ClinVar Miner

List of variants reported as pathogenic for RASopathy by Medical Genetics,University of Parma

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
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HGVS dbSNP
NM_000267.3(NF1):c.1041_1045del (p.Gln347fs) rs1135402800
NM_000267.3(NF1):c.1152del (p.Arg385fs) rs1135402803
NM_000267.3(NF1):c.1280_1292del (p.Pro427fs) rs1135402804
NM_000267.3(NF1):c.1322_1323AT[1] (p.Met442fs) rs1135402805
NM_000267.3(NF1):c.1374dup (p.Ala459fs) rs1135402806
NM_000267.3(NF1):c.1392+1delG rs1060500347
NM_000267.3(NF1):c.1400del (p.Thr467fs) rs1135402808
NM_000267.3(NF1):c.1462del (p.Ser488fs) rs1135402810
NM_000267.3(NF1):c.1469_1472del (p.Lys490fs) rs1135402811
NM_000267.3(NF1):c.1525dup (p.Cys509fs) rs1135402813
NM_000267.3(NF1):c.1561del (p.Ser521fs) rs1135402814
NM_000267.3(NF1):c.1570G>T (p.Glu524Ter) rs1135402815
NM_000267.3(NF1):c.1613del (p.Met538fs) rs1135402817
NM_000267.3(NF1):c.1667_1670del (p.Asp556fs) rs1135402819
NM_000267.3(NF1):c.1683G>A (p.Trp561Ter) rs1135402820
NM_000267.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_000267.3(NF1):c.1866T>A (p.Cys622Ter) rs753245823
NM_000267.3(NF1):c.1883_1885delinsCC (p.Tyr628fs) rs1135402823
NM_000267.3(NF1):c.1918dup (p.Thr640fs) rs1135402825
NM_000267.3(NF1):c.1949T>A (p.Leu650Ter) rs1135402826
NM_000267.3(NF1):c.2034delinsCA (p.Ile679fs) rs1064796331
NM_000267.3(NF1):c.2218G>T (p.Glu740Ter) rs1135402827
NM_000267.3(NF1):c.2338_2343del (p.Thr780_His781del) rs1135402828
NM_000267.3(NF1):c.2349del (p.Lys783fs) rs1135402829
NM_000267.3(NF1):c.2790T>G (p.Tyr930Ter) rs1135402832
NM_000267.3(NF1):c.2848del (p.Gln950fs) rs1135402833
NM_000267.3(NF1):c.3027del (p.Gln1010fs) rs1135402837
NM_000267.3(NF1):c.3037del (p.Thr1013fs) rs1135402838
NM_000267.3(NF1):c.3040A>T (p.Lys1014Ter) rs1135402839
NM_000267.3(NF1):c.3048T>A (p.Cys1016Ter) rs1135402840
NM_000267.3(NF1):c.3189T>A (p.Cys1063Ter) rs1135402841
NM_000267.3(NF1):c.332_335del (p.Lys111fs) rs1135402787
NM_000267.3(NF1):c.3429_3432dup (p.Thr1145fs) rs1135402842
NM_000267.3(NF1):c.3591dup (p.Glu1198fs) rs1135402844
NM_000267.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_000267.3(NF1):c.3692_3708del (p.Val1231fs) rs1135402848
NM_000267.3(NF1):c.3732dup (p.Thr1245fs) rs1135402849
NM_000267.3(NF1):c.4000del (p.Glu1334fs) rs1135402851
NM_000267.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_000267.3(NF1):c.4191del (p.Ile1397fs) rs1135402855
NM_000267.3(NF1):c.4261del (p.Met1421fs) rs1135402856
NM_000267.3(NF1):c.4276C>T (p.Gln1426Ter) rs1135402857
NM_000267.3(NF1):c.4316_4317AT[3] (p.Met1440fs) rs1135402859
NM_000267.3(NF1):c.4397del (p.Pro1466fs) rs1135402861
NM_000267.3(NF1):c.4457T>G (p.Leu1486Ter) rs1135402863
NM_000267.3(NF1):c.4756del (p.Tyr1586fs) rs876658492
NM_000267.3(NF1):c.4935dup (p.Pro1646fs) rs1135402867
NM_000267.3(NF1):c.4967_4972TCTATA[1] (p.Ile1658_Tyr1659del) rs1135402868
NM_000267.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_000267.3(NF1):c.4999G>T (p.Glu1667Ter) rs1135402869
NM_000267.3(NF1):c.538_541del (p.Leu180fs) rs1135402789
NM_000267.3(NF1):c.5429G>A (p.Trp1810Ter) rs1135402872
NM_000267.3(NF1):c.5483_5490del (p.Asp1828fs) rs1135402873
NM_000267.3(NF1):c.5508_5509delinsT (p.Ala1837fs) rs1135402875
NM_000267.3(NF1):c.5574del (p.Ala1858_Leu1859insTer) rs1135402877
NM_000267.3(NF1):c.5609dup (p.Leu1871fs) rs1135402878
NM_000267.3(NF1):c.5624C>G (p.Ser1875Ter) rs1135402879
NM_000267.3(NF1):c.5780dup (p.Tyr1927Ter) rs1135402881
NM_000267.3(NF1):c.5844_5845del (p.Arg1949fs) rs863224835
NM_000267.3(NF1):c.603del (p.Phe201fs) rs1135402792
NM_000267.3(NF1):c.610dup (p.Leu204fs) rs1135402793
NM_000267.3(NF1):c.6134del (p.Thr2045fs) rs1135402883
NM_000267.3(NF1):c.6148C>T (p.Gln2050Ter) rs1135402884
NM_000267.3(NF1):c.6263del (p.Phe2088fs) rs1135402885
NM_000267.3(NF1):c.6389_6393delinsA (p.Leu2130fs) rs1135402887
NM_000267.3(NF1):c.6399dup (p.Glu2134fs) rs1135402888
NM_000267.3(NF1):c.6482del (p.Tyr2161fs) rs1135402889
NM_000267.3(NF1):c.6483_6487del (p.Tyr2161_Asp2163delinsTer) rs1135402890
NM_000267.3(NF1):c.6514G>T (p.Glu2172Ter) rs1135402891
NM_000267.3(NF1):c.6815del (p.Ala2272fs) rs1135402895
NM_000267.3(NF1):c.6967del (p.Thr2323fs) rs1135402897
NM_000267.3(NF1):c.7197dup (p.Asn2400Ter) rs1135402901
NM_000267.3(NF1):c.7224del (p.Phe2408fs) rs1135402902
NM_000267.3(NF1):c.7274_7275del (p.Val2424_Ser2425insTer) rs1135402904
NM_000267.3(NF1):c.7320del (p.Leu2441fs) rs1135402905
NM_000267.3(NF1):c.7346dup (p.Asn2449fs) rs1135402906
NM_000267.3(NF1):c.7682_7683AG[1] (p.Arg2562fs) rs1135402907
NM_000267.3(NF1):c.7719del (p.Val2575fs) rs1135402908
NM_000267.3(NF1):c.789del (p.Ala264fs) rs1135402795
NM_000267.3(NF1):c.792del (p.Ala265fs) rs1135402796
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363

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