"RAF1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1782601	NM_002880.4(RAF1):c.1917G>A (p.Leu639=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RAF1-related disorder +2 more	GLikely benign
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 699817	NM_002880.4(RAF1):c.1821G>A (p.Glu607=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 165004	NM_002880.3(RAF1):c.1804-11_1804-7dup	RAF1	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 177842	NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)	RAF1 (Y574C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 849037	NM_002880.4(RAF1):c.1687C>T (p.Arg563Ter)	RAF1 (R449* +5 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 227046	NM_002880.4(RAF1):c.1668+10_1668+11del	RAF1	Microsatellite (intron variant)	not specified +4 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 1172905	NM_002880.4(RAF1):c.1608C>T (p.Ile536=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RAF1-related disorder +2 more	GLikely benign
Select item 2630338	NM_002880.4(RAF1):c.1336A>G (p.Ile446Val)	RAF1 (I385V +5 more)	Single nucleotide variant (missense variant +1 more)	RAF1-related disorder	GUncertain significance
Select item 2636701	NM_002880.4(RAF1):c.1309G>C (p.Glu437Gln)	RAF1 (E323Q +5 more)	Single nucleotide variant (missense variant +1 more)	RAF1-related disorder	GUncertain significance
Select item 3058578	NM_002880.4(RAF1):c.1203G>A (p.Arg401=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RAF1-related disorder	GLikely benign
Select item 1733013	NM_002880.4(RAF1):c.1148C>A (p.Thr383Asn)	RAF1 (T350N +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 178666	NM_002880.4(RAF1):c.1108+9_1108+21del	RAF1	Deletion (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 2126262	NM_002880.4(RAF1):c.989T>C (p.Ile330Thr)	RAF1 (I330T +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +1 more	GUncertain significance
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 448928	NM_002880.4(RAF1):c.907A>G (p.Thr303Ala)	RAF1 (T303A +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely benign FDA Recognized database
Select item 1043342	NM_002880.4(RAF1):c.869C>A (p.Pro290His)	RAF1 (P290H +5 more)	Single nucleotide variant (missense variant +1 more)	RAF1-related disorder +1 more	GUncertain significance
Select item 2629351	NM_002880.4(RAF1):c.841A>G (p.Ile281Val)	RAF1 (I167V +5 more)	Single nucleotide variant (missense variant +1 more)	RAF1-related disorder +2 more	GUncertain significance
Select item 3053700	NM_002880.4(RAF1):c.834+646_834+647insCA	RAF1 (L214fs +1 more)	Insertion (frameshift variant +1 more)	RAF1-related disorder	GUncertain significance
Select item 2632665	NM_002880.4(RAF1):c.834+614_834+618delinsTGTTAT	RAF1 (A203fs +1 more)	Indel (frameshift variant +1 more)	RAF1-related disorder	GUncertain significance
Select item 3036249	NM_002880.4(RAF1):c.834+611A>G	RAF1 (S202G +1 more)	Single nucleotide variant (missense variant +1 more)	RAF1-related disorder	GUncertain significance
Select item 3032984	NM_002880.4(RAF1):c.828G>T (p.Met276Ile)	RAF1 (M162I +3 more)	Single nucleotide variant (missense variant +1 more)	RAF1-related disorder	GUncertain significance
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 disorder +7 more	GPathogenic/Likely pathogenic
Select item 1112676	NM_002880.4(RAF1):c.771G>A (p.Ser257=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RAF1-related disorder +1 more	GLikely benign
Select item 44629	NM_002880.4(RAF1):c.639T>C (p.Thr213=)	RAF1	Single nucleotide variant (synonymous variant +2 more)	RASopathy	GBenign FDA Recognized database
Select item 3031947	NM_002880.4(RAF1):c.594T>C (p.Asn198=)	RAF1	Single nucleotide variant (synonymous variant +2 more)	RAF1-related disorder	GLikely benign
Select item 544003	NM_002880.4(RAF1):c.513A>G (p.Lys171=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +3 more	GLikely benign
Select item 197747	NM_002880.4(RAF1):c.438C>A (p.Phe146Leu)	RAF1 (F146L +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5 +5 more	GUncertain significance
Select item 44628	NM_002880.4(RAF1):c.435G>A (p.Thr145=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RAF1-related disorder +7 more	GLikely benign
Select item 3057538	NM_002880.4(RAF1):c.424-10C>G	RAF1	Single nucleotide variant (intron variant)	RAF1-related disorder	GLikely benign
Select item 1738065	NM_002880.4(RAF1):c.412A>G (p.Thr138Ala)	RAF1 (T138A +1 more)	Single nucleotide variant (missense variant +1 more)	RAF1-related disorder +1 more	GUncertain significance
Select item 2042033	NM_002880.4(RAF1):c.310G>A (p.Glu104Lys)	RAF1 (E104K)	Single nucleotide variant (missense variant +2 more)	RASopathy +1 more	GUncertain significance
Select item 40588	NM_002880.4(RAF1):c.212A>G (p.Asn71Ser)	RAF1 (N71S)	Single nucleotide variant (missense variant +2 more)	RASopathy	GBenign FDA Recognized database
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 +8 more	GConflicting classifications of pathogenicity
Select item 1013959	NM_002880.4(RAF1):c.68_70del (p.Asp23del)	RAF1 (D23del)	Deletion (inframe_deletion +2 more)	RASopathy +2 more	GUncertain significance
Select item 40583	NM_002880.4(RAF1):c.66T>G (p.Phe22Leu)	RAF1 (F22L)	Single nucleotide variant (missense variant +2 more)	RASopathy	GLikely benign FDA Recognized database
Select item 961784	NM_002880.4(RAF1):c.53A>G (p.Lys18Arg)	RAF1 (K18R)	Single nucleotide variant (missense variant +2 more)	RAF1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3038424	NM_002880.4(RAF1):c.-262G>C	RAF1	Single nucleotide variant (5 prime UTR variant +1 more)	RAF1-related disorder	GLikely benign

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Items: 42