"Gharavi Laboratory, Columbia University"[submitter] AND "CENPF"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 591257	NM_016343.4(CENPF):c.343G>T (p.Glu115Ter)	LOC126806006, CENPF (E115*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591211	NM_016343.4(CENPF):c.3262_3345del (p.Lys1088_Thr1115del)	CENPF	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 591046	NM_016343.4(CENPF):c.3685AAGGAG[1] (p.1229KE[1])	CENPF	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 591653	NM_016343.4(CENPF):c.4477_4478inv (p.Ser1493Asp)	CENPF (S1493D)	Inversion (missense variant)	Stromme syndrome	GUncertain significance
Select item 592054	NM_016343.4(CENPF):c.4986+1G>T	CENPF	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 591454	NM_016343.4(CENPF):c.8131C>T (p.Gln2711Ter)	CENPF (Q2711*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

ClinVar