ClinVar Miner

List of variants reported as likely pathogenic for RASopathy by Invitae

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 159
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HGVS dbSNP
NC_000012.11:g.(?_112915455)_(112915819_?)del
NC_000017.10:g.(?_29527434)_(29533395_?)del
NC_000017.10:g.(?_29540877)_(29563299_?)dup
NC_000017.10:g.(?_29652828)_(29657526_?)dup
NC_000017.10:g.(?_29652832)_(29701179_?)del
NM_000267.3(NF1):c.1062+1G>A
NM_000267.3(NF1):c.1183_1185+2delAAGGT rs1555611039
NM_000267.3(NF1):c.1186-1G>C rs876660782
NM_000267.3(NF1):c.1260+2T>G rs1555611110
NM_000267.3(NF1):c.1340T>C (p.Leu447Pro)
NM_000267.3(NF1):c.1392+1delG rs1060500347
NM_000267.3(NF1):c.1392+2T>C rs1555611610
NM_000267.3(NF1):c.1393-1G>A
NM_000267.3(NF1):c.1393-1G>T rs1131691131
NM_000267.3(NF1):c.1393-2A>T rs1555612266
NM_000267.3(NF1):c.1527+1G>T rs1060500331
NM_000267.3(NF1):c.1527+4_1527+7delAGTA rs1555612294
NM_000267.3(NF1):c.1641+1G>A rs1555612866
NM_000267.3(NF1):c.1641+2T>C rs1555612867
NM_000267.3(NF1):c.1721+2T>G rs1567845116
NM_000267.3(NF1):c.1846-2A>G rs1567846609
NM_000267.3(NF1):c.2002-1G>A rs1555613743
NM_000267.3(NF1):c.2002-4_2010del rs878853871
NM_000267.3(NF1):c.204+2T>G
NM_000267.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_000267.3(NF1):c.2251+1G>C rs1555613843
NM_000267.3(NF1):c.2251+2T>G rs864622142
NM_000267.3(NF1):c.2252-1G>A rs587781577
NM_000267.3(NF1):c.2252-1delG
NM_000267.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_000267.3(NF1):c.2326-1G>A
NM_000267.3(NF1):c.2326-1G>C rs1567848100
NM_000267.3(NF1):c.2326-2A>G rs1555613975
NM_000267.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_000267.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_000267.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730
NM_000267.3(NF1):c.2375T>A (p.Leu792His)
NM_000267.3(NF1):c.2410-16A>G rs1567848704
NM_000267.3(NF1):c.243_254delinsTGAGAGAGA (p.Ser82_Ile85delinsGluArgAsp)
NM_000267.3(NF1):c.2850+2T>G
NM_000267.3(NF1):c.2850G>C (p.Gln950His) rs863224446
NM_000267.3(NF1):c.2851-1G>A
NM_000267.3(NF1):c.288+1del rs1057519370
NM_000267.3(NF1):c.2894T>G (p.Ile965Arg) rs1555614438
NM_000267.3(NF1):c.2990G>A (p.Arg997Lys)
NM_000267.3(NF1):c.2991-3T>G
NM_000267.3(NF1):c.2991G>C (p.Arg997Ser)
NM_000267.3(NF1):c.2991G>T (p.Arg997Ser) rs755501749
NM_000267.3(NF1):c.3104T>A (p.Met1035Lys)
NM_000267.3(NF1):c.3104T>G (p.Met1035Arg) rs137854553
NM_000267.3(NF1):c.3113+2T>G rs876658997
NM_000267.3(NF1):c.3114-2A>G rs1428885377
NM_000267.3(NF1):c.3197+2delT
NM_000267.3(NF1):c.3197+489_3382del
NM_000267.3(NF1):c.3198-2A>T rs1131691089
NM_000267.3(NF1):c.3314+1G>A
NM_000267.3(NF1):c.3314+2T>A rs863224445
NM_000267.3(NF1):c.3315-1G>A
NM_000267.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_000267.3(NF1):c.3468C>A (p.Asn1156Lys) rs147955381
NM_000267.3(NF1):c.3496G>A (p.Gly1166Ser)
NM_000267.3(NF1):c.3497-1G>A rs1555615004
NM_000267.3(NF1):c.3569G>A (p.Gly1190Asp) rs1555615032
NM_000267.3(NF1):c.3639_3641del (p.Met1215del) rs1060500276
NM_000267.3(NF1):c.3641T>G (p.Met1214Arg) rs1567851416
NM_000267.3(NF1):c.3708+1G>T rs1420779915
NM_000267.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_000267.3(NF1):c.3871-1G>A rs1567852753
NM_000267.3(NF1):c.3974+2T>C rs1555615567
NM_000267.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_000267.3(NF1):c.3975-1G>T rs1060500370
NM_000267.3(NF1):c.3G>A (p.Met1Ile)
NM_000267.3(NF1):c.4111-1G>A rs1555618492
NM_000267.3(NF1):c.4111-2A>G rs1555618489
NM_000267.3(NF1):c.4171A>G (p.Arg1391Gly) rs1555618515
NM_000267.3(NF1):c.4173A>C (p.Arg1391Ser)
NM_000267.3(NF1):c.4173A>T (p.Arg1391Ser) rs137854554
NM_000267.3(NF1):c.4180A>C (p.Asn1394His) rs1555618518
NM_000267.3(NF1):c.4265C>T (p.Ser1422Leu) rs1555618566
NM_000267.3(NF1):c.4269+1G>A rs1555618572
NM_000267.3(NF1):c.4269+2T>C rs786204207
NM_000267.3(NF1):c.4270-1G>A rs1418965797
NM_000267.3(NF1):c.4270-2A>C
NM_000267.3(NF1):c.4276C>G (p.Gln1426Glu)
NM_000267.3(NF1):c.4277A>G (p.Gln1426Arg) rs786204157
NM_000267.3(NF1):c.4288A>G (p.Asn1430Asp) rs1567862283
NM_000267.3(NF1):c.4309_4311GAA[1] (p.Glu1438del) rs267606607
NM_000267.3(NF1):c.4310A>G (p.Glu1437Gly) rs878853894
NM_000267.3(NF1):c.4367+2T>C rs1555618693
NM_000267.3(NF1):c.4493G>A (p.Gly1498Glu) rs1567863004
NM_000267.3(NF1):c.4772+1G>T rs1085307819
NM_000267.3(NF1):c.4773-1G>C rs1057518326
NM_000267.3(NF1):c.479G>C (p.Arg160Thr) rs199474752
NM_000267.3(NF1):c.4967_4972TCTATA[1] (p.Ile1658_Tyr1659del) rs1135402868
NM_000267.3(NF1):c.5546+5G>A
NM_000267.3(NF1):c.5547-1G>C rs1567613569
NM_000267.3(NF1):c.5547-2A>G rs1135402876
NM_000267.3(NF1):c.5791T>C (p.Trp1931Arg) rs199474791
NM_000267.3(NF1):c.5795T>C (p.Leu1932Pro) rs199474792
NM_000267.3(NF1):c.586+5G>A rs1060500284
NM_000267.3(NF1):c.587-2A>G rs1057518360
NM_000267.3(NF1):c.5943+1G>A rs1555534433
NM_000267.3(NF1):c.5944-?_6858+?del
NM_000267.3(NF1):c.60+1G>C
NM_000267.3(NF1):c.60+1G>T rs1555594500
NM_000267.3(NF1):c.6085-1G>C rs1555534661
NM_000267.3(NF1):c.61-2A>G rs1131691100
NM_000267.3(NF1):c.6364G>A (p.Glu2122Lys) rs1555534775
NM_000267.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_000267.3(NF1):c.654+1G>T rs1060500245
NM_000267.3(NF1):c.6579+1G>A rs1060500345
NM_000267.3(NF1):c.6579+1G>T rs1060500345
NM_000267.3(NF1):c.6580-2A>G
NM_000267.3(NF1):c.6580-2A>T
NM_000267.3(NF1):c.6622T>C (p.Trp2208Arg) rs1060500342
NM_000267.3(NF1):c.6642-1G>A rs1060500356
NM_000267.3(NF1):c.6642-1G>C rs1060500356
NM_000267.3(NF1):c.6755A>T (p.Lys2252Met) rs1060500344
NM_000267.3(NF1):c.6756+1G>A rs1555534964
NM_000267.3(NF1):c.6757-1G>C rs1060500266
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.6858+3A>G rs1085307885
NM_000267.3(NF1):c.6858G>A (p.Lys2286=)
NM_000267.3(NF1):c.6859-2A>G rs864622509
NM_000267.3(NF1):c.7027C>A (p.Arg2343=) rs1567620403
NM_000267.3(NF1):c.7126+1G>A rs1555535455
NM_000267.3(NF1):c.7395-7_7396delinsT rs1555536334
NM_000267.3(NF1):c.7552+1G>T rs1555536380
NM_000267.3(NF1):c.755_757TGG[1] (p.Val253del) rs1060500323
NM_000267.3(NF1):c.7806+2T>G rs1555536724
NM_000267.3(NF1):c.7807-1G>A rs1567627138
NM_000267.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_002834.4(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.4(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.4(PTPN11):c.213T>G (p.Phe71Leu) rs1555267558
NM_002834.4(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002880.3(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
NM_002880.3(RAF1):c.779C>A (p.Thr260Lys)
NM_004333.6(BRAF):c.1096G>C (p.Ala366Pro)
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1505_1507dup (p.Val502dup) rs1562955153
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.436G>T (p.Ala146Ser) rs121913527
NM_004985.5(KRAS):c.458A>G (p.Asp153Gly) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005633.3(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.3(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.3(SOS1):c.305C>G (p.Pro102Arg) rs1553362937
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_152594.3(SPRED1):c.1196dup (p.Phe400fs) rs1555392791
NM_152594.3(SPRED1):c.207+1G>A

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