ClinVar for MedGen (Select 341455) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3020035	NM_014714.4(IFT140):c.369+15G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 3019721	NM_014714.4(IFT140):c.1542CCT[1] (p.Leu516del)	IFT140 (L516del)	Microsatellite (inframe_deletion)	Saldino-Mainzer syndrome	GUncertain significance
Select item 3018090	NM_014714.4(IFT140):c.236G>T (p.Gly79Val)	IFT140, LOC105371046 (G79V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 3017464	NM_014714.4(IFT140):c.213G>A (p.Pro71=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 3017171	NM_014714.4(IFT140):c.2577+14G>A	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 3017097	NM_014714.4(IFT140):c.3453+20T>G	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 3016510	NM_014714.4(IFT140):c.1525-2_1525-1del	IFT140	Deletion (splice acceptor variant)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 3013822	NM_014714.4(IFT140):c.732A>C (p.Ala244=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 3008537	NM_014714.4(IFT140):c.148-17C>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 3004379	NM_014714.4(IFT140):c.4143C>T (p.Phe1381=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 3002260	NM_014714.4(IFT140):c.913A>G (p.Ile305Val)	IFT140, LOC105371046 (I305V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 3000534	NM_014714.4(IFT140):c.190G>C (p.Val64Leu)	LOC105371046, IFT140 (V64L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 3000264	NM_014714.4(IFT140):c.3369T>C (p.Pro1123=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2999394	NM_014714.4(IFT140):c.1998G>A (p.Val666=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2997638	NM_014714.4(IFT140):c.405G>A (p.Arg135=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2997285	NM_014714.4(IFT140):c.1605T>C (p.Val535=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2994171	NM_014714.4(IFT140):c.2500C>A (p.Arg834=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2983866	NM_014714.4(IFT140):c.1318C>T (p.Leu440=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2983823	NM_014714.4(IFT140):c.2226G>A (p.Glu742=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2980742	NM_014714.4(IFT140):c.3565C>A (p.Arg1189=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2977429	NM_014714.4(IFT140):c.3222C>T (p.Tyr1074=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2976642	NM_014714.4(IFT140):c.2016C>G (p.Ser672=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2973568	NM_014714.4(IFT140):c.2628C>T (p.Asn876=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2972492	NM_014714.4(IFT140):c.2997+8C>A	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2969909	NM_014714.4(IFT140):c.2864+18G>T	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2968692	NM_014714.4(IFT140):c.2475G>T (p.Gly825=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2965681	NM_014714.4(IFT140):c.1118C>T (p.Thr373Ile)	IFT140, LOC105371046 (T373I)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2961035	NM_014714.4(IFT140):c.2006C>T (p.Thr669Met)	IFT140 (T669M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2960849	NM_014714.4(IFT140):c.1055G>A (p.Arg352Lys)	IFT140, LOC105371046 (R352K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2960802	NM_014714.4(IFT140):c.369+11_369+12del	IFT140, LOC105371046	Microsatellite (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2915556	NM_014714.4(IFT140):c.3270+15C>G	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2914665	NM_014714.4(IFT140):c.1432+20A>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2913951	NM_014714.4(IFT140):c.2869C>T (p.Leu957=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2912003	NM_014714.4(IFT140):c.1901+8T>C	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2910387	NM_014714.4(IFT140):c.3060C>G (p.Tyr1020Ter)	IFT140, LOC126862260 (Y1020*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome	GPathogenic
Select item 2909004	NM_014714.4(IFT140):c.1866A>G (p.Arg622=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2907557	NM_014714.4(IFT140):c.188G>A (p.Arg63Gln)	IFT140, LOC105371046 (R63Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2907095	NM_014714.4(IFT140):c.1383A>C (p.Gly461=)	LOC105371046, IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2905301	NM_014714.4(IFT140):c.2829G>C (p.Pro943=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2904476	NM_014714.4(IFT140):c.2864+19_2864+27del	IFT140, LOC126862260	Deletion (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2902466	NM_014714.4(IFT140):c.2142T>C (p.Pro714=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2900145	NM_014714.4(IFT140):c.3552T>C (p.Pro1184=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2899573	NM_014714.4(IFT140):c.3543G>C (p.Ser1181=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2899001	NM_014714.4(IFT140):c.4308C>T (p.Pro1436=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2898944	NM_014714.4(IFT140):c.3924C>T (p.Thr1308=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2892671	NM_014714.4(IFT140):c.382C>G (p.Leu128Val)	IFT140, LOC105371046 (L128V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2892334	NM_014714.4(IFT140):c.1009+17T>C	LOC105371046, IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2891243	NM_014714.4(IFT140):c.1901+14T>A	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2890542	NM_014714.4(IFT140):c.2T>C (p.Met1Thr)	IFT140, LOC105371046 (M1T)	Single nucleotide variant (missense variant +1 more)	Saldino-Mainzer syndrome	GPathogenic
Select item 2888758	NM_014714.4(IFT140):c.420G>A (p.Gly140=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2887813	NM_014714.4(IFT140):c.1360-13T>C	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2886116	NM_014714.4(IFT140):c.2646G>C (p.Ala882=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2884653	NM_014714.4(IFT140):c.1203G>A (p.Val401=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2884460	NM_014714.4(IFT140):c.700C>A (p.Gln234Lys)	IFT140, LOC105371046 (Q234K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2882083	NM_014714.4(IFT140):c.2997+2T>C	IFT140, LOC126862260	Single nucleotide variant (splice donor variant)	Saldino-Mainzer syndrome	GLikely pathogenic
Select item 2880893	NM_014714.4(IFT140):c.2886G>T (p.Ala962=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2873951	NM_014714.4(IFT140):c.78C>G (p.Val26=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2872980	NM_014714.4(IFT140):c.3454-19C>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2870110	NM_014714.4(IFT140):c.4211G>A (p.Arg1404Gln)	IFT140 (R1404Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2859363	NM_014714.4(IFT140):c.792A>G (p.Lys264=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2858569	NM_014714.4(IFT140):c.4207del (p.Arg1403fs)	IFT140 (R1403fs)	Deletion (frameshift variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2856661	NM_014714.4(IFT140):c.1806C>T (p.Tyr602=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2855322	NM_014714.4(IFT140):c.910del (p.Asp304fs)	IFT140, LOC105371046 (D304fs)	Deletion (frameshift variant)	Saldino-Mainzer syndrome	GPathogenic
Select item 2854745	NM_014714.4(IFT140):c.3141+15G>C	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2853828	NM_014714.4(IFT140):c.3869C>T (p.Ala1290Val)	IFT140 (A1290V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2852835	NM_014714.4(IFT140):c.2835G>C (p.Leu945=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2846683	NM_014714.4(IFT140):c.986G>A (p.Cys329Tyr)	IFT140, LOC105371046 (C329Y)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2844193	NM_014714.4(IFT140):c.3141+16G>T	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2842973	NM_014714.4(IFT140):c.2292del (p.Leu765fs)	IFT140 (L765fs)	Deletion (frameshift variant)	Saldino-Mainzer syndrome	GPathogenic
Select item 2840020	NM_014714.4(IFT140):c.378del (p.Leu127fs)	IFT140, LOC105371046 (L127fs)	Deletion (frameshift variant)	Saldino-Mainzer syndrome	GPathogenic
Select item 2839537	NM_014714.4(IFT140):c.147+13A>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2837531	NM_014714.4(IFT140):c.1734C>T (p.Ser578=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2836091	NM_014714.4(IFT140):c.2068-7C>G	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2827904	NM_014714.4(IFT140):c.634+13G>C	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2827452	NM_014714.4(IFT140):c.3219C>T (p.Tyr1073=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2826413	NM_014714.4(IFT140):c.4040+14G>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2826129	NM_014714.4(IFT140):c.2400-1G>A	IFT140	Single nucleotide variant (splice acceptor variant)	Saldino-Mainzer syndrome	GLikely pathogenic
Select item 2825493	NM_014714.4(IFT140):c.2865-15T>C	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2825175	NM_014714.4(IFT140):c.1038G>C (p.Gly346=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2824166	NM_014714.4(IFT140):c.3123T>C (p.Asn1041=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2823929	NM_014714.4(IFT140):c.2931C>T (p.Tyr977=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2817622	NM_014714.4(IFT140):c.3381C>G (p.Ala1127=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2817454	NM_014714.4(IFT140):c.1524+19G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2815083	NM_014714.4(IFT140):c.94G>C (p.Val32Leu)	IFT140, LOC105371046 (V32L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2806234	NM_014714.4(IFT140):c.370-10G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2805980	NM_014714.4(IFT140):c.1009+10C>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 2805499	NM_014714.4(IFT140):c.2868C>T (p.Thr956=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2803523	NM_014714.4(IFT140):c.4183-19G>A	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2803324	NM_014714.4(IFT140):c.2864+2T>C	IFT140, LOC126862260	Single nucleotide variant (splice donor variant)	Saldino-Mainzer syndrome	GLikely pathogenic
Select item 2801031	NM_014714.4(IFT140):c.3272C>G (p.Ala1091Gly)	IFT140 (A1091G)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2798794	NM_014714.4(IFT140):c.2923C>T (p.Leu975=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2798254	NM_014714.4(IFT140):c.2769-11T>G	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2797484	NM_014714.4(IFT140):c.816G>A (p.Lys272=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2795382	NM_014714.4(IFT140):c.4041-19T>C	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2794077	NM_014714.4(IFT140):c.939G>C (p.Leu313=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2794038	NM_014714.4(IFT140):c.1125C>G (p.Thr375=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2790026	NM_014714.4(IFT140):c.2572A>T (p.Met858Leu)	IFT140 (M858L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2789298	NM_014714.4(IFT140):c.3942G>A (p.Leu1314=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2786158	NM_014714.4(IFT140):c.1525-74_1525-14del	IFT140	Deletion (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2785691	NM_014714.4(IFT140):c.2331C>T (p.Leu777=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign

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