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

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215482	NM_006227.4(PLTP):c.1415T>C (p.Ile472Thr)	PLTP (I420T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403651	NM_006227.4(PLTP):c.1334T>G (p.Val445Gly)	PLTP (V393G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397009	NM_006227.4(PLTP):c.1307T>A (p.Ile436Asn)	PLTP (I384N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314068	NM_006227.4(PLTP):c.1283A>C (p.Glu428Ala)	PLTP (E333A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278943	NM_006227.4(PLTP):c.1264G>A (p.Val422Met)	PLTP (V334M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531913	NM_006227.4(PLTP):c.1225C>A (p.Pro409Thr)	PLTP (P357T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307872	NM_006227.4(PLTP):c.1181G>C (p.Arg394Pro)	PLTP (R394P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542546	NM_006227.4(PLTP):c.1171C>T (p.Arg391Cys)	PLTP (R296C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316200	NM_006227.4(PLTP):c.1144A>G (p.Lys382Glu)	PLTP (K330E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1428342	NM_006227.4(PLTP):c.1115G>A (p.Arg372His)	PLTP (R277H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3215481	NM_006227.4(PLTP):c.1111G>A (p.Ala371Thr)	PLTP (A283T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215480	NM_006227.4(PLTP):c.1051A>T (p.Thr351Ser)	PLTP (T299S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470439	NM_006227.4(PLTP):c.1034C>T (p.Ser345Phe)	PLTP (S250F +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3307870	NM_006227.4(PLTP):c.1000C>T (p.Arg334Cys)	PLTP (R239C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334493	NM_006227.4(PLTP):c.941T>C (p.Leu314Pro)	PLTP (L219P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549171	NM_006227.4(PLTP):c.879C>G (p.Asp293Glu)	PLTP (D198E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215488	NM_006227.4(PLTP):c.871G>A (p.Val291Met)	PLTP (V203M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262451	NM_006227.4(PLTP):c.850G>A (p.Gly284Arg)	PLTP (G232R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2073187	NM_006227.4(PLTP):c.832G>C (p.Glu278Gln)	PLTP (E190Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2321703	NM_006227.4(PLTP):c.764C>T (p.Pro255Leu)	PLTP (P160L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277855	NM_006227.4(PLTP):c.752G>A (p.Arg251Gln)	PLTP (R163Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491343	NM_006227.4(PLTP):c.750C>G (p.Asn250Lys)	PLTP (N155K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215487	NM_006227.4(PLTP):c.745C>T (p.Pro249Ser)	PLTP (P197S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513809	NM_006227.4(PLTP):c.631G>C (p.Glu211Gln)	PLTP (E123Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215486	NM_006227.4(PLTP):c.603C>G (p.Asp201Glu)	PLTP (D201E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535291	NM_006227.4(PLTP):c.557C>G (p.Pro186Arg)	PLTP (P134R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1979566	NM_006227.4(PLTP):c.529C>T (p.Arg177Cys)	PLTP (R177C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2405975	NM_006227.4(PLTP):c.464C>T (p.Ala155Val)	PLTP (A155V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1432062	NM_006227.4(PLTP):c.463G>A (p.Ala155Thr)	PLTP (A67T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2318436	NM_006227.4(PLTP):c.439C>G (p.Gln147Glu)	PLTP (Q147E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244303	NM_006227.4(PLTP):c.395C>T (p.Ser132Phe)	PLTP (S132F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307871	NM_006227.4(PLTP):c.365G>T (p.Gly122Val)	PLTP (G122V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307869	NM_006227.4(PLTP):c.323G>C (p.Trp108Ser)	PLTP (W108S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384940	NM_006227.4(PLTP):c.305G>A (p.Arg102Gln)	PLTP (R14Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480595	NM_006227.4(PLTP):c.299G>A (p.Arg100His)	PLTP (R100H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1399822	NM_006227.4(PLTP):c.175G>A (p.Gly59Ser)	PLTP (G59S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2302090	NM_006227.4(PLTP):c.145A>G (p.Ile49Val)	PLTP (I49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215484	NM_006227.4(PLTP):c.40G>T (p.Gly14Cys)	PLTP (G14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215483	NM_006227.4(PLTP):c.38C>T (p.Ala13Val)	PLTP (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 39