"GeneDx"[submitter] AND "IFT140"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 317981	NM_014714.4(IFT140):c.*59T>C	IFT140	Single nucleotide variant (3 prime UTR variant)	Saldino-Mainzer syndrome +2 more	GBenign
Select item 317985	NM_014714.4(IFT140):c.4380C>T (p.Asp1460=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GBenign
Select item 387707	NM_014714.4(IFT140):c.4264G>A (p.Ala1422Thr)	IFT140 (A1422T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1312108	NM_014714.4(IFT140):c.4234T>C (p.Ser1412Pro)	IFT140 (S1412P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499715	NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln)	IFT140 (R1403Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GConflicting classifications of pathogenicity
Select item 1289930	NM_014714.4(IFT140):c.4183-172C>T	IFT140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274110	NM_014714.4(IFT140):c.4183-188G>T	IFT140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 963729	NM_014714.4(IFT140):c.4159G>A (p.Val1387Met)	IFT140 (V1387M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1185534	NM_014714.4(IFT140):c.4041-44T>C	IFT140	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1250326	NM_014714.4(IFT140):c.4040+171C>T	IFT140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 317992	NM_014714.4(IFT140):c.3993G>C (p.Gln1331His)	IFT140 (Q1331H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 489108	NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter)	IFT140 (C1313*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1306767	NM_014714.4(IFT140):c.3850G>A (p.Gly1284Ser)	IFT140 (G1284S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364815	NM_014714.4(IFT140):c.3782A>T (p.Lys1261Met)	IFT140 (K1261M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1304866	NM_014714.4(IFT140):c.3712G>A (p.Ala1238Thr)	IFT140 (A1238T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 1014771	NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val)	IFT140 (A1224V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 862131	NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu)	IFT140 (S1187L)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 452480	NM_014714.4(IFT140):c.3532A>G (p.Lys1178Glu)	IFT140 (K1178E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1185535	NM_014714.4(IFT140):c.3454-48A>G	IFT140	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1231337	NM_014714.4(IFT140):c.3453+34C>T	IFT140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268419	NM_014714.4(IFT140):c.3271-53G>A	IFT140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 516182	NM_014714.4(IFT140):c.3270+19T>C	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +3 more	GBenign
Select item 372916	NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs)	IFT140 (V1085fs)	Duplication (frameshift variant)	Saldino-Mainzer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1304541	NM_014714.4(IFT140):c.3245A>T (p.Asp1082Val)	IFT140 (D1082V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 129261	NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val)	IFT140 (A1070V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1308724	NM_014714.4(IFT140):c.3176C>T (p.Ala1059Val)	IFT140 (A1059V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 1258750	NM_014714.4(IFT140):c.3142-73C>G	IFT140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3364394	NM_014714.4(IFT140):c.3096C>G (p.Phe1032Leu)	IFT140, LOC126862260 (F1032L)	Single nucleotide variant (missense variant)	not provided	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 1015766	NM_014714.4(IFT140):c.2987A>G (p.Asn996Ser)	IFT140, LOC126862260 (N996S)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 1055036	NM_014714.4(IFT140):c.2921C>T (p.Ala974Val)	IFT140, LOC126862260 (A974V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 962705	NM_014714.4(IFT140):c.2920G>A (p.Ala974Thr)	IFT140, LOC126862260 (A974T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129260	NM_014714.4(IFT140):c.2919C>T (p.Ala973=)	IFT140, LOC126862260	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 452479	NM_014714.4(IFT140):c.2914G>A (p.Asp972Asn)	IFT140, LOC126862260 (D972N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1293839	NM_014714.4(IFT140):c.2865-51G>A	IFT140, LOC126862260	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185536	NM_014714.4(IFT140):c.2768+184A>G	LOC126862260, IFT140	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 502471	NM_014714.4(IFT140):c.2756G>A (p.Arg919Gln)	IFT140 (R919Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1204584	NM_014714.4(IFT140):c.2683C>T (p.His895Tyr)	IFT140 (H895Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 620349	NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter)	IFT140 (Q886*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome +2 more	GPathogenic
Select item 987304	NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)	IFT140 (R871C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 620369	NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter)	IFT140 (Y866*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 80 +2 more	GLikely pathogenic
Select item 1239737	NM_014714.4(IFT140):c.2578-157G>A	IFT140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251773	NM_014714.4(IFT140):c.2577+193G>C	IFT140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229342	NM_014714.4(IFT140):c.2577+184C>T	IFT140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1723687	NM_014714.4(IFT140):c.2577+4_2577+5del	IFT140	Deletion (intron variant)	not provided	GLikely pathogenic
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 318056	NM_014714.4(IFT140):c.2454C>T (p.Asp818=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GBenign
Select item 707213	NM_014714.4(IFT140):c.2446C>T (p.Arg816Trp)	IFT140 (R816W)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 489091	NM_014714.4(IFT140):c.2400-2A>G	IFT140	Single nucleotide variant (splice acceptor variant)	Saldino-Mainzer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 31680	NM_014714.4(IFT140):c.2399+1G>T	IFT140	Single nucleotide variant (splice donor variant)	Autosomal dominant polycystic kidney disease +6 more	GPathogenic
Select item 129259	NM_014714.4(IFT140):c.2253T>C (p.Pro751=)	IFT140	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 80 +4 more	GBenign
Select item 1245629	NM_014714.4(IFT140):c.2200-42T>C	IFT140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 372905	NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala)	IFT140 (P726A)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3340349	NM_014714.4(IFT140):c.2086T>C (p.Ser696Pro)	IFT140 (S696P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1260315	NM_014714.4(IFT140):c.2068-39dup	IFT140	Duplication (intron variant)	not provided	GBenign
Select item 1265452	NM_014714.4(IFT140):c.2068-29del	IFT140	Deletion (intron variant)	not provided	GBenign
Select item 1222853	NM_014714.4(IFT140):c.2067+205T>G	IFT140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1034941	NM_014714.4(IFT140):c.2067+5G>A	IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 707392	NM_014714.4(IFT140):c.2057C>G (p.Ala686Gly)	IFT140 (A686G)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 318182	NM_014714.4(IFT140):c.2008C>T (p.Pro670Ser)	IFT140 (P670S)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GBenign
Select item 129258	NM_014714.4(IFT140):c.1968T>C (p.Ser656=)	IFT140	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 80 +4 more	GBenign
Select item 318183	NM_014714.4(IFT140):c.1918G>A (p.Asp640Asn)	IFT140 (D640N)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GBenign
Select item 1706756	NM_014714.4(IFT140):c.1902-77G>C	IFT140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 318185	NM_014714.4(IFT140):c.1862G>A (p.Arg621Gln)	IFT140 (R621Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GBenign
Select item 512925	NM_014714.4(IFT140):c.1771-5_1771-3del	IFT140	Deletion (intron variant)	Saldino-Mainzer syndrome +1 more	GLikely benign
Select item 1267307	NM_014714.4(IFT140):c.1771-236A>T	IFT140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707187	NM_014714.4(IFT140):c.1770+106T>G	IFT140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 318188	NM_014714.4(IFT140):c.1682G>A (p.Ser561Asn)	IFT140 (S561N)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GBenign
Select item 2634278	NM_014714.4(IFT140):c.1648C>T (p.Arg550Ter)	IFT140 (R550*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 766906	NM_014714.4(IFT140):c.1593G>T (p.Gly531=)	IFT140	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 766901	NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser)	IFT140 (C525S)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 97054	NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)	IFT140 (G522E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1281738	NM_014714.4(IFT140):c.1525-185C>T	IFT140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512128	NM_014714.4(IFT140):c.1524+3A>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GBenign/Likely benign
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 318192	NM_014714.4(IFT140):c.1352C>T (p.Ala451Val)	IFT140, LOC105371046 (A451V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GBenign
Select item 3342673	NM_014714.4(IFT140):c.1345G>A (p.Val449Met)	IFT140, LOC105371046 (V449M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314603	NM_014714.4(IFT140):c.1321C>T (p.Arg441Cys)	IFT140, LOC105371046 (R441C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866335	NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro)	IFT140, LOC105371046 (A418P)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 846506	NM_014714.4(IFT140):c.1220G>A (p.Arg407Gln)	IFT140, LOC105371046 (R407Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129257	NM_014714.4(IFT140):c.1192G>A (p.Val398Ile)	IFT140, LOC105371046 (V398I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1286278	NM_014714.4(IFT140):c.1156-183A>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285925	NM_014714.4(IFT140):c.1155+223C>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1016800	NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln)	IFT140, LOC105371046 (R347Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 280884	NM_014714.4(IFT140):c.1010-1G>A	IFT140, LOC105371046	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1294186	NM_014714.4(IFT140):c.1009+58G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 974394	NM_014714.4(IFT140):c.975G>T (p.Glu325Asp)	IFT140, LOC105371046 (E325D)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 865908	NM_014714.4(IFT140):c.920G>A (p.Arg307Gln)	IFT140, LOC105371046 (R307Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1314038	NM_014714.4(IFT140):c.910G>C (p.Asp304His)	IFT140, LOC105371046 (D304H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450986	NM_014714.4(IFT140):c.903-5T>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 968244	NM_014714.4(IFT140):c.883G>A (p.Val295Ile)	IFT140, LOC105371046 (V295I)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 318201	NM_014714.4(IFT140):c.839G>A (p.Arg280Gln)	IFT140, LOC105371046 (R280Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GBenign
Select item 318202	NM_014714.4(IFT140):c.838C>T (p.Arg280Trp)	IFT140, LOC105371046 (R280W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 129262	NM_014714.4(IFT140):c.836G>C (p.Arg279Pro)	IFT140, LOC105371046 (R279P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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