813_816del (p.Thr272fs)	rs63749877
NM_002087.4(GRN):c.836-1G>C	rs63751296
NM_002087.4(GRN):c.87dup (p.Cys30fs)	rs794729672
NM_002087.4(GRN):c.898C>T (p.Gln300Ter)	rs1555611253
NM_002087.4(GRN):c.910_911dup (p.Trp304fs)
NM_002087.4(GRN):c.911G>A (p.Trp304Ter)	rs63751177
NM_002087.4(GRN):c.991C>T (p.Gln331Ter)	rs1567887496

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