PNPLA2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005123, LOC130005124 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC106783508, LOC106799843 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	ANO9, AP2A2 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 882880	NM_020376.4(PNPLA2):c.-167G>T	LOC121392887, PNPLA2	Single nucleotide variant (5 prime UTR variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 306287	NM_020376.4(PNPLA2):c.-165A>G	PNPLA2, LOC121392887	Single nucleotide variant (5 prime UTR variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 306288	NM_020376.4(PNPLA2):c.-159A>G	LOC121392887, PNPLA2	Single nucleotide variant (5 prime UTR variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1250739	NM_020376.4(PNPLA2):c.-145-110T>G	LOC130005097, PNPLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667943	NM_020376.4(PNPLA2):c.-145-88T>C	LOC130005097, PNPLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326729	NM_020376.4(PNPLA2):c.-145-48G>A	LOC130005097, PNPLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 306289	NM_020376.4(PNPLA2):c.-145-11C>T	LOC130005097, PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 883670	NM_020376.4(PNPLA2):c.-120C>T	LOC130005097, PNPLA2	Single nucleotide variant (5 prime UTR variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 306290	NM_020376.4(PNPLA2):c.-118C>T	LOC130005097, PNPLA2	Single nucleotide variant (5 prime UTR variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 306291	NM_020376.4(PNPLA2):c.-117G>A	LOC130005097, PNPLA2	Single nucleotide variant (5 prime UTR variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 883671	NM_020376.4(PNPLA2):c.-83G>A	PNPLA2, LOC130005097	Single nucleotide variant (5 prime UTR variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 306292	NM_020376.4(PNPLA2):c.-31C>T	LOC130005097, PNPLA2	Single nucleotide variant (5 prime UTR variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 306293	NM_020376.4(PNPLA2):c.-19C>A	LOC130005097, PNPLA2	Single nucleotide variant (5 prime UTR variant)	Neutral lipid storage myopathy	GLikely benign
Select item 1416470	NM_020376.4(PNPLA2):c.10C>T (p.Arg4Cys)	LOC130005097, PNPLA2 (R4C)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 835788	NM_020376.4(PNPLA2):c.11G>A (p.Arg4His)	LOC130005097, PNPLA2 (R4H)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
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 1610462	NM_020376.4(PNPLA2):c.21G>A (p.Thr7=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 465790	NM_020376.4(PNPLA2):c.30C>T (p.Ile10=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy +1 more	GLikely benign
Select item 977522	NM_020376.4(PNPLA2):c.32C>T (p.Ser11Leu)	LOC130005097, PNPLA2 (S11L)	Single nucleotide variant (missense variant)	Abnormality of the musculature	GLikely pathogenic
Select item 2073468	NM_020376.4(PNPLA2):c.33G>C (p.Ser11=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 881329	NM_020376.4(PNPLA2):c.36C>T (p.Phe12=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GConflicting classifications of pathogenicity
Select item 957495	NM_020376.4(PNPLA2):c.40G>A (p.Gly14Ser)	LOC130005097, PNPLA2 (G14S)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 727465	NM_020376.4(PNPLA2):c.42C>T (p.Gly14=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942908	NM_020376.4(PNPLA2):c.43T>A (p.Cys15Ser)	LOC130005097, PNPLA2 (C15S)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
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 1062120	NM_020376.4(PNPLA2):c.52C>T (p.Leu18Phe)	LOC130005097, PNPLA2 (L18F)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1498588	NM_020376.4(PNPLA2):c.55G>C (p.Gly19Arg)	LOC130005097, PNPLA2 (G19R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
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 949144	NM_020376.4(PNPLA2):c.62A>G (p.Tyr21Cys)	LOC130005097, PNPLA2 (Y21C)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
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 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 656573	NM_020376.4(PNPLA2):c.72C>T (p.Gly24=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 1041370	NM_020376.4(PNPLA2):c.74T>C (p.Val25Ala)	LOC130005097, PNPLA2 (V25A)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
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 1345351	NM_020376.4(PNPLA2):c.77C>T (p.Ala26Val)	LOC130005097, PNPLA2 (A26V)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GUncertain significance
Select item 1055938	NM_020376.4(PNPLA2):c.80C>T (p.Ser27Phe)	LOC130005097, PNPLA2 (S27F)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 465799	NM_020376.4(PNPLA2):c.85C>T (p.Leu29Phe)	LOC130005097, PNPLA2 (L29F)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2153053	NM_020376.4(PNPLA2):c.88C>T (p.Arg30Cys)	LOC130005097, PNPLA2 (R30C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1128456	NM_020376.4(PNPLA2):c.90C>G (p.Arg30=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1130794	NM_020376.4(PNPLA2):c.96C>T (p.His32=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 1571389	NM_020376.4(PNPLA2):c.102C>T (p.Pro34=)	PNPLA2, LOC130005097	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 1580637	NM_020376.4(PNPLA2):c.117C>T (p.Asn39=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 566494	NM_020376.4(PNPLA2):c.122C>A (p.Thr41Lys)	LOC130005097, PNPLA2 (T41K)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1974445	NM_020376.4(PNPLA2):c.123G>T (p.Thr41=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2166678	NM_020376.4(PNPLA2):c.127A>G (p.Ile43Val)	LOC130005097, PNPLA2 (I43V)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GUncertain significance
Select item 465783	NM_020376.4(PNPLA2):c.128T>G (p.Ile43Ser)	LOC130005097, PNPLA2 (I43S)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	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
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 1508984	NM_020376.4(PNPLA2):c.157G>A (p.Ala53Thr)	LOC130005097, PNPLA2 (A53T)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1032838	NM_020376.4(PNPLA2):c.161C>G (p.Thr54Arg)	LOC130005097, PNPLA2 (T54R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 710527	NM_020376.4(PNPLA2):c.165G>T (p.Ala55=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	PNPLA2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 534202	NM_020376.4(PNPLA2):c.165G>C (p.Ala55=)	PNPLA2, LOC130005097	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy +1 more	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 759183	NM_020376.4(PNPLA2):c.177G>C (p.Gly59=)	PNPLA2, LOC130005097	Single nucleotide variant (synonymous variant)	PNPLA2-related condition +1 more	GLikely benign
Select item 659464	NM_020376.4(PNPLA2):c.178G>A (p.Val60Ile)	LOC130005097, PNPLA2 (V60I)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
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 520846	NM_020376.4(PNPLA2):c.187+1G>C	LOC130005097, PNPLA2	Single nucleotide variant (splice donor variant)	Neutral lipid storage myopathy +1 more	GPathogenic/Likely pathogenic
Select item 261239	NM_020376.4(PNPLA2):c.187+15G>A	LOC130005097, PNPLA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1619663	NM_020376.4(PNPLA2):c.187+18C>A	LOC130005097, PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign
Select item 667944	NM_020376.4(PNPLA2):c.187+222T>G	PNPLA2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1350250	NM_020376.4(PNPLA2):c.194C>T (p.Ala65Val)	PNPLA2 (A65V)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 534199	NM_020376.4(PNPLA2):c.201C>G (p.Ala67=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 1137856	NM_020376.4(PNPLA2):c.204G>A (p.Lys68=)	PNPLA2	Single nucleotide variant (synonymous 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 2135876	NM_020376.4(PNPLA2):c.226G>A (p.Ala76Thr)	PNPLA2 (A76T)	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 852986	NM_020376.4(PNPLA2):c.230G>A (p.Arg77Gln)	PNPLA2 (R77Q)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 465788	NM_020376.4(PNPLA2):c.235C>T (p.Arg79Trp)	PNPLA2 (R79W)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GUncertain significance
Select item 465789	NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln)	PNPLA2 (R79Q)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GConflicting classifications of pathogenicity
Select item 2145656	NM_020376.4(PNPLA2):c.241C>T (p.Leu81=)	PNPLA2	Single nucleotide variant (synonymous 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 261240	NM_020376.4(PNPLA2):c.246C>A (p.Gly82=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy +1 more	GBenign
Select item 1051284	NM_020376.4(PNPLA2):c.247C>G (p.Pro83Ala)	PNPLA2 (P83A)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
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 534192	NM_020376.4(PNPLA2):c.256C>T (p.Pro86Ser)	PNPLA2 (P86S)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 792614	NM_020376.4(PNPLA2):c.258C>T (p.Pro86=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
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 1564347	NM_020376.4(PNPLA2):c.267C>T (p.Asn89=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
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 704759	NM_020376.4(PNPLA2):c.282C>T (p.Ile94=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 1909280	NM_020376.4(PNPLA2):c.283C>T (p.Arg95Cys)	PNPLA2 (R95C)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1378517	NM_020376.4(PNPLA2):c.284G>A (p.Arg95His)	PNPLA2 (R95H)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2059512	NM_020376.4(PNPLA2):c.291C>T (p.Phe97=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 581659	NM_020376.4(PNPLA2):c.291C>A (p.Phe97Leu)	PNPLA2 (F97L)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 465791	NM_020376.4(PNPLA2):c.310_311delinsAT (p.Ala104Ile)	PNPLA2 (A104I)	Indel (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1439741	NM_020376.4(PNPLA2):c.320A>G (p.His107Arg)	PNPLA2 (H107R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
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 306294	NM_020376.4(PNPLA2):c.326A>G (p.His109Arg)	PNPLA2 (H109R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 534193	NM_020376.4(PNPLA2):c.337C>T (p.Arg113Cys)	PNPLA2 (R113C)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 465792	NM_020376.4(PNPLA2):c.338G>A (p.Arg113His)	PNPLA2 (R113H)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance

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