"Ambry Genetics"[submitter] AND "IFT20"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2561188	NM_001267776.2(IFT20):c.277C>A (p.Leu93Ile)	IFT20 (L93I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471646	NM_001267776.2(IFT20):c.260A>C (p.Glu87Ala)	IFT20 (R126S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394433	NM_001267776.2(IFT20):c.244A>G (p.Ile82Val)	IFT20 (Y121C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309968	NM_001267776.2(IFT20):c.226C>T (p.Arg76Trp)	IFT20 (S115L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108392	NM_001267776.2(IFT20):c.196G>C (p.Glu66Gln)	IFT20 (E66Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313115	NM_001267776.2(IFT20):c.181C>T (p.Leu61Phe)	IFT20 (L87F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466903	NM_001267776.2(IFT20):c.152T>C (p.Val51Ala)	IFT20 (V51A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108391	NM_001267776.2(IFT20):c.148A>G (p.Ile50Val)	IFT20 (I50V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108390	NM_001267776.2(IFT20):c.116A>G (p.Asp39Gly)	IFT20 (D39G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285424	NM_001267776.2(IFT20):c.115G>T (p.Asp39Tyr)	IFT20 (D39Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276090	NM_001267776.2(IFT20):c.112A>G (p.Lys38Glu)	IFT20 (K38E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370563	NM_001267776.2(IFT20):c.25G>A (p.Ala9Thr)	IFT20 (A35T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance