ClinVar Miner

List of variants reported as likely pathogenic for Medulloblastoma

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Total variants: 79
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HGVS dbSNP
NM_000546.5(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.5(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.5(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.5(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_000546.5(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_000546.5(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.5(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.5(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.5(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_000546.5(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000553.4(WRN):c.1105C>T (p.Arg369Ter) rs17847577
NM_001079846.1(CREBBP):c.4222C>G (p.Arg1408Gly) rs398124146
NM_001079846.1(CREBBP):c.4222C>T (p.Arg1408Cys) rs398124146
NM_001079846.1(CREBBP):c.4223G>A (p.Arg1408His) rs1057519884
NM_001079846.1(CREBBP):c.4223G>T (p.Arg1408Leu) rs1057519884
NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn) rs1057519889
NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr) rs1057519889
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) rs121913399
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala) rs28931589
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.109T>C (p.Ser37Pro) rs121913228
NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala) rs121913228
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) rs121913403
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe) rs121913403
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) rs28931588
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) rs28931588
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) rs121913396
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val) rs121913396
NM_001904.4(CTNNB1):c.97T>A (p.Ser33Thr) rs1057519886
NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro) rs1057519886
NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala) rs1057519886
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_005378.6(MYCN):c.131C>T (p.Pro44Leu) rs1057519919
NM_005896.3(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.3(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.3(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_005896.3(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_005896.3(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu) rs397517201
NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His) rs1057519940
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln) rs1057519932
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960
NM_018315.5(FBXW7):c.1153C>G (p.Arg385Gly) rs867384286
NM_018315.5(FBXW7):c.1153C>T (p.Arg385Cys) rs867384286
NM_018315.5(FBXW7):c.1154G>A (p.Arg385His) rs1057519895
NM_018315.5(FBXW7):c.1154G>C (p.Arg385Pro) rs1057519895
NM_018315.5(FBXW7):c.1154G>T (p.Arg385Leu) rs1057519895
NM_023110.2(FGFR1):c.1543A>G (p.Met515Val) rs1057519899
NM_023110.2(FGFR1):c.1636A>G (p.Asn546Asp) rs1057519898
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.2(FGFR1):c.1968G>C (p.Lys656Asn) rs1057519897

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