"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 475755	NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys)	SOS2 (W1248C)	Single nucleotide variant (missense variant)	SOS2-related disorder +4 more	GBenign/Likely benign
Select item 1166294	NM_006939.4(SOS2):c.3602A>G (p.His1201Arg)	SOS2 (H1201R)	Single nucleotide variant (missense variant)	Noonan syndrome 9 +4 more	GBenign/Likely benign
Select item 475754	NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup)	SOS2	Microsatellite (inframe_insertion)	not provided +4 more	GBenign/Likely benign
Select item 517059	NM_006939.4(SOS2):c.3490-13dup	SOS2	Duplication (intron variant)	Noonan syndrome and Noonan-related syndrome +2 more	GBenign
Select item 475752	NM_006939.4(SOS2):c.3490-13_3490-12dup	SOS2	Duplication (intron variant)	SOS2-related disorder +3 more	GBenign
Select item 706888	NM_006939.4(SOS2):c.3490-4del	SOS2	Deletion (intron variant)	Noonan syndrome and Noonan-related syndrome +5 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 542404	NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn)	SOS2 (D952N)	Single nucleotide variant (missense variant)	SOS2-related disorder +5 more	GBenign/Likely benign
Select item 1110478	NM_006939.4(SOS2):c.2786-18_2786-17dup	SOS2	Duplication (intron variant)	Noonan syndrome 9 +3 more	GBenign/Likely benign
Select item 542413	NM_006939.4(SOS2):c.2640A>G (p.Ser880=)	SOS2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 475747	NM_006939.4(SOS2):c.2604C>T (p.Gly868=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome +2 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 1112815	NM_006939.4(SOS2):c.1989A>G (p.Lys663=)	SOS2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 1334211	NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu)	SOS2 (P404L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 542405	NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn)	SOS2 (D400N)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +1 more	GLikely benign
Select item 475762	NM_006939.4(SOS2):c.816T>C (p.Ser272=)	SOS2	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome +4 more	GBenign
Select item 384818	NM_006939.4(SOS2):c.622G>A (p.Ala208Thr)	SOS2 (A208T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign
Select item 386529	NM_006939.4(SOS2):c.591A>G (p.Leu197=)	SOS2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 445489	NM_006939.4(SOS2):c.572C>G (p.Pro191Arg)	SOS2 (P191R)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +4 more	GBenign/Likely benign
Select item 1334301	NM_006939.4(SOS2):c.554C>A (p.Ser185Tyr)	SOS2 (S185Y)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	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 705054	NM_006939.4(SOS2):c.399A>C (p.Val133=)	SOS2	Single nucleotide variant (synonymous variant)	SOS2-related disorder +4 more	GBenign/Likely benign
Select item 1009920	NM_006939.4(SOS2):c.364G>A (p.Val122Met)	SOS2 (V122M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 507714	NM_006939.4(SOS2):c.294A>G (p.Lys98=)	SOS2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1334302	NM_006939.4(SOS2):c.74C>T (p.Ser25Leu)	LOC130055588, SOS2 (S25L)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance

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Items: 26