"Ambry Genetics"[submitter] AND "IFT140"[gene] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 317984	NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)	IFT140 (D1461N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GConflicting classifications of pathogenicity
Select item 2493500	NM_014714.4(IFT140):c.4375G>T (p.Asp1459Tyr)	IFT140 (D1459Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 465320	NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys)	IFT140 (R1440C)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +3 more	GUncertain significance
Select item 856505	NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys)	IFT140 (E1437K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 855250	NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile)	IFT140 (V1435I)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 934789	NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp)	IFT140 (R1425W)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 856649	NM_014714.4(IFT140):c.4250C>T (p.Pro1417Leu)	IFT140 (P1417L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2249176	NM_014714.4(IFT140):c.4243G>A (p.Val1415Met)	IFT140 (V1415M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 859231	NM_014714.4(IFT140):c.4214G>A (p.Arg1405Gln)	IFT140 (R1405Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1440471	NM_014714.4(IFT140):c.4210C>T (p.Arg1404Trp)	IFT140 (R1404W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 835647	NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr)	IFT140 (M1402T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1398154	NM_014714.4(IFT140):c.4172A>G (p.Glu1391Gly)	IFT140 (E1391G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 858488	NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu)	IFT140 (V1387L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2476418	NM_014714.4(IFT140):c.4139G>T (p.Gly1380Val)	IFT140 (G1380V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475189	NM_014714.4(IFT140):c.4120C>T (p.Arg1374Cys)	IFT140 (R1374C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 964290	NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val)	IFT140 (A1330V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 317997	NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln)	IFT140 (R1260Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2464853	NM_014714.4(IFT140):c.3708C>A (p.Phe1236Leu)	IFT140 (F1236L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 843963	NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr)	IFT140 (R1223T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 2547182	NM_014714.4(IFT140):c.3646G>A (p.Gly1216Ser)	IFT140 (G1216S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 942492	NM_014714.4(IFT140):c.3602G>T (p.Arg1201Leu)	IFT140 (R1201L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 886469	NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu)	IFT140 (S1181L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1469331	NM_014714.4(IFT140):c.3507G>C (p.Glu1169Asp)	IFT140 (E1169D)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 2330689	NM_014714.4(IFT140):c.3379G>A (p.Ala1127Thr)	IFT140 (A1127T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1025061	NM_014714.4(IFT140):c.3322G>A (p.Val1108Met)	IFT140 (V1108M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 886534	NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)	IFT140 (R1072Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 849217	NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser)	IFT140 (L1058S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GConflicting classifications of pathogenicity
Select item 955432	NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp)	IFT140, LOC126862260 (R1035W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	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 1060391	NM_014714.4(IFT140):c.2944C>T (p.Arg982Trp)	IFT140, LOC126862260 (R982W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1004717	NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln)	IFT140, LOC126862260 (R959Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 597113	NM_014714.4(IFT140):c.2773G>A (p.Glu925Lys)	LOC126862260, IFT140 (E925K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 858444	NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn)	IFT140 (D916N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2536425	NM_014714.4(IFT140):c.2728C>T (p.His910Tyr)	IFT140 (H910Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1385216	NM_014714.4(IFT140):c.2717G>A (p.Arg906His)	IFT140 (R906H)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2270576	NM_014714.4(IFT140):c.2692G>T (p.Val898Leu)	IFT140 (V898L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 854220	NM_014714.4(IFT140):c.2690G>A (p.Arg897His)	IFT140 (R897H)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 1204584	NM_014714.4(IFT140):c.2683C>T (p.His895Tyr)	IFT140 (H895Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 849789	NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln)	IFT140 (R884Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1002418	NM_014714.4(IFT140):c.2530G>C (p.Glu844Gln)	IFT140 (E844Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1696319	NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr)	IFT140 (A820T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +3 more	GUncertain significance
Select item 1027168	NM_014714.4(IFT140):c.2407G>A (p.Val803Ile)	IFT140 (V803I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2234518	NM_024600.6(TMEM204):c.166C>T (p.Arg56Trp)	TMEM204, IFT140 (R56W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477877	NM_024600.6(TMEM204):c.208G>A (p.Ala70Thr)	IFT140, TMEM204 (A70T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2247867	NM_024600.6(TMEM204):c.224C>T (p.Ala75Val)	IFT140, TMEM204 (A75V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494222	NM_024600.6(TMEM204):c.239C>G (p.Ser80Cys)	IFT140, TMEM204 (S80C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210983	NM_024600.6(TMEM204):c.241G>A (p.Glu81Lys)	TMEM204, IFT140 (E81K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512652	NM_024600.6(TMEM204):c.325G>A (p.Ala109Thr)	IFT140, TMEM204 (A109T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237465	NM_024600.6(TMEM204):c.391G>A (p.Ala131Thr)	TMEM204, IFT140 (A131T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327993	NM_024600.6(TMEM204):c.473G>A (p.Arg158Lys)	IFT140, TMEM204 (R158K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480037	NM_024600.6(TMEM204):c.499T>C (p.Trp167Arg)	IFT140, TMEM204 (W167R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233144	NM_024600.6(TMEM204):c.620G>A (p.Arg207His)	IFT140, TMEM204 (R207H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258422	NM_024600.6(TMEM204):c.647G>A (p.Gly216Glu)	IFT140, TMEM204 (G216E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597274	NM_014714.4(IFT140):c.2396A>G (p.Lys799Arg)	IFT140 (K799R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477866	NM_014714.4(IFT140):c.2392A>C (p.Ile798Leu)	IFT140 (I798L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1478864	NM_014714.4(IFT140):c.2242C>T (p.His748Tyr)	IFT140 (H748Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2541204	NM_014714.4(IFT140):c.2020C>G (p.Pro674Ala)	IFT140 (P674A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2166719	NM_014714.4(IFT140):c.1996G>A (p.Val666Met)	IFT140 (V666M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 887235	NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp)	IFT140 (R659W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2172140	NM_014714.4(IFT140):c.1867G>C (p.Glu623Gln)	IFT140 (E623Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 852527	NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp)	IFT140 (R621W)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2304024	NM_014714.4(IFT140):c.1840T>C (p.Phe614Leu)	IFT140 (F614L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 851373	NM_014714.4(IFT140):c.1789T>G (p.Ser597Ala)	IFT140 (S597A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 943077	NM_014714.4(IFT140):c.1739G>A (p.Ser580Asn)	IFT140 (S580N)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 967795	NM_014714.4(IFT140):c.1428T>A (p.Ser476Arg)	IFT140, LOC105371046 (S476R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 573668	NM_014714.4(IFT140):c.1424G>A (p.Arg475Gln)	IFT140, LOC105371046 (R475Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 846110	NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr)	IFT140, LOC105371046 (A473T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2049620	NM_014714.4(IFT140):c.1394C>T (p.Ala465Val)	LOC105371046, IFT140 (A465V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1349795	NM_014714.4(IFT140):c.1381G>A (p.Gly461Arg)	IFT140, LOC105371046 (G461R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1060605	NM_014714.4(IFT140):c.1364C>T (p.Ala455Val)	IFT140, LOC105371046 (A455V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2331016	NM_014714.4(IFT140):c.1245G>T (p.Gln415His)	IFT140, LOC105371046 (Q415H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317600	NM_014714.4(IFT140):c.1201G>A (p.Val401Met)	IFT140, LOC105371046 (V401M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 939525	NM_014714.4(IFT140):c.1126G>A (p.Glu376Lys)	IFT140, LOC105371046 (E376K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2213122	NM_014714.4(IFT140):c.941G>A (p.Ser314Asn)	IFT140, LOC105371046 (S314N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 318198	NM_014714.4(IFT140):c.925G>A (p.Glu309Lys)	IFT140, LOC105371046 (E309K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2543582	NM_014714.4(IFT140):c.901A>G (p.Arg301Gly)	IFT140, LOC105371046 (R301G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 318200	NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)	IFT140, LOC105371046 (S289R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GConflicting classifications of pathogenicity
Select item 954648	NM_014714.4(IFT140):c.849C>G (p.Ile283Met)	IFT140, LOC105371046 (I283M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 318204	NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)	IFT140, LOC105371046 (P260S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 318205	NM_014714.4(IFT140):c.772A>T (p.Thr258Ser)	IFT140, LOC105371046 (T258S)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2339347	NM_014714.4(IFT140):c.710T>A (p.Phe237Tyr)	LOC105371046, IFT140 (F237Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 318207	NM_014714.4(IFT140):c.685G>A (p.Ala229Thr)	LOC105371046, IFT140 (A229T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2520701	NM_014714.4(IFT140):c.629T>C (p.Met210Thr)	IFT140, LOC105371046 (M210T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556611	NM_014714.4(IFT140):c.625C>G (p.Leu209Val)	IFT140, LOC105371046 (L209V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541352	NM_014714.4(IFT140):c.625C>A (p.Leu209Met)	IFT140, LOC105371046 (L209M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1010784	NM_014714.4(IFT140):c.337C>T (p.Pro113Ser)	IFT140, LOC105371046 (P113S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1377256	NM_014714.4(IFT140):c.328C>A (p.Arg110Ser)	IFT140, LOC105371046 (R110S)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2618202	NM_014714.4(IFT140):c.245C>A (p.Thr82Asn)	IFT140, LOC105371046 (T82N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545261	NM_014714.4(IFT140):c.187C>T (p.Arg63Trp)	IFT140, LOC105371046 (R63W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1479611	NM_014714.4(IFT140):c.160C>T (p.Pro54Ser)	IFT140, LOC105371046 (P54S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1505129	NM_014714.4(IFT140):c.155G>A (p.Cys52Tyr)	IFT140, LOC105371046 (C52Y)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 2236488	NM_014714.4(IFT140):c.44C>G (p.Ala15Gly)	LOC105371046, IFT140 (A15G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 92