ClinVar Miner

List of variants reported as pathogenic for Moyamoya syndrome by GeneReviews

Included ClinVar conditions (50):
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ClinVar version:
Total variants: 67
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HGVS dbSNP
LRG_281t1:c.(Exons12-16del)
NC_000020.11:g.(36898545_36904156)_(36951644_?)del
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_002524.4(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.4(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.4(NRAS):c.179G>A (p.Gly60Glu) rs267606920
NM_002524.4(NRAS):c.71T>A (p.Ile24Asn) rs869025573
NM_002834.3(PTPN11):c.179_181delGTG (p.Gly60del) rs80338836
NM_002834.4(PTPN11):c.181_183del (p.Asp61del) rs869025574
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_004333.4(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.4(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.5(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.5(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_006397.2(RNASEH2A):c.109G>A (p.Gly37Ser) rs76857106
NM_006397.2(RNASEH2A):c.207_208insG (p.Thr70Aspfs) rs77672568
NM_006397.2(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.2(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971
NM_006397.2(RNASEH2A):c.690C>A (p.Phe230Leu) rs79767407
NM_006397.2(RNASEH2A):c.69G>A (p.Val23=) rs397515480
NM_006397.2(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910
NM_006397.2(RNASEH2A):c.716_717dupGC (p.Thr240Alafs) rs78705193
NM_006397.2(RNASEH2A):c.719C>T (p.Thr240Met) rs79843600
NM_006397.2(RNASEH2A):c.75C>T (p.Arg25=) rs397515479
NM_006397.2(RNASEH2A):c.872G>A (p.Arg291His) rs75037667
NM_015474.3(SAMHD1):c.-6085_209-1941del
NM_015474.3(SAMHD1):c.1106T>C (p.Leu369Ser) rs515726139
NM_015474.3(SAMHD1):c.1153A>G (p.Met385Val) rs515726140
NM_015474.3(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.3(SAMHD1):c.1411-2A>G rs515726141
NM_015474.3(SAMHD1):c.1503+1G>T rs515726142
NM_015474.3(SAMHD1):c.1609-1G>C rs515726143
NM_015474.3(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519
NM_015474.3(SAMHD1):c.359_370del (p.Asp120_His123del) rs515726144
NM_015474.3(SAMHD1):c.368A>C (p.His123Pro) rs121434520
NM_015474.3(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948
NM_015474.3(SAMHD1):c.428G>A (p.Arg143His) rs369035155
NM_015474.3(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517
NM_015474.3(SAMHD1):c.434G>A (p.Arg145Gln) rs515726145
NM_015474.3(SAMHD1):c.445C>T (p.Gln149Ter) rs121434518
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_015474.3(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516
NM_015474.3(SAMHD1):c.649_650insG (p.Phe217Cysfs) rs515726146
NM_015474.3(SAMHD1):c.760A>G (p.Met254Val) rs121434521
NM_016381.5(TREX1):c.764_766dupATG (p.Asp255dup) rs74556809
NM_033629.2(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.2(TREX1):c.490C>T (p.Arg164Ter) rs78218009
NM_033629.2(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.4(TREX1):c.365T>C (p.Val122Ala) rs79993407
NM_033629.4(TREX1):c.397delC (p.Leu133Cysfs) rs78762691
NM_033629.4(TREX1):c.500delG (p.Ser167Thrfs) rs76642637
NM_033629.4(TREX1):c.868_885del18 (p.Pro290_Ala295del) rs79318303
NM_033629.4(TREX1):c.907A>C (p.Thr303Pro) rs76224909
NM_033629.5(TREX1):c.393_408dup (p.Glu137Profs) rs74876396
NM_033629.5(TREX1):c.598G>A (p.Asp200Asn) rs78846775
NM_033629.5(TREX1):c.602T>A (p.Val201Asp) rs78408272
NM_033629.5(TREX1):c.609_662dup (p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla) rs78379807
NM_033629.6(TREX1):c.212_213dup (p.Ala72Trpfs) rs74689946
NM_033629.6(TREX1):c.366_368dup (p.Ala123_His124insAla) rs77371662
NM_033629.6(TREX1):c.58dup (p.Glu20Glyfs) rs78300695
NM_033629.6(TREX1):c.625_628dup (p.Trp210Serfs) rs78948846

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