CENPF[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1198092	NM_016343.4(CENPF):c.-41-312C>A	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209451	NM_016343.4(CENPF):c.-41-257T>C	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2481760	NM_016343.4(CENPF):c.25A>C (p.Lys9Gln)	CENPF (K9Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1209807	NM_016343.4(CENPF):c.33G>A (p.Gly11=)	CENPF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 2501220	NM_016343.4(CENPF):c.40A>G (p.Thr14Ala)	CENPF (T14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572819	NM_016343.4(CENPF):c.44G>C (p.Arg15Thr)	CENPF (R15T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3142332	NM_016343.4(CENPF):c.47C>G (p.Ala16Gly)	CENPF (A16G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365867	NM_016343.4(CENPF):c.66G>T (p.Glu22Asp)	CENPF (E22D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2248807	NM_016343.4(CENPF):c.74G>T (p.Gly25Val)	CENPF (G25V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588663	NM_016343.4(CENPF):c.85A>C (p.Lys29Gln)	CENPF (K29Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288968	NM_016343.4(CENPF):c.92A>G (p.Lys31Arg)	CENPF (K31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1307760	NM_016343.4(CENPF):c.117T>G (p.Phe39Leu)	CENPF (F39L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1951398	NM_016343.4(CENPF):c.127A>G (p.Ser43Gly)	CENPF (S43G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736675	NM_016343.4(CENPF):c.132C>T (p.Leu44=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3357161	NM_016343.4(CENPF):c.140C>T (p.Ala47Val)	CENPF (A47V)	Single nucleotide variant (missense variant)	CENPF-related disorder	GUncertain significance
Select item 1703970	NM_016343.4(CENPF):c.143T>C (p.Leu48Pro)	CENPF (L48P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197904	NM_016343.4(CENPF):c.162+55G>C	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265959	NM_016343.4(CENPF):c.162+171A>G	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249271	NM_016343.4(CENPF):c.162+205dup	CENPF	Duplication (intron variant)	not provided	GBenign
Select item 1183371	NM_016343.4(CENPF):c.162+204_162+205dup	CENPF	Duplication (intron variant)	not provided	GBenign
Select item 1218534	NM_016343.4(CENPF):c.162+268G>C	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237184	NM_016343.4(CENPF):c.162+284A>G	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190879	NM_016343.4(CENPF):c.162+300A>G	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217866	NM_016343.4(CENPF):c.162+301C>T	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243952	NM_016343.4(CENPF):c.360-304C>G	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208669	NM_016343.4(CENPF):c.360-266C>T	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656869	NM_016343.4(CENPF):c.360-14T>C	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3142326	NM_016343.4(CENPF):c.389A>G (p.Gln130Arg)	CENPF (Q130R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3022952	NM_016343.4(CENPF):c.396G>T (p.Ala132=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1048671	NM_016343.4(CENPF):c.407A>G (p.Asp136Gly)	CENPF (D136G)	Single nucleotide variant (missense variant)	Stromme syndrome	GUncertain significance
Select item 2639889	NM_016343.4(CENPF):c.444T>C (p.Ile148=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2252085	NM_016343.4(CENPF):c.455C>T (p.Pro152Leu)	CENPF (P152L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1200966	NM_016343.4(CENPF):c.481+212G>T	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296697	NM_016343.4(CENPF):c.482-192A>G	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194258	NM_016343.4(CENPF):c.482-123C>G	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642614	NM_016343.4(CENPF):c.486C>T (p.Ser162=)	CENPF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3265888	NM_016343.4(CENPF):c.512A>G (p.Tyr171Cys)	CENPF (Y171C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1452892	NM_016343.4(CENPF):c.532C>T (p.Arg178Ter)	CENPF (R178*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1336990	NM_016343.4(CENPF):c.533G>A (p.Arg178Gln)	CENPF (R178Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 767750	NM_016343.4(CENPF):c.562T>C (p.Leu188=)	CENPF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2494152	NM_016343.4(CENPF):c.572A>C (p.Lys191Thr)	CENPF (K191T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1898114	NM_016343.4(CENPF):c.573+16G>T	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195571	NM_016343.4(CENPF):c.573+263A>G	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296704	NM_016343.4(CENPF):c.574-185G>A	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193927	NM_016343.4(CENPF):c.574-130G>A	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 190386	NM_016343.4(CENPF):c.574-2A>C	CENPF	Single nucleotide variant (splice acceptor variant)	CENPF-related disorder +1 more	GPathogenic
Select item 2608327	NM_016343.4(CENPF):c.577G>A (p.Ala193Thr)	CENPF (A193T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265904	NM_016343.4(CENPF):c.584A>G (p.Gln195Arg)	CENPF (Q195R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367942	NM_016343.4(CENPF):c.619A>G (p.Ile207Val)	CENPF (I207V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489197	NM_016343.4(CENPF):c.623C>T (p.Ala208Val)	CENPF (A208V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 444194	NM_016343.4(CENPF):c.625C>T (p.Arg209Trp)	CENPF (R209W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503228	NM_016343.4(CENPF):c.626G>A (p.Arg209Gln)	CENPF (R209Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 434702	NM_016343.4(CENPF):c.635C>A (p.Ala212Asp)	CENPF (A212D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1309762	NM_016343.4(CENPF):c.641C>T (p.Ser214Leu)	CENPF (S214L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595949	NM_016343.4(CENPF):c.643T>C (p.Ser215Pro)	CENPF (S215P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1557389	NM_016343.4(CENPF):c.651C>T (p.Phe217=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594902	NM_016343.4(CENPF):c.687A>G (p.Ser229=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2389184	NM_016343.4(CENPF):c.695C>A (p.Ser232Tyr)	CENPF (S232Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050977	NM_016343.4(CENPF):c.726T>C (p.Ser242=)	CENPF	Single nucleotide variant (synonymous variant)	CENPF-related disorder	GLikely benign
Select item 2880268	NM_016343.4(CENPF):c.756dup (p.Thr253fs)	CENPF (T253fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 730782	NM_016343.4(CENPF):c.766C>A (p.Arg256=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2353957	NM_016343.4(CENPF):c.767G>A (p.Arg256Gln)	CENPF (R256Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027369	NM_016343.4(CENPF):c.821C>G (p.Ser274Cys)	CENPF (S274C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2485611	NM_016343.4(CENPF):c.852A>T (p.Lys284Asn)	CENPF (K284N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715859	NM_016343.4(CENPF):c.855G>A (p.Ala285=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1270411	NM_016343.4(CENPF):c.865+237C>G	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263663	NM_016343.4(CENPF):c.865+267T>A	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219702	NM_016343.4(CENPF):c.865+306G>A	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194035	NM_016343.4(CENPF):c.866-115G>T	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 783016	NM_016343.4(CENPF):c.898C>T (p.Arg300Cys)	CENPF (R300C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3234429	NM_016343.4(CENPF):c.900C>T (p.Arg300=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3142357	NM_016343.4(CENPF):c.919G>A (p.Glu307Lys)	CENPF (E307K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1338138	NM_016343.4(CENPF):c.945T>G (p.Phe315Leu)	CENPF (F315L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2063702	NM_016343.4(CENPF):c.965T>C (p.Leu322Pro)	CENPF (L322P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3265905	NM_016343.4(CENPF):c.973G>A (p.Ala325Thr)	CENPF (A325T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2634845	NM_016343.4(CENPF):c.988A>T (p.Ile330Phe)	CENPF (I330F)	Single nucleotide variant (missense variant)	CENPF-related disorder	GUncertain significance
Select item 978423	NM_016343.4(CENPF):c.997_1012del (p.Glu333fs)	CENPF (E333fs)	Deletion (frameshift variant)	Cystinuria	GLikely pathogenic
Select item 421569	NM_016343.4(CENPF):c.1026del (p.Glu342fs)	CENPF (E342fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 3142305	NM_016343.4(CENPF):c.1048T>C (p.Tyr350His)	CENPF (Y350H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 728762	NM_016343.4(CENPF):c.1055A>G (p.Gln352Arg)	CENPF (Q352R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1666576	NM_016343.4(CENPF):c.1059G>A (p.Ala353=)	CENPF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2307306	NM_016343.4(CENPF):c.1064C>T (p.Thr355Ile)	CENPF (T355I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1709379	NM_016343.4(CENPF):c.1068G>A (p.Lys356=)	CENPF	Single nucleotide variant (synonymous variant)	Stromme syndrome	GUncertain significance
Select item 1196601	NM_016343.4(CENPF):c.1068+15G>A	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1229844	NM_016343.4(CENPF):c.1068+170C>T	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273129	NM_016343.4(CENPF):c.1068+275T>C	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230163	NM_016343.4(CENPF):c.1069-90C>T	CENPF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1524917	NM_016343.4(CENPF):c.1070A>G (p.Tyr357Cys)	CENPF (Y357C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816971	NM_016343.4(CENPF):c.1081G>T (p.Glu361Ter)	CENPF (E361*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2042894	NM_016343.4(CENPF):c.1090C>G (p.Leu364Val)	CENPF (L364V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3142306	NM_016343.4(CENPF):c.1099T>A (p.Leu367Met)	CENPF (L367M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598336	NM_016343.4(CENPF):c.1103C>T (p.Thr368Met)	CENPF (T368M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279548	NM_016343.4(CENPF):c.1106A>C (p.Glu369Ala)	CENPF (E369A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715860	NM_016343.4(CENPF):c.1145G>A (p.Arg382Lys)	CENPF (R382K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1219110	NM_016343.4(CENPF):c.1159C>G (p.Gln387Glu)	CENPF (Q387E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3142308	NM_016343.4(CENPF):c.1188T>A (p.Phe396Leu)	CENPF (F396L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1314785	NM_016343.4(CENPF):c.1192G>A (p.Glu398Lys)	CENPF (E398K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205405	NM_016343.4(CENPF):c.1194+173T>C	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209147	NM_016343.4(CENPF):c.1195-332T>C	CENPF	Single nucleotide variant (intron variant)	not provided	GLikely benign

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