ClinVar Miner

List of variants reported as pathogenic for RASopathy by Center for Human Genetics, Inc

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
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HGVS dbSNP
NM_000267.3(NF1):c.1017_1018CT[1] (p.Ser340fs) rs1555610903
NM_000267.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_000267.3(NF1):c.1237T>C (p.Ser413Pro) rs1555611093
NM_000267.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030
NM_000267.3(NF1):c.1392+1G>A rs267604791
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1527+5G>A rs1060500352
NM_000267.3(NF1):c.1540C>T (p.Gln514Ter) rs1316926587
NM_000267.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600
NM_000267.3(NF1):c.1541del (p.Gln514fs) rs1555612815
NM_000267.3(NF1):c.1607C>A (p.Ser536Ter) rs1555612859
NM_000267.3(NF1):c.1642-1G>A rs1555613185
NM_000267.3(NF1):c.1642-8A>G rs267606602
NM_000267.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_000267.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_000267.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_000267.3(NF1):c.2002-1G>A rs1555613743
NM_000267.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_000267.3(NF1):c.204+1G>A rs886039548
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.205-1G>C rs1555605362
NM_000267.3(NF1):c.2252-2A>C rs1131691105
NM_000267.3(NF1):c.2325+1G>A rs1555613933
NM_000267.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_000267.3(NF1):c.2356C>T (p.Gln786Ter) rs1555613999
NM_000267.3(NF1):c.2409+1G>C rs1555614022
NM_000267.3(NF1):c.240_241TC[3] (p.Gln83fs) rs771115661
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_000267.3(NF1):c.2533T>C (p.Cys845Arg) rs1060500254
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2786T>C (p.Leu929Pro) rs1555614338
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.2850+1G>A rs1131691122
NM_000267.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_000267.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_000267.3(NF1):c.3046T>C (p.Cys1016Arg) rs878853880
NM_000267.3(NF1):c.3197+1G>A rs1555614653
NM_000267.3(NF1):c.3198-2A>G rs1131691089
NM_000267.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_000267.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_000267.3(NF1):c.3686del (p.Asn1229fs) rs1555615103
NM_000267.3(NF1):c.3818_3819CT[2] (p.Phe1275fs) rs1555615472
NM_000267.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_000267.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_000267.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_000267.3(NF1):c.3911del (p.Leu1304fs) rs1555615549
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000267.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_000267.3(NF1):c.4243G>T (p.Glu1415Ter) rs876660428
NM_000267.3(NF1):c.4270-2A>G rs1555618634
NM_000267.3(NF1):c.4277A>C (p.Gln1426Pro) rs786204157
NM_000267.3(NF1):c.4289A>C (p.Asn1430Thr) rs199474754
NM_000267.3(NF1):c.4523A>G (p.Lys1508Arg) rs1555619001
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4572C>G (p.Tyr1524Ter) rs754023358
NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter) rs137854555
NM_000267.3(NF1):c.4720del (p.Gln1574fs) rs1555619404
NM_000267.3(NF1):c.4772+1G>A rs1085307819
NM_000267.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_000267.3(NF1):c.4912_4913CT[1] (p.Lys1640fs) rs1085307459
NM_000267.3(NF1):c.495_498TGTT[1] (p.Cys167fs) rs786201874
NM_000267.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_000267.3(NF1):c.5206-2A>G rs1555533548
NM_000267.3(NF1):c.5242C>T (p.Arg1748Ter) rs876657714
NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) rs797045139
NM_000267.3(NF1):c.5429G>A (p.Trp1810Ter) rs1135402872
NM_000267.3(NF1):c.5446G>A (p.Asp1816Asn) rs771597781
NM_000267.3(NF1):c.5485_5486del (p.Val1829fs) rs1555533636
NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) rs786202112
NM_000267.3(NF1):c.55G>T (p.Glu19Ter) rs786203307
NM_000267.3(NF1):c.5613dup (p.Leu1872fs) rs1475358670
NM_000267.3(NF1):c.5749+2T>C rs1555533887
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.586+1G>A rs1555607126
NM_000267.3(NF1):c.5944-2A>G rs1555534595
NM_000267.3(NF1):c.5944-5A>G rs267606604
NM_000267.3(NF1):c.6084+1G>A rs1060500296
NM_000267.3(NF1):c.6579+1G>T rs1060500345
NM_000267.3(NF1):c.6641+1G>T rs1060500376
NM_000267.3(NF1):c.6641+2T>G rs1555534928
NM_000267.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_000267.3(NF1):c.6709C>T (p.Arg2237Ter) rs876658541
NM_000267.3(NF1):c.6792C>A (p.Tyr2264Ter) rs772295894
NM_000267.3(NF1):c.6792C>G (p.Tyr2264Ter) rs772295894
NM_000267.3(NF1):c.6858+1G>T rs1060500355
NM_000267.3(NF1):c.7090_7095AACTTT[1] (p.2364_2365NF[1]) rs864622639
NM_000267.3(NF1):c.7267dup (p.Thr2423fs) rs1064794278
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_000267.3(NF1):c.7638dup (p.Lys2547fs) rs1060500295
NM_000267.3(NF1):c.7697C>G (p.Ser2566Ter) rs1131691090
NM_000267.3(NF1):c.7843C>T (p.Gln2615Ter) rs567988442
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.888+1G>A rs1135402799
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_000267.3(NF1):c.943C>T (p.Gln315Ter) rs766011053
NM_000267.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_000267.3(NF1):c.981_982GT[1] (p.Leu327_Cys328insTer) rs1555610893
NM_000267.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_002834.4(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
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.179G>C (p.Gly60Ala) rs397507509
NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.4(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
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.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter) rs1555389690
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) rs121434315
NM_152594.3(SPRED1):c.304dup (p.Thr102fs) rs1555391053
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.7_20del (p.Glu3fs) rs1555386651

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