"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1404777	NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)	SOS2 (P1183S)	Single nucleotide variant (missense variant)	Noonan syndrome 9 +1 more	GConflicting classifications of pathogenicity
Select item 475752	NM_006939.4(SOS2):c.3490-13_3490-12dup	SOS2	Duplication (intron variant)	Noonan syndrome 9 +2 more	GBenign
Select item 706888	NM_006939.4(SOS2):c.3490-4del	SOS2	Deletion (intron variant)	Noonan syndrome and Noonan-related syndrome +4 more	GBenign/Likely benign
Select item 496339	NM_006939.4(SOS2):c.3489+19C>T	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9 +2 more	GBenign/Likely benign
Select item 384712	NM_006939.4(SOS2):c.3075+7C>T	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9 +2 more	GBenign
Select item 811274	NM_006939.4(SOS2):c.2712A>G (p.Glu904=)	SOS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 506639	NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser)	SOS2 (N867S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 377127	NM_006939.4(SOS2):c.2317G>C (p.Asp773His)	SOS2 (D773H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 387330	NM_006939.4(SOS2):c.2162-4C>A	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome and Noonan-related syndrome +3 more	GBenign
Select item 420654	NM_006939.4(SOS2):c.2057+19_2057+20del	SOS2	Deletion (intron variant)	Noonan syndrome 9 +2 more	GBenign/Likely benign
Select item 445827	NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile)	SOS2 (L672I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 388232	NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn)	SOS2 (S483N)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +3 more	GBenign
Select item 389391	NM_006939.4(SOS2):c.1344G>A (p.Leu448=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9 +2 more	GBenign/Likely benign
Select item 1542278	NM_006939.4(SOS2):c.1125T>C (p.Ile375=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9 +1 more	GLikely benign
Select item 475738	NM_006939.4(SOS2):c.1071A>G (p.Gln357=)	SOS2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 475763	NM_006939.4(SOS2):c.858+9A>G	SOS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1804331	NM_006939.4(SOS2):c.775G>A (p.Gly259Ser)	SOS2 (G259S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 706548	NM_006939.4(SOS2):c.702G>A (p.Leu234=)	SOS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 384818	NM_006939.4(SOS2):c.622G>A (p.Ala208Thr)	SOS2 (A208T)	Single nucleotide variant (missense variant)	Noonan syndrome 9 +3 more	GBenign
Select item 386529	NM_006939.4(SOS2):c.591A>G (p.Leu197=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome 9 +4 more	GBenign
Select item 445489	NM_006939.4(SOS2):c.572C>G (p.Pro191Arg)	SOS2 (P191R)	Single nucleotide variant (missense variant)	Noonan syndrome 9 +4 more	GBenign/Likely benign
Select item 475759	NM_006939.4(SOS2):c.549G>C (p.Leu183Phe)	SOS2 (L183F)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +4 more	GBenign/Likely benign
Select item 2835843	NM_006939.4(SOS2):c.346-5C>T	SOS2	Single nucleotide variant (intron variant)	Noonan syndrome 9	GLikely benign
Select item 496337	NM_006939.4(SOS2):c.213+18A>T	SOS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign

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Items: 24