ClinVar for MedGen (Select 370588) - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696596	NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg)	RAF1 (T527R +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5 +1 more	GUncertain significance
Select item 1675117	NM_002880.4(RAF1):c.161C>A (p.Thr54Lys)	RAF1 (Q11K +1 more)	Single nucleotide variant (missense variant +1 more)	LEOPARD syndrome 2 +2 more	GUncertain significance
Select item 1213769	NC_000003.12:g.12589035_12766981dup	LOC129936179, LOC129936180 +10 more	Duplication	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 1174673	NM_002880.4(RAF1):c.834+598G>A	RAF1	Single nucleotide variant (intron variant +1 more)	Noonan syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 978721	NM_002880.4(RAF1):c.61G>A (p.Val21Met)	RAF1 (V21M)	Single nucleotide variant (missense variant +2 more)	RASopathy +1 more	GLikely benign
Select item 930654	NM_002880.4(RAF1):c.332G>A (p.Arg111His)	RAF1 (R30H +1 more)	Single nucleotide variant (missense variant +1 more)	LEOPARD syndrome 2 +2 more	GUncertain significance
Select item 903302	NM_002880.4(RAF1):c.-107C>T	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 903301	NM_002880.4(RAF1):c.-59C>G	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	LEOPARD syndrome 2 +2 more	GUncertain significance
Select item 903300	NM_002880.4(RAF1):c.-53G>A	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GUncertain significance
Select item 903109	NM_002880.4(RAF1):c.843T>A (p.Ile281=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 903051	NM_002880.4(RAF1):c.*120C>A	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 903005	NM_002880.4(RAF1):c.*647G>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GUncertain significance
Select item 903004	NM_002880.4(RAF1):c.*706C>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GUncertain significance
Select item 903003	NM_014160.5(MKRN2):c.*1421T>A	MKRN2, RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 902521	NM_002880.3(RAF1):c.-354C>G	RAF1	Single nucleotide variant	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 902234	NM_002880.4(RAF1):c.1292A>C (p.Lys431Thr)	RAF1 (K370T +5 more)	Single nucleotide variant (missense variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 902168	NM_002880.4(RAF1):c.*404G>A	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GBenign/Likely benign
Select item 902116	NM_014160.5(MKRN2):c.*1420G>A	MKRN2, RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 900848	NM_002880.4(RAF1):c.-264C>G	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1NN +2 more	GUncertain significance
Select item 900510	NM_002880.4(RAF1):c.*410A>G	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GUncertain significance
Select item 899635	NM_002880.4(RAF1):c.654A>G (p.Arg218=)	RAF1	Single nucleotide variant (synonymous variant +2 more)	Noonan syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 899432	NM_002880.4(RAF1):c.*73T>A	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 899431	NM_002880.4(RAF1):c.*110T>C	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 899387	NM_002880.4(RAF1):c.*628G>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 899386	NM_002880.4(RAF1):c.*630A>G	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 899385	NM_002880.4(RAF1):c.*643C>G	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1NN +2 more	GUncertain significance
Select item 842131	NM_002880.4(RAF1):c.1463G>A (p.Gly488Asp)	RAF1 (G407D +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5 +3 more	GUncertain significance
Select item 801936	NM_002880.4(RAF1):c.773C>G (p.Thr258Arg)	RAF1 (T177R +3 more)	Single nucleotide variant (missense variant +1 more)	LEOPARD syndrome 2	GLikely pathogenic
Select item 620618	NM_002880.4(RAF1):c.31A>T (p.Ile11Phe)	RAF1 (I11F)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 517341	NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn)	RAF1 (K590N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 509193	NM_002880.4(RAF1):c.231C>T (p.Ser77=)	RAF1	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 508664	NM_002880.4(RAF1):c.600T>C (p.Thr200=)	RAF1	Single nucleotide variant (synonymous variant +2 more)	Noonan syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 496189	NM_002880.4(RAF1):c.788T>A (p.Val263Asp)	RAF1 (V263D +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +5 more	GPathogenic/Likely pathogenic
Select item 477682	NM_002880.4(RAF1):c.934G>A (p.Val312Met)	RAF1 (V312M +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +5 more	GConflicting classifications of pathogenicity
Select item 477681	NM_002880.4(RAF1):c.933C>T (p.Pro311=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 448930	NM_002880.4(RAF1):c.124G>A (p.Ala42Thr)	RAF1 (A42T)	Single nucleotide variant (5 prime UTR variant +2 more)	RASopathy	GLikely benign FDA Recognized database
Select item 448929	NM_002880.4(RAF1):c.581+4A>G	RAF1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign FDA Recognized database
Select item 432929	NM_002880.4(RAF1):c.601A>G (p.Ile201Val)	RAF1 (I201V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 393135	NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser)	RAF1 (P623S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 372647	NM_002880.4(RAF1):c.482A>G (p.Asn161Ser)	RAF1 (N161S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 343108	NM_002880.4(RAF1):c.-181T>C	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1NN +2 more	GUncertain significance
Select item 343107	NM_002880.4(RAF1):c.-146C>G	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GUncertain significance
Select item 343106	NM_002880.4(RAF1):c.-139T>G	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GUncertain significance
Select item 343105	NM_002880.4(RAF1):c.-110G>A	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 343104	NM_002880.4(RAF1):c.21T>C (p.Ala7=)	RAF1	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +5 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 343102	NM_002880.4(RAF1):c.*113T>G	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 343101	NM_002880.4(RAF1):c.*160C>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GBenign/Likely benign
Select item 343100	NM_002880.4(RAF1):c.*162T>C	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 343099	NM_002880.4(RAF1):c.*190G>A	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 343098	NM_002880.4(RAF1):c.*348T>C	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +2 more	GBenign/Likely benign
Select item 343097	NM_002880.4(RAF1):c.*495C>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GBenign/Likely benign
Select item 343096	NM_002880.4(RAF1):c.*556G>A	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GBenign/Likely benign
Select item 343095	NM_002880.4(RAF1):c.*606A>G	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GBenign/Likely benign
Select item 343094	NM_002880.4(RAF1):c.*627C>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 343093	NM_002880.4(RAF1):c.*640T>C	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 265535	NM_002880.4(RAF1):c.505G>C (p.Gly169Arg)	RAF1 (G169R +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +4 more	GPathogenic/Likely pathogenic
Select item 220830	NM_002880.4(RAF1):c.462C>G (p.Ile154Met)	RAF1 (I154M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 197747	NM_002880.4(RAF1):c.438C>A (p.Phe146Leu)	RAF1 (F146L +1 more)	Single nucleotide variant (missense variant +1 more)	RAF1-related condition +5 more	GUncertain significance
Select item 181512	NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe)	RAF1 (S605F +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 181507	NM_002880.4(RAF1):c.226A>G (p.Met76Val)	RAF1 (M76V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 180718	NM_002880.4(RAF1):c.1113T>C (p.Asp371=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign FDA Recognized database
Select item 178110	NM_002880.4(RAF1):c.321-14T>A	RAF1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 177842	NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)	RAF1 (Y574C +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 177838	NM_002880.4(RAF1):c.-209G>A	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	LEOPARD syndrome 2 +2 more	GUncertain significance
Select item 44633	NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)	RAF1 (S259Y +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GPathogenic FDA Recognized database
Select item 44630	NM_002880.4(RAF1):c.680+6T>C	RAF1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign FDA Recognized database
Select item 44628	NM_002880.4(RAF1):c.435G>A (p.Thr145=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RAF1-related condition +6 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 40631	NM_002880.4(RAF1):c.*266C>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 40630	NM_002880.4(RAF1):c.*83C>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
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 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 40625	NM_002880.4(RAF1):c.1669-13T>C	RAF1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GBenign
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 40614	NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu)	RAF1 (R398L +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance FDA Recognized database
Select item 40613	NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala)	RAF1 (G361A +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GPathogenic FDA Recognized database
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 40605	NM_002880.4(RAF1):c.781C>G (p.Pro261Ala)	RAF1 (P261A +3 more)	Single nucleotide variant (missense variant +1 more)	RAF1-related condition +7 more	GPathogenic/Likely pathogenic
Select item 40586	NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)	RAF1 (R41Q)	Single nucleotide variant (missense variant +2 more)	RASopathy +8 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
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
Select item 40577	NM_002880.4(RAF1):c.-201C>A	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 40576	NM_002880.4(RAF1):c.-204G>C	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40575	NM_002880.4(RAF1):c.-267G>A	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40574	NM_002880.4(RAF1):c.-281C>G	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 40573	NM_002880.3(RAF1):c.-340_-339GA[1]	RAF1	Microsatellite	RASopathy	GBenign FDA Recognized database
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 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

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Items: 91