ClinVar for MedGen (Select 340938) - ClinVar

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Items: 67

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24421161.	NM_016343.4(CENPF):c.8159A>G (p.Gln2720Arg) GRCh37: Chr1:214825228 GRCh38: Chr1:214651885	CENPF	Q2720R, Q2816R	Stromme syndrome	Uncertain significance (Jan 24, 2022)	criteria provided, single submitter
Select item 24420632.	NM_016343.4(CENPF):c.2513C>A (p.Ser838Ter) GRCh37: Chr1:214814194 GRCh38: Chr1:214640851	CENPF	S838*	Stromme syndrome	Likely pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 24398973.	NM_016343.4(CENPF):c.2010G>T (p.Met670Ile) GRCh37: Chr1:214813691 GRCh38: Chr1:214640348	CENPF	M670I	Stromme syndrome	Uncertain significance (Jun 9, 2019)	criteria provided, single submitter
Select item 24398964.	NM_016343.4(CENPF):c.6214T>C (p.Ser2072Pro) GRCh37: Chr1:214819127 GRCh38: Chr1:214645784	CENPF	S2072P, S2168P	Stromme syndrome	Uncertain significance (Jul 20, 2021)	criteria provided, single submitter
Select item 21676485.	NM_016343.4(CENPF):c.4925G>A (p.Arg1642Gln) GRCh37: Chr1:214816606 GRCh38: Chr1:214643263	CENPF	R1642Q, R1738Q	Stromme syndrome, not provided	Conflicting interpretations of pathogenicity (May 29, 2022)	criteria provided, conflicting interpretations
Select item 17093796.	NM_016343.4(CENPF):c.1068G>A (p.Lys356=) GRCh37: Chr1:214795624 GRCh38: Chr1:214622281	CENPF		Stromme syndrome	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 13128767.	NM_016343.4(CENPF):c.346C>G (p.Gln116Glu) GRCh37: Chr1:214788358 GRCh38: Chr1:214615015	CENPF, LOC126806006	Q116E	not provided, Stromme syndrome	Uncertain significance (Jan 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12098188.	NM_016343.4(CENPF):c.4461T>G (p.Leu1487=) GRCh37: Chr1:214816142 GRCh38: Chr1:214642799	CENPF		Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12098179.	NM_016343.4(CENPF):c.4235T>C (p.Leu1412Ser) GRCh37: Chr1:214815916 GRCh38: Chr1:214642573	CENPF	L1412S	Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120981610.	NM_016343.4(CENPF):c.3314C>T (p.Thr1105Ile) GRCh37: Chr1:214814995 GRCh38: Chr1:214641652	CENPF	T1105I	Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120981511.	NM_016343.4(CENPF):c.3097G>A (p.Gly1033Arg) GRCh37: Chr1:214814778 GRCh38: Chr1:214641435	CENPF	G1033R	Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120981412.	NM_016343.4(CENPF):c.3052T>G (p.Tyr1018Asp) GRCh37: Chr1:214814733 GRCh38: Chr1:214641390	CENPF	Y1018D	Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120981313.	NM_016343.4(CENPF):c.2890C>T (p.Leu964=) GRCh37: Chr1:214814571 GRCh38: Chr1:214641228	CENPF		Stromme syndrome, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120981214.	NM_016343.4(CENPF):c.2444G>A (p.Arg815His) GRCh37: Chr1:214814125 GRCh38: Chr1:214640782	CENPF	R815H	Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120981115.	NM_016343.4(CENPF):c.2260C>G (p.Gln754Glu) GRCh37: Chr1:214813941 GRCh38: Chr1:214640598	CENPF	Q754E	Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120981016.	NM_016343.4(CENPF):c.2101A>G (p.Met701Val) GRCh37: Chr1:214813782 GRCh38: Chr1:214640439	CENPF	M701V	Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120980917.	NM_016343.4(CENPF):c.1806A>G (p.Leu602=) GRCh37: Chr1:214813487 GRCh38: Chr1:214640144	CENPF		Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120980818.	NM_016343.4(CENPF):c.1482C>G (p.His494Gln) GRCh37: Chr1:214811244 GRCh38: Chr1:214637901	CENPF	H494Q	Stromme syndrome, not provided	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120980719.	NM_016343.4(CENPF):c.33G>A (p.Gly11=) GRCh37: Chr1:214787130 GRCh38: Chr1:214613787	CENPF		Stromme syndrome, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120971920.	NM_016343.4(CENPF):c.9318C>G (p.Asn3106Lys) GRCh37: Chr1:214837110 GRCh38: Chr1:214663767	CENPF	N3106K	Stromme syndrome, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120968321.	NM_016343.4(CENPF):c.8827A>G (p.Arg2943Gly) GRCh37: Chr1:214830617 GRCh38: Chr1:214657274	CENPF	R2943G	Stromme syndrome, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120968222.	NM_016343.4(CENPF):c.8186G>A (p.Arg2729Gln) GRCh37: Chr1:214826196 GRCh38: Chr1:214652853	CENPF	R2729Q	Stromme syndrome, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120968123.	NM_016343.4(CENPF):c.7611T>C (p.Leu2537=) GRCh37: Chr1:214820524 GRCh38: Chr1:214647181	CENPF		Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120968024.	NM_016343.4(CENPF):c.7581G>A (p.Leu2527=) GRCh37: Chr1:214820494 GRCh38: Chr1:214647151	CENPF		Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120967925.	NM_016343.4(CENPF):c.7386A>G (p.Glu2462=) GRCh37: Chr1:214820299 GRCh38: Chr1:214646956	CENPF		Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120967826.	NM_016343.4(CENPF):c.7186A>G (p.Asn2396Asp) GRCh37: Chr1:214820099 GRCh38: Chr1:214646756	CENPF	N2396D	Stromme syndrome, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120967727.	NM_016343.4(CENPF):c.7067C>T (p.Ala2356Val) GRCh37: Chr1:214819980 GRCh38: Chr1:214646637	CENPF	A2356V	Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120967628.	NM_016343.4(CENPF):c.6674A>G (p.Gln2225Arg) GRCh37: Chr1:214819587 GRCh38: Chr1:214646244	CENPF	Q2225R	Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120967529.	NM_016343.4(CENPF):c.6415G>A (p.Ala2139Thr) GRCh37: Chr1:214819328 GRCh38: Chr1:214645985	CENPF	A2139T	Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120967430.	NM_016343.4(CENPF):c.6131C>T (p.Ser2044Leu) GRCh37: Chr1:214819044 GRCh38: Chr1:214645701	CENPF	S2044L	Stromme syndrome, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120967331.	NM_016343.4(CENPF):c.6032A>C (p.Glu2011Ala) GRCh37: Chr1:214818945 GRCh38: Chr1:214645602	CENPF	E2011A	Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120967232.	NM_016343.4(CENPF):c.5933A>G (p.Asp1978Gly) GRCh37: Chr1:214818846 GRCh38: Chr1:214645503	CENPF	D1978G	Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120967133.	NM_016343.4(CENPF):c.5310T>A (p.His1770Gln) GRCh37: Chr1:214818223 GRCh38: Chr1:214644880	CENPF	H1770Q	Stromme syndrome, not provided	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120967034.	NM_016343.4(CENPF):c.5302G>A (p.Asp1768Asn) GRCh37: Chr1:214818215 GRCh38: Chr1:214644872	CENPF	D1768N	Stromme syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120966935.	NM_016343.4(CENPF):c.4543G>A (p.Ala1515Thr) GRCh37: Chr1:214816224 GRCh38: Chr1:214642881	CENPF	A1515T	Stromme syndrome, not provided	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120772036.	NM_016343.4(CENPF):c.5635C>T (p.Arg1879Cys) GRCh37: Chr1:214818548 GRCh38: Chr1:214645205	CENPF	R1879C	not provided, Stromme syndrome	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118670937.	NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr) GRCh37: Chr1:214814925 GRCh38: Chr1:214641582	CENPF	H1082Y	Stromme syndrome, not provided	Benign/Likely benign (Aug 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 104867138.	NM_016343.4(CENPF):c.407A>G (p.Asp136Gly) GRCh37: Chr1:214791963 GRCh38: Chr1:214618620	CENPF	D136G	Stromme syndrome	Uncertain significance	criteria provided, single submitter
Select item 103340639.	NM_016343.4(CENPF):c.7647A>C (p.Gln2549His) GRCh37: Chr1:214820560 GRCh38: Chr1:214647217	CENPF	Q2549H	Stromme syndrome	Uncertain significance (Jul 19, 2018)	criteria provided, single submitter
Select item 103340540.	NM_016343.4(CENPF):c.7307C>T (p.Ser2436Leu) GRCh37: Chr1:214820220 GRCh38: Chr1:214646877	CENPF	S2436L	Inborn genetic diseases, Stromme syndrome	Uncertain significance (Feb 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103273541.	NM_016343.4(CENPF):c.4364A>G (p.Asn1455Ser) GRCh37: Chr1:214816045 GRCh38: Chr1:214642702	CENPF	N1455S	Stromme syndrome	Uncertain significance (Oct 19, 2018)	criteria provided, single submitter
Select item 103273442.	NM_016343.4(CENPF):c.37C>T (p.Pro13Ser) GRCh37: Chr1:214787134 GRCh38: Chr1:214613791	CENPF	P13S	Stromme syndrome	Uncertain significance (Apr 10, 2018)	criteria provided, single submitter
Select item 102944643.	NM_016343.4(CENPF):c.8385G>A (p.Met2795Ile) GRCh37: Chr1:214828646 GRCh38: Chr1:214655303	CENPF	M2795I	Stromme syndrome	Uncertain significance (Sep 27, 2019)	criteria provided, single submitter
Select item 102944544.	NM_016343.4(CENPF):c.7000C>T (p.Leu2334Phe) GRCh37: Chr1:214819913 GRCh38: Chr1:214646570	CENPF	L2334F	Stromme syndrome	Uncertain significance (Dec 24, 2019)	criteria provided, single submitter
Select item 102944345.	NM_016343.4(CENPF):c.4999C>T (p.Arg1667Ter) GRCh37: Chr1:214817912 GRCh38: Chr1:214644569	CENPF	R1667*	Neurodevelopmental delay, Stromme syndrome	Pathogenic/Likely pathogenic (Dec 30, 2019)	criteria provided, multiple submitters, no conflicts
Select item 102944246.	NM_016343.4(CENPF):c.3242A>T (p.Glu1081Val) GRCh37: Chr1:214814923 GRCh38: Chr1:214641580	CENPF	E1081V	Stromme syndrome	Uncertain significance (Sep 22, 2019)	criteria provided, single submitter
Select item 102944147.	NM_016343.4(CENPF):c.1323+1G>A GRCh37: Chr1:214804006 GRCh38: Chr1:214630663	CENPF		Stromme syndrome	Pathogenic (Jan 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93120948.	NM_016343.4(CENPF):c.9200C>T (p.Thr3067Met) GRCh37: Chr1:214836992 GRCh38: Chr1:214663649	CENPF	T3067M	Stromme syndrome	Likely benign (Apr 24, 2019)	criteria provided, single submitter
Select item 93120849.	NM_016343.4(CENPF):c.8818G>C (p.Glu2940Gln) GRCh37: Chr1:214830608 GRCh38: Chr1:214657265	CENPF	E2940Q	not provided, Stromme syndrome	Uncertain significance (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83033150.	NM_016343.4(CENPF):c.3424A>G (p.Met1142Val) GRCh37: Chr1:214815105 GRCh38: Chr1:214641762	CENPF	M1142V	Stromme syndrome	Uncertain significance (Dec 18, 2019)	criteria provided, single submitter
Select item 78594651.	NM_016343.4(CENPF):c.9081C>T (p.Leu3027=) GRCh37: Chr1:214832311 GRCh38: Chr1:214658968	CENPF		not provided, Stromme syndrome	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69027952.	NM_016343.4(CENPF):c.1195-2A>G GRCh37: Chr1:214803875 GRCh38: Chr1:214630532	CENPF		Stromme syndrome	Likely pathogenic (Mar 31, 2019)	criteria provided, single submitter
Select item 62319453.	NM_016343.4(CENPF):c.7639G>T (p.Glu2547Ter) GRCh37: Chr1:214820552 GRCh38: Chr1:214647209	CENPF	E2547*	Stromme syndrome	Likely pathogenic (Jun 14, 2018)	criteria provided, single submitter
Select item 62319354.	NM_016343.4(CENPF):c.4189_4192del (p.Asp1397fs) GRCh37: Chr1:214815868-214815871 GRCh38: Chr1:214642525-214642528	CENPF	D1397fs	Stromme syndrome	Likely pathogenic (Jun 14, 2018)	criteria provided, single submitter
Select item 61913855.	NM_016343.4(CENPF):c.5920dup (p.Thr1974fs) GRCh37: Chr1:214818825-214818826 GRCh38: Chr1:214645482-214645483	CENPF	T1974fs	Stromme syndrome	Pathogenic (Feb 27, 2019)	no assertion criteria provided
Select item 59165356.	NM_016343.4(CENPF):c.4477_4478inv (p.Ser1493Asp) GRCh37: Chr1:214816158-214816159 GRCh38: Chr1:214642815-214642816	CENPF	S1493D	Stromme syndrome	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 56118557.	NM_016343.4(CENPF):c.2936_2937del (p.Leu979fs) GRCh37: Chr1:214814617-214814618 GRCh38: Chr1:214641274-214641275	CENPF	L979fs	Stromme syndrome	Uncertain significance	no assertion criteria provided
Select item 43470458.	NM_016343.4(CENPF):c.3617A>G (p.Tyr1206Cys) GRCh37: Chr1:214815298 GRCh38: Chr1:214641955	CENPF	Y1206C	Stromme syndrome, not provided, not specified	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 43019059.	NM_016343.4(CENPF):c.6228G>C (p.Gln2076His) GRCh37: Chr1:214819141 GRCh38: Chr1:214645798	CENPF	Q2076H	Inborn genetic diseases, Stromme syndrome, not provided	Uncertain significance (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37721560.	NM_016343.4(CENPF):c.7352A>G (p.Asn2451Ser) GRCh37: Chr1:214820265 GRCh38: Chr1:214646922	CENPF	N2451S	not provided, Stromme syndrome	Uncertain significance (Dec 30, 2019)	criteria provided, multiple submitters, no conflicts
Select item 37266561.	NM_016343.4(CENPF):c.2186C>T (p.Thr729Ile) GRCh37: Chr1:214813867 GRCh38: Chr1:214640524	CENPF	T729I	not specified, Stromme syndrome	Uncertain significance (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22450262.	NM_016343.4(CENPF):c.9280C>T (p.Arg3094Ter) GRCh37: Chr1:214837072 GRCh38: Chr1:214663729	CENPF	R3094*	Stromme syndrome	Likely pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 22450163.	NM_016343.4(CENPF):c.171_199del (p.Asn57fs) GRCh37: Chr1:214788177-214788205 GRCh38: Chr1:214614834-214614862	LOC126806006, CENPF	N57fs	Stromme syndrome	Pathogenic (Aug 25, 2017)	no assertion criteria provided
Select item 22450064.	NM_016343.4(CENPF):c.2734G>T (p.Glu912Ter) GRCh37: Chr1:214814415 GRCh38: Chr1:214641072	CENPF	E912*	Stromme syndrome	Pathogenic (Oct 20, 2017)	no assertion criteria provided
Select item 19038765.	NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter) GRCh37: Chr1:214830482 GRCh38: Chr1:214657139	CENPF	R2898*	Stromme syndrome	Pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 19038666.	NM_016343.4(CENPF):c.574-2A>C GRCh37: Chr1:214793996 GRCh38: Chr1:214620653	CENPF		Stromme syndrome	Pathogenic (Mar 1, 2015)	no assertion criteria provided
Select item 19038567.	NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter) GRCh37: Chr1:214813425 GRCh38: Chr1:214640082	CENPF	E582*	Stromme syndrome, not provided	Pathogenic (May 20, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 67