ClinVar for MedGen (Select 340938) - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3572958	NM_016343.4(CENPF):c.3514_3515del (p.Glu1172fs)	CENPF (E1172fs)	Deletion (frameshift variant)	Stromme syndrome	GPathogenic
Select item 3572957	NM_016343.4(CENPF):c.3764C>A (p.Ser1255Ter)	CENPF (S1255*)	Single nucleotide variant (nonsense)	Stromme syndrome	GPathogenic
Select item 3362776	NM_016343.4(CENPF):c.7983+2_7983+3insG	CENPF	Insertion (intron variant)	Stromme syndrome	GUncertain significance
Select item 3250413	NM_016343.4(CENPF):c.6802C>A (p.Leu2268Ile)	CENPF (L2268I)	Single nucleotide variant (missense variant)	Stromme syndrome	GUncertain significance
Select item 3234915	NM_016343.4(CENPF):c.4986+1G>C	CENPF	Single nucleotide variant (splice donor variant)	Stromme syndrome	GLikely pathogenic
Select item 3234912	NM_016343.4(CENPF):c.8161-1G>A	CENPF	Single nucleotide variant (splice acceptor variant)	Stromme syndrome	GLikely pathogenic
Select item 3234857	NM_016343.4(CENPF):c.3614_3617del (p.Ser1205fs)	CENPF (S1205fs)	Deletion (frameshift variant)	Stromme syndrome	GLikely pathogenic
Select item 2664902	NM_016343.4(CENPF):c.2983C>T (p.Gln995Ter)	CENPF (Q995*)	Single nucleotide variant (nonsense)	Stromme syndrome	GLikely pathogenic
Select item 2582638	NM_016343.4(CENPF):c.3703C>T (p.Gln1235Ter)	CENPF (Q1235*)	Single nucleotide variant (nonsense)	Stromme syndrome	GPathogenic
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 2439897	NM_016343.4(CENPF):c.2010G>T (p.Met670Ile)	CENPF (M670I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2167648	NM_016343.4(CENPF):c.4925G>A (p.Arg1642Gln)	CENPF (R1642Q)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1709379	NM_016343.4(CENPF):c.1068G>A (p.Lys356=)	CENPF	Single nucleotide variant (synonymous variant)	Stromme syndrome	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 1209818	NM_016343.4(CENPF):c.4461T>G (p.Leu1487=)	CENPF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1209817	NM_016343.4(CENPF):c.4235T>C (p.Leu1412Ser)	CENPF (L1412S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1209816	NM_016343.4(CENPF):c.3314C>T (p.Thr1105Ile)	CENPF (T1105I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1209815	NM_016343.4(CENPF):c.3097G>A (p.Gly1033Arg)	CENPF (G1033R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1209814	NM_016343.4(CENPF):c.3052T>G (p.Tyr1018Asp)	CENPF (Y1018D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1209813	NM_016343.4(CENPF):c.2890C>T (p.Leu964=)	CENPF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1209812	NM_016343.4(CENPF):c.2444G>A (p.Arg815His)	CENPF (R815H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1209811	NM_016343.4(CENPF):c.2260C>G (p.Gln754Glu)	CENPF (Q754E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1209810	NM_016343.4(CENPF):c.2101A>G (p.Met701Val)	CENPF (M701V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1209809	NM_016343.4(CENPF):c.1806A>G (p.Leu602=)	CENPF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1209808	NM_016343.4(CENPF):c.1482C>G (p.His494Gln)	CENPF (H494Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 1209719	NM_016343.4(CENPF):c.9318C>G (p.Asn3106Lys)	CENPF (N3106K)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign
Select item 1209683	NM_016343.4(CENPF):c.8827A>G (p.Arg2943Gly)	CENPF (R2943G)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign
Select item 1209682	NM_016343.4(CENPF):c.8186G>A (p.Arg2729Gln)	CENPF (R2729Q)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign
Select item 1209681	NM_016343.4(CENPF):c.7611T>C (p.Leu2537=)	CENPF	Single nucleotide variant (synonymous variant)	Stromme syndrome +1 more	GBenign
Select item 1209680	NM_016343.4(CENPF):c.7581G>A (p.Leu2527=)	CENPF	Single nucleotide variant (synonymous variant)	Stromme syndrome +1 more	GBenign
Select item 1209679	NM_016343.4(CENPF):c.7386A>G (p.Glu2462=)	CENPF	Single nucleotide variant (synonymous variant)	Stromme syndrome +1 more	GBenign
Select item 1209678	NM_016343.4(CENPF):c.7186A>G (p.Asn2396Asp)	CENPF (N2396D)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign
Select item 1209677	NM_016343.4(CENPF):c.7067C>T (p.Ala2356Val)	CENPF (A2356V)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign
Select item 1209676	NM_016343.4(CENPF):c.6674A>G (p.Gln2225Arg)	CENPF (Q2225R)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign
Select item 1209675	NM_016343.4(CENPF):c.6415G>A (p.Ala2139Thr)	CENPF (A2139T)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign
Select item 1209674	NM_016343.4(CENPF):c.6131C>T (p.Ser2044Leu)	CENPF (S2044L)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign
Select item 1209673	NM_016343.4(CENPF):c.6032A>C (p.Glu2011Ala)	CENPF (E2011A)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign
Select item 1209672	NM_016343.4(CENPF):c.5933A>G (p.Asp1978Gly)	CENPF (D1978G)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign
Select item 1209671	NM_016343.4(CENPF):c.5310T>A (p.His1770Gln)	CENPF (H1770Q)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign
Select item 1209670	NM_016343.4(CENPF):c.5302G>A (p.Asp1768Asn)	CENPF (D1768N)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign
Select item 1209669	NM_016343.4(CENPF):c.4543G>A (p.Ala1515Thr)	CENPF (A1515T)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign
Select item 1207720	NM_016343.4(CENPF):c.5635C>T (p.Arg1879Cys)	CENPF (R1879C)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign/Likely benign
Select item 1186709	NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr)	CENPF (H1082Y)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GBenign/Likely 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 1033406	NM_016343.4(CENPF):c.7647A>C (p.Gln2549His)	CENPF (Q2549H)	Single nucleotide variant (missense variant)	Stromme syndrome	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 1032735	NM_016343.4(CENPF):c.4364A>G (p.Asn1455Ser)	CENPF (N1455S)	Single nucleotide variant (missense variant)	Stromme syndrome	GUncertain significance
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 1029446	NM_016343.4(CENPF):c.8385G>A (p.Met2795Ile)	CENPF (M2795I)	Single nucleotide variant (missense variant)	Stromme syndrome	GUncertain significance
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 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 1029442	NM_016343.4(CENPF):c.3242A>T (p.Glu1081Val)	CENPF (E1081V)	Single nucleotide variant (missense variant)	Stromme syndrome	GUncertain significance
Select item 1029441	NM_016343.4(CENPF):c.1323+1G>A	CENPF	Single nucleotide variant (splice donor variant)	Stromme syndrome	GPathogenic
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 931208	NM_016343.4(CENPF):c.8818G>C (p.Glu2940Gln)	CENPF (E2940Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 830331	NM_016343.4(CENPF):c.3424A>G (p.Met1142Val)	CENPF (M1142V)	Single nucleotide variant (missense variant)	Stromme syndrome	GUncertain significance
Select item 785946	NM_016343.4(CENPF):c.9081C>T (p.Leu3027=)	CENPF	Single nucleotide variant (synonymous variant)	Stromme syndrome +1 more	GBenign/Likely benign
Select item 690279	NM_016343.4(CENPF):c.1195-2A>G	CENPF	Single nucleotide variant (splice acceptor variant)	Stromme syndrome	GLikely pathogenic
Select item 623194	NM_016343.4(CENPF):c.7639G>T (p.Glu2547Ter)	CENPF (E2547*)	Single nucleotide variant (nonsense)	Stromme syndrome	GLikely pathogenic
Select item 623193	NM_016343.4(CENPF):c.4189_4192del (p.Asp1397fs)	CENPF (D1397fs)	Deletion (frameshift variant)	Stromme syndrome	GLikely pathogenic
Select item 619138	NM_016343.4(CENPF):c.5920dup (p.Thr1974fs)	CENPF (T1974fs)	Duplication (frameshift variant)	Stromme syndrome	GPathogenic
Select item 591653	NM_016343.4(CENPF):c.4477_4478inv (p.Ser1493Asp)	CENPF (S1493D)	Inversion (missense variant)	Stromme syndrome	GUncertain significance
Select item 561185	NM_016343.4(CENPF):c.2936_2937del (p.Leu979fs)	CENPF (L979fs)	Deletion (frameshift 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 430190	NM_016343.4(CENPF):c.6228G>C (p.Gln2076His)	CENPF (Q2076H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 421569	NM_016343.4(CENPF):c.1026del (p.Glu342fs)	CENPF (E342fs)	Deletion (frameshift variant)	Stromme syndrome +1 more	GLikely pathogenic
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 372665	NM_016343.4(CENPF):c.2186C>T (p.Thr729Ile)	CENPF (T729I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 280183	NM_016343.4(CENPF):c.8033dup (p.Asp2679fs)	CENPF (D2679fs)	Duplication (frameshift variant)	Stromme syndrome +1 more	GPathogenic
Select item 280153	NM_016343.4(CENPF):c.7219C>T (p.Arg2407Ter)	CENPF (R2407*)	Single nucleotide variant (nonsense)	Stromme syndrome +1 more	GPathogenic/Likely pathogenic
Select item 224502	NM_016343.4(CENPF):c.9280C>T (p.Arg3094Ter)	CENPF (R3094*)	Single nucleotide variant (nonsense)	Stromme syndrome	GLikely pathogenic
Select item 224501	NM_016343.4(CENPF):c.171_199del (p.Asn57fs)	CENPF, LOC126806006 (N57fs)	Deletion (frameshift variant)	Stromme syndrome	GPathogenic
Select item 224500	NM_016343.4(CENPF):c.2734G>T (p.Glu912Ter)	CENPF (E912*)	Single nucleotide variant (nonsense)	Stromme syndrome	GPathogenic
Select item 190387	NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter)	CENPF (R2898*)	Single nucleotide variant (nonsense)	Stromme syndrome	GPathogenic
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 190385	NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter)	CENPF (E582*)	Single nucleotide variant (nonsense)	Stromme syndrome +1 more	GPathogenic

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Items: 79