"Baylor Genetics"[submitter] AND "CENPF"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032734	NM_016343.4(CENPF):c.37C>T (p.Pro13Ser)	CENPF (P13S)	Single nucleotide variant (missense variant)	Stromme syndrome	GUncertain significance
Select item 224501	NM_016343.4(CENPF):c.171_199del (p.Asn57fs)	CENPF, LOC126806006 (N57fs)	Deletion (frameshift variant)	Stromme syndrome	GPathogenic
Select item 1029441	NM_016343.4(CENPF):c.1323+1G>A	CENPF	Single nucleotide variant (splice donor variant)	Stromme syndrome	GPathogenic
Select item 2442063	NM_016343.4(CENPF):c.2513C>A (p.Ser838Ter)	CENPF (S838*)	Single nucleotide variant (nonsense)	Stromme syndrome	GLikely pathogenic
Select item 1029442	NM_016343.4(CENPF):c.3242A>T (p.Glu1081Val)	CENPF (E1081V)	Single nucleotide variant (missense variant)	Stromme syndrome	GUncertain significance
Select item 434704	NM_016343.4(CENPF):c.3617A>G (p.Tyr1206Cys)	CENPF (Y1206C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2582638	NM_016343.4(CENPF):c.3703C>T (p.Gln1235Ter)	CENPF (Q1235*)	Single nucleotide variant (nonsense)	Stromme syndrome	GPathogenic
Select item 1032735	NM_016343.4(CENPF):c.4364A>G (p.Asn1455Ser)	CENPF (N1455S)	Single nucleotide variant (missense variant)	Stromme syndrome	GUncertain significance
Select item 1029443	NM_016343.4(CENPF):c.4999C>T (p.Arg1667Ter)	CENPF (R1667*)	Single nucleotide variant (nonsense)	Stromme syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1029445	NM_016343.4(CENPF):c.7000C>T (p.Leu2334Phe)	CENPF (L2334F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033405	NM_016343.4(CENPF):c.7307C>T (p.Ser2436Leu)	CENPF (S2436L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 377215	NM_016343.4(CENPF):c.7352A>G (p.Asn2451Ser)	CENPF (N2451S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033406	NM_016343.4(CENPF):c.7647A>C (p.Gln2549His)	CENPF (Q2549H)	Single nucleotide variant (missense variant)	Stromme syndrome	GUncertain significance
Select item 2442116	NM_016343.4(CENPF):c.8159A>G (p.Gln2720Arg)	CENPF (Q2720R)	Single nucleotide variant (missense variant)	Stromme syndrome	GUncertain significance
Select item 1029446	NM_016343.4(CENPF):c.8385G>A (p.Met2795Ile)	CENPF (M2795I)	Single nucleotide variant (missense variant)	Stromme syndrome	GUncertain significance