List of variants studied for Noonan-like syndrome by Illumina Laboratory Services, Illumina

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Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_005188.4(CBL):c.*1038del	rs555529036	0.00550
NM_005188.3(CBL):c.-157A>G	rs527849757	0.00087
NM_005188.4(CBL):c.1360A>G (p.Asn454Asp)	rs371850672	0.00004
NM_005188.4(CBL):c.2414_2416dup (p.Leu805_Asp806insVal)	rs777761446	0.00001
NM_005188.3(CBL):c.-126_-125insTGG	rs878976124
NM_005188.3(CBL):c.-126_-125insTGGCGG	rs758396206
NM_005188.3(CBL):c.-126_-125insTGGCGGCGGCGGCGGCGG	rs758396206
NM_005188.3(CBL):c.-127_-125GGC[12]	rs57028199
NM_005188.3(CBL):c.-127_-125GGC[13]	rs57028199
NM_005188.3(CBL):c.-127_-125GGC[14]	rs57028199
NM_005188.3(CBL):c.-127_-125GGC[15]	rs57028199
NM_005188.3(CBL):c.-127_-125GGC[8]	rs57028199
NM_005188.4(CBL):c.*1732del	rs549459958
NM_005188.4(CBL):c.*2129dup	rs886047782
NM_005188.4(CBL):c.*2762dup	rs886047785
NM_005188.4(CBL):c.*3106del	rs886047787
NM_005188.4(CBL):c.*3241dup	rs79093187
NM_005188.4(CBL):c.365_366insGG	rs397958007
NM_005188.4(CBL):c.*4863dup	rs572265582
NM_005188.4(CBL):c.559_560insCAA	rs3833768
NM_005188.4(CBL):c.*5771T>A	rs886047800
NM_005188.4(CBL):c.*5986del	rs541615597
NM_005188.4(CBL):c.7170_7173del	rs112360309
NM_005188.4(CBL):c.*7173del	rs112360309
NM_005188.4(CBL):c.*7578TC[1]	rs376134331
NM_005188.4(CBL):c.8164_8167del	rs886047814
NM_005188.4(CBL):c.*8288GTTA[1]	rs563997189
NM_005188.4(CBL):c.-125_-116delinsT	rs886047763
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)	rs373212940
NM_005188.4(CBL):c.1228-10dup	rs397517078
NM_005188.4(CBL):c.686A>T (p.Asp229Val)	rs1414848678

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