ClinVar Miner

List of variants reported as pathogenic for Noonan syndrome 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) rs869025573
NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.3(PTPN11):c.179_181delGTG (p.Gly60del) rs80338836
NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.4(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.4(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.4(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.4(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.4(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.4(PTPN11):c.181_183del (p.Asp61del) rs869025574
NM_002834.4(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.4(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.4(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.4(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.4(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.4(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.4(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.4(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660

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