BPIFC[gene] and "single gene"[properties] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2248496	NM_174932.3(BPIFC):c.1478G>A (p.Gly493Asp)	BPIFC (G493D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261398	NM_174932.3(BPIFC):c.1447A>G (p.Lys483Glu)	BPIFC (K483E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261396	NM_174932.3(BPIFC):c.1246C>T (p.Arg416Cys)	BPIFC (R416C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591830	NM_174932.3(BPIFC):c.1075G>A (p.Asp359Asn)	BPIFC (D359N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134869	NM_174932.3(BPIFC):c.1043T>C (p.Ile348Thr)	BPIFC (I348T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261393	NM_174932.3(BPIFC):c.968T>G (p.Val323Gly)	BPIFC (V323G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521046	NM_174932.3(BPIFC):c.967G>A (p.Val323Met)	BPIFC (V323M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508589	NM_174932.3(BPIFC):c.944A>G (p.Gln315Arg)	BPIFC (Q315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366633	NM_174932.3(BPIFC):c.785C>A (p.Pro262His)	BPIFC (P262H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134874	NM_174932.3(BPIFC):c.751G>A (p.Val251Ile)	BPIFC (V251I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404488	NM_174932.3(BPIFC):c.626C>T (p.Ala209Val)	BPIFC (A209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569645	NM_174932.3(BPIFC):c.610G>T (p.Ala204Ser)	BPIFC (A204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2975955	NM_174932.3(BPIFC):c.531-18_531-16dup	BPIFC	Duplication (intron variant)	not provided	GBenign
Select item 2798125	NM_174932.3(BPIFC):c.531-16dup	BPIFC	Duplication (intron variant)	not provided	GBenign
Select item 2776152	NM_174932.3(BPIFC):c.531-17_531-16dup	BPIFC	Duplication (intron variant)	not provided	GBenign
Select item 3134873	NM_174932.3(BPIFC):c.508G>A (p.Val170Ile)	BPIFC (V170I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261395	NM_174932.3(BPIFC):c.498C>G (p.Ser166Arg)	BPIFC (S166R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261394	NM_174932.3(BPIFC):c.425G>A (p.Gly142Asp)	BPIFC (G142D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511141	NM_174932.3(BPIFC):c.346A>G (p.Thr116Ala)	BPIFC (T116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134872	NM_174932.3(BPIFC):c.246T>C (p.Asn82=)	BPIFC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2349647	NM_174932.3(BPIFC):c.175C>T (p.Leu59Phe)	BPIFC (L59F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134871	NM_174932.3(BPIFC):c.122A>G (p.Tyr41Cys)	BPIFC (Y41C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134870	NM_174932.3(BPIFC):c.121T>C (p.Tyr41His)	BPIFC (Y41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23