"Blueprint Genetics"[submitter] AND "RAF1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 181514	NM_002880.4(RAF1):c.1880G>A (p.Arg627Gln)	RAF1 (R627Q +5 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1NN +2 more	GUncertain significance
Select item 636805	NM_002880.4(RAF1):c.1802A>G (p.Gln601Arg)	RAF1 (Q601R +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 222776	NM_002880.4(RAF1):c.1537-3T>C	RAF1	Single nucleotide variant (intron variant)	Ventricular tachycardia	GUncertain significance
Select item 222775	NM_002880.4(RAF1):c.1220T>A (p.Leu407His)	RAF1 (L407H +5 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 155829	NM_002880.4(RAF1):c.1172G>T (p.Arg391Met)	RAF1 (R391M +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GConflicting classifications of pathogenicity
Select item 411094	NM_002880.4(RAF1):c.997C>T (p.Arg333Cys)	RAF1 (R333C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 40607	NM_002880.4(RAF1):c.788T>G (p.Val263Gly)	RAF1 (V263G +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 636789	NM_002880.4(RAF1):c.785A>G (p.Asn262Ser)	RAF1 (N262S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 181517	NM_002880.4(RAF1):c.785A>T (p.Asn262Ile)	RAF1 (N262I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 636579	NM_002880.4(RAF1):c.784A>T (p.Asn262Tyr)	RAF1 (N262Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 40605	NM_002880.4(RAF1):c.781C>G (p.Pro261Ala)	RAF1 (P261A +3 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +6 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 222774	NM_002880.4(RAF1):c.779C>T (p.Thr260Ile)	RAF1 (T260I +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance FDA Recognized database
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 40600	NM_002880.4(RAF1):c.769T>C (p.Ser257Pro)	RAF1 (S257P +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 636674	NM_002880.4(RAF1):c.728C>G (p.Ser243Cys)	RAF1 (S243C +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +1 more	GUncertain significance
Select item 40594	NM_002880.4(RAF1):c.524A>G (p.His175Arg)	RAF1 (H175R +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 40592	NM_002880.4(RAF1):c.452T>C (p.Phe151Ser)	RAF1 (F151S +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 636448	NM_002880.4(RAF1):c.208-4G>T	RAF1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity