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

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 994394	NM_002880.4(RAF1):c.1897G>A (p.Asp633Asn)	RAF1 (D519N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 13960	NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)	RAF1 (L613V +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40627	NM_002880.4(RAF1):c.1830A>G (p.Gln610=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
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 179378	NM_002880.4(RAF1):c.1688G>A (p.Arg563Gln)	RAF1 (R563Q +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +2 more	GUncertain significance
Select item 40625	NM_002880.4(RAF1):c.1669-13T>C	RAF1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 138881	NM_002880.4(RAF1):c.1668+19G>T	RAF1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
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 1587839	NM_002880.4(RAF1):c.1194-16C>T	RAF1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 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 504514	NM_002880.4(RAF1):c.775T>G (p.Ser259Ala)	RAF1 (S259A +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GPathogenic 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 618340	NM_002880.4(RAF1):c.769T>A (p.Ser257Thr)	RAF1 (S257T +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +1 more	GLikely pathogenic
Select item 44631	NM_002880.4(RAF1):c.766A>G (p.Arg256Gly)	RAF1 (R256G +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +2 more	GPathogenic/Likely pathogenic
Select item 178110	NM_002880.4(RAF1):c.321-14T>A	RAF1	Single nucleotide variant (intron variant)	Noonan syndrome 5 +4 more	GBenign/Likely benign
Select item 40587	NM_002880.4(RAF1):c.208-17T>C	RAF1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
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 40585	NM_002880.4(RAF1):c.119G>A (p.Arg40His)	RAF1 (R40H)	Single nucleotide variant (missense variant +2 more)	RASopathy	GBenign FDA Recognized database

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Items: 20