ClinVar Miner

List of variants in gene PTPN11 reported as pathogenic by OMIM

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Total variants: 35
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HGVS dbSNP
NG_007459.1:g.45924_60608delinsCA
NM_002834.3(PTPN11):c.179_181delGTG (p.Gly60del) rs80338836
NM_002834.4(PTPN11):c.1093-1G>T rs398122862
NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.4(PTPN11):c.1315del (p.Leu439Trpfs) rs398122860
NM_002834.4(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.4(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.4(PTPN11):c.1516C>T (p.Gln506Ter) rs387907157
NM_002834.4(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
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.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.4(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002834.4(PTPN11):c.227A>T (p.Glu76Val) rs121918465
NM_002834.4(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.4(PTPN11):c.295A>T (p.Lys99Ter) rs387907158
NM_002834.4(PTPN11):c.353_354del (p.Ser118Trpfs) rs398122859
NM_002834.4(PTPN11):c.409_413del (p.Val137Argfs) rs398122857
NM_002834.4(PTPN11):c.412C>T (p.Arg138Ter) rs267606989
NM_002834.4(PTPN11):c.458_468delCTGGTGATGACinsAAGAACACAGGGGAGAGCAATGAC (p.Thr153Lysfs) rs398122858
NM_002834.4(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.4(PTPN11):c.643-2A>C rs398122861
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
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
PTPN11, 11-BP DEL, NT514

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