PLIN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 3600402	NM_002666.5(PLIN1):c.1559A>G (p.Lys520Arg)	PLIN1 (K520R)	Single nucleotide variant (missense variant)	PLIN1-related familial partial lipodystrophy	GUncertain significance
Select item 2353199	NM_002666.5(PLIN1):c.1556G>T (p.Arg519Leu)	PLIN1 (R519L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338236	NM_002666.5(PLIN1):c.1556G>C (p.Arg519Pro)	PLIN1 (R519P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3420785	NM_002666.5(PLIN1):c.1535G>T (p.Arg512Leu)	PLIN1 (R512L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215228	NM_002666.5(PLIN1):c.1507C>T (p.Pro503Ser)	PLIN1 (P503S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345667	NM_002666.5(PLIN1):c.1448G>A (p.Gly483Asp)	PLIN1 (G483D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305643	NM_002666.5(PLIN1):c.1448G>C (p.Gly483Ala)	PLIN1 (G483A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307731	NM_002666.5(PLIN1):c.1439C>T (p.Pro480Leu)	PLIN1 (P480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734193	NM_002666.5(PLIN1):c.1426_1439del (p.Thr476fs)	PLIN1 (T476fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2489597	NM_002666.5(PLIN1):c.1432G>A (p.Ala478Thr)	PLIN1 (A478T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355772	NM_002666.5(PLIN1):c.1395C>T (p.Pro465=)	LOC130057886, PLIN1	Single nucleotide variant (synonymous variant)	PLIN1-related disorder	GLikely benign
Select item 3044124	NM_002666.5(PLIN1):c.1395C>A (p.Pro465=)	LOC130057886, PLIN1	Single nucleotide variant (synonymous variant)	PLIN1-related disorder	GLikely benign
Select item 710652	NM_002666.5(PLIN1):c.1392G>T (p.Ala464=)	LOC130057886, PLIN1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3033886	NM_002666.5(PLIN1):c.1386C>G (p.Pro462=)	LOC130057886, PLIN1	Single nucleotide variant (synonymous variant)	PLIN1-related disorder	GLikely benign
Select item 436334	NM_002666.5(PLIN1):c.1386C>T (p.Pro462=)	LOC130057886, PLIN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2386608	NM_002666.5(PLIN1):c.1385C>T (p.Pro462Leu)	LOC130057886, PLIN1 (P462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215227	NM_002666.5(PLIN1):c.1375G>A (p.Ala459Thr)	LOC130057886, PLIN1 (A459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329193	NM_002666.5(PLIN1):c.1324G>A (p.Gly442Ser)	LOC130057886, PLIN1 (G442S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307738	NM_002666.5(PLIN1):c.1310G>T (p.Gly437Val)	LOC130057886, PLIN1 (G437V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342123	NM_002666.5(PLIN1):c.1308_1309del (p.Pro439fs)	LOC130057886, PLIN1 (P439fs)	Deletion (frameshift variant)	PLIN1-related familial partial lipodystrophy	GPathogenic
Select item 3215226	NM_002666.5(PLIN1):c.1306T>C (p.Ser436Pro)	LOC130057886, PLIN1 (S436P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3388231	NM_002666.5(PLIN1):c.1284_1286dup (p.Arg429_Glu430insArg)	PLIN1	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 2527902	NM_002666.5(PLIN1):c.1286G>C (p.Arg429Pro)	PLIN1 (R429P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2435085	NM_002666.5(PLIN1):c.1280A>G (p.Glu427Gly)	PLIN1 (E427G)	Single nucleotide variant (missense variant)	PLIN1-related familial partial lipodystrophy	GUncertain significance
Select item 3307736	NM_002666.5(PLIN1):c.1256T>G (p.Ile419Ser)	PLIN1 (I419S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 129972	NM_002666.5(PLIN1):c.1248C>T (p.Phe416=)	PLIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 740878	NM_002666.5(PLIN1):c.1236C>T (p.Pro412=)	PLIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2318069	NM_002666.5(PLIN1):c.1231G>A (p.Glu411Lys)	PLIN1 (E411K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 842596	NM_002666.5(PLIN1):c.1210C>T (p.Leu404Phe)	PLIN1 (L404F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 995943	NM_002666.5(PLIN1):c.1210-1del	PLIN1	Deletion (splice acceptor variant)	PLIN1-related familial partial lipodystrophy	GPathogenic
Select item 29827	NM_002666.5(PLIN1):c.1210-1G>T	PLIN1	Single nucleotide variant (splice acceptor variant)	PLIN1-related familial partial lipodystrophy	GPathogenic
Select item 762257	NM_002666.5(PLIN1):c.1209+9C>T	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3051345	NM_002666.5(PLIN1):c.1206G>A (p.Val402=)	PLIN1	Single nucleotide variant (synonymous variant)	PLIN1-related disorder	GLikely benign
Select item 1328211	NM_002666.5(PLIN1):c.1204G>A (p.Val402Met)	PLIN1 (V402M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342124	NM_002666.5(PLIN1):c.1201_1202dup (p.Val402fs)	PLIN1 (V402fs)	Duplication (frameshift variant)	PLIN1-related familial partial lipodystrophy	GPathogenic
Select item 29828	NM_002666.5(PLIN1):c.1191_1192del (p.Val398fs)	PLIN1 (V398fs)	Deletion (frameshift variant)	PLIN1-related familial partial lipodystrophy	GPathogenic
Select item 2316646	NM_002666.5(PLIN1):c.1180G>A (p.Val394Met)	PLIN1 (V394M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728100	NM_002666.5(PLIN1):c.1179C>T (p.Asn393=)	PLIN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2349223	NM_002666.5(PLIN1):c.1154A>G (p.Asp385Gly)	PLIN1 (D385G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 129967	NM_002666.5(PLIN1):c.1139C>T (p.Ala380Val)	PLIN1 (A380V)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GConflicting classifications of pathogenicity
Select item 2249951	NM_002666.5(PLIN1):c.1138G>A (p.Ala380Thr)	PLIN1 (A380T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685012	NM_002666.5(PLIN1):c.1136G>A (p.Arg379Lys)	PLIN1 (R379K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287616	NM_002666.5(PLIN1):c.1126A>T (p.Thr376Ser)	PLIN1 (T376S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307733	NM_002666.5(PLIN1):c.1121C>T (p.Ser374Phe)	PLIN1 (S374F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 129971	NM_002666.5(PLIN1):c.1119C>T (p.Val373=)	PLIN1	Single nucleotide variant (synonymous variant)	PLIN1-related familial partial lipodystrophy +1 more	GBenign
Select item 3307732	NM_002666.5(PLIN1):c.1114G>A (p.Ala372Thr)	PLIN1 (A372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 129970	NM_002666.5(PLIN1):c.1113T>C (p.Pro371=)	PLIN1	Single nucleotide variant (synonymous variant)	PLIN1-related familial partial lipodystrophy +1 more	GBenign
Select item 1336587	NM_002666.5(PLIN1):c.1111C>T (p.Pro371Ser)	PLIN1 (P371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364411	NM_002666.5(PLIN1):c.1058C>T (p.Ala353Val)	PLIN1 (A353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 129969	NM_002666.5(PLIN1):c.1043C>T (p.Ser348Leu)	PLIN1 (S348L)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GBenign
Select item 3307737	NM_002666.5(PLIN1):c.1036A>G (p.Thr346Ala)	PLIN1 (T346A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1029621	NM_002666.5(PLIN1):c.1033A>G (p.Thr345Ala)	PLIN1 (T345A)	Single nucleotide variant (missense variant)	PLIN1-related familial partial lipodystrophy +1 more	GUncertain significance
Select item 3215225	NM_002666.5(PLIN1):c.1007C>T (p.Ala336Val)	PLIN1 (A336V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 436337	NM_002666.5(PLIN1):c.993C>T (p.Leu331=)	PLIN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 549543	NM_002666.5(PLIN1):c.991C>T (p.Leu331Phe)	PLIN1 (L331F)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance
Select item 1328362	NM_002666.5(PLIN1):c.990C>T (p.Gly330=)	PLIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057766	NM_002666.5(PLIN1):c.985C>T (p.Arg329Ter)	PLIN1 (R329*)	Single nucleotide variant (nonsense)	PLIN1-related disorder	GUncertain significance
Select item 796870	NM_002666.5(PLIN1):c.981C>T (p.Gly327=)	PLIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 436335	NM_002666.5(PLIN1):c.975G>C (p.Leu325=)	PLIN1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 549544	NM_002666.5(PLIN1):c.964-1G>A	PLIN1	Single nucleotide variant (splice acceptor variant)	Monogenic diabetes	GUncertain significance
Select item 1289294	NM_002666.5(PLIN1):c.964-25G>T	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224585	NM_002666.5(PLIN1):c.964-72C>A	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2315132	NM_002666.5(PLIN1):c.908G>A (p.Gly303Glu)	PLIN1 (G303E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294636	NM_002666.5(PLIN1):c.908G>C (p.Gly303Ala)	PLIN1 (G303A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 634585	NM_002666.5(PLIN1):c.902C>T (p.Thr301Met)	PLIN1 (T301M)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GConflicting classifications of pathogenicity
Select item 2574379	NM_002666.5(PLIN1):c.898G>C (p.Asp300His)	PLIN1 (D300H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3215233	NM_002666.5(PLIN1):c.882T>A (p.Asp294Glu)	PLIN1 (D294E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307739	NM_002666.5(PLIN1):c.862G>A (p.Ala288Thr)	PLIN1 (A288T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 917445	NM_002666.5(PLIN1):c.838C>T (p.Arg280Trp)	PLIN1 (R280W)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign
Select item 3420782	NM_002666.5(PLIN1):c.832G>A (p.Glu278Lys)	PLIN1 (E278K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725019	NM_002666.5(PLIN1):c.831C>T (p.Ser277=)	PLIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053643	NM_002666.5(PLIN1):c.825G>T (p.Arg275=)	PLIN1	Single nucleotide variant (synonymous variant)	PLIN1-related disorder	GLikely benign
Select item 3420784	NM_002666.5(PLIN1):c.823C>G (p.Arg275Gly)	PLIN1 (R275G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590115	NM_002666.5(PLIN1):c.823C>T (p.Arg275Trp)	PLIN1 (R275W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307734	NM_002666.5(PLIN1):c.818C>T (p.Ser273Phe)	PLIN1 (S273F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 393437	NM_002666.5(PLIN1):c.814G>A (p.Val272Met)	PLIN1 (V272M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 129974	NM_002666.5(PLIN1):c.812C>T (p.Ala271Val)	PLIN1 (A271V)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GBenign
Select item 1250333	NM_002666.5(PLIN1):c.772-23T>A	PLIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1273835	NM_002666.5(PLIN1):c.772-104C>T	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179845	NM_002666.5(PLIN1):c.772-147A>C	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287422	NM_002666.5(PLIN1):c.772-151del	PLIN1	Deletion (intron variant)	not provided	GBenign
Select item 1287480	NM_002666.5(PLIN1):c.771+119G>C	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129968	NM_002666.5(PLIN1):c.771+6T>C	PLIN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2266932	NM_002666.5(PLIN1):c.760G>A (p.Val254Met)	PLIN1 (V254M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 393438	NM_002666.5(PLIN1):c.692G>T (p.Arg231Leu)	PLIN1 (R231L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2645695	NM_002666.5(PLIN1):c.690_691del (p.Arg231fs)	PLIN1 (R231fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1339162	NM_002666.5(PLIN1):c.691C>T (p.Arg231Ter)	PLIN1 (R231*)	Single nucleotide variant (nonsense)	PLIN1-related familial partial lipodystrophy	GLikely pathogenic
Select item 3420783	NM_002666.5(PLIN1):c.676A>C (p.Thr226Pro)	PLIN1 (T226P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298136	NM_002666.5(PLIN1):c.651C>A (p.Ser217Arg)	PLIN1 (S217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228910	NM_002666.5(PLIN1):c.644A>G (p.Lys215Arg)	PLIN1 (K215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1236889	NM_002666.5(PLIN1):c.598+77A>T	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign

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