Related gene-specific medical variations for Gene (Select 126862260) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 167

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2844193	NM_014714.4(IFT140):c.3141+16G>T	IFT140, LOC126862260	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 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 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 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 2731208	NM_014714.4(IFT140):c.3099C>T (p.Tyr1033=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 2720878	NM_014714.4(IFT140):c.3057G>A (p.Gln1019=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2704408	NM_014714.4(IFT140):c.2970C>A (p.Ile990=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2585083	NM_014714.4(IFT140):c.2990T>C (p.Val997Ala)	IFT140, LOC126862260 (V997A)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2576858	NM_014714.4(IFT140):c.3004C>G (p.Gln1002Glu)	LOC126862260, IFT140 (Q1002E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2518175	NM_014714.4(IFT140):c.3002C>T (p.Ala1001Val)	IFT140, LOC126862260 (A1001V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2418972	NM_014714.4(IFT140):c.3080G>C (p.Gly1027Ala)	IFT140, LOC126862260 (G1027A)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2201741	NM_014714.4(IFT140):c.2997+12G>C	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2195879	NM_014714.4(IFT140):c.2966G>C (p.Arg989Pro)	IFT140, LOC126862260 (R989P)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2185967	NM_014714.4(IFT140):c.3078C>T (p.Val1026=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2183346	NM_014714.4(IFT140):c.3130C>T (p.Arg1044Cys)	IFT140, LOC126862260 (R1044C)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2165305	NM_014714.4(IFT140):c.3031G>A (p.Ala1011Thr)	IFT140, LOC126862260 (A1011T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2157497	NM_014714.4(IFT140):c.3006A>G (p.Gln1002=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2143229	NM_014714.4(IFT140):c.3053G>A (p.Arg1018His)	IFT140, LOC126862260 (R1018H)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2125186	NM_014714.4(IFT140):c.2825T>C (p.Leu942Pro)	IFT140, LOC126862260 (L942P)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2121843	NM_014714.4(IFT140):c.2947G>C (p.Asp983His)	IFT140, LOC126862260 (D983H)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2115852	NM_014714.4(IFT140):c.2998-14C>A	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2115570	NM_014714.4(IFT140):c.2987del (p.Asn996fs)	LOC126862260, IFT140 (N996fs)	Deletion (frameshift variant)	Saldino-Mainzer syndrome	GPathogenic
Select item 2113239	NM_014714.4(IFT140):c.2904G>A (p.Gln968=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2104572	NM_014714.4(IFT140):c.2997+20G>A	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2085636	NM_014714.4(IFT140):c.2865-8G>T	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2079989	NM_014714.4(IFT140):c.2997+6G>T	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2060131	NM_014714.4(IFT140):c.2875C>T (p.Arg959Trp)	IFT140, LOC126862260 (R959W)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2054967	NM_014714.4(IFT140):c.2788C>T (p.His930Tyr)	IFT140, LOC126862260 (H930Y)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2044202	NM_014714.4(IFT140):c.2800G>T (p.Val934Leu)	IFT140, LOC126862260 (V934L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2040041	NM_014714.4(IFT140):c.2966G>A (p.Arg989His)	IFT140, LOC126862260 (R989H)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 2028104	NM_014714.4(IFT140):c.2997+1G>C	IFT140, LOC126862260	Single nucleotide variant (splice donor variant)	Saldino-Mainzer syndrome	GLikely pathogenic
Select item 2018324	NM_014714.4(IFT140):c.2769-15C>T	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 2016853	NM_014714.4(IFT140):c.3053G>T (p.Arg1018Leu)	IFT140, LOC126862260 (R1018L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1975055	NM_014714.4(IFT140):c.2865-18G>T	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1971408	NM_014714.4(IFT140):c.3036C>T (p.Ala1012=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1961943	NM_014714.4(IFT140):c.2997+18G>A	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1945043	NM_014714.4(IFT140):c.3068AGG[2] (p.Glu1025del)	IFT140, LOC126862260 (E1025del)	Microsatellite (inframe_deletion)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1939238	NM_014714.4(IFT140):c.3027C>T (p.Asn1009=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1931295	NM_014714.4(IFT140):c.2868C>A (p.Thr956=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1929994	NM_014714.4(IFT140):c.2839C>A (p.Leu947Ile)	IFT140, LOC126862260 (L947I)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1924378	NM_014714.4(IFT140):c.3032C>T (p.Ala1011Val)	IFT140, LOC126862260 (A1011V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1899876	NM_014714.4(IFT140):c.2926C>A (p.His976Asn)	IFT140, LOC126862260 (H976N)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1713836	NM_014714.4(IFT140):c.3059A>G (p.Tyr1020Cys)	IFT140, LOC126862260 (Y1020C)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1655389	NM_014714.4(IFT140):c.3141+13C>T	LOC126862260, IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1650998	NM_014714.4(IFT140):c.2997+11C>T	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1650383	NM_014714.4(IFT140):c.3087G>A (p.Ala1029=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1647188	NM_014714.4(IFT140):c.3003G>T (p.Ala1001=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 80 +1 more	GLikely benign
Select item 1636285	NM_014714.4(IFT140):c.2865-4G>A	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1635618	NM_014714.4(IFT140):c.2814G>C (p.Leu938=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1631659	NM_014714.4(IFT140):c.2934C>T (p.Tyr978=)	LOC126862260, IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1615128	NM_014714.4(IFT140):c.3060C>T (p.Tyr1020=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1613650	NM_014714.4(IFT140):c.2998-4C>T	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1607002	NM_014714.4(IFT140):c.3129C>T (p.Ile1043=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1602657	NM_014714.4(IFT140):c.3141+7C>T	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1570755	NM_014714.4(IFT140):c.3048C>T (p.Leu1016=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1566519	NM_014714.4(IFT140):c.3003G>A (p.Ala1001=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1566065	NM_014714.4(IFT140):c.3117C>T (p.Phe1039=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1551174	NM_014714.4(IFT140):c.2862T>C (p.Asp954=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1546940	NM_014714.4(IFT140):c.2820G>A (p.Glu940=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1488192	NM_014714.4(IFT140):c.2998-2del	LOC126862260, IFT140	Deletion (splice acceptor variant)	Saldino-Mainzer syndrome	GLikely pathogenic
Select item 1484388	NM_014714.4(IFT140):c.2812C>G (p.Leu938Val)	IFT140, LOC126862260 (L938V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1470145	NM_014714.4(IFT140):c.2864A>C (p.Lys955Thr)	IFT140, LOC126862260 (K955T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1469553	NM_014714.4(IFT140):c.3016G>A (p.Glu1006Lys)	IFT140, LOC126862260 (E1006K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1464073	NM_014714.4(IFT140):c.2951A>G (p.His984Arg)	IFT140, LOC126862260 (H984R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1434365	NM_014714.4(IFT140):c.2993A>G (p.Gln998Arg)	IFT140, LOC126862260 (Q998R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1433367	NM_014714.4(IFT140):c.3016G>C (p.Glu1006Gln)	LOC126862260, IFT140 (E1006Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1427142	NM_014714.4(IFT140):c.2818G>A (p.Glu940Lys)	IFT140, LOC126862260 (E940K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1422188	NM_014714.4(IFT140):c.2997+12G>A	IFT140, LOC126862260	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1407101	NM_014714.4(IFT140):c.2780C>T (p.Ser927Leu)	IFT140, LOC126862260 (S927L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1397647	NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del)	IFT140, LOC126862260	Deletion (inframe_deletion)	IFT140-related condition +2 more	GUncertain significance
Select item 1384766	NM_014714.4(IFT140):c.3109C>G (p.Gln1037Glu)	IFT140, LOC126862260 (Q1037E)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1384028	NM_014714.4(IFT140):c.2984G>T (p.Gly995Val)	IFT140, LOC126862260 (G995V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1383614	NM_014714.4(IFT140):c.2934C>A (p.Tyr978Ter)	IFT140, LOC126862260 (Y978*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome	GPathogenic
Select item 1378587	NM_014714.4(IFT140):c.2909A>T (p.Glu970Val)	IFT140, LOC126862260 (E970V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1369472	NM_014714.4(IFT140):c.2859G>T (p.Lys953Asn)	IFT140, LOC126862260 (K953N)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1368274	NM_014714.4(IFT140):c.3038C>T (p.Ser1013Phe)	IFT140, LOC126862260 (S1013F)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 1364498	NM_014714.4(IFT140):c.2816C>T (p.Ser939Leu)	IFT140, LOC126862260 (S939L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GLikely benign
Select item 1328235	NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter)	IFT140, LOC126862260 (Q1037*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome	GPathogenic
Select item 1293839	NM_014714.4(IFT140):c.2865-51G>A	IFT140, LOC126862260	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2