"Blueprint Genetics"[submitter] AND "SOS1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45366	NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser)	SOS1 (P1235S +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 636612	NM_005633.4(SOS1):c.2345T>G (p.Ile782Arg)	SOS1 (I782R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 40696	NM_005633.4(SOS1):c.2104T>C (p.Tyr702His)	SOS1 (Y702H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
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 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 372656	NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp)	SOS1 (R552W +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic 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 40678	NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)	SOS1 (S548R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 636446	NM_005633.4(SOS1):c.1559A>T (p.Asp520Val)	SOS1 (D520V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636676	NM_005633.4(SOS1):c.1532A>G (p.Lys511Arg)	SOS1 (K511R +1 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 636445	NM_005633.4(SOS1):c.1433C>G (p.Pro478Arg)	SOS1 (P478R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +1 more	GConflicting classifications of pathogenicity
Select item 180531	NM_005633.4(SOS1):c.1352C>A (p.Thr451Lys)	SOS1 (T451K +1 more)	Single nucleotide variant (missense variant)	Cafe au lait spots, multiple +1 more	GUncertain significance
Select item 45345	NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)	SOS1 (I437T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +7 more	GPathogenic/Likely pathogenic
Select item 40672	NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	SOS1 (G434R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +12 more	GPathogenic/Likely pathogenic
Select item 636552	NM_005633.4(SOS1):c.938G>A (p.Ser313Asn)	SOS1 (S313N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636677	NM_005633.4(SOS1):c.804_806del (p.Met269del)	SOS1 (M269del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 40662	NM_005633.4(SOS1):c.806T>C (p.Met269Thr)	SOS1 (M269T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40642	NM_005633.4(SOS1):c.127G>C (p.Asp43His)	SOS1 (D43H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance