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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2356675	NM_006474.5(PDPN):c.-161C>G	PDPN (A23G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3211050	NM_006474.5(PDPN):c.-159C>T	PDPN (R24W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2215894	NM_006474.5(PDPN):c.119G>C (p.Gly40Ala)	PDPN (G116A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3211047	NM_006474.5(PDPN):c.139G>A (p.Glu47Lys)	PDPN (E123K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568519	NM_006474.5(PDPN):c.175C>A (p.Arg59Ser)	PDPN (R59S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403146	NM_006474.5(PDPN):c.218A>G (p.Asn73Ser)	PDPN (N31S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391771	NM_006474.5(PDPN):c.274G>A (p.Ala92Thr)	PDPN (A168T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211048	NM_006474.5(PDPN):c.317C>G (p.Thr106Ser)	PDPN (T182S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211049	NM_006474.5(PDPN):c.353A>G (p.Gln118Arg)	PDPN (Q76R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305596	NM_006474.5(PDPN):c.404T>C (p.Ile135Thr)	PDPN (I93T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248174	NM_006474.5(PDPN):c.416T>C (p.Leu139Ser)	PDPN (L97S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance