C4551558[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034196	NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile)	SOS1 (V1117I +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +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 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
Select item 40670	NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg)	SOS1 (G434R +1 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic
Select item 181550	NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly)	SOS1 (E424G +1 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GConflicting classifications of pathogenicity
Select item 162463	NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys)	SOS1 (Y337C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 372585	NM_005633.4(SOS1):c.829C>A (p.Pro277Thr)	SOS1 (P277T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 12869	NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)	SOS1 (T266K +1 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic
Select item 40643	NM_005633.4(SOS1):c.195A>C (p.Arg65=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 1029999	NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe)	LOC129933535, SOS1 (Y8F)	Single nucleotide variant (missense variant +1 more)	Fibromatosis, gingival, 1 +2 more	GUncertain significance