List of variants reported as pathogenic for cerebrovascular disorder

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

Total variants: 98

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HGVS	dbSNP	gnomAD frequency
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)	rs112735431	0.00004
NM_001130682.3(GUCY1A1):c.1045C>T (p.Arg349Ter)	rs587777321	0.00001
NM_001130682.3(GUCY1A1):c.1086+1G>T	rs587777320	0.00001
NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter)	rs373182378	0.00001
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn)	rs397514563	0.00001
NM_001256071.3(RNF213):c.12391C>T (p.Arg4131Cys)	rs556513891	0.00001
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala)	rs775440641	0.00001
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys)	rs121434528	0.00001
NM_001846.4(COL4A2):c.1776+1G>A	rs886039602	0.00001
GRCh37/hg19 Xq28(chrX:154305031-154307464)
NC_000021.7:g.13636378_28138533dup
NC_012920.1:m.3243A>G	rs199474657
NM_000099.4(CST3):c.281T>A (p.Leu94Gln)	rs28939068
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys)	rs797045014
NM_000484.4(APP):c.2075C>G (p.Ala692Gly)	rs63750671
NM_000484.4(APP):c.2077G>A (p.Glu693Lys)	rs63750579
NM_000484.4(APP):c.2077G>C (p.Glu693Gln)	rs63750579
NM_000484.4(APP):c.2078A>G (p.Glu693Gly)	rs63751039
NM_000484.4(APP):c.2080G>A (p.Asp694Asn)	rs63749810
NM_000484.4(APP):c.2149G>A (p.Val717Ile)	rs63750264
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_001001548.3(CD36):c.120+1G>A
NM_001130682.3(GUCY1A1):c.1086+1G>A	rs587777320
NM_001130682.3(GUCY1A1):c.1170del (p.Glu391fs)	rs587777322
NM_001130682.3(GUCY1A1):c.1422del (p.Lys475fs)
NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr)	rs751701114
NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter)	rs1368733883
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs)	rs781020381
NM_001256071.3(RNF213):c.12353C>T (p.Ser4118Phe)	rs2079443410
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn)	rs768740459
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)	rs112602953
NM_001613.4(ACTA2):c.536G>A (p.Arg179His)	rs387906592
NM_001613.4(ACTA2):c.773G>A (p.Arg258His)	rs121434527
NM_001845.6(COL4A1):c.*31G>T	rs2138415342
NM_001845.6(COL4A1):c.*32G>A	rs1876439052
NM_001845.6(COL4A1):c.*32G>T	rs1876439052
NM_001845.6(COL4A1):c.*35C>A	rs1876438936
NM_001845.6(COL4A1):c.1353dup (p.Gly452fs)	rs1594568948
NM_001845.6(COL4A1):c.155G>A (p.Gly52Asp)
NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu)	rs121912857
NM_001845.6(COL4A1):c.1A>T (p.Met1Leu)	rs113994103
NM_001845.6(COL4A1):c.2085del (p.Gly696fs)	rs606231464
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)	rs587780588
NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg)	rs672601349
NM_001845.6(COL4A1):c.2153_2154dup (p.Asn719fs)
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp)	rs113994108
NM_001845.6(COL4A1):c.2194-1G>A	rs606231465
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val)	rs1057523354
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser)	rs113994109
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg)	rs672601346
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)	rs672601347
NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg)	rs672601347
NM_001845.6(COL4A1):c.2458+1G>A	rs1878012979
NM_001845.6(COL4A1):c.2458+1G>C	rs1878012979
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)	rs797044867
NM_001845.6(COL4A1):c.2608G>A (p.Gly870Arg)	rs1877962670
NM_001845.6(COL4A1):c.2870G>C (p.Gly957Ala)
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg)	rs1566351456
NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val)	rs1555302922
NM_001845.6(COL4A1):c.3139G>C (p.Gly1047Arg)
NM_001845.6(COL4A1):c.3353G>A (p.Gly1118Asp)	rs1566349690
NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp)	rs113994111
NM_001845.6(COL4A1):c.3407-2del	rs2139159594
NM_001845.6(COL4A1):c.3556+54_3877-1090del
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg)	rs113994112
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg)	rs1085307709
NM_001845.6(COL4A1):c.3742+1G>A	rs2139156007
NM_001845.6(COL4A1):c.3761G>A (p.Gly1254Glu)	rs2139154554
NM_001845.6(COL4A1):c.388-1G>C	rs766209938
NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg)	rs587777379
NM_001845.6(COL4A1):c.4250-1G>A	rs2139146298
NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg)	rs113994113
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter)	rs1594535661
NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg)	rs113994114
NM_001845.6(COL4A1):c.4843G>A (p.Glu1615Lys)	rs1876543576
NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys)	rs672601348
NM_001845.6(COL4A1):c.4887C>G (p.Tyr1629Ter)	rs542803991
NM_001845.6(COL4A1):c.625G>A (p.Gly209Ser)
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser)	rs878853070
NM_001845.6(COL4A1):c.665T>G (p.Leu222Ter)
NM_001846.4(COL4A2):c.1011+1G>A	rs1220432347
NM_001846.4(COL4A2):c.3110G>A (p.Gly1037Glu)	rs387906603
NM_001846.4(COL4A2):c.316-1G>C	rs1566525717
NM_001846.4(COL4A2):c.3455G>A (p.Gly1152Asp)	rs387906602
NM_001846.4(COL4A2):c.4129G>A (p.Gly1377Arg)	rs1594113653
NM_002775.5(HTRA1):c.184_185del (p.Cys62fs)
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	rs121913279
NM_012330.4(KAT6B):c.5040C>G (p.Tyr1680Ter)	rs369027010
NM_018043.7(ANO1):c.1972A>G (p.Met658Val)
NM_018043.7(ANO1):c.2219C>T (p.Thr740Ile)
NM_018043.7(ANO1):c.508G>A (p.Glu170Lys)
NM_018676.4(THSD1):c.1348C>T (p.Arg450Ter)	rs1594095223
NM_021999.5(ITM2B):c.787_796dup (p.Ser266fs)	rs606231166
NM_021999.5(ITM2B):c.799T>A (p.Ter267Arg)	rs104894417
NM_024656.4(COLGALT1):c.1096del (p.Glu366fs)	rs1568481204
NM_024656.4(COLGALT1):c.1129G>C (p.Gly377Arg)	rs1568481244
NM_024656.4(COLGALT1):c.452T>G (p.Leu151Arg)	rs1478523191
NM_024656.4(COLGALT1):c.460G>C (p.Ala154Pro)	rs181844791

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