ClinVar for Gene (Select 5360) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	ACOT8, ADA +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3248233	NC_000020.10:g.(?_44519965)_(44751017_?)del	CD40, CTSA +6 more	Deletion	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
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 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 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 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
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 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 3049751	NM_006227.4(PLTP):c.225G>A (p.Leu75=)	PLTP	Single nucleotide variant (5 prime UTR variant +2 more)	PLTP-related disorder	GLikely benign
Select item 3048679	NM_006227.4(PLTP):c.849G>A (p.Ala283=)	PLTP	Single nucleotide variant (synonymous variant)	PLTP-related disorder	GLikely benign
Select item 3048370	NM_006227.4(PLTP):c.132A>G (p.Gln44=)	PLTP	Single nucleotide variant (synonymous variant)	PLTP-related disorder	GLikely benign
Select item 3045982	NM_006227.4(PLTP):c.987C>T (p.Val329=)	PLTP	Single nucleotide variant (synonymous variant)	PLTP-related disorder	GLikely benign
Select item 3022963	NM_006227.4(PLTP):c.1219-18C>T	PLTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021604	NM_006227.4(PLTP):c.53A>T (p.Glu18Val)	PLTP (E18V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021340	NM_006227.4(PLTP):c.330-20A>C	PLTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020935	NM_006227.4(PLTP):c.848C>T (p.Ala283Val)	PLTP (A188V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019810	NM_006227.4(PLTP):c.725C>A (p.Thr242Asn)	PLTP (T147N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017192	NM_006227.4(PLTP):c.1107+5G>A	PLTP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3011376	NM_006227.4(PLTP):c.1031T>G (p.Ile344Ser)	PLTP (I249S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996548	NM_006227.4(PLTP):c.1360-18C>G	PLTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990382	NM_006227.4(PLTP):c.462C>T (p.His154=)	PLTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988778	NM_006227.4(PLTP):c.579G>A (p.Thr193=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988371	NM_006227.4(PLTP):c.1016C>T (p.Pro339Leu)	PLTP (P339L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972044	NM_006227.4(PLTP):c.1244A>T (p.Lys415Met)	PLTP (K327M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970287	NM_006227.4(PLTP):c.176G>A (p.Gly59Asp)	PLTP (G59D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964518	NM_006227.4(PLTP):c.613+14G>A	PLTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964069	NM_006227.4(PLTP):c.1107+16T>G	PLTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908972	NM_006227.4(PLTP):c.1295G>A (p.Arg432His)	PLTP (R344H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904430	NM_006227.4(PLTP):c.390G>A (p.Glu130=)	PLTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896899	NM_006227.4(PLTP):c.1176-4G>A	PLTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895763	NM_006227.4(PLTP):c.907C>T (p.Leu303=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2886210	NM_006227.4(PLTP):c.879C>T (p.Asp293=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861459	NM_006227.4(PLTP):c.891C>T (p.His297=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2859358	NM_006227.4(PLTP):c.550-17del	PLTP	Deletion (intron variant)	not provided	GLikely benign
Select item 2836063	NM_006227.4(PLTP):c.1214T>A (p.Leu405Gln)	PLTP (L310Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763025	NM_006227.4(PLTP):c.405C>T (p.Pro135=)	PLTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2757643	NM_006227.4(PLTP):c.288C>T (p.Ser96=)	PLTP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2747807	NM_006227.4(PLTP):c.1218+5G>T	PLTP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2742132	NM_006227.4(PLTP):c.465G>A (p.Ala155=)	PLTP	Single nucleotide variant (synonymous variant +1 more)	PLTP-related disorder +1 more	GLikely benign
Select item 2730808	NM_006227.4(PLTP):c.535C>T (p.Leu179Phe)	PLTP (L127F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724219	NM_006227.4(PLTP):c.200+3A>C	PLTP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2722822	NM_006227.4(PLTP):c.1219-4C>G	PLTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716331	NM_006227.4(PLTP):c.911G>A (p.Arg304Lys)	PLTP (R209K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705379	NM_006227.4(PLTP):c.195C>A (p.Ile65=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
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 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 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 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 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 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 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 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 2302090	NM_006227.4(PLTP):c.145A>G (p.Ile49Val)	PLTP (I49V)	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 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 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 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 2199749	NM_006227.4(PLTP):c.1114C>T (p.Arg372Cys)	PLTP (R372C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192348	NM_006227.4(PLTP):c.76G>C (p.Val26Leu)	PLTP (V26L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188904	NM_006227.4(PLTP):c.1173C>T (p.Arg391=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2182900	NM_006227.4(PLTP):c.630C>T (p.Asp210=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181717	NM_006227.4(PLTP):c.1343T>C (p.Val448Ala)	PLTP (V353A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175201	NM_006227.4(PLTP):c.1139G>A (p.Arg380Gln)	PLTP (R292Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172179	NM_006227.4(PLTP):c.1175+10C>T	PLTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2131050	NM_006227.4(PLTP):c.1259T>C (p.Ile420Thr)	PLTP (I325T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090699	NM_006227.4(PLTP):c.1458C>T (p.Pro486=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075307	NM_006227.4(PLTP):c.1354C>T (p.His452Tyr)	PLTP (H400Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073187	NM_006227.4(PLTP):c.832G>C (p.Glu278Gln)	PLTP (E190Q +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2068206	NM_006227.4(PLTP):c.1158G>A (p.Thr386=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068140	NM_006227.4(PLTP):c.968T>C (p.Leu323Ser)	PLTP (L228S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068139	NM_006227.4(PLTP):c.983G>A (p.Arg328Gln)	PLTP (R233Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054289	NM_006227.4(PLTP):c.732G>A (p.Arg244=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987625	NM_006227.4(PLTP):c.549+20G>A	PLTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1981886	NM_006227.4(PLTP):c.355T>G (p.Ser119Ala)	PLTP (S119A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1979566	NM_006227.4(PLTP):c.529C>T (p.Arg177Cys)	PLTP (R177C +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1946936	NM_006227.4(PLTP):c.1059C>T (p.Ala353=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942444	NM_006227.4(PLTP):c.1350G>A (p.Thr450=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940090	NM_006227.4(PLTP):c.611C>G (p.Pro204Arg)	PLTP (P109R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937488	NM_006227.4(PLTP):c.1176G>C (p.Arg392Ser)	PLTP (R304S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930299	NM_006227.4(PLTP):c.1419GAA[1] (p.Lys474del)	PLTP (K474del +3 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1920721	NM_006227.4(PLTP):c.329+20A>C	PLTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920720	NM_006227.4(PLTP):c.1107+16T>A	PLTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900195	NM_006227.4(PLTP):c.329+1G>T	PLTP	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 1670115	NM_006227.4(PLTP):c.613+17T>C	PLTP	Single nucleotide variant (intron variant)	not provided	GBenign

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