"Illumina Laboratory Services, Illumina"[submitter] AND "IFT140"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 884450	NM_014714.4(IFT140):c.*430G>A	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317974	NM_014714.4(IFT140):c.*429C>T	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 884451	NM_014714.4(IFT140):c.*403G>A	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 317975	NM_014714.4(IFT140):c.*278C>A	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317976	NM_014714.4(IFT140):c.*235C>A	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GBenign
Select item 317977	NM_014714.4(IFT140):c.*226T>G	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 885375	NM_014714.4(IFT140):c.*207C>T	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317978	NM_014714.4(IFT140):c.*158G>C	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317979	NM_014714.4(IFT140):c.*153C>T	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317980	NM_014714.4(IFT140):c.*118G>A	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 885376	NM_014714.4(IFT140):c.*91G>T	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 885377	NM_014714.4(IFT140):c.*63A>G	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 317981	NM_014714.4(IFT140):c.*59T>C	IFT140	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa 80 +2 more	GBenign
Select item 317982	NM_014714.4(IFT140):c.*46T>G	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317983	NM_014714.4(IFT140):c.*23C>T	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 281447	NM_014714.4(IFT140):c.*2G>A	IFT140	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GLikely benign
Select item 317984	NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)	IFT140 (D1461N)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 317985	NM_014714.4(IFT140):c.4380C>T (p.Asp1460=)	IFT140	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 887467	NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)	IFT140 (E1452K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GConflicting classifications of pathogenicity
Select item 887468	NM_014714.4(IFT140):c.4350G>A (p.Leu1450=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 858968	NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys)	IFT140 (R1433C)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 317986	NM_014714.4(IFT140):c.4278G>T (p.Gly1426=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 317987	NM_014714.4(IFT140):c.4277G>A (p.Gly1426Glu)	IFT140 (G1426E)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317988	NM_014714.4(IFT140):c.4266C>T (p.Ala1422=)	IFT140	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887656	NM_014714.4(IFT140):c.4251G>A (p.Pro1417=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 887657	NM_014714.4(IFT140):c.4182+15C>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 317989	NM_014714.4(IFT140):c.4148T>C (p.Val1383Ala)	IFT140 (V1383A)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 887658	NM_014714.4(IFT140):c.4048A>G (p.Thr1350Ala)	IFT140 (T1350A)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 317990	NM_014714.4(IFT140):c.4040+11G>A	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GBenign/Likely benign
Select item 196178	NM_014714.4(IFT140):c.4040+10C>T	IFT140	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 317991	NM_014714.4(IFT140):c.4026C>T (p.Phe1342=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 317992	NM_014714.4(IFT140):c.3993G>C (p.Gln1331His)	IFT140 (Q1331H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 317993	NM_014714.4(IFT140):c.3990G>A (p.Ala1330=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GBenign
Select item 196179	NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)	IFT140 (A1330T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +3 more	GBenign/Likely benign
Select item 266103	NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])	IFT140	Microsatellite (inframe_deletion)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 595534	NM_014714.4(IFT140):c.3874-10A>C	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 317994	NM_014714.4(IFT140):c.3874-11C>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GBenign/Likely benign
Select item 317995	NM_014714.4(IFT140):c.3861C>T (p.Asp1287=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 317996	NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu)	IFT140 (P1263L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GConflicting classifications of pathogenicity
Select item 317997	NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln)	IFT140 (R1260Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 317998	NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr)	IFT140 (I1248T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 317999	NM_014714.4(IFT140):c.3711C>T (p.Phe1237=)	IFT140	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 318000	NM_014714.4(IFT140):c.3693G>A (p.Thr1231=)	IFT140	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885442	NM_014714.4(IFT140):c.3685G>A (p.Gly1229Arg)	IFT140 (G1229R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318001	NM_014714.4(IFT140):c.3684C>T (p.Ser1228=)	IFT140	Single nucleotide variant (synonymous variant)	IFT140-related condition +1 more	GConflicting classifications of pathogenicity
Select item 843963	NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr)	IFT140 (R1223T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 318002	NM_014714.4(IFT140):c.3668G>A (p.Arg1223Lys)	IFT140 (R1223K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318003	NM_014714.4(IFT140):c.3660+13C>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 886468	NM_014714.4(IFT140):c.3650A>G (p.Asn1217Ser)	IFT140 (N1217S)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318004	NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)	IFT140 (R1201H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GConflicting classifications of pathogenicity
Select item 318005	NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu)	IFT140 (Q1194E)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 318006	NM_014714.4(IFT140):c.3566G>A (p.Arg1189Gln)	IFT140 (R1189Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318007	NM_014714.4(IFT140):c.3558G>A (p.Glu1186=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 886469	NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu)	IFT140 (S1181L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 318008	NM_014714.4(IFT140):c.3525C>G (p.Thr1175=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 887715	NM_014714.4(IFT140):c.3513G>A (p.Ala1171=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 318009	NM_014714.4(IFT140):c.3501C>T (p.Thr1167=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 318010	NM_014714.4(IFT140):c.3490A>G (p.Met1164Val)	IFT140 (M1164V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 887716	NM_014714.4(IFT140):c.3403G>A (p.Glu1135Lys)	IFT140 (E1135K)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 318011	NM_014714.4(IFT140):c.3402C>T (p.Ile1134=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 318012	NM_014714.4(IFT140):c.3390C>T (p.Ser1130=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 318013	NM_014714.4(IFT140):c.3385T>C (p.Cys1129Arg)	IFT140 (C1129R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318014	NM_014714.4(IFT140):c.3271-4G>A	IFT140	Single nucleotide variant (intron variant)	IFT140-related condition +1 more	GConflicting classifications of pathogenicity
Select item 718928	NM_014714.4(IFT140):c.3252G>A (p.Ala1084=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 886534	NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)	IFT140 (R1072Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 129261	NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val)	IFT140 (A1070V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 886535	NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn)	IFT140 (D1053N)	Single nucleotide variant (missense variant)	IFT140-related condition +2 more	GUncertain significance
Select item 318034	NM_014714.4(IFT140):c.3147C>T (p.Asn1049=)	IFT140	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 887781	NM_014714.4(IFT140):c.3086C>T (p.Ala1029Val)	IFT140, LOC126862260 (A1029V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318039	NM_014714.4(IFT140):c.3079G>A (p.Gly1027Arg)	IFT140, LOC126862260 (G1027R)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GBenign
Select item 887782	NM_014714.4(IFT140):c.2997+8C>G	IFT140, LOC126862260	Single nucleotide variant (intron variant)	IFT140-related condition +1 more	GConflicting classifications of pathogenicity
Select item 465317	NM_014714.4(IFT140):c.2988T>C (p.Asn996=)	LOC126862260, IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GBenign/Likely benign
Select item 318040	NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys)	IFT140, LOC126862260 (E979K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 129260	NM_014714.4(IFT140):c.2919C>T (p.Ala973=)	LOC126862260, IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +3 more	GBenign
Select item 318041	NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys)	IFT140, LOC126862260 (E970K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GUncertain significance
Select item 318042	NM_014714.4(IFT140):c.2817G>A (p.Ser939=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 283368	NM_014714.4(IFT140):c.2787G>A (p.Thr929=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 318043	NM_014714.4(IFT140):c.2781G>A (p.Ser927=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 885573	NM_014714.4(IFT140):c.2768+12C>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 885574	NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly)	IFT140 (R919G)	Single nucleotide variant (missense variant)	IFT140-related condition +2 more	GConflicting classifications of pathogenicity
Select item 772459	NM_014714.4(IFT140):c.2742C>T (p.Ser914=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +2 more	GBenign/Likely benign
Select item 790139	NM_014714.4(IFT140):c.2724C>T (p.Ala908=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 885575	NM_014714.4(IFT140):c.2709C>T (p.Thr903=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 885576	NM_014714.4(IFT140):c.2692G>A (p.Val898Met)	IFT140 (V898M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 318047	NM_014714.4(IFT140):c.2682_2683insA (p.His895fs)	IFT140 (H895fs)	Insertion (frameshift variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318048	NM_014714.4(IFT140):c.2682C>A (p.His894Gln)	IFT140 (H894Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GUncertain significance
Select item 318049	NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp)	IFT140 (R884W)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 886604	NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)	IFT140 (A882V)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 318050	NM_014714.4(IFT140):c.2586C>T (p.Ala862=)	IFT140	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318051	NM_014714.4(IFT140):c.2578-13C>T	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318053	NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser)	IFT140 (G857S)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GBenign/Likely benign
Select item 318054	NM_014714.4(IFT140):c.2561C>T (p.Thr854Met)	IFT140 (T854M)	Single nucleotide variant (missense variant)	IFT140-related condition +1 more	GConflicting classifications of pathogenicity
Select item 318055	NM_014714.4(IFT140):c.2550C>T (p.Ala850=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GBenign
Select item 284345	NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys)	IFT140 (R848C)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 445742	NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln)	IFT140 (R834Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 887855	NM_014714.4(IFT140):c.2488G>A (p.Ala830Thr)	IFT140 (A830T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318056	NM_014714.4(IFT140):c.2454C>T (p.Asp818=)	IFT140	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 318057	NM_014714.4(IFT140):c.2424G>A (p.Ala808=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 318058	NM_014714.4(IFT140):c.2423C>T (p.Ala808Val)	IFT140 (A808V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 318181	NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg)	IFT140 (L777R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GBenign/Likely benign

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