PLTP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 338542	NM_000308.4(CTSA):c.*266T>A	CTSA, PLTP	Single nucleotide variant (3 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	GUncertain significance
Select item 338543	NM_000308.4(CTSA):c.*320G>A	CTSA, PLTP	Single nucleotide variant (3 prime UTR variant +1 more)	Combined deficiency of sialidase AND beta galactosidase	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 1569863	NM_006227.4(PLTP):c.1446G>A (p.Ala482=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469684	NM_006227.4(PLTP):c.1433C>G (p.Ala478Gly)	PLTP (A383G +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 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 2996548	NM_006227.4(PLTP):c.1360-18C>G	PLTP	Single nucleotide variant (intron 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 1942444	NM_006227.4(PLTP):c.1350G>A (p.Thr450=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1636906	NM_006227.4(PLTP):c.1344G>C (p.Val448=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 1355576	NM_006227.4(PLTP):c.1283-7C>A	PLTP	Single nucleotide variant (intron variant)	PLTP-related condition +1 more	GLikely benign
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 1445681	NM_006227.4(PLTP):c.1263_1264delinsCA (p.Val422Met)	PLTP (V334M +3 more)	Indel (missense variant)	not provided	GUncertain significance
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 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 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 2722822	NM_006227.4(PLTP):c.1219-4C>G	PLTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634563	NM_006227.4(PLTP):c.1219-8C>T	PLTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022963	NM_006227.4(PLTP):c.1219-18C>T	PLTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1554810	NM_006227.4(PLTP):c.1218+20T>G	PLTP	Single nucleotide variant (intron variant)	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 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 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 2896899	NM_006227.4(PLTP):c.1176-4G>A	PLTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2172179	NM_006227.4(PLTP):c.1175+10C>T	PLTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 789856	NM_006227.4(PLTP):c.1175+6C>G	PLTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2188904	NM_006227.4(PLTP):c.1173C>T (p.Arg391=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	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 2068206	NM_006227.4(PLTP):c.1158G>A (p.Thr386=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1538460	NM_006227.4(PLTP):c.1138C>T (p.Arg380Trp)	PLTP (R285W +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1637057	NM_006227.4(PLTP):c.1137C>T (p.Leu379=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1428342	NM_006227.4(PLTP):c.1115G>A (p.Arg372His)	PLTP (R277H +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 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 2964069	NM_006227.4(PLTP):c.1107+16T>G	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 3017192	NM_006227.4(PLTP):c.1107+5G>A	PLTP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1461374	NM_006227.4(PLTP):c.1077del (p.Gln359fs)	PLTP (Q264fs +3 more)	Deletion (frameshift variant)	not provided	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 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 789857	NM_006227.4(PLTP):c.1047C>T (p.Ser349=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 3045982	NM_006227.4(PLTP):c.987C>T (p.Val329=)	PLTP	Single nucleotide variant (synonymous variant)	PLTP-related condition	GLikely benign
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 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 1497923	NM_006227.4(PLTP):c.942+12C>T	PLTP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2895763	NM_006227.4(PLTP):c.907C>T (p.Leu303=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2861459	NM_006227.4(PLTP):c.891C>T (p.His297=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1640314	NM_006227.4(PLTP):c.881A>G (p.Lys294Arg)	PLTP (K199R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2886210	NM_006227.4(PLTP):c.879C>T (p.Asp293=)	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 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 3048679	NM_006227.4(PLTP):c.849G>A (p.Ala283=)	PLTP	Single nucleotide variant (synonymous variant)	PLTP-related condition	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 1568085	NM_006227.4(PLTP):c.845G>A (p.Arg282Gln)	PLTP (R187Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1523101	NM_006227.4(PLTP):c.797T>A (p.Val266Glu)	PLTP (V171E +3 more)	Single nucleotide variant (missense variant)	not provided	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 2054289	NM_006227.4(PLTP):c.732G>A (p.Arg244=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1469132	NM_006227.4(PLTP):c.680C>G (p.Thr227Ser)	PLTP (T132S +3 more)	Single nucleotide variant (missense variant)	not provided	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 2182900	NM_006227.4(PLTP):c.630C>T (p.Asp210=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1479052	NM_006227.4(PLTP):c.616C>T (p.Arg206Cys)	PLTP (R118C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670115	NM_006227.4(PLTP):c.613+17T>C	PLTP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2964518	NM_006227.4(PLTP):c.613+14G>A	PLTP	Single nucleotide variant (intron 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 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 2988778	NM_006227.4(PLTP):c.579G>A (p.Thr193=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1510368	NM_006227.4(PLTP):c.578C>T (p.Thr193Met)	PLTP (T141M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600405	NM_006227.4(PLTP):c.561C>T (p.Val187=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2859358	NM_006227.4(PLTP):c.550-17del	PLTP	Deletion (intron 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 1461717	NM_006227.4(PLTP):c.537C>T (p.Leu179=)	PLTP	Single nucleotide variant (synonymous variant)	not provided	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 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 1500998	NM_006227.4(PLTP):c.490G>T (p.Val164Leu)	PLTP (V76L +3 more)	Single nucleotide variant (missense 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 condition +1 more	GLikely benign
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

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