List of variants reported as uncertain significance for cerebral cortex disorder by Invitae

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 116

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HGVS	dbSNP	gnomAD frequency
NM_000817.3(GAD1):c.484C>G (p.Pro162Ala)	rs145603819	0.00045
NM_000817.3(GAD1):c.380A>T (p.Tyr127Phe)	rs141004978	0.00036
NM_000817.3(GAD1):c.269G>A (p.Arg90His)	rs372095902	0.00011
NM_000817.3(GAD1):c.249C>A (p.Asp83Glu)	rs201750984	0.00010
NM_000817.3(GAD1):c.203A>G (p.Lys68Arg)	rs112605975	0.00008
NM_000817.3(GAD1):c.268C>T (p.Arg90Cys)	rs373042715	0.00008
NM_000021.4(PSEN1):c.337C>T (p.Leu113=)	rs201500006	0.00006
NM_000817.3(GAD1):c.177G>C (p.Glu59Asp)	rs138838552	0.00005
NM_000817.3(GAD1):c.385C>A (p.Arg129Ser)	rs779472420	0.00005
NM_000021.4(PSEN1):c.566A>G (p.Tyr189Cys)	rs556147068	0.00004
NM_000021.4(PSEN1):c.932A>G (p.Lys311Arg)	rs115865530	0.00004
NM_000817.3(GAD1):c.1184+6G>A	rs755825439	0.00004
NM_000817.3(GAD1):c.34T>A (p.Ser12Thr)	rs149074954	0.00004
NM_000817.3(GAD1):c.830C>T (p.Ala277Val)	rs143319979	0.00004
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)	rs199715992	0.00003
NM_000817.3(GAD1):c.266G>A (p.Arg89Gln)	rs201233553	0.00003
NM_000817.3(GAD1):c.1519G>A (p.Glu507Lys)	rs780328766	0.00002
NM_000817.3(GAD1):c.251G>A (p.Arg84Gln)	rs200092679	0.00002
NM_000817.3(GAD1):c.896C>T (p.Ala299Val)	rs762950875	0.00002
NM_000021.4(PSEN1):c.1034A>G (p.Asp345Gly)	rs1018763711	0.00001
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr)	rs63750227	0.00001
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val)	rs1398951357	0.00001
NM_000021.4(PSEN1):c.178C>T (p.Arg60Trp)	rs777427451	0.00001
NM_000021.4(PSEN1):c.280G>A (p.Val94Met)	rs63750831	0.00001
NM_000021.4(PSEN1):c.370A>G (p.Thr124Ala)	rs771002035	0.00001
NM_000021.4(PSEN1):c.442A>G (p.Ile148Val)	rs747363386	0.00001
NM_000021.4(PSEN1):c.571G>A (p.Val191Ile)	rs750585566	0.00001
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu)	rs543391977	0.00001
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln)	rs763831389	0.00001
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys)	rs886050663	0.00001
NM_000817.3(GAD1):c.1334C>T (p.Ser445Phe)	rs1169710215	0.00001
NM_000817.3(GAD1):c.1652C>T (p.Thr551Met)	rs762878619	0.00001
NM_000817.3(GAD1):c.1723G>A (p.Ala575Thr)	rs527691350	0.00001
NM_000817.3(GAD1):c.54C>A (p.Asp18Glu)	rs758731063	0.00001
NM_000817.3(GAD1):c.638+10A>G	rs769537621	0.00001
NM_000021.4(PSEN1):c.1003G>A (p.Gly335Arg)	rs138871096
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro)	rs63751174
NM_000021.4(PSEN1):c.1081G>C (p.Val361Leu)	rs1019919048
NM_000021.4(PSEN1):c.1087G>C (p.Glu363Gln)
NM_000021.4(PSEN1):c.1094C>T (p.Ser365Phe)
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp)	rs1566656647
NM_000021.4(PSEN1):c.1156T>G (p.Phe386Val)
NM_000021.4(PSEN1):c.1184A>T (p.Lys395Ile)
NM_000021.4(PSEN1):c.118_120del (p.Asp40del)	rs759538127
NM_000021.4(PSEN1):c.1223T>C (p.Ile408Thr)
NM_000021.4(PSEN1):c.123A>T (p.Arg41Ser)
NM_000021.4(PSEN1):c.1240A>G (p.Ile414Val)	rs777734426
NM_000021.4(PSEN1):c.1249-6C>A
NM_000021.4(PSEN1):c.124C>G (p.Arg42Gly)
NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln)	rs367775281
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)
NM_000021.4(PSEN1):c.1319C>A (p.Thr440Asn)	rs1900050658
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val)	rs1430581353
NM_000021.4(PSEN1):c.256T>C (p.Phe86Leu)
NM_000021.4(PSEN1):c.262C>A (p.Pro88Thr)	rs1897874234
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser)	rs1007193620
NM_000021.4(PSEN1):c.308_310del (p.Val103_Ser104delinsGly)
NM_000021.4(PSEN1):c.323G>A (p.Arg108Gln)
NM_000021.4(PSEN1):c.352T>G (p.Phe118Val)
NM_000021.4(PSEN1):c.367G>C (p.Glu123Gln)	rs63750378
NM_000021.4(PSEN1):c.392A>G (p.His131Arg)
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)	rs1595002439
NM_000021.4(PSEN1):c.466T>C (p.Tyr156His)
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His)	rs1897961716
NM_000021.4(PSEN1):c.481G>A (p.Val161Ile)	rs1898533490
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser)	rs1898533739
NM_000021.4(PSEN1):c.491C>A (p.Ala164Asp)
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del)
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr)	rs63750577
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro)	rs63750155
NM_000021.4(PSEN1):c.550G>A (p.Glu184Lys)
NM_000021.4(PSEN1):c.560A>C (p.Lys187Thr)	rs2140093212
NM_000021.4(PSEN1):c.592G>C (p.Val198Leu)
NM_000021.4(PSEN1):c.667C>A (p.Gln223Lys)	rs1898776259
NM_000021.4(PSEN1):c.679A>C (p.Ile227Leu)
NM_000021.4(PSEN1):c.679A>G (p.Ile227Val)
NM_000021.4(PSEN1):c.768T>C (p.Tyr256=)
NM_000021.4(PSEN1):c.808A>G (p.Met270Val)
NM_000021.4(PSEN1):c.808_810dup (p.Met270_Leu271insMet)
NM_000021.4(PSEN1):c.809T>C (p.Met270Thr)	rs1899028511
NM_000021.4(PSEN1):c.821C>G (p.Thr274Arg)	rs63750284
NM_000021.4(PSEN1):c.842C>T (p.Thr281Met)
NM_000021.4(PSEN1):c.869-3C>A	rs2140125016
NM_000021.4(PSEN1):c.871A>G (p.Thr291Ala)
NM_000021.4(PSEN1):c.876G>C (p.Met292Ile)
NM_000021.4(PSEN1):c.895G>T (p.Ala299Ser)
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala)	rs1594750510
NM_000021.4(PSEN1):c.908C>T (p.Pro303Leu)
NM_000021.4(PSEN1):c.918A>C (p.Gln306His)	rs1256981707
NM_000021.4(PSEN1):c.936T>G (p.Asn312Lys)
NM_000021.4(PSEN1):c.955A>T (p.Ser319Cys)	rs2140125296
NM_000817.3(GAD1):c.1002+4T>C
NM_000817.3(GAD1):c.103G>A (p.Val35Met)
NM_000817.3(GAD1):c.1159C>T (p.Arg387Cys)
NM_000817.3(GAD1):c.1251_1252delinsTT (p.Val418Phe)	rs1575445561
NM_000817.3(GAD1):c.1252G>T (p.Val418Phe)	rs143058194
NM_000817.3(GAD1):c.1259A>G (p.Glu420Gly)
NM_000817.3(GAD1):c.1263+6T>A
NM_000817.3(GAD1):c.1265G>A (p.Gly422Asp)	rs965039416
NM_000817.3(GAD1):c.1525G>C (p.Glu509Gln)	rs1381723796
NM_000817.3(GAD1):c.1594C>T (p.Arg532Trp)
NM_000817.3(GAD1):c.1638G>C (p.Met546Ile)	rs1702920979
NM_000817.3(GAD1):c.1672C>G (p.Pro558Ala)
NM_000817.3(GAD1):c.167G>T (p.Ser56Ile)
NM_000817.3(GAD1):c.1702A>T (p.Met568Leu)
NM_000817.3(GAD1):c.1747C>T (p.Leu583Phe)	rs1208499139
NM_000817.3(GAD1):c.236G>A (p.Cys79Tyr)	rs2105775770
NM_000817.3(GAD1):c.326G>C (p.Gly109Ala)	rs1228823911
NM_000817.3(GAD1):c.331G>A (p.Glu111Lys)	rs2105778312
NM_000817.3(GAD1):c.382G>A (p.Val128Ile)	rs1702206902
NM_000817.3(GAD1):c.38C>T (p.Ser13Leu)
NM_000817.3(GAD1):c.449G>T (p.Gly150Val)	rs2105778502
NM_000817.3(GAD1):c.61A>G (p.Thr21Ala)
NM_000817.3(GAD1):c.757G>A (p.Ala253Thr)	rs2105799342
NM_000817.3(GAD1):c.885G>C (p.Lys295Asn)	rs2105799723
NM_000817.3(GAD1):c.962C>T (p.Pro321Leu)

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