Total 211 pathogenic variants reported for Infantile neuroaxonal dystrophy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) SNV
Germline
Chr22:38112212 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
Iron accumulation in brain
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
PLA2G6-associated neurodegeneration
Neurodegeneration with brain iron accumulation 2B
Autism
Seizure
Abnormality of the nervous system
Neurodegeneration with brain iron accumulation
PLA2G6-related disorder
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA173265 rs_121908680

24 SubmittersRCV000006572RCV000147321RCV000763481RCV000778661RCV001333134RCV001250474RCV001813959RCV002265549RCV003407288RCV000323935RCV000623021

NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu) SNV
Germline
Chr22:38132979 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Criteria Provided
Conflicting Classifications
CA253794 rs_121908682

4 SubmittersRCV000006574RCV002512835

NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) SNV
Germline
Chr22:38115667 Pathogenic/Likely pathogenic Karak syndrome
Neurodegeneration with brain iron accumulation
Condition: not provided
PLA2G6-associated neurodegeneration
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA118062 rs_121908683

7 SubmittersRCV000006576RCV001582469RCV001092011RCV002512836RCV005031400RCV003507245

NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) SNV
Germline
Chr22:38145625 Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
PLA2G6-associated neurodegeneration
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA253795 rs_121908685

7 SubmittersRCV000006580RCV000535771RCV000660638RCV002512839RCV001540404

NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) SNV
Germline
Chr22:38112558 Pathogenic/Likely pathogenic Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Condition: not provided
Autosomal recessive Parkinson disease 14
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation
Criteria Provided
Multiple Submitters
No Conflicts
CA253797 rs_121908686

13 SubmittersRCV000006581RCV000811054RCV001251187RCV001588801RCV002496284RCV003155018

NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) SNV
Germline
Chr22:38112541 Pathogenic/Likely pathogenic Autosomal recessive Parkinson disease 14
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA253798 rs_121908687

8 SubmittersRCV000006582RCV000763482RCV001268312RCV002512840RCV003507246

NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) SNV
Germline
Chr22:38115657 Pathogenic/Likely pathogenic Autosomal recessive Parkinson disease 14
PLA2G6-associated neurodegeneration
Condition: not provided
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA259782 rs_387906863

5 SubmittersRCV000023314RCV000779372RCV002273936RCV002477008RCV002513186

NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) SNV
Germline
Chr22:38169318 Pathogenic Infantile neuroaxonal dystrophy
Iron accumulation in brain
Condition: not provided
PLA2G6-associated neurodegeneration
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Criteria Provided
Multiple Submitters
No Conflicts
CA173198 rs_200075782

10 SubmittersRCV000023318RCV000147282RCV000255026RCV002513187RCV003105777RCV005031452

NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) SNV
Germline
Chr22:38132917 Pathogenic Condition: not provided
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
PLA2G6-associated neurodegeneration
Criteria Provided
Multiple Submitters
No Conflicts
CA259786 rs_199935023

8 SubmittersRCV000498427RCV000023319RCV001852019RCV005025079RCV002513188

NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser) SNV
Germline
Chr22:38112534 Conflicting classifications of pathogenicity Iron accumulation in brain
Condition: not provided
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
not specified
Criteria Provided
Conflicting Classifications
CA173260 rs_587784351

5 SubmittersRCV000147318RCV000489829RCV001849997RCV005411351RCV004689625

NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) SNV
Germline
Chr22:38112547 Pathogenic/Likely pathogenic Iron accumulation in brain
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Multiple Submitters
No Conflicts
CA173258 rs_587784350

4 SubmittersRCV000147317RCV000985141RCV003507259RCV003883135

NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) SNV
Germline
Chr22:38112565 Conflicting classifications of pathogenicity Iron accumulation in brain
Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA173256 rs_587784349

8 SubmittersRCV000147316RCV000254887RCV000778662RCV000793778RCV005031652RCV002515980

NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) SNV
Germline
Chr22:38113561 Conflicting classifications of pathogenicity Iron accumulation in brain
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Criteria Provided
Conflicting Classifications
CA173253 rs_587784347

4 SubmittersRCV000147314RCV000537119RCV002515979

NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) SNV
Germline
Chr22:38113591 Conflicting classifications of pathogenicity Iron accumulation in brain
Condition: not provided
PLA2G6-associated neurodegeneration
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA173251 rs_587784346

6 SubmittersRCV000147313RCV001781485RCV002515978RCV005031651RCV003507258

NM_003560.4(PLA2G6):c.1978C>T (p.Pro660Ser) SNV
Germline
Chr22:38115583 Conflicting classifications of pathogenicity Iron accumulation in brain
Infantile neuroaxonal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA173239 rs_587784341

3 SubmittersRCV000147306RCV001849995RCV001657842

NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) SNV
Germline
Chr22:38115658 Pathogenic Iron accumulation in brain
Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Multiple Submitters
No Conflicts
CA173235 rs_587784339

9 SubmittersRCV000147304RCV000313731RCV000600346RCV000680170RCV005025226

NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) SNV
Germline
Chr22:38116155 Pathogenic/Likely pathogenic Iron accumulation in brain
Condition: not provided
Neurodegeneration with brain iron accumulation 2B
Inborn genetic diseases
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation
Infantile osteopetrosis with neuroaxonal dysplasia
PLA2G6-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA173233 rs_149712244

13 SubmittersRCV000147303RCV000413569RCV000578256RCV000624119RCV001849994RCV002514837RCV002505129RCV003226213RCV003338422RCV003927441

NM_003560.4(PLA2G6):c.1754C>T (p.Thr585Ile) SNV
Germline
Chr22:38116200 Conflicting classifications of pathogenicity Iron accumulation in brain
not specified
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA173231 rs_587784338

3 SubmittersRCV000147302RCV004700467RCV005089714

NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=) SNV
Germline
Chr22:38120776 Conflicting classifications of pathogenicity Iron accumulation in brain
PLA2G6-associated neurodegeneration
Condition: not provided
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA173226 rs_200599704

5 SubmittersRCV000147299RCV000303071RCV000952288RCV002055921

NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg) SNV
Germline
Chr22:38120867 Pathogenic/Likely pathogenic Iron accumulation in brain
Neurodegeneration with brain iron accumulation
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Criteria Provided
Multiple Submitters
No Conflicts
CA173221 rs_121908681

4 SubmittersRCV000147296RCV003330510RCV003507257RCV002514834

NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) SNV
Germline
Chr22:38120886 Conflicting classifications of pathogenicity Iron accumulation in brain
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Condition: not provided
Criteria Provided
Conflicting Classifications
CA173219 rs_143826762

8 SubmittersRCV000147295RCV000765649RCV000811515RCV001144627RCV001288670

NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) SNV
Germline
Chr22:38120888 Pathogenic/Likely pathogenic Iron accumulation in brain
Condition: not provided
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
PLA2G6-associated neurodegeneration
Criteria Provided
Multiple Submitters
No Conflicts
CA173217 rs_535486098

5 SubmittersRCV000147294RCV000412963RCV001849993RCV001823117RCV002514833

NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys) SNV
Germline
Chr22:38120889 Pathogenic/Likely pathogenic Iron accumulation in brain
Infantile neuroaxonal dystrophy
Condition: not provided
PLA2G6-associated neurodegeneration
Criteria Provided
Multiple Submitters
No Conflicts
CA173215 rs_370691849

4 SubmittersRCV000147293RCV002515977RCV004700466RCV002515976

NM_003560.4(PLA2G6):c.1591+11C>A SNV
Germline
Chr22:38123084 Conflicting classifications of pathogenicity Iron accumulation in brain
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA173213 rs_587784335

2 SubmittersRCV000147291RCV003507256

NM_003560.4(PLA2G6):c.1591+8C>T SNV
Germline
Chr22:38123087 Conflicting classifications of pathogenicity Iron accumulation in brain
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA173214 rs_200032947

2 SubmittersRCV000147292RCV002055920

NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln) SNV
Germline
Chr22:38123185 Conflicting classifications of pathogenicity Iron accumulation in brain
Infantile neuroaxonal dystrophy
not specified
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Conflicting Classifications
CA173208 rs_587784332

5 SubmittersRCV000147288RCV000679861RCV002469025RCV005025225

NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln) SNV
Germline
Chr22:38123244 Pathogenic/Likely pathogenic Iron accumulation in brain
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Criteria Provided
Multiple Submitters
No Conflicts
CA173204 rs_587784330

5 SubmittersRCV000147286RCV000995605RCV002051814RCV002514831

NM_003560.4(PLA2G6):c.1348+9C>T SNV
Germline
Chr22:38128260 Conflicting classifications of pathogenicity Iron accumulation in brain
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA173202 rs_587784328

2 SubmittersRCV000147284RCV003507255

NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg) SNV
Germline
Chr22:38129523 Pathogenic/Likely pathogenic Iron accumulation in brain
Infantile neuroaxonal dystrophy
Inborn genetic diseases
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Multiple Submitters
No Conflicts
CA173200 rs_587784327

5 SubmittersRCV000147283RCV000199765RCV001266410RCV005025224

NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu) SNV
Germline
Chr22:38132850 Conflicting classifications of pathogenicity Iron accumulation in brain
PLA2G6-associated neurodegeneration
Condition: not provided
Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA173194 rs_587784326

7 SubmittersRCV000147280RCV002515975RCV004546439RCV001364740RCV004796044RCV005237579RCV005452947

NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) SNV
Germline
Chr22:38132922 Conflicting classifications of pathogenicity Iron accumulation in brain
Infantile neuroaxonal dystrophy
Condition: not provided
PLA2G6-associated neurodegeneration
Criteria Provided
Conflicting Classifications
CA173301 rs_587784363

5 SubmittersRCV000147340RCV000995606RCV000997929RCV002514840

NM_003560.4(PLA2G6):c.786C>T (p.Phe262=) SNV
Germline
Chr22:38139993 Conflicting classifications of pathogenicity Iron accumulation in brain
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA173291 rs_546742857

2 SubmittersRCV000147335RCV002514839

NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr) SNV
Germline
Chr22:38140106 Pathogenic/Likely pathogenic Iron accumulation in brain
Condition: not provided
Infantile neuroaxonal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA173284 rs_587784359

3 SubmittersRCV000147331RCV000484666RCV001382688

NM_003560.4(PLA2G6):c.495G>C (p.Gly165=) SNV
Germline
Chr22:38143219 Conflicting classifications of pathogenicity Iron accumulation in brain
Infantile neuroaxonal dystrophy
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA173276 rs_150190277

6 SubmittersRCV000147327RCV000873528RCV001698973RCV001567737

NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) SNV
Germline
Chr22:38145477 Conflicting classifications of pathogenicity Iron accumulation in brain
Condition: not provided
Inborn genetic diseases
Neurodegeneration with brain iron accumulation
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Criteria Provided
Conflicting Classifications
CA173270 rs_374746113

10 SubmittersRCV000147324RCV000414098RCV000623680RCV004700468RCV001270755RCV002515981RCV005031653

NM_003560.4(PLA2G6):c.1942G>A (p.Gly648Arg) SNV
Germline
Chr22:38115619 Likely pathogenic Infantile neuroaxonal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA358493 rs_794729212

2 SubmittersRCV000990440RCV002259328

NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg) SNV
Germline
Chr22:38112165 Conflicting classifications of pathogenicity not specified
Condition: not provided
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Autosomal recessive Parkinson disease 14
Criteria Provided
Conflicting Classifications
CA206378 rs_140758033

9 SubmittersRCV000193114RCV000874967RCV001078629RCV001149228RCV002295288

NM_003560.4(PLA2G6):c.1349-2A>G SNV
Germline
Chr22:38126451 Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 2B
Condition: not provided
Infantile neuroaxonal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA277467 rs_797045888

3 SubmittersRCV000195256RCV001781569RCV003507265

NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr) SNV
Germline
Chr22:38133010 Conflicting classifications of pathogenicity Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA10231094 rs_528966598

6 SubmittersRCV000224530RCV000345705RCV000765650RCV002057229

NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) SNV
Germline
Chr22:38112559 Pathogenic/Likely pathogenic Condition: not provided
Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
PLA2G6-associated neurodegeneration
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Multiple Submitters
No Conflicts
CA10230570 rs_530348521

7 SubmittersRCV000255821RCV000853336RCV002494803RCV002521855RCV002282096RCV002470830

NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter) SNV
Germline
Chr22:38169219 Pathogenic Condition: not provided
Neurodegeneration with brain iron accumulation
Infantile neuroaxonal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA10588727 rs_886039552

3 SubmittersRCV000255422RCV004767205RCV001205763

NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) SNV
Germline
Chr22:38132831 Pathogenic/Likely pathogenic Condition: not provided
Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
PLA2G6-associated neurodegeneration
Criteria Provided
Multiple Submitters
No Conflicts
CA10603512 rs_368497893

5 SubmittersRCV000266508RCV001382039RCV002479994RCV002519034

NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr) SNV
Germline
Chr22:38145597 Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration
Condition: not provided
Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Criteria Provided
Conflicting Classifications
CA10231302 rs_142715413

5 SubmittersRCV000305035RCV000487773RCV001473715RCV005398468

NM_003560.4(PLA2G6):c.2259C>T (p.Val753=) SNV
Germline
Chr22:38112521 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10230564 rs_749966284

4 SubmittersRCV000392373RCV001094907RCV003437087RCV004021865

NM_003560.4(PLA2G6):c.441G>A (p.Ala147=) SNV
Germline
Chr22:38143273 Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA10231249 rs_371920697

2 SubmittersRCV000340020RCV002523228

NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) SNV
Germline
Chr22:38169326 Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration
Condition: not provided
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
not specified
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA10231376 rs_147948449

7 SubmittersRCV000362034RCV000512651RCV000765652RCV000518740RCV001303294

NM_003560.4(PLA2G6):c.773C>T (p.Ser258Leu) SNV
Germline
Chr22:38140006 Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration
Condition: not provided
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA10231164 rs_147924368

3 SubmittersRCV000310784RCV001584046RCV001244972

NM_003560.4(PLA2G6):c.1267G>A (p.Ala423Thr) SNV
Germline
Chr22:38128350 Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration
Condition: not provided
Infantile neuroaxonal dystrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10230961 rs_746217497

4 SubmittersRCV000372832RCV000584848RCV001861200RCV003168518

NM_003560.4(PLA2G6):c.895-11G>A SNV
Germline
Chr22:38133024 Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA10231096 rs_371094406

2 SubmittersRCV000399484RCV002524455

NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn) SNV
Germline
Chr22:38169336 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
Condition: not provided
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
PLA2G6-associated neurodegeneration
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10231378 rs_150024227

9 SubmittersRCV000260236RCV000762074RCV000765653RCV001094773RCV002523229

NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln) SNV
Germline
Chr22:38169218 Conflicting classifications of pathogenicity Condition: not provided
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Spastic ataxia
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Conflicting Classifications
CA10231350 rs_11570607

5 SubmittersRCV000416070RCV001865303RCV001144722RCV001643138RCV005398506

NM_003560.4(PLA2G6):c.1501G>A (p.Glu501Lys) SNV
Germline
Chr22:38123185 Conflicting classifications of pathogenicity Condition: not provided
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Criteria Provided
Conflicting Classifications
CA16609098 rs_587784332

3 SubmittersRCV000425006RCV005398519

NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) SNV
Germline
Chr22:38113560 Conflicting classifications of pathogenicity Abnormal brain morphology
Condition: not provided
Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
PLA2G6-associated neurodegeneration
Criteria Provided
Conflicting Classifications
CA10230599 rs_147455037

6 SubmittersRCV000454205RCV001550736RCV000804046RCV005027496RCV002526373

NM_003560.4(PLA2G6):c.1640A>G (p.Glu547Gly) SNV
Germline
Chr22:38120861 Likely pathogenic Abnormal brain morphology
Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Multiple Submitters
No Conflicts
CA16609546 rs_1060499764

3 SubmittersRCV000454298RCV001808827RCV005027497

NM_003560.4(PLA2G6):c.1424G>A (p.Arg475Gln) SNV
Germline
Chr22:38126374 Conflicting classifications of pathogenicity Condition: not provided
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA10230873 rs_139184008

4 SubmittersRCV000487504RCV000689908

NM_003560.4(PLA2G6):c.416G>A (p.Arg139His) SNV
Germline
Chr22:38145447 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Condition: not provided
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
not specified
PLA2G6-related disorder
Criteria Provided
Conflicting Classifications
CA10231275 rs_141825182

8 SubmittersRCV001083799RCV001150840RCV000585504RCV000765651RCV004999527RCV003925420

NM_003560.4(PLA2G6):c.3G>T (p.Met1Ile) SNV
Not applicable
Chr22:38169424 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411521181 rs_764959600

1 SubmittersRCV000578770

NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn) SNV
Germline
Chr22:38123180 Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
not specified
Condition: not provided
PLA2G6-associated neurodegeneration
Criteria Provided
Conflicting Classifications
CA411527942 rs_1555988382

6 SubmittersRCV000502668RCV001329713RCV003403171RCV003441899RCV005411461

NM_003560.4(PLA2G6):c.1743-1G>C SNV
Unknown
Chr22:38116212 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411525852 rs_1555979401

1 SubmittersRCV000502251

NM_003560.4(PLA2G6):c.1427+1G>A SNV
Germline
Chr22:38126370 Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Condition: not provided
PLA2G6-associated neurodegeneration
Criteria Provided
Multiple Submitters
No Conflicts
CA10230870 rs_750939090

6 SubmittersRCV000500147RCV000763483RCV001783002RCV002527311

NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val) SNV
Germline
Chr22:38126390 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10230879 rs_201801144

10 SubmittersRCV000634964RCV000513108RCV002524964

NM_003560.4(PLA2G6):c.1428-5T>G SNV
Germline
Chr22:38123263 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
not specified
Criteria Provided
Conflicting Classifications
CA658656836 rs_1555988730

2 SubmittersRCV000557056RCV002248765

NM_003560.4(PLA2G6):c.396C>T (p.Arg132=) SNV
Germline
Chr22:38145467 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10231284 rs_146252218

4 SubmittersRCV000546120RCV001150841RCV001310808

NM_003560.4(PLA2G6):c.1187-5A>G SNV
Germline
Chr22:38128435 Conflicting classifications of pathogenicity Condition: not provided
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA658684275 rs_1175689296

2 SubmittersRCV000585173RCV002065125

NM_003560.4(PLA2G6):c.2277-2A>C SNV
Germline
Chr22:38112307 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10230544 rs_552606315

3 SubmittersRCV000815114RCV002532704RCV000599329

NM_003560.4(PLA2G6):c.834G>C (p.Gln278His) SNV
Germline
Chr22:38135048 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
not specified
Criteria Provided
Conflicting Classifications
CA411531125 rs_1556010444

2 SubmittersRCV000625817RCV004800498

NM_003560.4(PLA2G6):c.217C>T (p.Gln73Ter) SNV
Germline
Chr22:38145646 Pathogenic/Likely pathogenic Condition: not provided
Infantile neuroaxonal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA411532515 rs_1556032708

2 SubmittersRCV000627321RCV003507307

NM_003560.4(PLA2G6):c.1797C>G (p.Phe599Leu) SNV
Germline
Chr22:38116157 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy Criteria Provided
Conflicting Classifications
CA411525687 rs_1555979298

2 SubmittersRCV000634963

NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp) SNV
Germline
Chr22:38123251 Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy
Condition: not provided
Neurodegeneration with brain iron accumulation
Criteria Provided
Multiple Submitters
No Conflicts
CA411528216 rs_1235695530

4 SubmittersRCV000634962RCV004588062RCV005431830

NM_003560.4(PLA2G6):c.1592-2A>C SNV
Germline
Chr22:38120911 Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Inborn genetic diseases
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Criteria Provided
Multiple Submitters
No Conflicts
CA411527755 rs_1465629909

5 SubmittersRCV000680069RCV002531410RCV004026159RCV005027834

NM_003560.4(PLA2G6):c.1039G>A (p.Gly347Arg) SNV
Germline
Chr22:38132869 Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy
Condition: not provided
Neurodegeneration with brain iron accumulation
Criteria Provided
Multiple Submitters
No Conflicts
CA411530689 rs_1569263730

4 SubmittersRCV000680067RCV005253064RCV003235345

NM_003560.4(PLA2G6):c.1268C>T (p.Ala423Val) SNV
Germline
Chr22:38128349 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10230960 rs_199636953

4 SubmittersRCV000701652RCV001836867RCV002536345

NM_003560.4(PLA2G6):c.325C>G (p.His109Asp) SNV
Germline
Chr22:38145538 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Conflicting Classifications
CA10231294 rs_142530390

5 SubmittersRCV001085110RCV000712686RCV001150842RCV002245623

NM_003560.4(PLA2G6):c.962T>C (p.Leu321Pro) SNV
Germline
Chr22:38132946 Likely pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411530840 rs_1569264087

1 SubmittersRCV000784958

NM_003560.4(PLA2G6):c.1186+1G>A SNV
Germline
Chr22:38129453 Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy
Condition: not provided
PLA2G6-associated neurodegeneration
Criteria Provided
Multiple Submitters
No Conflicts
CA324194884 rs_761815070

5 SubmittersRCV000785898RCV001310807RCV002535731

NM_003560.4(PLA2G6):c.2035-2A>G SNV
Germline
Chr22:38113656 Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Multiple Submitters
No Conflicts
CA411524162 rs_1602057157

2 SubmittersRCV000853335

NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=) SNV
Germline
Chr22:38115578 Conflicting classifications of pathogenicity Condition: not provided
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Criteria Provided
Conflicting Classifications
CA10230662 rs_150572286

3 SubmittersRCV000876770RCV002064865RCV001150737

NM_003560.4(PLA2G6):c.966C>T (p.His322=) SNV
Germline
Chr22:38132942 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA10231082 rs_144033740

5 SubmittersRCV000872364RCV001147486RCV001550210RCV001664511

NM_003560.4(PLA2G6):c.2277-6G>A SNV
Germline
Chr22:38112311 Conflicting classifications of pathogenicity Condition: not provided
Infantile neuroaxonal dystrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10230547 rs_370528124

3 SubmittersRCV000871949RCV002064687RCV005453118

NM_003560.4(PLA2G6):c.895-5C>T SNV
Germline
Chr22:38133018 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
Condition: not provided
PLA2G6-associated neurodegeneration
Criteria Provided
Conflicting Classifications
CA10231095 rs_372128546

3 SubmittersRCV000872713RCV001796291RCV001147488

NM_003560.4(PLA2G6):c.510G>A (p.Glu170=) SNV
Germline
Chr22:38143204 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Criteria Provided
Conflicting Classifications
CA10231239 rs_751696120

2 SubmittersRCV000911443RCV005392541

NM_003560.4(PLA2G6):c.1428-8C>T SNV
Germline
Chr22:38123266 Conflicting classifications of pathogenicity Condition: not provided
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA10230824 rs_370288820

3 SubmittersRCV000951955RCV001078763

NM_003560.4(PLA2G6):c.2350G>A (p.Glu784Lys) SNV
Unknown
Chr22:38112232 Likely pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411523112 rs_1602051017

1 SubmittersRCV000990438

NM_003560.4(PLA2G6):c.2276+1G>A SNV
Germline
Chr22:38112503 Pathogenic Infantile neuroaxonal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA411523278 rs_1397030516

2 SubmittersRCV000990439RCV002462247

NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) SNV
Germline
Chr22:38116176 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
Inborn genetic diseases
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
PLA2G6-associated neurodegeneration
Criteria Provided
Conflicting Classifications
CA411525730 rs_1451486649

5 SubmittersRCV000990441RCV004030118RCV005029547RCV002549744

NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln) SNV
Germline
Chr22:38116182 Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy
Condition: not provided
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation
Criteria Provided
Multiple Submitters
No Conflicts
CA10230719 rs_776713955

7 SubmittersRCV000990442RCV001092012RCV005036260RCV004689945

NM_003560.4(PLA2G6):c.1624T>G (p.Phe542Val) SNV
Unknown
Chr22:38120877 Likely pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411527598 rs_1602088419

1 SubmittersRCV000990443

NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) SNV
Germline
Chr22:38123191 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
PLA2G6-related disorder
Neurodegeneration with brain iron accumulation
Condition: not provided
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Criteria Provided
Conflicting Classifications
CA10230816 rs_141045127

7 SubmittersRCV000990444RCV002550617RCV003411932RCV004702560RCV004822278RCV005029548

NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter) SNV
Unknown
Chr22:38169263 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411520847 rs_1177564212

1 SubmittersRCV000990445

NM_003560.4(PLA2G6):c.1612C>A (p.Arg538Ser) SNV
Germline
Chr22:38120889 Conflicting classifications of pathogenicity Condition: not provided
not specified
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Criteria Provided
Conflicting Classifications
CA411527652 rs_370691849

3 SubmittersRCV000997927RCV004689949RCV005029557

NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) SNV
Germline
Chr22:38140022 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
not specified
Criteria Provided
Conflicting Classifications
CA10231169 rs_745643715

4 SubmittersRCV000995607RCV002550682RCV004702563

NM_003560.4(PLA2G6):c.1880-1G>C SNV
Germline
Chr22:38115682 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411524893 rs_1025497590

1 SubmittersRCV001004413

NM_003560.4(PLA2G6):c.1187-1G>A SNV
Germline
Chr22:38128431 Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Criteria Provided
Multiple Submitters
No Conflicts
CA411530347 rs_1477656610

2 SubmittersRCV001004414RCV002549242

NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile) SNV
Germline
Chr22:38126371 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
Condition: not provided
PLA2G6-associated neurodegeneration
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10230871 rs_146684391

6 SubmittersRCV001046693RCV002260678RCV001144630RCV002481926RCV002553151

NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro) SNV
Germline
Chr22:38132847 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
not specified
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Conflicting Classifications
CA411530640 rs_1403125636

4 SubmittersRCV001050248RCV001542713RCV003317423RCV004768815

NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) SNV
Germline
Chr22:38132952 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Condition: not provided
Autosomal recessive Parkinson disease 14
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Conflicting Classifications
CA10231083 rs_149653983

9 SubmittersRCV001050461RCV001147487RCV001585947RCV001542714RCV005418966RCV004768816RCV005036337

NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys) SNV
Germline
Chr22:38120874 Pathogenic/Likely pathogenic Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA10230787 rs_753874848

3 SubmittersRCV001092013RCV002557959RCV003507352

NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=) SNV
Germline
Chr22:38115533 Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA514543752 rs_561645994

2 SubmittersRCV001150736RCV003507354

NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=) SNV
Germline
Chr22:38120887 Conflicting classifications of pathogenicity Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA10230790 rs_373930150

3 SubmittersRCV001171726RCV001144628RCV002070743

NM_003560.4(PLA2G6):c.155A>G (p.Asn52Ser) SNV
Germline
Chr22:38169272 Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10231364 rs_772131195

3 SubmittersRCV001144723RCV002032366RCV005453178

NM_003560.4(PLA2G6):c.1348+10G>A SNV
Germline
Chr22:38128259 Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA10230946 rs_761202760

2 SubmittersRCV001144631RCV002557088

NM_003560.4(PLA2G6):c.610-1G>T SNV
Germline
Chr22:38140170 Pathogenic/Likely pathogenic PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Criteria Provided
Multiple Submitters
No Conflicts
CA411531642 rs_1223788672

3 SubmittersRCV001195284RCV005094042RCV005029740

NM_003560.4(PLA2G6):c.1111G>A (p.Val371Met) SNV
Germline
Chr22:38129529 Likely pathogenic Inborn genetic diseases
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Criteria Provided
Multiple Submitters
No Conflicts
CA10231018 rs_765156550

4 SubmittersRCV001266643RCV001644963RCV002537691

NM_003560.4(PLA2G6):c.1021G>A (p.Ala341Thr) SNV
Germline
Chr22:38132887 Conflicting classifications of pathogenicity Condition: not provided
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
PLA2G6-associated neurodegeneration
Criteria Provided
Conflicting Classifications
CA411530724 rs_769000561

3 SubmittersRCV001268304RCV002245911RCV002537707

NM_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter) SNV
Germline
Chr22:38112233 Pathogenic/Likely pathogenic Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA10230533 rs_775386225

3 SubmittersRCV001310803RCV002543562RCV002545037

NM_003560.4(PLA2G6):c.2251G>T (p.Glu751Ter) SNV
Germline
Chr22:38112529 Pathogenic Condition: not provided
Infantile neuroaxonal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA411523339 rs_1296348337

2 SubmittersRCV001310804RCV003507372

NM_003560.4(PLA2G6):c.1703T>C (p.Phe568Ser) SNV
Germline
Chr22:38120798 Likely pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411527240 rs_2145710946

1 SubmittersRCV001647170

NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter) SNV
Germline
Chr22:38115628 Pathogenic Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Criteria Provided
Multiple Submitters
No Conflicts
CA411524782 rs_1484455290

5 SubmittersRCV001329715RCV003507373RCV004796605

NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) SNV
Germline
Chr22:38115663 Conflicting classifications of pathogenicity Condition: not provided
Abnormality of the nervous system
not specified
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA324183528 rs_201657455

6 SubmittersRCV001546189RCV001814517RCV003317507RCV002568243RCV003507375

NM_003560.4(PLA2G6):c.1893G>A (p.Trp631Ter) SNV
Germline
Chr22:38115668 Pathogenic/Likely pathogenic Abnormality of the nervous system
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Multiple Submitters
No Conflicts
CA411524861 rs_2145683127

2 SubmittersRCV001814543RCV005023187

NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp) SNV
Germline
Chr22:38116156 Pathogenic/Likely pathogenic Condition: not provided
Neurodegeneration with brain iron accumulation
PLA2G6-associated neurodegeneration
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA10230715 rs_368008077

5 SubmittersRCV001561435RCV002266002RCV002569014RCV005038262RCV003507377

NM_003560.4(PLA2G6):c.1835G>T (p.Arg612Leu) SNV
Germline
Chr22:38116119 Conflicting classifications of pathogenicity Condition: not provided
Infantile neuroaxonal dystrophy
not specified
Criteria Provided
Conflicting Classifications
CA10230706 rs_200117092

4 SubmittersRCV001588132RCV002072337RCV002282568

NM_003560.4(PLA2G6):c.848A>G (p.Asp283Gly) SNV
Germline
Chr22:38135034 Conflicting classifications of pathogenicity Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA10231127 rs_746405809

3 SubmittersRCV001590106RCV002579477RCV001866213

NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp) SNV
Germline
Chr22:38116183 Pathogenic/Likely pathogenic Condition: not provided
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Criteria Provided
Multiple Submitters
No Conflicts
CA324184037 rs_1043378899

3 SubmittersRCV001727224RCV002032692RCV002539768

NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser) SNV
Germline
Chr22:38115604 Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA10230668 rs_754204295

4 SubmittersRCV002543909RCV003507383RCV005432779RCV002243455

NM_003560.4(PLA2G6):c.1974C>A (p.Asn658Lys) SNV
Germline
Chr22:38115587 Conflicting classifications of pathogenicity Condition: not provided
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Criteria Provided
Conflicting Classifications
CA324183423 rs_1048444597

4 SubmittersRCV001762931RCV002538756RCV002538757

NM_003560.4(PLA2G6):c.2234G>A (p.Arg745Gln) SNV
Germline
Chr22:38112546 Conflicting classifications of pathogenicity Condition: not provided
Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Criteria Provided
Conflicting Classifications
CA10230569 rs_368514303

3 SubmittersRCV001771162RCV001868610RCV002489804

NM_003560.4(PLA2G6):c.1912G>A (p.Gly638Arg) SNV
Germline
Chr22:38115649 Likely pathogenic PLA2G6-associated neurodegeneration
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA324183492 rs_1000303487

3 SubmittersRCV002541208RCV005038323RCV001782646

NM_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr) SNV
Germline
Chr22:38112531 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Criteria Provided
Conflicting Classifications
CA10230567 rs_751225193

2 SubmittersRCV001823609RCV002542738

NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val) SNV
Germline
Chr22:38140099 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Neurodegeneration with brain iron accumulation
Criteria Provided
Conflicting Classifications
CA10231190 rs_764957976

3 SubmittersRCV002016608RCV002545570RCV003402056

NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr) SNV
Germline
Chr22:38112241 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Criteria Provided
Conflicting Classifications
CA10230535 rs_139093920

3 SubmittersRCV001958907RCV002569151RCV005032024

NM_003560.4(PLA2G6):c.238G>T (p.Ala80Ser) SNV
Germline
Chr22:38145625 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
not specified
Criteria Provided
Conflicting Classifications
CA324214071 rs_121908685

2 SubmittersRCV001971278RCV004690207

NM_003560.4(PLA2G6):c.1849G>A (p.Val617Ile) SNV
Germline
Chr22:38116105 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
Condition: not provided
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10230702 rs_139579057

5 SubmittersRCV002032930RCV002265035RCV002482409RCV002545323

NM_003560.4(PLA2G6):c.353C>T (p.Pro118Leu) SNV
Germline
Chr22:38145510 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA10231287 rs_765125582

4 SubmittersRCV002026398RCV004793704RCV004587291

NM_003560.4(PLA2G6):c.209+2T>G SNV
Germline
Chr22:38169216 Likely pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA10231349 rs_760904035

1 SubmittersRCV002019802

NM_003560.4(PLA2G6):c.1328C>T (p.Pro443Leu) SNV
Germline
Chr22:38128289 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10230951 rs_375740918

2 SubmittersRCV002098072RCV003481260

NM_003560.4(PLA2G6):c.1085A>T (p.Asn362Ile) SNV
Germline
Chr22:38129555 Likely pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411530572 rs_2145753835

1 SubmittersRCV002249135

NM_003560.4(PLA2G6):c.2032A>G (p.Lys678Glu) SNV
Germline
Chr22:38115529 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy Criteria Provided
Conflicting Classifications
CA411524579 rs_2087135251

2 SubmittersRCV002250242

NM_003560.4(PLA2G6):c.1969G>A (p.Ala657Thr) SNV
Germline
Chr22:38115592 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411524715 rs_1318351016

1 SubmittersRCV002250243

NM_003560.4(PLA2G6):c.1069G>A (p.Ala357Thr) SNV
Germline
Chr22:38132839 Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Multiple Submitters
No Conflicts
CA411530626 rs_2145770192

2 SubmittersRCV002250245RCV004594627

NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu) SNV
Germline
Chr22:38140111 Conflicting classifications of pathogenicity Condition: not provided
PLA2G6-associated neurodegeneration
Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA10231192 rs_776753796

5 SubmittersRCV002275547RCV003096214RCV003339949RCV003403769RCV003096213

NM_003560.4(PLA2G6):c.710G>A (p.Arg237His) SNV
Germline
Chr22:38140069 Conflicting classifications of pathogenicity Condition: not provided
Infantile neuroaxonal dystrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10231186 rs_147066967

4 SubmittersRCV002288218RCV003097757RCV003097758

NM_003560.4(PLA2G6):c.2035-926G>A SNV
Germline
Chr22:38114580 Conflicting classifications of pathogenicity Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA324182458 rs_930495767

4 SubmittersRCV002293068RCV003408219RCV003164492

NM_003560.4(PLA2G6):c.1511C>T (p.Ser504Leu) SNV
Germline
Chr22:38123175 Conflicting classifications of pathogenicity not specified
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA411527930 rs_2087622708

2 SubmittersRCV002302500RCV003098023

NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys) SNV
Germline
Chr22:38112529 Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration
Neurodegeneration with brain iron accumulation
Infantile neuroaxonal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA411523338 rs_1296348337

4 SubmittersRCV003041414RCV003324065RCV003050582RCV003223766

NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val) SNV
Germline
Chr22:38123139 Conflicting classifications of pathogenicity not specified
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Criteria Provided
Conflicting Classifications
CA10230813 rs_151108668

3 SubmittersRCV003226564RCV003064658RCV003064657

NM_003560.4(PLA2G6):c.1974C>G (p.Asn658Lys) SNV
Germline
Chr22:38115587 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411524705 rs_1048444597

1 SubmittersRCV003088506

NM_003560.4(PLA2G6):c.1670C>T (p.Ser557Leu) SNV
Germline
Chr22:38120831 Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Criteria Provided
Multiple Submitters
No Conflicts
CA10230778 rs_769047790

2 SubmittersRCV002651165RCV002651164

NM_003560.4(PLA2G6):c.1630A>T (p.Met544Leu) SNV
Germline
Chr22:38120871 Likely pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411527571 rs_2517951819

1 SubmittersRCV002835019

NM_003560.4(PLA2G6):c.1630A>G (p.Met544Val) SNV
Germline
Chr22:38120871 Likely pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411527574 rs_2517951819

1 SubmittersRCV003050324

NM_003560.4(PLA2G6):c.1097T>A (p.Ile366Asn) SNV
Germline
Chr22:38129543 Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA10231022 rs_778225931

2 SubmittersRCV002789942RCV004765748

NM_003560.4(PLA2G6):c.1A>G (p.Met1Val) SNV
Germline
Chr22:38169426 Pathogenic PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA411521186 rs_1167198937

2 SubmittersRCV002789947RCV003507474

NM_003560.4(PLA2G6):c.1743-2A>G SNV
Germline
Chr22:38116213 Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation
Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Multiple Submitters
No Conflicts
CA411525858 rs_2087184707

3 SubmittersRCV003226742RCV003507490RCV005036703

NM_003560.4(PLA2G6):c.967G>A (p.Val323Met) SNV
Germline
Chr22:38132941 Conflicting classifications of pathogenicity Condition: not provided
Infantile neuroaxonal dystrophy
Criteria Provided
Conflicting Classifications
CA411530829 rs_1456513786

3 SubmittersRCV003332447RCV003444385

NM_003560.4(PLA2G6):c.1186+1G>T SNV
Germline
Chr22:38129453 Pathogenic/Likely pathogenic Condition: not provided
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA411530356 rs_761815070

3 SubmittersRCV003332481RCV005029988RCV003777400

NM_003560.4(PLA2G6):c.2276+1G>C SNV
Germline
Chr22:38112503 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411523277 rs_1397030516

1 SubmittersRCV003508154

NM_003560.4(PLA2G6):c.1982C>T (p.Thr661Met) SNV
Germline
Chr22:38115579 Pathogenic Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Criteria Provided
Multiple Submitters
No Conflicts
CA10230663 rs_767689496

3 SubmittersRCV003508541RCV005036867

NM_003560.4(PLA2G6):c.2144G>A (p.Trp715Ter) SNV
Germline
Chr22:38113545 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411523738 rs_2087008432

1 SubmittersRCV003508936

NM_003560.4(PLA2G6):c.2035-1G>A SNV
Germline
Chr22:38113655 Likely pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411524160 rs_2517918137

1 SubmittersRCV003507040

NM_003560.4(PLA2G6):c.1882C>T (p.Gln628Ter) SNV
Germline
Chr22:38115679 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411524884 rs_2087146072

1 SubmittersRCV003506939

NM_003560.4(PLA2G6):c.1501G>T (p.Glu501Ter) SNV
Germline
Chr22:38123185 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411527954 rs_587784332

1 SubmittersRCV003507838

NM_003560.4(PLA2G6):c.798-1G>T SNV
Germline
Chr22:38135085 Likely pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411531213 rs_2518020318

1 SubmittersRCV003616014

NM_003560.4(PLA2G6):c.1666G>T (p.Glu556Ter) SNV
Germline
Chr22:38120835 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA10230780 rs_777259654

1 SubmittersRCV003616906

NM_003560.4(PLA2G6):c.1117G>C (p.Gly373Arg) SNV
Germline
Chr22:38129523 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411530505 rs_587784327

1 SubmittersRCV003616926

NM_003560.4(PLA2G6):c.1078-1G>A SNV
Germline
Chr22:38129563 Likely pathogenic Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
Criteria Provided
Multiple Submitters
No Conflicts
CA411530596 rs_2088081974

2 SubmittersRCV003617282RCV005030236

NM_003560.4(PLA2G6):c.1592-1G>C SNV
Germline
Chr22:38120910 Likely pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411527751 rs_2517952110

1 SubmittersRCV003821612

NM_003560.4(PLA2G6):c.552C>G (p.Tyr184Ter) SNV
Germline
Chr22:38143162 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter
CA411531780 rs_2518056118

1 SubmittersRCV003852783

NM_003560.4(PLA2G6):c.1772G>T (p.Arg591Leu) SNV
Germline
Chr22:38116182 Conflicting classifications of pathogenicity not specified
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Criteria Provided
Conflicting Classifications
CA411525741 rs_776713955

2 SubmittersRCV004527204RCV005038703

NM_003560.4(PLA2G6):c.2218G>A (p.Gly740Arg) SNV
Germline
Chr22:38112562 Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy Criteria Provided
Conflicting Classifications

2 SubmittersRCV004764455

NM_003560.4(PLA2G6):c.2266C>T (p.Gln756Ter) SNV
Germline
Chr22:38112514 Likely pathogenic Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Single Submitter

1 SubmittersRCV005029389

NM_003560.4(PLA2G6):c.985C>T (p.Arg329Cys) SNV
Germline
Chr22:38132923 Likely pathogenic Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Single Submitter

1 SubmittersRCV005032845

NM_003560.4(PLA2G6):c.210-1G>A SNV
Germline
Chr22:38145654 Likely pathogenic Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Criteria Provided
Single Submitter

1 SubmittersRCV005032847

NM_003560.4(PLA2G6):c.1039G>C (p.Gly347Arg) SNV
Germline
Chr22:38132869 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV005078450

NM_003560.4(PLA2G6):c.76G>T (p.Glu26Ter) SNV
Germline
Chr22:38169351 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV005118145

NM_003560.4(PLA2G6):c.1665C>A (p.Tyr555Ter) SNV
Germline
Chr22:38120836 Pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV005166042

NM_003560.4(PLA2G6):c.1748T>C (p.Met583Thr) SNV
Germline
Chr22:38116206 Likely pathogenic Infantile neuroaxonal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV005233258

NM_003560.4(PLA2G6):c.1427+1G>T SNV
Germline
Chr22:38126370 Pathogenic Infantile neuroaxonal dystrophy No Assertion Criteria Provided

1 SubmittersRCV005412153