List of variants reported as pathogenic for cerebral cortex disorder

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

Total variants: 94

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	rs55960271	0.00561
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00338
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser)	rs41291894	0.00076
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)	rs63750082	0.00012
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)	rs63749824	0.00004
NM_032756.4(HPDL):c.3G>C (p.Met1Ile)	rs777607274	0.00003
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_000303.3(PMM2):c.338C>T (p.Pro113Leu)	rs80338700	0.00001
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg)	rs63750512	0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)	rs564185858	0.00001
NM_032756.4(HPDL):c.503G>A (p.Cys168Tyr)	rs1186696459	0.00001
NM_032756.4(HPDL):c.797T>C (p.Ile266Thr)	rs769373772	0.00001
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter)	rs752764598	0.00001
GRCh37/hg19 22q11.21(chr22:18873001-21469900)
NC_000009.12:g.(606181_654801)_831563del
NC_000014.8:g.(?_73673074)_(73673200_?)del
NC_012920.1:m.3243A>G	rs199474657
NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp)	rs1555357544
NM_000021.4(PSEN1):c.1133G>A (p.Gly378Glu)	rs63750323
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.436A>T (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.548G>T (p.Gly183Val)	rs63751068
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_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)	rs730880264
NM_000817.3(GAD1):c.865C>T (p.Gln289Ter)	rs1181224255
NM_001377265.1(MAPT):c.1946A>C (p.Lys649Thr)	rs63750129
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.2135C>T (p.Ser712Phe)	rs63750635
NM_001377265.1(MAPT):c.2282A>T (p.Lys761Ile)	rs63751264
NM_001845.6(COL4A1):c.4114G>C (p.Gly1372Arg)	rs2139149224
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	rs752746786
NM_003072.5(SMARCA4):c.3355C>T (p.Arg1119Cys)	rs2090378511
NM_006009.4(TUBA1A):c.50G>A (p.Gly17Asp)	rs2121248568
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)	rs587777428
NM_014946.4(SPAST):c.1099-4371_1245+1010del
NM_015474.4(SAMHD1):c.109G>T (p.Glu37Ter)	rs1684124082
NM_016824.5(ADD3):c.[1588G>A;86A>G]
NM_022474.4(PALS1):c.1289A>G (p.Glu430Gly)	rs2085184370
NM_032756.4(HPDL):c.1024C>T (p.Gln342Ter)	rs1644265859
NM_032756.4(HPDL):c.232G>A (p.Ala78Thr)	rs1360472871
NM_032756.4(HPDL):c.256del (p.Ala86fs)	rs753787033
NM_032756.4(HPDL):c.342_343insTGCC (p.Ala115fs)	rs1644248782
NM_032756.4(HPDL):c.353dup (p.Tyr118Ter)	rs2149081651
NM_032756.4(HPDL):c.527T>C (p.Leu176Pro)	rs773333490
NM_032756.4(HPDL):c.537G>C (p.Trp179Cys)	rs1644253602
NM_032756.4(HPDL):c.599del (p.Gly200fs)	rs1373739660
NM_032756.4(HPDL):c.779G>A (p.Gly260Glu)	rs758290491
NM_032756.4(HPDL):c.954dup (p.Gly319fs)	rs2149082294
NM_182914.3(SYNE2):c.16153C>T (p.Gln5385Ter)	rs2153715439
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.