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

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2336920	NM_020315.5(PDXP):c.18G>C (p.Arg6Ser)	PDXP (R6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301698	NM_020315.5(PDXP):c.46C>G (p.Leu16Val)	PDXP (L16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360352	NM_020315.5(PDXP):c.64G>A (p.Val22Ile)	PDXP (V22I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211054	NM_020315.5(PDXP):c.94A>G (p.Asn32Asp)	PDXP (N32D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472300	NM_020315.5(PDXP):c.100G>C (p.Glu34Gln)	PDXP (E34Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333118	NM_020315.5(PDXP):c.104G>A (p.Arg35His)	PDXP (R35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271707	NM_020315.5(PDXP):c.136C>T (p.Arg46Trp)	PDXP (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612124	NM_020315.5(PDXP):c.248A>C (p.Glu83Ala)	PDXP (E83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611888	NM_020315.5(PDXP):c.289C>T (p.Arg97Cys)	PDXP (R97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495603	NM_020315.5(PDXP):c.298C>G (p.Leu100Val)	PDXP (L100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361525	NM_020315.5(PDXP):c.343G>A (p.Gly115Ser)	LOC130067386, PDXP (G115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305621	NM_020315.5(PDXP):c.565C>G (p.Arg189Gly)	PDXP (R189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305622	NM_020315.5(PDXP):c.566G>T (p.Arg189Leu)	PDXP (R189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249629	NM_020315.5(PDXP):c.611C>T (p.Ser204Leu)	PDXP (S204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622270	NM_020315.5(PDXP):c.668C>T (p.Thr223Met)	PDXP (T223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211113	NM_020315.5(PDXP):c.695G>A (p.Arg232His)	PDXP (R232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359942	NM_020315.5(PDXP):c.695G>T (p.Arg232Leu)	PDXP (R232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208671	NM_020315.5(PDXP):c.703A>T (p.Met235Leu)	PDXP (M235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337211	NM_020315.5(PDXP):c.733C>T (p.Leu245Phe)	PDXP (L245F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454739	NM_020315.5(PDXP):c.787C>T (p.Arg263Cys)	PDXP (R263C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265271	NM_020315.5(PDXP):c.815C>T (p.Ala272Val)	PDXP (A272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461573	NM_020315.5(PDXP):c.835G>A (p.Val279Met)	PDXP (V279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226251	NM_020315.5(PDXP):c.862G>A (p.Ala288Thr)	PDXP (A288T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23