List of variants reported as likely benign 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: 133

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HGVS	dbSNP	gnomAD frequency
NM_000817.3(GAD1):c.1612-3A>G	rs113828797	0.00179
NM_000817.3(GAD1):c.1184+5C>T	rs188460575	0.00173
NM_000817.3(GAD1):c.1173C>T (p.Asn391=)	rs34856125	0.00094
NM_000817.3(GAD1):c.1251C>T (p.Leu417=)	rs35426017	0.00094
NM_000817.3(GAD1):c.807G>A (p.Pro269=)	rs34100397	0.00094
NM_000817.3(GAD1):c.1611+5G>A	rs147201199	0.00070
NM_000817.3(GAD1):c.1002+4T>G	rs139531653	0.00060
NM_000817.3(GAD1):c.399T>C (p.Asp133=)	rs112737041	0.00058
NM_000817.3(GAD1):c.682A>C (p.Ile228Leu)	rs45566933	0.00040
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=)	rs116640707	0.00037
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)	rs63750592	0.00030
NM_000817.3(GAD1):c.1773C>A (p.Gly591=)	rs202061730	0.00020
NM_000021.4(PSEN1):c.711T>C (p.Phe237=)	rs750352441	0.00016
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala)	rs200373970	0.00015
NM_000817.3(GAD1):c.80C>A (p.Thr27Lys)	rs77655188	0.00015
NM_000817.3(GAD1):c.146-16G>T	rs375708573	0.00013
NM_000021.4(PSEN1):c.234C>T (p.Gly78=)	rs143782428	0.00012
NM_000817.3(GAD1):c.1120-8C>A	rs113638388	0.00011
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)	rs201496204	0.00009
NM_000021.4(PSEN1):c.366C>T (p.Thr122=)	rs201644344	0.00008
NM_000021.4(PSEN1):c.480+17G>A	rs375376095	0.00008
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly)	rs121917809	0.00008
NM_000817.3(GAD1):c.381T>C (p.Tyr127=)	rs144952710	0.00008
NM_000021.4(PSEN1):c.1347A>G (p.Thr449=)	rs199632597	0.00006
NM_000021.4(PSEN1):c.909G>A (p.Pro303=)	rs377053325	0.00006
NM_000021.4(PSEN1):c.459G>T (p.Leu153=)	rs753457678	0.00004
NM_000817.3(GAD1):c.1338C>T (p.Tyr446=)	rs368382588	0.00004
NM_000817.3(GAD1):c.639-9C>A	rs568985468	0.00004
NM_000021.4(PSEN1):c.1311C>T (p.Ile437=)	rs201453174	0.00002
NM_000021.4(PSEN1):c.501T>C (p.Ile167=)	rs199637432	0.00002
NM_000021.4(PSEN1):c.813G>T (p.Leu271=)	rs757698754	0.00002
NM_000817.3(GAD1):c.1095A>G (p.Lys365=)	rs188421952	0.00002
NM_000817.3(GAD1):c.146-19C>T	rs371063297	0.00002
NM_000817.3(GAD1):c.1743C>T (p.Asp581=)	rs1317143621	0.00002
NM_000817.3(GAD1):c.39G>T (p.Ser13=)	rs929172235	0.00002
NM_000021.4(PSEN1):c.161G>A (p.Arg54Gln)	rs201216284	0.00001
NM_000021.4(PSEN1):c.264T>C (p.Pro88=)	rs201113902	0.00001
NM_000021.4(PSEN1):c.339A>G (p.Leu113=)	rs1382127121	0.00001
NM_000021.4(PSEN1):c.798T>A (p.Gly266=)	rs752833058	0.00001
NM_000021.4(PSEN1):c.801A>G (p.Pro267=)	rs758814165	0.00001
NM_000021.4(PSEN1):c.956-20A>C	rs763638380	0.00001
NM_000817.3(GAD1):c.1140G>C (p.Leu380=)	rs777210775	0.00001
NM_000817.3(GAD1):c.1443C>T (p.Asn481=)	rs376911115	0.00001
NM_000817.3(GAD1):c.145+9C>T	rs780023152	0.00001
NM_000817.3(GAD1):c.146-15C>A	rs751440255	0.00001
NM_000817.3(GAD1):c.1521+15T>C	rs368040195	0.00001
NM_000817.3(GAD1):c.1557A>G (p.Pro519=)	rs751929630	0.00001
NM_000817.3(GAD1):c.1612-8A>G	rs745826552	0.00001
NM_000817.3(GAD1):c.1731G>A (p.Gln577=)	rs1406741140	0.00001
NM_000817.3(GAD1):c.1758G>A (p.Glu586=)	rs749549342	0.00001
NM_000817.3(GAD1):c.213A>G (p.Gln71=)	rs201580970	0.00001
NM_000817.3(GAD1):c.591T>C (p.Ile197=)	rs758038896	0.00001
NM_000817.3(GAD1):c.624G>A (p.Thr208=)	rs781046977	0.00001
NM_000817.3(GAD1):c.819A>G (p.Thr273=)	rs754014995	0.00001
NM_000817.3(GAD1):c.868-19G>A	rs780279882	0.00001
NM_000021.4(PSEN1):c.-136+213G>A	rs199959804
NM_000021.4(PSEN1):c.1005G>T (p.Gly335=)
NM_000021.4(PSEN1):c.1055G>A (p.Arg352His)
NM_000021.4(PSEN1):c.1063C>T (p.Pro355Ser)	rs376433615
NM_000021.4(PSEN1):c.1071A>G (p.Ser357=)
NM_000021.4(PSEN1):c.1107C>T (p.Leu369=)
NM_000021.4(PSEN1):c.1130-13del
NM_000021.4(PSEN1):c.177C>A (p.Ser59=)
NM_000021.4(PSEN1):c.177C>T (p.Ser59=)	rs201998552
NM_000021.4(PSEN1):c.213G>A (p.Glu71=)	rs762907738
NM_000021.4(PSEN1):c.234C>A (p.Gly78=)
NM_000021.4(PSEN1):c.255C>A (p.Leu85=)
NM_000021.4(PSEN1):c.426C>T (p.Val142=)
NM_000021.4(PSEN1):c.435C>T (p.Val145=)	rs202090424
NM_000021.4(PSEN1):c.468C>T (p.Tyr156=)
NM_000021.4(PSEN1):c.480+20C>T
NM_000021.4(PSEN1):c.481-13C>T
NM_000021.4(PSEN1):c.537C>T (p.Phe179=)
NM_000021.4(PSEN1):c.548+13A>G
NM_000021.4(PSEN1):c.549-19C>A	rs201724748
NM_000021.4(PSEN1):c.774A>G (p.Leu258=)
NM_000021.4(PSEN1):c.792G>A (p.Pro264=)
NM_000021.4(PSEN1):c.792G>T (p.Pro264=)	rs150301281
NM_000021.4(PSEN1):c.868+16_868+21del
NM_000021.4(PSEN1):c.87+11_87+14dup
NM_000021.4(PSEN1):c.88-7C>T	rs1594997672
NM_000021.4(PSEN1):c.906C>T (p.Asp302=)
NM_000021.4(PSEN1):c.955+11T>G
NM_000021.4(PSEN1):c.955+16T>G
NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)
NM_000817.3(GAD1):c.1002+11C>T
NM_000817.3(GAD1):c.1003-10del
NM_000817.3(GAD1):c.1003-20A>G
NM_000817.3(GAD1):c.1120-11T>C	rs2105803929
NM_000817.3(GAD1):c.1120-9T>A
NM_000817.3(GAD1):c.114A>T (p.Gly38=)
NM_000817.3(GAD1):c.1185-18C>T
NM_000817.3(GAD1):c.1224C>G (p.Gly408=)
NM_000817.3(GAD1):c.1224C>T (p.Gly408=)
NM_000817.3(GAD1):c.1252G>A (p.Val418Ile)	rs143058194
NM_000817.3(GAD1):c.1263+10C>T
NM_000817.3(GAD1):c.1263+11C>A	rs1231630904
NM_000817.3(GAD1):c.1263+8C>T
NM_000817.3(GAD1):c.1323G>A (p.Gln441=)
NM_000817.3(GAD1):c.1413+9G>A
NM_000817.3(GAD1):c.1414-9T>C
NM_000817.3(GAD1):c.145+15C>T
NM_000817.3(GAD1):c.1452G>A (p.Leu484=)	rs764128869
NM_000817.3(GAD1):c.1467C>T (p.Tyr489=)
NM_000817.3(GAD1):c.1521+17G>C	rs747607536
NM_000817.3(GAD1):c.1566C>A (p.Leu522=)
NM_000817.3(GAD1):c.1569G>A (p.Arg523=)
NM_000817.3(GAD1):c.1611+12C>G
NM_000817.3(GAD1):c.1612-15G>A	rs1702920125
NM_000817.3(GAD1):c.1722C>T (p.Ala574=)	rs1702922977
NM_000817.3(GAD1):c.1728C>A (p.Thr576=)
NM_000817.3(GAD1):c.18A>G (p.Pro6=)
NM_000817.3(GAD1):c.198C>T (p.Ala66=)	rs1575430287
NM_000817.3(GAD1):c.304+14C>G	rs1365697142
NM_000817.3(GAD1):c.304+18C>G
NM_000817.3(GAD1):c.304+20C>T
NM_000817.3(GAD1):c.305-10C>T	rs1384888005
NM_000817.3(GAD1):c.315G>T (p.Pro105=)	rs112067895
NM_000817.3(GAD1):c.321G>A (p.Lys107=)	rs549653544
NM_000817.3(GAD1):c.405C>T (p.Ser135=)
NM_000817.3(GAD1):c.429C>T (p.His143=)
NM_000817.3(GAD1):c.477T>C (p.Ser159=)
NM_000817.3(GAD1):c.486C>T (p.Pro162=)
NM_000817.3(GAD1):c.493C>T (p.Leu165=)
NM_000817.3(GAD1):c.51G>A (p.Ala17=)
NM_000817.3(GAD1):c.633C>T (p.Thr211=)
NM_000817.3(GAD1):c.705G>A (p.Glu235=)
NM_000817.3(GAD1):c.751+20del
NM_000817.3(GAD1):c.83-5C>T
NM_000817.3(GAD1):c.83-7del
NM_000817.3(GAD1):c.846G>T (p.Leu282=)	rs2105799494
NM_000817.3(GAD1):c.867+14G>A
NM_000817.3(GAD1):c.867+18T>C

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