ClinVar for MedGen (Select 337969) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247743	NC_000022.10:g.(?_32891460)_(32894517_?)del	FBXO7	Deletion	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 3247732	NC_000022.10:g.(?_32894111)_(32894517_?)del	FBXO7	Deletion	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 3023505	NM_012179.4(FBXO7):c.1494A>G (p.Arg498=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 3019202	NM_012179.4(FBXO7):c.969A>G (p.Ala323=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 3018336	NM_012179.4(FBXO7):c.378A>G (p.Gly126=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 3017332	NM_012179.4(FBXO7):c.1302T>C (p.Phe434=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 3017012	NM_012179.4(FBXO7):c.417+7A>G	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 3015371	NM_012179.4(FBXO7):c.1278C>T (p.Pro426=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 3014910	NM_012179.4(FBXO7):c.729C>T (p.Cys243=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 3014854	NM_012179.4(FBXO7):c.1251G>A (p.Ser417=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 3013735	NM_012179.4(FBXO7):c.603G>A (p.Val201=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 3009452	NM_012179.4(FBXO7):c.795A>G (p.Leu265=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 3009233	NM_012179.4(FBXO7):c.967+17T>C	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 3008606	NM_012179.4(FBXO7):c.968-16_968-14del	FBXO7	Deletion (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 3006270	NM_012179.4(FBXO7):c.930C>T (p.Asp310=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2995501	NM_012179.4(FBXO7):c.1041G>A (p.Leu347=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2994368	NM_012179.4(FBXO7):c.122+17G>A	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2994267	NM_012179.4(FBXO7):c.846A>G (p.Glu282=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2993245	NM_012179.4(FBXO7):c.744T>C (p.Ala248=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2990623	NM_012179.4(FBXO7):c.1026G>C (p.Arg342=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2989045	NM_012179.4(FBXO7):c.741C>T (p.Ser247=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2985331	NM_012179.4(FBXO7):c.90G>A (p.Leu30=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2982851	NM_012179.4(FBXO7):c.1144+19T>C	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2979198	NM_012179.4(FBXO7):c.666G>C (p.Leu222=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2978895	NM_012179.4(FBXO7):c.788-17_788-13del	FBXO7	Deletion (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2977139	NM_012179.4(FBXO7):c.1451del (p.Pro484fs)	FBXO7 (P370fs +2 more)	Deletion (frameshift variant)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2973701	NM_012179.4(FBXO7):c.792A>G (p.Thr264=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2973549	NM_012179.4(FBXO7):c.630A>G (p.Ser210=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2971820	NM_012179.4(FBXO7):c.1182+12T>A	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2965815	NM_012179.4(FBXO7):c.872-7A>T	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2964444	NM_012179.4(FBXO7):c.84G>A (p.Ser28=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2963971	NM_012179.4(FBXO7):c.1413G>A (p.Thr471=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2962200	NM_012179.4(FBXO7):c.1183-20T>C	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2960687	NM_012179.4(FBXO7):c.2T>A (p.Met1Lys)	FBXO7 (M1K)	Single nucleotide variant (missense variant +1 more)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2960441	NM_012179.4(FBXO7):c.894C>T (p.Tyr298=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2960440	NM_012179.4(FBXO7):c.893_894insT (p.Lys299fs)	FBXO7 (K185fs +2 more)	Insertion (frameshift variant)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2959562	NM_012179.4(FBXO7):c.1416C>T (p.Pro472=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2959104	NM_012179.4(FBXO7):c.418-2A>T	FBXO7	Single nucleotide variant (splice acceptor variant)	Parkinsonian-pyramidal syndrome	GLikely pathogenic
Select item 2959020	NM_012179.4(FBXO7):c.675G>A (p.Pro225=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2920484	NM_012179.4(FBXO7):c.873G>A (p.Gly291=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2920268	NM_012179.4(FBXO7):c.45G>A (p.Glu15=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2919203	NM_012179.4(FBXO7):c.1183-19_1183-16del	FBXO7	Deletion (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2917518	NM_012179.4(FBXO7):c.1155C>G (p.Val385=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2916917	NM_012179.4(FBXO7):c.1071G>A (p.Ala357=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2916616	NM_012179.4(FBXO7):c.468T>C (p.His156=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2916108	NM_012179.4(FBXO7):c.2T>G (p.Met1Arg)	FBXO7 (M1R)	Single nucleotide variant (missense variant +1 more)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2915599	NM_012179.4(FBXO7):c.645+13A>G	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2915527	NM_012179.4(FBXO7):c.1408G>T (p.Glu470Ter)	FBXO7 (E356* +2 more)	Single nucleotide variant (nonsense)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2914242	NM_012179.4(FBXO7):c.418-2A>G	FBXO7	Single nucleotide variant (splice acceptor variant)	Parkinsonian-pyramidal syndrome	GLikely pathogenic
Select item 2914111	NM_012179.4(FBXO7):c.645+12A>G	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2913637	NM_012179.4(FBXO7):c.788-9dup	FBXO7	Duplication (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2912231	NM_012179.4(FBXO7):c.72G>A (p.Gly24=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2911981	NM_012179.4(FBXO7):c.1141C>T (p.Arg381Ter)	FBXO7 (R267* +2 more)	Single nucleotide variant (nonsense)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2911478	NM_012179.4(FBXO7):c.967+14T>C	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2910949	NM_012179.4(FBXO7):c.1368T>C (p.Tyr456=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2910091	NM_012179.4(FBXO7):c.978A>G (p.Leu326=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2909762	NM_012179.4(FBXO7):c.917_918del (p.Arg306fs)	FBXO7 (R227fs +2 more)	Deletion (frameshift variant)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2908307	NM_012179.4(FBXO7):c.1144+10G>A	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2907634	NM_012179.4(FBXO7):c.345G>C (p.Met115Ile)	FBXO7 (M1I +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2906959	NM_012179.4(FBXO7):c.579T>C (p.Ser193=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2906647	NM_012179.4(FBXO7):c.444T>C (p.Ala148=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2904714	NM_012179.4(FBXO7):c.1183-7T>C	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2904348	NM_012179.4(FBXO7):c.645+19A>T	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2901900	NM_012179.4(FBXO7):c.787+14A>G	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2901675	NM_012179.4(FBXO7):c.1269A>G (p.Pro423=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2900056	NM_012179.4(FBXO7):c.821_822del (p.Val274fs)	FBXO7 (V160fs +2 more)	Microsatellite (frameshift variant)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2897940	NM_012179.4(FBXO7):c.249A>G (p.Pro83=)	FBXO7	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2896396	NM_012179.4(FBXO7):c.465G>T (p.Ala155=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2895976	NM_012179.4(FBXO7):c.354A>G (p.Glu118=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2892850	NM_012179.4(FBXO7):c.787+11A>G	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2892454	NM_012179.4(FBXO7):c.33C>G (p.Thr11=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2890348	NM_012179.4(FBXO7):c.1392C>T (p.Leu464=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2888923	NM_012179.4(FBXO7):c.1314C>T (p.Arg438=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2887235	NM_012179.4(FBXO7):c.1A>C (p.Met1Leu)	FBXO7 (M1L)	Single nucleotide variant (missense variant +1 more)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2886856	NM_012179.4(FBXO7):c.967+9T>C	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2886766	NM_012179.4(FBXO7):c.1062T>G (p.Ser354=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2885643	NM_012179.4(FBXO7):c.1183-7del	FBXO7	Deletion (intron variant)	Parkinsonian-pyramidal syndrome	GBenign
Select item 2884317	NM_012179.4(FBXO7):c.377del (p.Gly126fs)	FBXO7 (G12fs +2 more)	Deletion (frameshift variant)	Parkinsonian-pyramidal syndrome	GPathogenic
Select item 2881211	NM_012179.4(FBXO7):c.801C>A (p.Ile267=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2879306	NM_012179.4(FBXO7):c.1491G>A (p.Gly497=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2878791	NM_012179.4(FBXO7):c.156C>T (p.Tyr52=)	FBXO7	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2878064	NM_012179.4(FBXO7):c.426T>C (p.Pro142=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2875957	NM_012179.4(FBXO7):c.411C>T (p.Asp137=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2873863	NM_012179.4(FBXO7):c.1053C>T (p.Ser351=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2873781	NM_012179.4(FBXO7):c.968-10_968-9del	FBXO7	Deletion (intron variant)	Parkinsonian-pyramidal syndrome	GBenign
Select item 2873143	NM_012179.4(FBXO7):c.1215A>G (p.Glu405=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2871567	NM_012179.4(FBXO7):c.1299A>G (p.Pro433=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2869580	NM_012179.4(FBXO7):c.432A>G (p.Gln144=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2867746	NM_012179.4(FBXO7):c.1145-20T>G	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2867097	NM_012179.4(FBXO7):c.987A>G (p.Val329=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2866016	NM_012179.4(FBXO7):c.531G>A (p.Gly177=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2865730	NM_012179.4(FBXO7):c.872-4C>A	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2864198	NM_012179.4(FBXO7):c.1470A>G (p.Gly490=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2857664	NM_012179.4(FBXO7):c.1248A>G (p.Pro416=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2855299	NM_012179.4(FBXO7):c.788-15_788-13del	FBXO7	Deletion (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2854837	NM_012179.4(FBXO7):c.968-18C>G	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2853098	NM_012179.4(FBXO7):c.879T>C (p.Asn293=)	FBXO7	Single nucleotide variant (synonymous variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2851573	NM_012179.4(FBXO7):c.123-20T>G	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2848674	NM_012179.4(FBXO7):c.1183-10T>A	FBXO7	Single nucleotide variant (intron variant)	Parkinsonian-pyramidal syndrome	GLikely benign
Select item 2848296	NM_012179.4(FBXO7):c.872-9dup	FBXO7	Duplication (intron variant)	Parkinsonian-pyramidal syndrome	GBenign

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