"Ambry Genetics"[submitter] AND "CFAP36"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2613898	NM_080667.7(CFAP36):c.87C>G (p.Ile29Met)	CFAP36 (I29M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265172	NM_080667.7(CFAP36):c.298G>T (p.Val100Leu)	CFAP36 (V100L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459739	NM_080667.7(CFAP36):c.311A>C (p.Glu104Ala)	CFAP36 (E129A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229978	NM_080667.7(CFAP36):c.353T>C (p.Ile118Thr)	CFAP36 (I118T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461213	NM_080667.7(CFAP36):c.395A>G (p.Asn132Ser)	CFAP36 (N132S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316619	NM_080667.7(CFAP36):c.419C>T (p.Thr140Ile)	CFAP36 (T140I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605366	NM_080667.7(CFAP36):c.451C>T (p.His151Tyr)	CFAP36 (H151Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291672	NM_080667.7(CFAP36):c.527G>C (p.Arg176Thr)	CFAP36 (R176T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275120	NM_080667.7(CFAP36):c.761T>C (p.Ile254Thr)	CFAP36 (I254T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214362	NM_080667.7(CFAP36):c.857T>A (p.Met286Lys)	CFAP36 (M311K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245196	NM_080667.7(CFAP36):c.886C>G (p.Gln296Glu)	CFAP36 (Q296E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529377	NM_080667.7(CFAP36):c.935C>T (p.Thr312Ile)	CFAP36 (T337I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410366	NM_080667.7(CFAP36):c.971C>T (p.Thr324Ile)	CFAP36 (T324I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance