Related gene-specific medical variations for Gene (Select 1063) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362776	NM_016343.4(CENPF):c.7983+2_7983+3insG	CENPF	Insertion (intron variant)	Stromme syndrome	GUncertain significance
Select item 3345494	NM_016343.4(CENPF):c.196A>T (p.Lys66Ter)	LOC126806006, CENPF (K66*)	Single nucleotide variant (nonsense)	CENPF-related disorder	GPathogenic
Select item 3142317	NM_016343.4(CENPF):c.281A>G (p.Glu94Gly)	CENPF, LOC126806006 (E94G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142312	NM_016343.4(CENPF):c.203A>G (p.Glu68Gly)	CENPF, LOC126806006 (E68G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639888	NM_016343.4(CENPF):c.235C>T (p.Leu79=)	CENPF, LOC126806006	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582638	NM_016343.4(CENPF):c.3703C>T (p.Gln1235Ter)	CENPF (Q1235*)	Single nucleotide variant (nonsense)	Stromme syndrome	GPathogenic
Select item 2577653	NM_016343.4(CENPF):c.322A>C (p.Lys108Gln)	CENPF, LOC126806006 (K108Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2487523	NM_016343.4(CENPF):c.305G>A (p.Gly102Glu)	CENPF, LOC126806006 (G102E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2442063	NM_016343.4(CENPF):c.2513C>A (p.Ser838Ter)	CENPF (S838*)	Single nucleotide variant (nonsense)	Stromme syndrome	GLikely pathogenic
Select item 2439896	NM_016343.4(CENPF):c.6214T>C (p.Ser2072Pro)	CENPF (S2072P)	Single nucleotide variant (missense variant)	Stromme syndrome	GConflicting classifications of pathogenicity
Select item 2173929	NM_016343.4(CENPF):c.330A>G (p.Gln110=)	CENPF, LOC126806006	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1700193	NM_016343.4(CENPF):c.8786C>G (p.Ser2929Ter)	CENPF (S2929*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GPathogenic
Select item 1371364	NM_016343.4(CENPF):c.287A>G (p.Gln96Arg)	CENPF, LOC126806006 (Q96R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312876	NM_016343.4(CENPF):c.346C>G (p.Gln116Glu)	CENPF, LOC126806006 (Q116E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1205759	NM_016343.4(CENPF):c.359+212C>T	CENPF, LOC126806006	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187948	NM_016343.4(CENPF):c.359+56C>T	LOC126806006, CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 931209	NM_016343.4(CENPF):c.9200C>T (p.Thr3067Met)	CENPF (T3067M)	Single nucleotide variant (missense variant)	Stromme syndrome	GLikely benign
Select item 872564	NM_016343.4(CENPF):c.163-3T>A	CENPF, LOC126806006	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 813632	NM_016343.4(CENPF):c.6229G>T (p.Ala2077Ser)	CENPF (A2077S)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813623	NM_016343.4(CENPF):c.6889C>T (p.His2297Tyr)	CENPF (H2297Y)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 791832	NM_016343.4(CENPF):c.312G>A (p.Leu104=)	CENPF, LOC126806006	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 760026	NM_016343.4(CENPF):c.300G>A (p.Gln100=)	CENPF, LOC126806006	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 592054	NM_016343.4(CENPF):c.4986+1G>T	CENPF	Single nucleotide variant (splice donor variant)	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 591454	NM_016343.4(CENPF):c.8131C>T (p.Gln2711Ter)	CENPF (Q2711*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 445592	NM_016343.4(CENPF):c.4171G>T (p.Glu1391Ter)	CENPF (E1391*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 445409	NM_016343.4(CENPF):c.1630del (p.Lys543_Ile544insTer)	CENPF	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 224501	NM_016343.4(CENPF):c.171_199del (p.Asn57fs)	CENPF, LOC126806006 (N57fs)	Deletion (frameshift variant)	Stromme syndrome	GPathogenic

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Links from Gene

Items: 32