Related gene-specific medical variations for Gene (Select 9742) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326935	NM_024600.6(TMEM204):c.272C>T (p.Thr91Ile)	IFT140, TMEM204 (T91I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326933	NM_024600.6(TMEM204):c.173G>T (p.Gly58Val)	IFT140, TMEM204 (G58V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326932	NM_024600.6(TMEM204):c.585G>T (p.Glu195Asp)	IFT140, TMEM204 (E195D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326931	NM_024600.6(TMEM204):c.274G>A (p.Val92Ile)	IFT140, TMEM204 (V92I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326930	NM_024600.6(TMEM204):c.7G>A (p.Val3Met)	IFT140, TMEM204 (V3M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285418	NM_014714.4(IFT140):c.14A>G (p.Tyr5Cys)	IFT140, LOC105371046 (Y5C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285416	NM_014714.4(IFT140):c.2900G>T (p.Ser967Ile)	IFT140, LOC126862260 (S967I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243432	NC_000016.9:g.(?_1608740)_(1652441_?)del	IFT140	Deletion	Saldino-Mainzer syndrome	GPathogenic
Select item 3243431	NC_000016.9:g.(?_1642157)_(1657267_?)dup	IFT140	Duplication	Saldino-Mainzer syndrome	GUncertain significance
Select item 3236413	NM_014714.4(IFT140):c.648T>G (p.Tyr216Ter)	IFT140, LOC105371046 (Y216*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome	GLikely pathogenic
Select item 3236243	NM_014714.4(IFT140):c.35del (p.Pro12fs)	IFT140, LOC105371046 (P12fs)	Deletion (frameshift variant)	Retinitis pigmentosa 80	GLikely pathogenic
Select item 3234075	NM_014714.4(IFT140):c.168_171del (p.His57fs)	LOC105371046, IFT140 (H57fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 80	GLikely pathogenic
Select item 3179129	NM_024600.6(TMEM204):c.379C>G (p.Leu127Val)	IFT140, TMEM204 (L127V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179128	NM_024600.6(TMEM204):c.176C>T (p.Pro59Leu)	IFT140, TMEM204 (P59L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3108378	NM_014714.4(IFT140):c.896C>G (p.Ala299Gly)	IFT140, LOC105371046 (A299G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108377	NM_014714.4(IFT140):c.538G>A (p.Ala180Thr)	IFT140, LOC105371046 (A180T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108376	NM_014714.4(IFT140):c.461A>G (p.His154Arg)	IFT140, LOC105371046 (H154R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108367	NM_014714.4(IFT140):c.290C>T (p.Thr97Met)	IFT140, LOC105371046 (T97M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108364	NM_014714.4(IFT140):c.140T>G (p.Leu47Arg)	IFT140, LOC105371046 (L47R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068419	NM_014714.4(IFT140):c.1041_1042del (p.Val348fs)	IFT140, LOC105371046 (V348fs)	Deletion (frameshift variant)	Retinitis pigmentosa 80	GLikely pathogenic
Select item 3066359	NM_014714.4(IFT140):c.1496_1505del (p.Ser499fs)	IFT140, LOC105371046 (S499fs)	Deletion (frameshift variant)	Retinitis pigmentosa 80	GLikely pathogenic
Select item 3066099	NM_014714.4(IFT140):c.984_985insG (p.Cys329fs)	IFT140, LOC105371046 (C329fs)	Insertion (frameshift variant)	Retinitis pigmentosa 80	GLikely pathogenic
Select item 3055386	NM_014714.4(IFT140):c.1015C>T (p.Leu339=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	IFT140-related disorder	GLikely benign
Select item 3045304	NM_014714.4(IFT140):c.902+87T>C	IFT140, LOC105371046	Single nucleotide variant (intron variant)	IFT140-related disorder	GLikely benign
Select item 3028354	NM_014714.4(IFT140):c.83C>A (p.Pro28Gln)	IFT140, LOC105371046 (P28Q)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028353	NM_014714.4(IFT140):c.327C>A (p.Leu109=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028351	NM_014714.4(IFT140):c.340A>G (p.Ser114Gly)	IFT140, LOC105371046 (S114G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028350	NM_014714.4(IFT140):c.674A>G (p.Gln225Arg)	IFT140, LOC105371046 (Q225R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028349	NM_014714.4(IFT140):c.841G>T (p.Ala281Ser)	IFT140, LOC105371046 (A281S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028347	NM_014714.4(IFT140):c.992G>A (p.Cys331Tyr)	IFT140, LOC105371046 (C331Y)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028346	NM_014714.4(IFT140):c.1405C>A (p.Leu469Ile)	IFT140, LOC105371046 (L469I)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely benign
Select item 3028345	NM_014714.4(IFT140):c.1456G>A (p.Val486Met)	IFT140, LOC105371046 (V486M)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 3028334	NM_014714.4(IFT140):c.2772C>G (p.Tyr924Ter)	IFT140, LOC126862260 (Y924*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3028333	NM_014714.4(IFT140):c.2963del (p.Val988fs)	IFT140, LOC126862260 (V988fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3028332	NM_014714.4(IFT140):c.3014_3021del (p.Asn1005fs)	IFT140, LOC126862260 (N1005fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028331	NM_014714.4(IFT140):c.3076G>T (p.Val1026Phe)	IFT140, LOC126862260 (V1026F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028330	NM_014714.4(IFT140):c.3135G>A (p.Leu1045=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
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 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 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 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 2997638	NM_014714.4(IFT140):c.405G>A (p.Arg135=)	IFT140, LOC105371046	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 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 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 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 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 2910387	NM_014714.4(IFT140):c.3060C>G (p.Tyr1020Ter)	IFT140, LOC126862260 (Y1020*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome	GPathogenic
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 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 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 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 2859363	NM_014714.4(IFT140):c.792A>G (p.Lys264=)	IFT140, LOC105371046	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 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 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 2827904	NM_014714.4(IFT140):c.634+13G>C	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
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 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 2803324	NM_014714.4(IFT140):c.2864+2T>C	IFT140, LOC126862260	Single nucleotide variant (splice donor variant)	Saldino-Mainzer syndrome	GLikely pathogenic
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 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 2756704	NM_014714.4(IFT140):c.1221G>C (p.Arg407=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2751271	NM_014714.4(IFT140):c.1089A>G (p.Ala363=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2744622	NM_014714.4(IFT140):c.1073_1083del (p.Leu358fs)	IFT140, LOC105371046 (L358fs)	Deletion (frameshift variant)	Saldino-Mainzer syndrome	GPathogenic
Select item 2742008	NM_014714.4(IFT140):c.912C>T (p.Asp304=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2740688	NM_014714.4(IFT140):c.811-2A>G	IFT140, LOC105371046	Single nucleotide variant (splice acceptor variant)	Saldino-Mainzer syndrome	GLikely pathogenic
Select item 2738844	NM_014714.4(IFT140):c.2824C>G (p.Leu942Val)	LOC126862260, IFT140 (L942V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2733536	NM_014714.4(IFT140):c.2864+19G>A	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2733348	NM_014714.4(IFT140):c.1362T>C (p.Asp454=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign

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