ClinVar Miner

List of variants studied for RASopathy by Service de Génétique Moléculaire,Hôpital Robert Debré

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NC_000007.14:g.140778013T>G
NC_000007.14:g.140778060T>G
NC_000007.14:g.140781598_140781603del
NC_000007.14:g.140781600T>G
NC_000007.14:g.140924603G>A
NC_000007.14:g.140924615C>T
NC_000011.10:g.533828_533870dup
NM_002755.3(MAP2K1):c.1072C>T
NM_002755.3(MAP2K1):c.137A>T
NM_002755.3(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.3(MAP2K1):c.322C>T
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.577C>G
NM_002755.3(MAP2K1):c.608A>G rs727503996
NM_002755.3(MAP2K1):c.872G>A
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala)
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) rs397507477
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) rs121913337
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) rs730880461
NM_005343.4(HRAS):c.451-4C>T
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.241G>C (p.Glu81Gln) rs869025192
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_030662.3(MAP2K2):c.1109A>G
NM_030662.3(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.3(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277
NM_030662.3(MAP2K2):c.149A>G
NM_030662.3(MAP2K2):c.183A>T (p.Lys61Asn) rs886041310
NM_030662.3(MAP2K2):c.187_192del
NM_030662.3(MAP2K2):c.26T>C (p.Leu9Pro)
NM_030662.3(MAP2K2):c.274A>G (p.Arg92Gly) rs759061964
NM_030662.3(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030662.3(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030662.3(MAP2K2):c.811G>A
NM_030662.3(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980

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