ClinVar for PubMed (Select 19352411) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from PubMed

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2814413	NM_002834.5(PTPN11):c.184_185delinsAT (p.Tyr62Ile)	PTPN11 (Y62I +1 more)	Indel (missense variant)	RASopathy	GUncertain significance
Select item 2756656	NM_002834.5(PTPN11):c.185A>C (p.Tyr62Ser)	PTPN11 (Y61S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic
Select item 1485945	NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn)	PTPN11 (Y62N +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +1 more	GLikely pathogenic
Select item 986082	NM_006939.4(SOS2):c.1648C>G (p.Arg550Gly)	SOS2 (R550G)	Single nucleotide variant (missense variant)	Noonan syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 40684	NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser)	SOS1 (R552S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 40683	NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)	SOS1 (R552K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40682	NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)	SOS1 (R552T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40681	NM_005633.4(SOS1):c.1655G>T (p.Arg552Met)	SOS1 (R552M +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic FDA Recognized database
Select item 13329	NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	PTPN11 (Y62D +1 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 13326	NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	PTPN11 (N308D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12872	NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)	SOS1 (R552S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 12871	NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)	SOS1 (R552G +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database