ClinVar for Gene (Select 57104) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308169	NM_020376.4(PNPLA2):c.361G>A (p.Val121Met)	PNPLA2 (V121M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254636	NM_020376.4(PNPLA2):c.91G>T (p.Glu31Ter)	LOC130005097, PNPLA2 (E31*)	Single nucleotide variant (nonsense)	Neutral lipid storage myopathy	GLikely pathogenic
Select item 3244624	NC_000011.9:g.(?_823507)_(824862_?)del	PNPLA2	Deletion	Neutral lipid storage myopathy	GUncertain significance
Select item 3244591	NC_000011.9:g.(?_532636)_(824862_?)dup	EPS8L2, CDHR5 +20 more	Duplication	Costello syndrome	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3216043	NM_020376.4(PNPLA2):c.904G>A (p.Ala302Thr)	PNPLA2 (A302T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216042	NM_020376.4(PNPLA2):c.400T>C (p.Ser134Pro)	PNPLA2 (S134P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216041	NM_020376.4(PNPLA2):c.1358C>T (p.Ala453Val)	PNPLA2 (A453V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216040	NM_020376.4(PNPLA2):c.1244A>G (p.Tyr415Cys)	PNPLA2 (Y415C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063226	GRCh37/hg19 11p15.5(chr11:743761-894572)x1	CD151, CEND1 +10 more	Copy number loss	not specified	GUncertain significance
Select item 3020489	NM_020376.4(PNPLA2):c.920-20G>A	PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 3017533	NM_020376.4(PNPLA2):c.1198C>T (p.Arg400Cys)	PNPLA2 (R400C)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 3017385	NM_020376.4(PNPLA2):c.906C>T (p.Ala302=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 3011418	NM_020376.4(PNPLA2):c.76G>A (p.Ala26Thr)	LOC130005097, PNPLA2 (A26T)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 3009108	NM_020376.4(PNPLA2):c.697-15C>T	PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 3003450	NM_020376.4(PNPLA2):c.18G>A (p.Lys6=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 3003371	NM_020376.4(PNPLA2):c.1278C>T (p.Asn426=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 3001101	NM_020376.4(PNPLA2):c.60C>T (p.Val20=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2987866	NM_020376.4(PNPLA2):c.757+7G>A	PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2985673	NM_020376.4(PNPLA2):c.182G>T (p.Cys61Phe)	LOC130005097, PNPLA2 (C61F)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2974288	NM_020376.4(PNPLA2):c.919+15dup	PNPLA2	Duplication (intron variant)	Neutral lipid storage myopathy	GBenign
Select item 2957946	NM_020376.4(PNPLA2):c.420+14G>A	PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2918134	NM_020376.4(PNPLA2):c.188-4C>T	PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2914025	NM_020376.4(PNPLA2):c.1053-14C>T	PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2913129	NM_020376.4(PNPLA2):c.1413C>A (p.Pro471=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2912638	NM_020376.4(PNPLA2):c.441C>T (p.Phe147=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2908329	NM_020376.4(PNPLA2):c.919+20del	PNPLA2	Deletion (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2900685	NM_020376.4(PNPLA2):c.245G>A (p.Gly82Asp)	PNPLA2 (G82D)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GLikely pathogenic
Select item 2893642	NM_020376.4(PNPLA2):c.1395C>G (p.Ala465=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2892464	NM_020376.4(PNPLA2):c.739C>T (p.Arg247Cys)	PNPLA2 (R247C)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2885585	NM_020376.4(PNPLA2):c.951C>T (p.Asp317=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2883122	NM_020376.4(PNPLA2):c.758-20C>T	PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2879553	NM_020376.4(PNPLA2):c.45C>A (p.Cys15Ter)	LOC130005097, PNPLA2 (C15*)	Single nucleotide variant (nonsense)	Neutral lipid storage myopathy	GPathogenic
Select item 2862840	NM_020376.4(PNPLA2):c.250C>T (p.Leu84=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2848300	NM_020376.4(PNPLA2):c.763C>T (p.Leu255=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2844276	NM_020376.4(PNPLA2):c.393C>T (p.His131=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2837527	NM_020376.4(PNPLA2):c.927G>A (p.Leu309=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2832562	NM_020376.4(PNPLA2):c.771G>A (p.Arg257=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2812861	NM_020376.4(PNPLA2):c.792G>A (p.Leu264=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2810048	NM_020376.4(PNPLA2):c.919+21_919+24del	PNPLA2	Deletion (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2805518	NM_020376.4(PNPLA2):c.1446C>T (p.Ala482=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2804701	NM_020376.4(PNPLA2):c.921C>G (p.Ala307=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2786665	NM_020376.4(PNPLA2):c.675C>T (p.Ala225=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2783345	NM_020376.4(PNPLA2):c.421-9G>T	PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2780175	NM_020376.4(PNPLA2):c.919+18G>A	PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2758860	NM_020376.4(PNPLA2):c.696+14C>G	PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2757371	NM_020376.4(PNPLA2):c.63C>G (p.Tyr21Ter)	LOC130005097, PNPLA2 (Y21*)	Single nucleotide variant (nonsense)	Neutral lipid storage myopathy	GPathogenic
Select item 2753390	NM_020376.4(PNPLA2):c.738G>A (p.Leu246=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2739803	NM_020376.4(PNPLA2):c.824A>G (p.Lys275Arg)	PNPLA2 (K275R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2738479	NM_020376.4(PNPLA2):c.1053-10C>A	PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2735395	NM_020376.4(PNPLA2):c.231_232insGGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGCCCGG (p.Lys78delinsGlyTrpArgArgGlyPheAlaValLeuAlaGlyLeuValSerSerSerTer)	PNPLA2	Insertion (nonsense)	Neutral lipid storage myopathy	GPathogenic
Select item 2732747	NM_020376.4(PNPLA2):c.1404T>C (p.Ala468=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2717651	NM_020376.4(PNPLA2):c.757+13G>A	PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2716929	NM_020376.4(PNPLA2):c.920-5C>T	PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2716567	NM_020376.4(PNPLA2):c.753G>A (p.Arg251=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2706705	NM_020376.4(PNPLA2):c.1041C>T (p.Ser347=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2696850	NM_020376.4(PNPLA2):c.171C>T (p.Val57=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2689801	NM_020376.4(PNPLA2):c.1416_1475del (p.Asp473_Ala492del)	PNPLA2	Deletion (inframe_deletion)	Neutral lipid storage myopathy	GUncertain significance
Select item 2689800	NM_020376.4(PNPLA2):c.1450C>A (p.Pro484Thr)	PNPLA2 (P484T)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2689799	NM_020376.4(PNPLA2):c.1435C>A (p.His479Asn)	PNPLA2 (H479N)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2683130	NM_020376.4(PNPLA2):c.322G>A (p.Glu108Lys)	PNPLA2 (E108K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641098	NM_020376.4(PNPLA2):c.1335C>G (p.Leu445=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy +1 more	GLikely benign
Select item 2641097	NM_020376.4(PNPLA2):c.834A>C (p.Ala278=)	PNPLA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611290	NM_020376.4(PNPLA2):c.1258C>T (p.Pro420Ser)	PNPLA2 (P420S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610867	NM_020376.4(PNPLA2):c.808C>A (p.His270Asn)	PNPLA2 (H270N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517591	NM_020376.4(PNPLA2):c.697G>A (p.Val233Met)	PNPLA2 (V233M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2435117	NM_020376.4(PNPLA2):c.665T>C (p.Leu222Pro)	PNPLA2 (L222P)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435116	NM_020376.4(PNPLA2):c.1421C>G (p.Pro474Arg)	PNPLA2 (P474R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GUncertain significance
Select item 2435115	NM_020376.4(PNPLA2):c.982G>T (p.Val328Leu)	PNPLA2 (V328L)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435114	NM_020376.4(PNPLA2):c.975G>A (p.Met325Ile)	PNPLA2 (M325I)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435113	NM_020376.4(PNPLA2):c.279C>G (p.Ile93Met)	PNPLA2 (I93M)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435111	NM_020376.4(PNPLA2):c.1454C>T (p.Ala485Val)	PNPLA2 (A485V)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435110	NM_020376.4(PNPLA2):c.467C>T (p.Pro156Leu)	PNPLA2 (P156L)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435109	NM_020376.4(PNPLA2):c.542C>T (p.Thr181Ile)	PNPLA2 (T181I)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435108	NM_020376.4(PNPLA2):c.1142C>T (p.Ala381Val)	PNPLA2 (A381V)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435107	NM_020376.4(PNPLA2):c.229C>T (p.Arg77Trp)	PNPLA2 (R77W)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435106	NM_020376.4(PNPLA2):c.260C>T (p.Ser87Phe)	PNPLA2 (S87F)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435105	NM_020376.4(PNPLA2):c.1459T>G (p.Leu487Val)	PNPLA2 (L487V)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435104	NM_020376.4(PNPLA2):c.1447_1451del (p.Gly483fs)	PNPLA2 (G483fs)	Deletion (frameshift variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2426547	NC_000011.9:g.(?_822584)_(827508_?)del	PNPLA2	Deletion	Neutral lipid storage myopathy	GUncertain significance
Select item 2426546	NC_000011.9:g.(?_532636)_(819925_?)dup	CDHR5, CEND1 +20 more	Duplication	Neutral lipid storage myopathy	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 2420167	NM_020376.4(PNPLA2):c.487-18_487-15del	PNPLA2	Microsatellite (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2418737	NM_020376.4(PNPLA2):c.757+20_757+33dup	PNPLA2	Duplication (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2392594	NM_020376.4(PNPLA2):c.1439A>G (p.Gln480Arg)	PNPLA2 (Q480R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330169	NM_020376.4(PNPLA2):c.752G>C (p.Arg251Pro)	PNPLA2 (R251P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301418	NM_020376.4(PNPLA2):c.822C>G (p.Asp274Glu)	PNPLA2 (D274E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2287406	NM_020376.4(PNPLA2):c.488G>A (p.Arg163His)	PNPLA2 (R163H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253124	NM_020376.4(PNPLA2):c.1150A>C (p.Lys384Gln)	PNPLA2 (K384Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225239	NM_020376.4(PNPLA2):c.70G>T (p.Gly24Cys)	LOC130005097, PNPLA2 (G24C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197994	NM_020376.4(PNPLA2):c.138C>T (p.Ala46=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2196110	NM_020376.4(PNPLA2):c.1191G>A (p.Val397=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2193286	NM_020376.4(PNPLA2):c.1181C>T (p.Pro394Leu)	PNPLA2 (P394L)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2192033	NM_020376.4(PNPLA2):c.918G>C (p.Glu306Asp)	PNPLA2 (E306D)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2191247	NM_020376.4(PNPLA2):c.1283C>T (p.Ser428Leu)	PNPLA2 (S428L)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2179640	NM_020376.4(PNPLA2):c.1457C>G (p.Pro486Arg)	PNPLA2 (P486R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2177803	NM_020376.4(PNPLA2):c.875G>A (p.Gly292Glu)	PNPLA2 (G292E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2174880	NM_020376.4(PNPLA2):c.131A>G (p.Tyr44Cys)	LOC130005097, PNPLA2 (Y44C)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance

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