ClinVar Miner

List of variants reported as pathogenic for RASopathy by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NM_000267.3(NF1):c.125_126dup (p.Leu43fs) rs1555604897
NM_000267.3(NF1):c.1393-2A>G rs1555612266
NM_000267.3(NF1):c.1400_1415del (p.Thr467fs) rs1555612270
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.2251+1G>A rs1555613843
NM_000267.3(NF1):c.2503C>T (p.Gln835Ter) rs1555614207
NM_000267.3(NF1):c.2511G>A (p.Trp837Ter) rs1555614211
NM_000267.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_000267.3(NF1):c.282del (p.Ala95fs) rs1555605404
NM_000267.3(NF1):c.2850+1G>A rs1131691122
NM_000267.3(NF1):c.3111dup (p.Arg1038Ter) rs1131691127
NM_000267.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_000267.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_000267.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_000267.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_000267.3(NF1):c.4110+1G>T rs1555617383
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) rs199474789
NM_000267.3(NF1):c.4173A>T (p.Arg1391Ser) rs137854554
NM_000267.3(NF1):c.4269+1G>A rs1555618572
NM_000267.3(NF1):c.4269+1del rs1567862095
NM_000267.3(NF1):c.4402A>G (p.Ser1468Gly) rs199474743
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4842T>G (p.Tyr1614Ter) rs948982039
NM_000267.3(NF1):c.495_498TGTT[1] (p.Cys167fs) rs786201874
NM_000267.3(NF1):c.5094del (p.Ile1698fs) rs1555533382
NM_000267.3(NF1):c.5232_5233del (p.Ala1746fs) rs1555533552
NM_000267.3(NF1):c.5254dup (p.Leu1752fs) rs1555533561
NM_000267.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_000267.3(NF1):c.560del (p.Cys187fs) rs1555607107
NM_000267.3(NF1):c.5767del (p.Leu1923fs) rs1555534378
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) rs137854552
NM_000267.3(NF1):c.5844_5845del (p.Arg1949fs) rs863224835
NM_000267.3(NF1):c.5938G>A (p.Gly1980Arg) rs199474751
NM_000267.3(NF1):c.6731del (p.Lys2244fs)
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.7089dup (p.Asn2364Ter) rs1555535434
NM_000267.3(NF1):c.7215T>A (p.Cys2405Ter) rs1567623508
NM_000267.3(NF1):c.7267dup (p.Thr2423fs) rs1064794278
NM_000267.3(NF1):c.7748del (p.Leu2583fs) rs1555536701
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.7919T>A (p.Leu2640Ter) rs1567627709
NM_000267.3(NF1):c.8021del (p.Pro2674fs) rs1555536928
NM_000267.3(NF1):c.889-1G>C rs587781517
NM_002834.4(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.4(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.4(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.4(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.4(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335

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