"Service de Génétique Moléculaire, Hôpital Robert Debré"[submitter] AN - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 859843	NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)	SOS2	Single nucleotide variant (stop lost)	Noonan syndrome 9 +1 more	GUncertain significance
Select item 475751	NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala)	SOS2 (T1030A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 377127	NM_006939.4(SOS2):c.2317G>C (p.Asp773His)	SOS2 (D773H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 981593	NM_006939.4(SOS2):c.2312_2313insTGTCCT (p.Thr771_Phe772insValLeu)	SOS2	Insertion (inframe_insertion)	Noonan syndrome	GUncertain significance
Select item 651617	NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn)	SOS2 (S754N)	Single nucleotide variant (missense variant)	Noonan syndrome 9 +1 more	GLikely benign
Select item 981592	NM_006939.4(SOS2):c.1634G>A (p.Arg545His)	SOS2 (R545H)	Single nucleotide variant (missense variant)	Noonan syndrome 9 +1 more	GUncertain significance
Select item 981591	NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)	SOS2 (P447T)	Single nucleotide variant (missense variant)	Noonan syndrome 9 +1 more	GUncertain significance
Select item 577079	NM_006939.4(SOS2):c.800T>G (p.Met267Arg)	SOS2 (M267R)	Single nucleotide variant (missense variant)	RASopathy +3 more	GPathogenic/Likely pathogenic
Select item 974590	NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)	SOS2 (T264R)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GPathogenic
Select item 684626	NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)	SOS2 (T264K)	Single nucleotide variant (missense variant)	RASopathy +1 more	GPathogenic/Likely pathogenic
Select item 981590	NM_006939.4(SOS2):c.709C>A (p.Pro237Thr)	SOS2 (P237T)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely benign
Select item 981589	NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)	SOS2 (G195A)	Single nucleotide variant (missense variant)	Noonan syndrome 9 +1 more	GUncertain significance
Select item 475759	NM_006939.4(SOS2):c.549G>C (p.Leu183Phe)	SOS2 (L183F)	Single nucleotide variant (missense variant)	SOS2-related disorder +5 more	GBenign/Likely benign
Select item 981588	NM_006939.4(SOS2):c.530A>G (p.Asp177Gly)	SOS2 (D177G)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 981587	NM_006939.4(SOS2):c.13C>G (p.Pro5Ala)	LOC130055588, SOS2 (P5A)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GLikely benign