Total 58 pathogenic variants reported for Neutral lipid storage myopathy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_020376.4(PNPLA2):c.584C>T (p.Pro195Leu) SNV
Germline
Chr11:822494 Pathogenic Neutral lipid storage myopathy Criteria Provided
Single Submitter
CA115259 rs_121918259

2 SubmittersRCV000001951

NM_020376.4(PNPLA2):c.865C>T (p.Gln289Ter) SNV
Germline
Chr11:823801 Pathogenic Neutral lipid storage myopathy No Assertion Criteria Provided
CA115261 rs_121918260

1 SubmittersRCV000001953

NM_020376.4(PNPLA2):c.757+2T>C SNV
Germline
Chr11:823589 Pathogenic Neutral lipid storage myopathy No Assertion Criteria Provided
CA130656 rs_777539013

1 SubmittersRCV000033092

NM_020376.4(PNPLA2):c.749A>C (p.Gln250Pro) SNV
Germline
Chr11:823579 Pathogenic Neutral lipid storage myopathy No Assertion Criteria Provided
CA130657 rs_397514625

1 SubmittersRCV000033093

NM_020376.4(PNPLA2):c.757+1G>T SNV
Germline
Chr11:823588 Pathogenic Neutral lipid storage myopathy Criteria Provided
Multiple Submitters
No Conflicts
CA358599 rs_869320738

4 SubmittersRCV000033094

NM_020376.4(PNPLA2):c.369C>T (p.Asp123=) SNV
Germline
Chr11:821809 Conflicting classifications of pathogenicity not specified
Neutral lipid storage myopathy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5790948 rs_142174851

4 SubmittersRCV000246504RCV000293478RCV003422178

NM_020376.4(PNPLA2):c.487-8C>T SNV
Germline
Chr11:822389 Conflicting classifications of pathogenicity not specified
Neutral lipid storage myopathy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5791028 rs_201418203

4 SubmittersRCV000251437RCV000401409RCV001200078

NM_020376.4(PNPLA2):c.943C>T (p.Pro315Ser) SNV
Germline
Chr11:824021 Conflicting classifications of pathogenicity not specified
Neutral lipid storage myopathy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5791255 rs_150385364

4 SubmittersRCV000253618RCV001442562RCV003422179

NM_020376.4(PNPLA2):c.1327C>G (p.Leu443Val) SNV
Germline
Chr11:824674 Conflicting classifications of pathogenicity not specified
Neutral lipid storage myopathy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5791369 rs_182948893

4 SubmittersRCV000245958RCV000343309RCV002518646

NM_020376.4(PNPLA2):c.1364C>A (p.Pro455Gln) SNV
Germline
Chr11:824711 Conflicting classifications of pathogenicity not specified
Neutral lipid storage myopathy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5791386 rs_187668158

4 SubmittersRCV000250507RCV000401957RCV002518647

NM_020376.4(PNPLA2):c.1430C>T (p.Pro477Leu) SNV
Germline
Chr11:824777 Conflicting classifications of pathogenicity not specified
Condition: not provided
Neutral lipid storage myopathy
Criteria Provided
Conflicting Classifications
CA5791408 rs_142588621

6 SubmittersRCV000245505RCV000714556RCV001084354

NM_020376.4(PNPLA2):c.591C>T (p.Asp197=) SNV
Germline
Chr11:822501 Conflicting classifications of pathogenicity Neutral lipid storage myopathy
PNPLA2-related disorder
Criteria Provided
Conflicting Classifications
CA5791057 rs_200897893

3 SubmittersRCV000344798RCV003910129

NM_020376.4(PNPLA2):c.399C>T (p.Asn133=) SNV
Germline
Chr11:821839 Conflicting classifications of pathogenicity Neutral lipid storage myopathy Criteria Provided
Conflicting Classifications
CA5790957 rs_143992505

2 SubmittersRCV000346165

NM_020376.4(PNPLA2):c.903C>T (p.Pro301=) SNV
Germline
Chr11:823839 Conflicting classifications of pathogenicity Neutral lipid storage myopathy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5791220 rs_141190104

3 SubmittersRCV000332934RCV003422255

NM_020376.4(PNPLA2):c.964C>T (p.Leu322Phe) SNV
Germline
Chr11:824042 Conflicting classifications of pathogenicity Neutral lipid storage myopathy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5791260 rs_137866968

3 SubmittersRCV000383623RCV001836764

NM_020376.4(PNPLA2):c.1181C>A (p.Pro394Gln) SNV
Germline
Chr11:824528 Conflicting classifications of pathogenicity Neutral lipid storage myopathy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5791331 rs_373114735

4 SubmittersRCV000382845RCV002520774

NM_020376.4(PNPLA2):c.487-7G>C SNV
Germline
Chr11:822390 Conflicting classifications of pathogenicity Neutral lipid storage myopathy
PNPLA2-related disorder
Criteria Provided
Conflicting Classifications
CA5791029 rs_372342635

3 SubmittersRCV000306235RCV003920265

NM_020376.4(PNPLA2):c.747G>A (p.Leu249=) SNV
Germline
Chr11:823577 Conflicting classifications of pathogenicity Neutral lipid storage myopathy Criteria Provided
Conflicting Classifications
CA5791127 rs_140959695

2 SubmittersRCV000359633

NM_020376.4(PNPLA2):c.781T>C (p.Leu261=) SNV
Germline
Chr11:823717 Conflicting classifications of pathogenicity Neutral lipid storage myopathy
PNPLA2-related disorder
Criteria Provided
Conflicting Classifications
CA5791179 rs_758918583

3 SubmittersRCV000262589RCV003977890

NM_020376.4(PNPLA2):c.912C>A (p.Leu304=) SNV
Germline
Chr11:823848 Conflicting classifications of pathogenicity Neutral lipid storage myopathy Criteria Provided
Conflicting Classifications
CA10639532 rs_886048710

2 SubmittersRCV000371374

NM_020376.4(PNPLA2):c.1220C>T (p.Ser407Phe) SNV
Germline
Chr11:824567 Conflicting classifications of pathogenicity Neutral lipid storage myopathy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5791341 rs_202081894

4 SubmittersRCV000286119RCV003221903

NM_020376.4(PNPLA2):c.1277A>G (p.Asn426Ser) SNV
Germline
Chr11:824624 Conflicting classifications of pathogenicity Condition: not provided
Neutral lipid storage myopathy
Criteria Provided
Conflicting Classifications
CA5791354 rs_140634178

3 SubmittersRCV000497628RCV001079255

NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln) SNV
Germline
Chr11:821676 Conflicting classifications of pathogenicity Neutral lipid storage myopathy Criteria Provided
Conflicting Classifications
CA5790927 rs_139576982

4 SubmittersRCV000528874

NM_020376.4(PNPLA2):c.187+1G>C SNV
Germline
Chr11:819906 Pathogenic/Likely pathogenic Inborn genetic diseases
Neutral lipid storage myopathy
Criteria Provided
Multiple Submitters
No Conflicts
CA378977291 rs_1554975332

2 SubmittersRCV000624017RCV003497872

NM_020376.4(PNPLA2):c.1491C>T (p.Pro497=) SNV
Germline
Chr11:824838 Conflicting classifications of pathogenicity Neutral lipid storage myopathy Criteria Provided
Conflicting Classifications
CA472441737 rs_1434319423

2 SubmittersRCV000641669

NM_020376.4(PNPLA2):c.1266G>A (p.Trp422Ter) SNV
Germline
Chr11:824613 Conflicting classifications of pathogenicity Neutral lipid storage myopathy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_944560685

4 SubmittersRCV000779083RCV002254316

NM_020376.4(PNPLA2):c.662G>C (p.Arg221Pro) SNV
Germline
Chr11:822572 Pathogenic Neutral lipid storage myopathy Criteria Provided
Multiple Submitters
No Conflicts
rs_554737718

2 SubmittersRCV000821800

NM_020376.4(PNPLA2):c.492C>T (p.Tyr164=) SNV
Germline
Chr11:822402 Conflicting classifications of pathogenicity Neutral lipid storage myopathy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_147314508

3 SubmittersRCV000865436RCV001779090

NM_020376.4(PNPLA2):c.726C>T (p.Tyr242=) SNV
Germline
Chr11:823556 Conflicting classifications of pathogenicity Neutral lipid storage myopathy Criteria Provided
Conflicting Classifications
rs_144220751

2 SubmittersRCV001114384

NM_020376.4(PNPLA2):c.597C>T (p.Ser199=) SNV
Germline
Chr11:822507 Conflicting classifications of pathogenicity Neutral lipid storage myopathy Criteria Provided
Conflicting Classifications
rs_552415591

2 SubmittersRCV000951875

NM_020376.4(PNPLA2):c.806C>T (p.Pro269Leu) SNV
Germline
Chr11:823742 Conflicting classifications of pathogenicity Neutral lipid storage myopathy Criteria Provided
Conflicting Classifications
rs_201894536

2 SubmittersRCV000972971

NM_020376.4(PNPLA2):c.1090C>T (p.Arg364Trp) SNV
Germline
Chr11:824351 Conflicting classifications of pathogenicity Neutral lipid storage myopathy
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_577421006

3 SubmittersRCV001111096RCV003328640

NM_020376.4(PNPLA2):c.165G>T (p.Ala55=) SNV
Germline
Chr11:819883 Conflicting classifications of pathogenicity Neutral lipid storage myopathy
PNPLA2-related disorder
Criteria Provided
Conflicting Classifications
rs_761885395

3 SubmittersRCV000882121RCV003948318

NM_020376.4(PNPLA2):c.36C>T (p.Phe12=) SNV
Germline
Chr11:819754 Conflicting classifications of pathogenicity Neutral lipid storage myopathy Criteria Provided
Conflicting Classifications
rs_750233571

2 SubmittersRCV001110266

NM_020376.4(PNPLA2):c.487-15T>G SNV
Germline
Chr11:822382 Conflicting classifications of pathogenicity Neutral lipid storage myopathy Criteria Provided
Conflicting Classifications
rs_749452055

2 SubmittersRCV001111017

NM_020376.4(PNPLA2):c.487-7G>A SNV
Germline
Chr11:822390 Conflicting classifications of pathogenicity Neutral lipid storage myopathy
PNPLA2-related disorder
Criteria Provided
Conflicting Classifications
rs_372342635

3 SubmittersRCV001111018RCV003953483

NM_020376.4(PNPLA2):c.32C>T (p.Ser11Leu) SNV
Germline
Chr11:819750 Likely pathogenic Neutral lipid storage myopathy
Abnormality of the musculature
Criteria Provided
Single Submitter
rs_868742399

2 SubmittersRCV001255207RCV001814293

NM_020376.4(PNPLA2):c.758-1G>C SNV
Germline
Chr11:823693 Likely pathogenic Neutral lipid storage myopathy Criteria Provided
Single Submitter
rs_1318685186

1 SubmittersRCV001376180

NM_020376.4(PNPLA2):c.687G>A (p.Pro229=) SNV
Germline
Chr11:822597 Conflicting classifications of pathogenicity Neutral lipid storage myopathy Criteria Provided
Conflicting Classifications
rs_371893260

2 SubmittersRCV001938605

NM_020376.4(PNPLA2):c.497A>G (p.Asp166Gly) SNV
Germline
Chr11:822407 Likely pathogenic Neutral lipid storage myopathy Criteria Provided
Single Submitter

1 SubmittersRCV003062309

NM_020376.4(PNPLA2):c.421-1G>A SNV
Germline
Chr11:821957 Likely pathogenic Neutral lipid storage myopathy Criteria Provided
Single Submitter

1 SubmittersRCV003067561

NM_020376.4(PNPLA2):c.63C>G (p.Tyr21Ter) SNV
Germline
Chr11:819781 Pathogenic Neutral lipid storage myopathy Criteria Provided
Single Submitter

1 SubmittersRCV003498521

NM_020376.4(PNPLA2):c.45C>A (p.Cys15Ter) SNV
Germline
Chr11:819763 Pathogenic Neutral lipid storage myopathy Criteria Provided
Single Submitter

1 SubmittersRCV003600240

NM_020376.4(PNPLA2):c.245G>A (p.Gly82Asp) SNV
Germline
Chr11:821685 Likely pathogenic Neutral lipid storage myopathy Criteria Provided
Single Submitter

1 SubmittersRCV003601109