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

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 853114	NM_002880.4(RAF1):c.1947G>A (p.Ter649=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +1 more	GLikely benign
Select item 44623	NM_002880.4(RAF1):c.1941C>T (p.Val647=)	MKRN2, RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40628	NM_002880.4(RAF1):c.1914G>A (p.Thr638=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 181513	NM_002880.4(RAF1):c.1879C>T (p.Arg627Trp)	RAF1 (R627W +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 40626	NM_002880.4(RAF1):c.1755A>G (p.Val585=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 227046	NM_002880.4(RAF1):c.1668+10_1668+11del	RAF1	Microsatellite (intron variant)	Noonan syndrome and Noonan-related syndrome +3 more	GBenign/Likely benign
Select item 448927	NM_002880.4(RAF1):c.1629G>A (p.Thr543=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40621	NM_002880.4(RAF1):c.1629G>C (p.Thr543=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 1334268	NM_002880.4(RAF1):c.1371C>G (p.Asp457Glu)	RAF1 (D343E +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 235047	NM_002880.4(RAF1):c.1334T>G (p.Leu445Arg)	RAF1 (L445R +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +2 more	GUncertain significance
Select item 40616	NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly)	RAF1 (S427G +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +3 more	GPathogenic/Likely pathogenic
Select item 561376	NM_002880.4(RAF1):c.1150C>G (p.Pro384Ala)	RAF1 (P384A +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +4 more	GConflicting classifications of pathogenicity
Select item 181509	NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn)	RAF1 (D381N +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 178666	NM_002880.4(RAF1):c.1108+9_1108+21del	RAF1	Deletion (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 477682	NM_002880.4(RAF1):c.934G>A (p.Val312Met)	RAF1 (V312M +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +5 more	GConflicting classifications of pathogenicity
Select item 40611	NM_002880.4(RAF1):c.923C>T (p.Pro308Leu)	RAF1 (P308L +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40609	NM_002880.4(RAF1):c.909A>C (p.Thr303=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign FDA Recognized database
Select item 1334269	NM_002880.4(RAF1):c.898C>A (p.Leu300Met)	RAF1 (L186M +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +2 more	GUncertain significance
Select item 40606	NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)	RAF1 (P261R +3 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +4 more	GPathogenic/Likely pathogenic
Select item 40604	NM_002880.4(RAF1):c.781C>A (p.Pro261Thr)	RAF1 (P261T +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +2 more	GPathogenic/Likely pathogenic
Select item 13958	NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)	RAF1 (P261S +3 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40603	NM_002880.4(RAF1):c.776C>T (p.Ser259Phe)	RAF1 (S259F +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +2 more	GPathogenic
Select item 13957	NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	RAF1 (S257L +3 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 1334270	NM_002880.4(RAF1):c.602T>C (p.Ile201Thr)	RAF1 (I120T +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 40597	NM_002880.4(RAF1):c.576A>G (p.Gln192=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1334271	NM_002880.4(RAF1):c.567C>A (p.Asn189Lys)	RAF1 (N108K +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 1334272	NM_002880.4(RAF1):c.492A>G (p.Arg164=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 1334207	NM_002880.4(RAF1):c.424-5_424-3del	RAF1	Microsatellite (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 477675	NM_002880.4(RAF1):c.264G>A (p.Val88=)	RAF1	Single nucleotide variant (synonymous variant +2 more)	Noonan syndrome and Noonan-related syndrome +1 more	GConflicting classifications of pathogenicity
Select item 343103	NM_002880.4(RAF1):c.125C>T (p.Ala42Val)	RAF1 (A42V)	Single nucleotide variant (missense variant +2 more)	RASopathy	GLikely benign FDA Recognized database
Select item 448930	NM_002880.4(RAF1):c.124G>A (p.Ala42Thr)	RAF1 (A42T)	Single nucleotide variant (missense variant +2 more)	RASopathy	GLikely benign FDA Recognized database
Select item 40586	NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)	RAF1 (R41Q)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 520262	NM_002880.4(RAF1):c.113A>C (p.Tyr38Ser)	RAF1 (Y38S)	Single nucleotide variant (missense variant +2 more)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 452342	NM_002880.4(RAF1):c.29C>T (p.Thr10Met)	RAF1 (T10M)	Single nucleotide variant (missense variant +2 more)	RASopathy +2 more	GUncertain significance
Select item 40578	NM_002880.4(RAF1):c.-27+7G>A	RAF1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 35