ClinVar Miner

List of variants reported as pathogenic for RASopathy by GeneDx

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_002524.4(NRAS):c.112-1_113dup rs730880967
NM_002755.3(MAP2K1):c.383_384delGCinsTT (p.Gly128Val) rs730880508
NM_002834.4(PTPN11):c.1517_1518delAGinsCC (p.Gln506Pro) rs397509345
NM_002834.4(PTPN11):c.179_182delGTGAinsT (p.Gly60_Asp61delinsVal) rs397507508
NM_002834.4(PTPN11):c.768_770dupACA (p.Gln257_Glu258insGln) rs397507524
NM_005188.2:c.1227+2_1227+3delTACinsAAG
NM_005188.3(CBL):c.1076_1087del (p.Asp359_Lys362del) rs397507490
NM_005188.3(CBL):c.1096-4_1096-1delAAAG rs397517077
NM_005188.3(CBL):c.1227+2_1227+4delTACinsAAG rs397507493
NM_005343.3(HRAS):c.35_36delGCinsAT (p.Gly12Asp) rs727503094
NM_005633.3(SOS1):c.1300_1301delGGinsAA (p.Gly434Lys) rs730881048

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