"Ambry Genetics"[submitter] AND "IFT88"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2522041	NM_006531.5(IFT88):c.25C>T (p.Pro9Ser)	IFT88 (P9S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2902025	NM_006531.5(IFT88):c.71A>G (p.Asn24Ser)	IFT88 (N24S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2520494	NM_006531.5(IFT88):c.74C>T (p.Pro25Leu)	IFT88 (P25L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2190455	NM_006531.5(IFT88):c.92A>T (p.Glu31Val)	IFT88 (E31V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1967664	NM_006531.5(IFT88):c.110C>G (p.Ala37Gly)	IFT88 (A37G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2557256	NM_006531.5(IFT88):c.134G>T (p.Ser45Ile)	IFT88 (S45I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311156	NM_006531.5(IFT88):c.227C>T (p.Ala76Val)	IFT88 (A76V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2215358	NM_006531.5(IFT88):c.235A>G (p.Ile79Val)	IFT88 (I79V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3108474	NM_006531.5(IFT88):c.551A>G (p.Gln184Arg)	IFT88 (Q184R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537727	NM_006531.5(IFT88):c.638A>T (p.Tyr213Phe)	IFT88 (Y222F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611142	NM_006531.5(IFT88):c.641C>T (p.Ala214Val)	IFT88 (A214V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2186051	NM_006531.5(IFT88):c.878A>G (p.Asn293Ser)	IFT88 (N274S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2071854	NM_006531.5(IFT88):c.937A>G (p.Ile313Val)	IFT88 (I322V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2218200	NM_006531.5(IFT88):c.979G>A (p.Ala327Thr)	IFT88 (A116T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1423043	NM_006531.5(IFT88):c.1106G>A (p.Arg369His)	IFT88 (R335H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2357793	NM_006531.5(IFT88):c.1204G>A (p.Val402Met)	IFT88 (V191M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399914	NM_006531.5(IFT88):c.1267G>A (p.Val423Ile)	IFT88 (V212I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2083260	NM_006531.5(IFT88):c.1309A>C (p.Ile437Leu)	IFT88 (I384L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2335199	NM_006531.5(IFT88):c.1379A>G (p.Tyr460Cys)	IFT88 (Y249C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1957641	NM_006531.5(IFT88):c.1382A>G (p.Tyr461Cys)	IFT88 (Y408C +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1925194	NM_006531.5(IFT88):c.1384A>G (p.Met462Val)	IFT88 (M437V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1469072	NM_006531.5(IFT88):c.1424T>C (p.Ile475Thr)	IFT88 (I264T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2313974	NM_006531.5(IFT88):c.1498T>C (p.Tyr500His)	IFT88 (Y289H +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1432327	NM_006531.5(IFT88):c.1522A>G (p.Lys508Glu)	IFT88 (K297E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2101800	NM_006531.5(IFT88):c.1531C>G (p.Leu511Val)	IFT88 (L463V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2467444	NM_006531.5(IFT88):c.1657G>C (p.Glu553Gln)	IFT88 (E342Q +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1511399	NM_006531.5(IFT88):c.1658A>C (p.Glu553Ala)	IFT88 (E500A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1410316	NM_006531.5(IFT88):c.1882G>T (p.Ala628Ser)	IFT88 (A575S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2253224	NM_006531.5(IFT88):c.1952C>T (p.Pro651Leu)	IFT88 (P660L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2394761	NM_006531.5(IFT88):c.2240G>A (p.Gly747Asp)	IFT88 (G536D +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483299	NM_006531.5(IFT88):c.2395C>T (p.Pro799Ser)	IFT88 (P765S +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1367023	NM_006531.5(IFT88):c.2422G>A (p.Asp808Asn)	IFT88 (D737N +10 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance

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Items: 32