"Ambry Genetics"[submitter] AND "FBF1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2214801	NM_001319193.2(FBF1):c.3275G>A (p.Arg1092His)	FBF1 (R1092H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234277	NM_001319193.2(FBF1):c.2924A>G (p.Lys975Arg)	FBF1 (K975R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221229	NM_001319193.2(FBF1):c.2368C>T (p.Arg790Cys)	FBF1 (R790C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093239	NM_001319193.2(FBF1):c.2298C>G (p.His766Gln)	FBF1 (H766Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204867	NM_001319193.2(FBF1):c.1937G>T (p.Arg646Leu)	FBF1 (R646L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212613	NM_001319193.2(FBF1):c.1852C>T (p.Arg618Trp)	FBF1 (R618W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399664	NM_001319193.2(FBF1):c.1795C>T (p.His599Tyr)	FBF1 (H599Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243680	NM_001319193.2(FBF1):c.1699C>T (p.Arg567Trp)	FBF1 (R567W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211585	NM_001319193.2(FBF1):c.1669G>A (p.Val557Ile)	FBF1, LOC126862645 (V557I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261536	NM_001319193.2(FBF1):c.1511G>C (p.Arg504Thr)	FBF1, LOC126862645 (R504T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234088	NM_001319193.2(FBF1):c.1475G>A (p.Ser492Asn)	FBF1, LOC126862645 (S492N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410295	NM_001319193.2(FBF1):c.1394C>T (p.Ala465Val)	FBF1 (A465V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377129	NM_001319193.2(FBF1):c.1388A>G (p.His463Arg)	FBF1 (H463R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389491	NM_001319193.2(FBF1):c.1247G>A (p.Gly416Glu)	FBF1 (G416E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389490	NM_001319193.2(FBF1):c.1114G>C (p.Ala372Pro)	FBF1 (A372P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2236309	NM_001319193.2(FBF1):c.1094A>C (p.Glu365Ala)	FBF1 (E365A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257055	NM_001319193.2(FBF1):c.887G>C (p.Gly296Ala)	FBF1 (G296A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241340	NM_001319193.2(FBF1):c.338G>T (p.Ser113Ile)	FBF1 (S113I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249706	NM_001319193.2(FBF1):c.286G>C (p.Asp96His)	FBF1 (D96H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255948	NM_001319193.2(FBF1):c.238A>G (p.Ile80Val)	FBF1 (I80V)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 20