ClinVar Miner

List of variants reported as uncertain significance for Moyamoya syndrome by Invitae

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 126
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HGVS dbSNP
NC_000001.10:g.(?_155880221)_(156109650_?)del
NC_000011.9:g.(?_532626)_(534332_?)dup
NC_000011.9:g.(?_532631)_(532755_?)dup
NC_000011.9:g.(?_532631)_(534375_?)dup
NC_000014.8:g.(?_50092240)_(50698021_?)dup
NM_005343.4(HRAS):c.106A>G (p.Ile36Val) rs1060502663
NM_005343.4(HRAS):c.111+6C>T rs377130570
NM_005343.4(HRAS):c.174_192del (p.Gly60fs) rs878854757
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.178G>A (p.Gly60Ser)
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup) rs1554884966
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) rs730880461
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser) rs1370566417
NM_005343.4(HRAS):c.275A>C (p.Asp92Ala)
NM_005343.4(HRAS):c.290+6C>A rs878854758
NM_005343.4(HRAS):c.290+9C>G
NM_005343.4(HRAS):c.302A>G (p.Lys101Arg) rs1131691997
NM_005343.4(HRAS):c.317C>G (p.Ser106Trp) rs730880462
NM_005343.4(HRAS):c.317C>T (p.Ser106Leu) rs730880462
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) rs727504496
NM_005343.4(HRAS):c.332T>C (p.Met111Thr) rs1564789063
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) rs369106578
NM_005343.4(HRAS):c.368G>C (p.Arg123Pro) rs730880464
NM_005343.4(HRAS):c.382C>T (p.Arg128Trp)
NM_005343.4(HRAS):c.383G>C (p.Arg128Pro) rs1554884794
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) rs1564788957
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter) rs376688893
NM_005343.4(HRAS):c.394G>A (p.Asp132Asn) rs759893630
NM_005343.4(HRAS):c.397C>T (p.Leu133Phe) rs776888712
NM_005343.4(HRAS):c.398T>A (p.Leu133His) rs766801436
NM_005343.4(HRAS):c.401C>T (p.Ala134Val) rs397517141
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) rs397517142
NM_005343.4(HRAS):c.413G>A (p.Gly138Asp) rs1554884772
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser) rs144001095
NM_005343.4(HRAS):c.41T>G (p.Val14Gly)
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu) rs1564788848
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp) rs1554884750
NM_005343.4(HRAS):c.451-3C>T
NM_005343.4(HRAS):c.452G>C (p.Gly151Ala) rs1362209698
NM_005343.4(HRAS):c.45C>T (p.Gly15=) rs727504614
NM_005343.4(HRAS):c.460G>A (p.Asp154Asn) rs745497215
NM_005343.4(HRAS):c.461A>T (p.Asp154Val) rs1434040739
NM_005343.4(HRAS):c.473C>T (p.Thr158Met) rs587778400
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys)
NM_005343.4(HRAS):c.487A>T (p.Ile163Phe) rs1564787934
NM_005343.4(HRAS):c.490C>T (p.Arg164Trp) rs779101895
NM_005343.4(HRAS):c.498C>A (p.His166Gln) rs878854760
NM_005343.4(HRAS):c.4A>G (p.Thr2Ala) rs878854761
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) rs151229168
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) rs142218590
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) rs372936166
NM_005343.4(HRAS):c.518C>T (p.Pro173Leu) rs1171786943
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala)
NM_005343.4(HRAS):c.532G>C (p.Gly178Arg)
NM_005343.4(HRAS):c.538G>A (p.Gly180Ser)
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) rs748639813
NM_005343.4(HRAS):c.552dup (p.Lys185fs) rs1554884418
NM_005343.4(HRAS):c.5C>T (p.Thr2Met)
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe) rs908791453
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) rs537601977
NM_006270.5(RRAS):c.175G>C (p.Asp59His) rs775437600
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln) rs766259420
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn) rs374650566
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter)
NM_006270.5(RRAS):c.454-6C>T rs1568436933
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr)
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs) rs760978291
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp) rs373359206
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) rs754342165
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln)
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) rs1568436746
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg) rs369588682
NM_006270.5(RRAS):c.649C>G (p.Leu217Val) rs988964363
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu)
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser)
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu)
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln)
NM_006912.6(RIT1):c.640_643AAGA[1] (p.Lys215fs) rs766063111
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006939.4(SOS2):c.1146A>G (p.Gln382=) rs1178247373
NM_006939.4(SOS2):c.1868G>A (p.Arg623His) rs138459515
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly) rs369462490
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln) rs768829374
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val) rs1566827698
NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr)
NM_006939.4(SOS2):c.2246A>G (p.Asn749Ser) rs761689009
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn)
NM_006939.4(SOS2):c.2304G>T (p.Gln768His) rs778281839
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)
NM_006939.4(SOS2):c.2384+5A>G rs376903120
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu) rs773672997
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp) rs886041958
NM_006939.4(SOS2):c.257C>T (p.Ala86Val)
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser) rs751419448
NM_006939.4(SOS2):c.2606T>C (p.Val869Ala)
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val)
NM_006939.4(SOS2):c.290G>A (p.Arg97Gln)
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly)
NM_006939.4(SOS2):c.2983A>G (p.Met995Val)
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576
NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln)
NM_006939.4(SOS2):c.3275C>T (p.Pro1092Leu)
NM_006939.4(SOS2):c.3338-4A>G rs777684425
NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys) rs1566815476
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly) rs375478974
NM_006939.4(SOS2):c.3560C>T (p.Pro1187Leu)
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val) rs753151750
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg) rs772587016
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358
NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro) rs1555367637
NM_006939.4(SOS2):c.432G>A (p.Leu144=)
NM_006939.4(SOS2):c.533A>C (p.Gln178Pro) rs1273376869
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623
NM_006939.4(SOS2):c.714T>G (p.Ser238=) rs750665891
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) rs148747022
NM_006939.4(SOS2):c.780G>T (p.Leu260Phe) rs1348457314
NM_006939.4(SOS2):c.839G>C (p.Cys280Ser) rs530007285

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