"Ambry Genetics"[submitter] AND "CYFIP2"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2340477	NM_001037333.3(CYFIP2):c.57G>C (p.Glu19Asp)	CYFIP2 (E19D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257413	NM_001037333.3(CYFIP2):c.121A>G (p.Asn41Asp)	CYFIP2 (N41D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 430807	NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)	CYFIP2 (R87C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1391258	NM_001037333.3(CYFIP2):c.370A>C (p.Lys124Gln)	CYFIP2 (K98Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2258650	NM_001037333.3(CYFIP2):c.720C>G (p.Asp240Glu)	CYFIP2 (D240E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2298775	NM_001037333.3(CYFIP2):c.795+5A>T	CYFIP2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 985509	NM_001037333.3(CYFIP2):c.1073G>A (p.Arg358His)	CYFIP2 (R332H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1501425	NM_001037333.3(CYFIP2):c.1150G>A (p.Glu384Lys)	CYFIP2 (E358K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3079325	NM_001037333.3(CYFIP2):c.1426A>G (p.Arg476Gly)	CYFIP2 (R476G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079326	NM_001037333.3(CYFIP2):c.1617A>C (p.Lys539Asn)	CYFIP2 (K539N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079327	NM_001037333.3(CYFIP2):c.1625T>A (p.Phe542Tyr)	CYFIP2 (F542Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2420244	NM_001037333.3(CYFIP2):c.1983G>A (p.Glu661=)	CYFIP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3270479	NM_001037333.3(CYFIP2):c.2201G>T (p.Gly734Val)	CYFIP2 (G734V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1640669	NM_001037333.3(CYFIP2):c.2222C>T (p.Pro741Leu)	CYFIP2 (P715L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2265404	NM_001037333.3(CYFIP2):c.2266C>T (p.Leu756=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 986251	NM_001037333.3(CYFIP2):c.2348T>C (p.Ile783Thr)	CYFIP2 (I757T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2527174	NM_001037333.3(CYFIP2):c.2389C>G (p.Leu797Val)	CYFIP2 (L822V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2319293	NM_001037333.3(CYFIP2):c.2461G>A (p.Asp821Asn)	CYFIP2 (D795N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1435277	NM_001037333.3(CYFIP2):c.2489A>G (p.Asn830Ser)	CYFIP2 (N855S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2182763	NM_001037333.3(CYFIP2):c.2599G>C (p.Ala867Pro)	CYFIP2 (A841P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1974287	NM_001037333.3(CYFIP2):c.2662T>C (p.Tyr888His)	CYFIP2 (Y913H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2604659	NM_001001343.4(FNDC9):c.632G>T (p.Gly211Val)	CYFIP2, FNDC9 (G211V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366028	NM_001001343.4(FNDC9):c.630G>T (p.Arg210Ser)	CYFIP2, FNDC9 (R210S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315183	NM_001001343.4(FNDC9):c.629G>A (p.Arg210Lys)	CYFIP2, FNDC9 (R210K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336393	NM_001001343.4(FNDC9):c.581T>C (p.Leu194Pro)	CYFIP2, FNDC9 (L194P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3279432	NM_001001343.4(FNDC9):c.553C>T (p.Arg185Cys)	CYFIP2, FNDC9 (R185C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268286	NM_001001343.4(FNDC9):c.539T>A (p.Leu180Gln)	CYFIP2, FNDC9 (L180Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398347	NM_001001343.4(FNDC9):c.428C>T (p.Pro143Leu)	CYFIP2, FNDC9 (P143L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353553	NM_001001343.4(FNDC9):c.325C>T (p.Pro109Ser)	CYFIP2, FNDC9 (P109S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543399	NM_001001343.4(FNDC9):c.288T>A (p.Asp96Glu)	CYFIP2, FNDC9 (D96E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395764	NM_001001343.4(FNDC9):c.287A>G (p.Asp96Gly)	CYFIP2, FNDC9 (D96G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463686	NM_001001343.4(FNDC9):c.260A>G (p.His87Arg)	FNDC9, CYFIP2 (H87R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279434	NM_001001343.4(FNDC9):c.179C>T (p.Ser60Phe)	CYFIP2, FNDC9 (S60F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279433	NM_001001343.4(FNDC9):c.178T>A (p.Ser60Thr)	CYFIP2, FNDC9 (S60T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381292	NM_001001343.4(FNDC9):c.134G>A (p.Arg45His)	CYFIP2, FNDC9 (R45H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096118	NM_001001343.4(FNDC9):c.64C>T (p.Pro22Ser)	CYFIP2, FNDC9 (P22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3018749	NM_001037333.3(CYFIP2):c.3122G>A (p.Arg1041His)	CYFIP2, NIPAL4-DT (R1066H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1601142	NM_001037333.3(CYFIP2):c.3122G>T (p.Arg1041Leu)	CYFIP2, NIPAL4-DT (R1015L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1474905	NM_001037333.3(CYFIP2):c.3133C>T (p.Arg1045Trp)	CYFIP2, NIPAL4-DT (R1019W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1478609	NM_001037333.3(CYFIP2):c.3164C>T (p.Pro1055Leu)	CYFIP2, NIPAL4-DT (P1055L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1426526	NM_001037333.3(CYFIP2):c.3175G>T (p.Val1059Phe)	CYFIP2, NIPAL4-DT (V1059F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1527912	NM_001037333.3(CYFIP2):c.3186C>G (p.Ile1062Met)	CYFIP2, NIPAL4-DT (I1036M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2314167	NM_001037333.3(CYFIP2):c.3229G>A (p.Gly1077Ser)	CYFIP2, NIPAL4-DT (G1051S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535328	NM_001037333.3(CYFIP2):c.3298C>T (p.Arg1100Trp)	CYFIP2, NIPAL4-DT (R1074W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1390031	NM_001037333.3(CYFIP2):c.3382C>T (p.Arg1128Trp)	CYFIP2, NIPAL4-DT (R1102W +2 more)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 1644835	NM_001037333.3(CYFIP2):c.3490A>G (p.Ile1164Val)	CYFIP2, LOC126807569 +1 more (I1138V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2231882	NM_001037333.3(CYFIP2):c.3568G>A (p.Gly1190Arg)	CYFIP2, LOC126807569 +1 more (G1190R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985750	NM_001037333.3(CYFIP2):c.3616C>T (p.Arg1206Trp)	CYFIP2, NIPAL4-DT (R1180W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2179008	NM_001037333.3(CYFIP2):c.3716G>A (p.Arg1239His)	CYFIP2, NIPAL4-DT (R1264H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 49