"Ambry Genetics"[submitter] AND "IFT56"[gene] - ClinVar - NCBI

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2322111	NM_024926.4(IFT56):c.37G>A (p.Gly13Ser)	IFT56 (G13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264698	NM_024926.4(IFT56):c.235G>A (p.Glu79Lys)	IFT56 (E48K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108417	NM_024926.4(IFT56):c.310C>T (p.Leu104Phe)	IFT56 (L104F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604700	NM_024926.4(IFT56):c.519A>G (p.Ile173Met)	IFT56 (I68M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288469	NM_024926.4(IFT56):c.710C>T (p.Ala237Val)	IFT56 (A206V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108418	NM_024926.4(IFT56):c.728A>G (p.Lys243Arg)	IFT56 (K138R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345694	NM_024926.4(IFT56):c.935A>T (p.Glu312Val)	IFT56 (E206V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108413	NM_024926.4(IFT56):c.1088A>C (p.Gln363Pro)	IFT56 (Q257P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623004	NM_024926.4(IFT56):c.1303G>C (p.Ala435Pro)	IFT56 (A295P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291547	NM_024926.4(IFT56):c.1349T>G (p.Leu450Arg)	IFT56 (L310R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108414	NM_024926.4(IFT56):c.1396C>A (p.Leu466Ile)	IFT56 (L326I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108415	NM_024926.4(IFT56):c.1502G>A (p.Arg501Gln)	IFT56 (R395Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510653	NM_024926.4(IFT56):c.1599C>A (p.Asn533Lys)	IFT56 (N402K +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3108416	NM_024926.4(IFT56):c.1661T>C (p.Ile554Thr)	IFT56 (I449T +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance