Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)	SNV Germline	Chr1:16996008	Pathogenic/Likely pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome See cases Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA251716	rs_121918227	5 SubmittersRCV000001280 RCV001851533 RCV002251851 RCV004766975
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	SNV Germline	Chr22:38112212	Pathogenic/Likely pathogenic	Infantile neuroaxonal dystrophy Iron accumulation in brain Condition: not provided Inborn genetic diseases Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 PLA2G6-associated neurodegeneration Seizure Autism Neurodegeneration with brain iron accumulation 2B Abnormality of the nervous system Neurodegeneration with brain iron accumulation PLA2G6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA173265	rs_121908680	23 SubmittersRCV000006572 RCV000147321 RCV000323935 RCV000623021 RCV000763481 RCV000778661 RCV001250474 RCV001333134 RCV001813959 RCV002265549 RCV003407288
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)	SNV Germline	Chr22:38120867	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 2B Congenital cerebellar hypoplasia Global developmental delay Microcephaly Developmental regression Cerebellar ataxia Autosomal recessive Parkinson disease 14 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253793	rs_121908681	4 SubmittersRCV000006573 RCV001003639 RCV001542712 RCV003319301
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)	SNV Germline	Chr22:38115667	Pathogenic/Likely pathogenic	Karak syndrome Condition: not provided Neurodegeneration with brain iron accumulation PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA118062	rs_121908683	6 SubmittersRCV000006576 RCV001092011 RCV001582469 RCV002512836 RCV003507245
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 Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Condition: not provided PLA2G6-associated neurodegeneration	Criteria Provided Multiple Submitters No Conflicts	CA253795	rs_121908685	6 SubmittersRCV000006580 RCV000660638 RCV000535771 RCV001540404 RCV002512839
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 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA253797	rs_121908686	13 SubmittersRCV000006581 RCV000811054 RCV001251187 RCV001588801 RCV002496284 RCV003155018
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)	SNV Germline	Chr22:38112541	Pathogenic/Likely pathogenic	Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 Condition: not provided PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA253798	rs_121908687	8 SubmittersRCV000006582 RCV000763482 RCV001268312 RCV002512840 RCV003507246
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)	SNV Germline	Chr22:38115657	Conflicting classifications of pathogenicity	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 Conflicting Classifications	CA259782	rs_387906863	6 SubmittersRCV000023314 RCV000779372 RCV002273936 RCV002477008 RCV002513186
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	Criteria Provided Multiple Submitters No Conflicts	CA173198	rs_200075782	9 SubmittersRCV000023318 RCV000147282 RCV000255026 RCV002513187 RCV003105777
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)	SNV Germline	Chr16:74727290	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 35 Condition: not provided Spastic paraplegia Neurodegeneration with brain iron accumulation	Criteria Provided Conflicting Classifications	CA259930	rs_387907040	6 SubmittersRCV000023857 RCV000483483 RCV002513207 RCV003317044
NM_031448.6(C19orf12):c.-2C>T	SNV Germline	Chr19:29708415	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 4 Condition: not provided Abnormality of iron homeostasis Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA342784	rs_397514477	11 SubmittersRCV000024152 RCV000426086 RCV001004003 RCV003743545 RCV004700277
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)	SNV Germline	Chr19:29702966	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 4 Dystonic disorder Tremor Mental deterioration Adult-onset night blindness Peripheral visual field loss Hereditary spastic paraplegia 43 Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA345637	rs_515726205	9 SubmittersRCV000024153 RCV000414809 RCV000528859 RCV001781312 RCV003230372
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)	SNV Germline	Chr19:29702747	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 4 Dystonic disorder Tremor Mental deterioration Adult-onset night blindness Peripheral visual field loss Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia 5A Condition: not provided not specified Hereditary spastic paraplegia Hereditary spastic paraplegia 43	Criteria Provided Conflicting Classifications	CA259994	rs_146170087	15 SubmittersRCV000024154 RCV000415210 RCV000509226 RCV000714889 RCV000553096 RCV001844017 RCV001847623 RCV001083182
NM_031448.6(C19orf12):c.362T>A (p.Leu121Gln)	SNV Germline	Chr19:29702776	Pathogenic	Neurodegeneration with brain iron accumulation 4	No Assertion Criteria Provided	CA260038	rs_387907173	1 SubmittersRCV000024323
NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter)	SNV Germline	ChrX:49075573	Pathogenic	Neurodegeneration with brain iron accumulation 5 6 conditions Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA214837	rs_387907329	11 SubmittersRCV000034829 RCV000415276 RCV000254714 RCV000623979
NM_001029896.2(WDR45):c.516G>C (p.Val172=)	SNV Germline	ChrX:49075866	Pathogenic	Neurodegeneration with brain iron accumulation 5	No Assertion Criteria Provided	CA214839	rs_387907330	1 SubmittersRCV000034830
NM_001029896.2(WDR45):c.634C>T (p.Gln212Ter)	SNV Germline	ChrX:49075636	Pathogenic	Neurodegeneration with brain iron accumulation 5	No Assertion Criteria Provided	CA214842	rs_387907332	1 SubmittersRCV000034832
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro)	SNV Germline	Chr19:29708260	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia 43 Condition: not provided	Criteria Provided Conflicting Classifications	CA145387	rs_376103979	6 SubmittersRCV000074454 RCV000074453 RCV000493663
NM_025233.7(COASY):c.1495C>T (p.Arg499Cys)	SNV Germline	Chr17:42565668	Pathogenic	Neurodegeneration with brain iron accumulation 6 Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA150599	rs_140709867	7 SubmittersRCV000087062 RCV001588921 RCV002298471
NM_025233.7(COASY):c.175C>T (p.Gln59Ter)	SNV Germline	Chr17:42562797	Pathogenic	Neurodegeneration with brain iron accumulation 6	No Assertion Criteria Provided	CA150601	rs_587777136	1 SubmittersRCV000087063
NM_000096.4(CP):c.656T>A (p.Val219Glu)	SNV Germline	Chr3:149209336	Conflicting classifications of pathogenicity	Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Conflicting Classifications	CA231060	rs_587780321	2 SubmittersRCV000116824 RCV004586553
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 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Multiple Submitters No Conflicts	CA173258	rs_587784350	4 SubmittersRCV000147317 RCV000985141 RCV003507259 RCV003883135
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 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 Neurodegeneration with brain iron accumulation Infantile osteopetrosis with neuroaxonal dysplasia PLA2G6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA173233	rs_149712244	13 SubmittersRCV000147303 RCV000413569 RCV000578256 RCV000624119 RCV001849994 RCV002514837 RCV002505129 RCV003226213 RCV003338422 RCV003927441
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg)	SNV Germline	Chr22:38120867	Pathogenic/Likely pathogenic	Iron accumulation in brain PLA2G6-associated neurodegeneration Neurodegeneration with brain iron accumulation Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA173221	rs_121908681	4 SubmittersRCV000147296 RCV002514834 RCV003330510 RCV003507257
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)	SNV Germline	Chr22:38120886	Conflicting classifications of pathogenicity	Iron accumulation in brain Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Condition: not provided	Criteria Provided Conflicting Classifications	CA173219	rs_143826762	8 SubmittersRCV000147295 RCV000765649 RCV000811515 RCV001144627 RCV001288670
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His)	SNV Germline	Chr22:38120888	Pathogenic/Likely pathogenic	Iron accumulation in brain Condition: not provided PLA2G6-associated neurodegeneration Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA173217	rs_535486098	5 SubmittersRCV000147294 RCV000412963 RCV002514833 RCV001823117 RCV001849993
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 SubmittersRCV000147286 RCV000995605 RCV002051814 RCV002514831
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu)	SNV Germline	Chr22:38132850	Conflicting classifications of pathogenicity	Iron accumulation in brain Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Condition: not provided Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Conflicting Classifications	CA173194	rs_587784326	5 SubmittersRCV000147280 RCV001364740 RCV002515975 RCV004546439 RCV004796044
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)	SNV Germline	Chr22:38145477	Conflicting classifications of pathogenicity	Iron accumulation in brain Inborn genetic diseases Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Conflicting Classifications	CA173270	rs_374746113	8 SubmittersRCV000147324 RCV000623680 RCV001270755 RCV002515981 RCV000414098 RCV004700468
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)	SNV Germline	Chr19:29708290	Conflicting classifications of pathogenicity	Neurodegeneration Brain iron accummulation Condition: not provided Hereditary spastic paraplegia Neurodegeneration with brain iron accumulation Hereditary spastic paraplegia 43	Criteria Provided Conflicting Classifications	CA186055	rs_200133991	6 SubmittersRCV000162119 RCV000292174 RCV000516097 RCV003479030 RCV001231447
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 SubmittersRCV000195256 RCV001781569 RCV003507265
NM_001029896.2(WDR45):c.1030A>G (p.Asn344Asp)	SNV Germline	ChrX:49074856	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter	CA209672	rs_797046100	1 SubmittersRCV000195088
NM_001029896.2(WDR45):c.516+1G>T	SNV Germline	ChrX:49075865	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter	CA208131	rs_797046102	1 SubmittersRCV000194153
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)	SNV Germline	ChrX:49076469	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 5 Condition: not provided X-linked cerebral-cerebellar-coloboma syndrome syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA206368	rs_797046101	11 SubmittersRCV000477948 RCV000413483 RCV000679876 RCV004965322
NM_001029896.2(WDR45):c.973+1G>A	SNV Germline	ChrX:49075135	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts	CA353447	rs_869312661	2 SubmittersRCV000209935
NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu)	SNV Germline	Chr19:29702923	Likely pathogenic	Neurodegeneration with brain iron accumulation 4	Criteria Provided Multiple Submitters No Conflicts	CA9351912	rs_201987973	3 SubmittersRCV000211114
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr)	SNV Germline	Chr22:38133010	Conflicting classifications of pathogenicity	Condition: not provided PLA2G6-associated neurodegeneration Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10231094	rs_528966598	6 SubmittersRCV000224530 RCV000345705 RCV000765650 RCV002057229
NM_001029896.2(WDR45):c.611G>A (p.Gly204Asp)	SNV Germline	ChrX:49075659	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter	CA10583989	rs_878855326	1 SubmittersRCV000234791
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)	SNV Germline	Chr22:38112559	Pathogenic/Likely pathogenic	Condition: not provided Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 PLA2G6-associated neurodegeneration	Criteria Provided Multiple Submitters No Conflicts	CA10230570	rs_530348521	7 SubmittersRCV000255821 RCV000853336 RCV002282096 RCV002470830 RCV002494803 RCV002521855
NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter)	SNV Germline	Chr22:38169219	Pathogenic	Condition: not provided Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA10588727	rs_886039552	3 SubmittersRCV000255422 RCV001205763 RCV004767205
NM_001029896.2(WDR45):c.827+1G>A	SNV Germline	ChrX:49075363	Pathogenic	Condition: not provided Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts	CA10588789	rs_1557083958	11 SubmittersRCV000255829 RCV000845069 RCV000578469
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)	SNV Germline	Chr22:38132831	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	Criteria Provided Multiple Submitters No Conflicts	CA10603512	rs_368497893	5 SubmittersRCV000266508 RCV001382039 RCV002479994 RCV002519034
NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter)	SNV Germline	ChrX:49078077	Pathogenic	Condition: not provided Inborn genetic diseases Neurodegeneration with brain iron accumulation 5 Global developmental delay Neurodegeneration with brain iron accumulation 5 Oculocutaneous albinism type 7	Criteria Provided Multiple Submitters No Conflicts	CA10603602	rs_886041382	8 SubmittersRCV000272581 RCV000624584 RCV000705613 RCV001255400 RCV003883145
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)	SNV Germline	Chr19:29702825	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA9351885	rs_146492790	9 SubmittersRCV000304840 RCV000468820 RCV001126321 RCV001848060 RCV003323494
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu)	SNV Germline	Chr22:38169326	Conflicting classifications of pathogenicity	PLA2G6-associated neurodegeneration not specified Condition: not provided Autosomal recessive Parkinson disease 14 Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10231376	rs_147948449	7 SubmittersRCV000362034 RCV000518740 RCV000512651 RCV000765652 RCV001303294
NM_031448.6(C19orf12):c.68C>T (p.Ala23Val)	SNV Germline	Chr19:29708346	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia 43 Condition: not provided	Criteria Provided Conflicting Classifications	CA9351991	rs_544395324	5 SubmittersRCV000330049 RCV000797968 RCV003144216
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn)	SNV Germline	Chr22:38169336	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Autosomal recessive Parkinson disease 14 Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy Condition: not provided PLA2G6-associated neurodegeneration Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10231378	rs_150024227	8 SubmittersRCV000260236 RCV000765653 RCV000762074 RCV001094773 RCV002523229
NM_031448.6(C19orf12):c.-11+178C>T	SNV Germline	Chr19:29714947	Conflicting classifications of pathogenicity	not specified Neurodegeneration with brain iron accumulation 4	Criteria Provided Conflicting Classifications	CA16608194	rs_948285503	2 SubmittersRCV000430320 RCV001128370
NM_001029896.2(WDR45):c.436+5G>A	SNV Germline	ChrX:49076425	Conflicting classifications of pathogenicity	Condition: not provided Neurodegeneration with brain iron accumulation 5	Criteria Provided Conflicting Classifications	CA16609189	rs_1057521933	2 SubmittersRCV000427230 RCV001303363
NM_031448.6(C19orf12):c.161G>T (p.Gly54Val)	SNV Germline	Chr19:29702977	Likely pathogenic	Condition: not provided Intellectual disability Global developmental delay Neurodegeneration with brain iron accumulation 4	Criteria Provided Multiple Submitters No Conflicts	CA9351930	rs_752450983	3 SubmittersRCV000486662 RCV000454138 RCV001095481
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu)	SNV Germline	Chr16:74727307	Pathogenic/Likely pathogenic	Spastic paraplegia Inborn genetic diseases Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA16615007	rs_372350326	4 SubmittersRCV000466731 RCV000622305 RCV002248676 RCV004579546
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter)	SNV Germline	Chr19:29702933	Pathogenic/Likely pathogenic	Condition: not provided Neurodegeneration with brain iron accumulation 4	Criteria Provided Multiple Submitters No Conflicts	CA16621727	rs_1064797235	5 SubmittersRCV000488270 RCV000502393
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)	SNV Germline	Chr22:38145447	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration PLA2G6-related disorder not specified	Criteria Provided Conflicting Classifications	CA10231275	rs_141825182	8 SubmittersRCV000585504 RCV000765651 RCV001083799 RCV001150840 RCV003925420 RCV004999527
NM_001029896.2(WDR45):c.500G>A (p.Gly167Glu)	SNV Germline	ChrX:49075882	Pathogenic/Likely pathogenic	Condition: not provided Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts	CA412945145	rs_1131691592	2 SubmittersRCV000494456 RCV000554794
NM_000096.4(CP):c.2756T>C (p.Leu919Pro)	SNV Germline	Chr3:149178537	Pathogenic/Likely pathogenic	Deficiency of ferroxidase Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA354929700	rs_1135401784	3 SubmittersRCV000496150 RCV003226310
NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter)	SNV Germline	Chr19:29702835	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA405142838	rs_1555714808	3 SubmittersRCV000504170 RCV004023363
NM_003560.4(PLA2G6):c.1976A>G (p.Asn659Ser)	SNV Germline	Chr22:38115585	Likely pathogenic	Neurodegeneration with brain iron accumulation 2B	Criteria Provided Single Submitter	CA411524699	rs_1555978219	1 SubmittersRCV000500906
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	Criteria Provided Conflicting Classifications	CA411527942	rs_1555988382	4 SubmittersRCV000502668 RCV001329713 RCV003403171 RCV003441899
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 SubmittersRCV000500147 RCV000763483 RCV001783002 RCV002527311
NM_025233.7(COASY):c.-1C>T	SNV Germline	Chr17:42562622	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 6 Condition: not provided COASY-related disorder	Criteria Provided Conflicting Classifications	CA8577888	rs_147852474	5 SubmittersRCV000509518 RCV000996554 RCV003942665
NM_001029896.2(WDR45):c.38G>C (p.Arg13Pro)	SNV Germline	ChrX:49078058	Conflicting classifications of pathogenicity	Condition: not provided Neurodegeneration with brain iron accumulation 5	Criteria Provided Conflicting Classifications	CA412949514	rs_201177026	2 SubmittersRCV000521286 RCV001046795
NM_024306.5(FA2H):c.131C>A (p.Pro44Gln)	SNV Germline	Chr16:74774625	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA283770000	rs_915291720	2 SubmittersRCV002265790 RCV000555976
NM_001029896.2(WDR45):c.437-2A>C	SNV Germline	ChrX:49075947	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter	CA412945582	rs_886041693	1 SubmittersRCV000538621
NM_000755.5(CRAT):c.962G>A (p.Arg321His)	SNV Germline	Chr9:129100533	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 8 Neurodegeneration with brain iron accumulation Condition: not provided	Criteria Provided Conflicting Classifications	CA5275561	rs_138665095	5 SubmittersRCV000594657 RCV000709992 RCV002531113
NM_001286611.2(REPS1):c.232G>C (p.Val78Leu)	SNV Germline	Chr6:138947835	Pathogenic	Neurodegeneration with brain iron accumulation 7	No Assertion Criteria Provided	CA365815579	rs_1554292444	2 SubmittersRCV000592202
NM_001286611.2(REPS1):c.338C>A (p.Ala113Glu)	SNV Germline	Chr6:138945637	Pathogenic	Neurodegeneration with brain iron accumulation 7 Neurodegeneration with brain iron accumulation	Criteria Provided Single Submitter	CA4024478	rs_201191394	2 SubmittersRCV000595242 RCV000709993
NM_031448.6(C19orf12):c.177G>A (p.Gly59=)	SNV Germline	Chr19:29702961	Conflicting classifications of pathogenicity	not specified Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia 43 Condition: not provided	Criteria Provided Conflicting Classifications	CA9351922	rs_768063881	4 SubmittersRCV000602670 RCV001126322 RCV001457687 RCV003411449
NM_001029896.2(WDR45):c.341+16A>T	SNV Germline	ChrX:49076629	Conflicting classifications of pathogenicity	not specified Neurodegeneration with brain iron accumulation 5	Criteria Provided Conflicting Classifications	CA10408564	rs_782631059	2 SubmittersRCV000614453 RCV002532800
NM_001029896.2(WDR45):c.508C>T (p.Gln170Ter)	SNV Germline	ChrX:49075874	Pathogenic	Inborn genetic diseases Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts	CA412945105	rs_1557084120	2 SubmittersRCV000624568 RCV001809706
NM_001029896.2(WDR45):c.974-1G>A	SNV Germline	ChrX:49074913	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter	CA412941713	rs_1557083830	1 SubmittersRCV000627053
NM_001029896.2(WDR45):c.131-2A>G	SNV Germline	ChrX:49077749	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412949274	rs_1557084491	2 SubmittersRCV000650354 RCV004723034
NM_001029896.2(WDR45):c.516+1G>A	SNV Germline	ChrX:49075865	Pathogenic	Condition: not provided Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts	CA412945068	rs_797046102	3 SubmittersRCV000656299 RCV000689103
NM_001029896.2(WDR45):c.870C>G (p.Tyr290Ter)	SNV Germline	ChrX:49075239	Pathogenic	Condition: not provided Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts		rs_782557596	3 SubmittersRCV000657778 RCV000735636
NM_022089.4(ATP13A2):c.477+2T>G	SNV Germline	Chr1:17004690	Pathogenic/Likely pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided Inborn genetic diseases Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts		rs_758014228	8 SubmittersRCV000702718 RCV000658500 RCV002317906 RCV001269095
NM_003560.4(PLA2G6):c.1039G>A (p.Gly347Arg)	SNV Germline	Chr22:38132869	Pathogenic	Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts		rs_1569263730	3 SubmittersRCV000680067 RCV003235345
NM_001029896.2(WDR45):c.827+1G>C	SNV Germline	ChrX:49075363	Pathogenic	Neurodegeneration with brain iron accumulation 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1557083958	4 SubmittersRCV000695691 RCV001585635
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp)	SNV Germline	Chr22:38145538	Conflicting classifications of pathogenicity	Condition: not provided Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Conflicting Classifications		rs_142530390	5 SubmittersRCV000712686 RCV001085110 RCV001150842 RCV002245623
NM_025233.7(COASY):c.641C>T (p.Ala214Val)	SNV Germline	Chr17:42563263	Likely pathogenic	Neurodegeneration with brain iron accumulation 6	Criteria Provided Single Submitter		rs_1567904066	2 SubmittersRCV000735978
NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu)	SNV Germline	Chr19:29702977	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia 43 Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts		rs_752450983	6 SubmittersRCV000754614 RCV000821485 RCV001544960 RCV002271579
NM_031448.6(C19orf12):c.-10G>C	SNV Germline	Chr19:29708423	Pathogenic	Neurodegeneration with brain iron accumulation 4	No Assertion Criteria Provided		rs_1424291552	1 SubmittersRCV000754615
NM_001029896.2(WDR45):c.2T>A (p.Met1Lys)	SNV Germline	ChrX:49078094	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1569523565	2 SubmittersRCV000760207 RCV000999424
NM_001029896.2(WDR45):c.52C>T (p.Gln18Ter)	SNV Germline	ChrX:49078044	Pathogenic/Likely pathogenic	Condition: not provided Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts		rs_1569523562	3 SubmittersRCV000760729 RCV001194319
NM_001029896.2(WDR45):c.870C>T (p.Tyr290=)	SNV Germline	ChrX:49075239	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782557596	3 SubmittersRCV000768137 RCV002370025
NM_001029896.2(WDR45):c.341+4A>C	SNV Germline	ChrX:49076641	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	No Assertion Criteria Provided		rs_1602539322	1 SubmittersRCV000787276
NM_001286611.2(REPS1):c.1927G>A (p.Asp643Asn)	SNV Germline	Chr6:138912809	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 7 Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_140387177	3 SubmittersRCV000791049 RCV001869246 RCV004027383
NM_025233.7(COASY):c.876T>A (p.Tyr292Ter)	SNV Germline	Chr17:42564136	Pathogenic	Neurodegeneration with brain iron accumulation 6	Criteria Provided Single Submitter		rs_1597713743	1 SubmittersRCV000823134
NM_001029896.2(WDR45):c.1036G>T (p.Glu346Ter)	SNV Germline	ChrX:49074850	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_1602537159	1 SubmittersRCV000797757
NM_001029896.2(WDR45):c.1005T>A (p.Tyr335Ter)	SNV Germline	ChrX:49074881	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_781972464	1 SubmittersRCV000820924
NM_001029896.2(WDR45):c.695G>A (p.Arg232His)	SNV Germline	ChrX:49075575	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 5 See cases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_781978699	3 SubmittersRCV000792874 RCV001420217 RCV003325517
NM_001029896.2(WDR45):c.389A>C (p.Asp130Ala)	SNV Germline	ChrX:49076477	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782723092	2 SubmittersRCV000821877 RCV002372348
NM_001029896.2(WDR45):c.437-3T>G	SNV Germline	ChrX:49075948	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_1602538385	1 SubmittersRCV000791938
NM_001029896.2(WDR45):c.56-2A>G	SNV Germline	ChrX:49077913	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_1602540595	1 SubmittersRCV000804443
NM_001029896.2(WDR45):c.517-2A>G	SNV Germline	ChrX:49075755	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_1602538148	1 SubmittersRCV000816156
NM_001029896.2(WDR45):c.437-1G>A	SNV Germline	ChrX:49075946	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_1602538372	1 SubmittersRCV000825010
NM_001029896.2(WDR45):c.342-2A>C	SNV Germline	ChrX:49076526	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_1602539140	1 SubmittersRCV000850624
NM_025233.7(COASY):c.701-2A>C	SNV Germline	Chr17:42563959	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 6 not specified	Criteria Provided Conflicting Classifications		rs_1022433060	2 SubmittersRCV000851332 RCV004029261
NM_025233.7(COASY):c.802C>T (p.Pro268Ser)	SNV Germline	Chr17:42564062	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 6 Condition: not provided COASY-related disorder	Criteria Provided Conflicting Classifications		rs_143964295	3 SubmittersRCV000945755 RCV001779094 RCV003925855
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln)	SNV Germline	Chr22:38116182	Pathogenic/Likely pathogenic	Infantile neuroaxonal dystrophy Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts		rs_776713955	6 SubmittersRCV000990442 RCV001092012 RCV004689945
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)	SNV Germline	Chr22:38123191	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy PLA2G6-related disorder PLA2G6-associated neurodegeneration Neurodegeneration with brain iron accumulation Condition: not provided	Criteria Provided Conflicting Classifications		rs_141045127	6 SubmittersRCV000990444 RCV003411932 RCV002550617 RCV004702560 RCV004822278
NM_001029896.2(WDR45):c.827+1G>T	SNV Germline	ChrX:49075363	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts		rs_1557083958	3 SubmittersRCV000990817
NM_001029896.2(WDR45):c.235+2T>G	SNV Unknown	ChrX:49077641	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_1602540211	1 SubmittersRCV000990819
NM_001029896.2(WDR45):c.170T>C (p.Leu57Pro)	SNV Unknown	ChrX:49077708	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_1602540331	1 SubmittersRCV000990820
NM_001029896.2(WDR45):c.694C>T (p.Arg232Cys)	SNV Germline	ChrX:49075576	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability Neurodegeneration with brain iron accumulation 5	Criteria Provided Conflicting Classifications		rs_1602537958	3 SubmittersRCV000993551 RCV001260809 RCV002549839
NM_025233.7(COASY):c.1237+1G>C	SNV Germline	Chr17:42564899	Conflicting classifications of pathogenicity	Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Conflicting Classifications		rs_770235902	2 SubmittersRCV000996555 RCV003486952
NM_001029896.2(WDR45):c.235+159C>G	SNV Germline	ChrX:49077484	Likely pathogenic	Condition: not provided Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_1602540060	2 SubmittersRCV000999423 RCV003890154
NM_001029896.2(WDR45):c.185T>C (p.Leu62Pro)	SNV Unknown	ChrX:49077693	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_1602540295	1 SubmittersRCV001004757
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile)	SNV Germline	Chr22:38126371	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Inborn genetic diseases Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B PLA2G6-associated neurodegeneration Condition: not provided	Criteria Provided Conflicting Classifications		rs_146684391	6 SubmittersRCV001046693 RCV002553151 RCV002481926 RCV001144630 RCV002260678
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		rs_1403125636	4 SubmittersRCV001050248 RCV001542713 RCV003317423 RCV004768815
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)	SNV Germline	Chr22:38132952	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration not specified Autosomal recessive Parkinson disease 14 Condition: not provided Neurodegeneration with brain iron accumulation 2B	Criteria Provided Conflicting Classifications		rs_149653983	8 SubmittersRCV001050461 RCV001147487 RCV001779109 RCV001542714 RCV001585947 RCV004768816
NM_001029896.2(WDR45):c.200G>A (p.Gly67Asp)	SNV Germline	ChrX:49077678	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_2065045650	1 SubmittersRCV001042261
NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys)	SNV Germline	ChrX:49077695	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 5 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_2065045729	5 SubmittersRCV001052749 RCV001091505 RCV002409441
NM_001029896.2(WDR45):c.235+1G>A	SNV Germline	ChrX:49077642	Pathogenic	Neurodegeneration with brain iron accumulation 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2065045269	3 SubmittersRCV001214756 RCV001091504
NM_024306.5(FA2H):c.806G>A (p.Arg269His)	SNV Germline	Chr16:74716580	Pathogenic/Likely pathogenic	Spastic paraplegia Condition: not provided Hereditary spastic paraplegia 35 Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts		rs_1429546236	6 SubmittersRCV001219726 RCV001819910 RCV001250165 RCV002282488
NM_001029896.2(WDR45):c.10C>T (p.Gln4Ter)	SNV Germline	ChrX:49078086	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts		rs_2065048388	2 SubmittersRCV001218190
NM_001029896.2(WDR45):c.1005T>G (p.Tyr335Ter)	SNV Germline	ChrX:49074881	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_781972464	1 SubmittersRCV001204597
NM_001029896.2(WDR45):c.827+5G>C	SNV Germline	ChrX:49075359	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts		rs_1557083956	2 SubmittersRCV001210870
NM_001029896.2(WDR45):c.604C>T (p.Gln202Ter)	SNV Germline	ChrX:49075666	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_2065032542	1 SubmittersRCV001235930
NM_001029896.2(WDR45):c.326G>A (p.Arg109His)	SNV Germline	ChrX:49076660	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782329150	2 SubmittersRCV001236016 RCV002322129
NM_003560.4(PLA2G6):c.1742+2T>G	SNV Germline	Chr22:38120757	Likely pathogenic	Neurodegeneration with brain iron accumulation 2B	Criteria Provided Single Submitter		rs_2087478227	1 SubmittersRCV001250206
NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter)	SNV Germline	ChrX:49075244	Pathogenic	Neurodegeneration with brain iron accumulation 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2065029414	3 SubmittersRCV001253570 RCV004809547
NM_001029896.2(WDR45):c.476T>C (p.Leu159Pro)	SNV Germline	ChrX:49075906	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_1197831794	1 SubmittersRCV001253656
NM_001029896.2(WDR45):c.1A>G (p.Met1Val)	SNV Germline	ChrX:49078095	Conflicting classifications of pathogenicity	Intellectual disability Neurodegeneration with brain iron accumulation 5 Condition: not provided	Criteria Provided Conflicting Classifications		rs_2065048490	4 SubmittersRCV001260829 RCV001879996 RCV004783938
NM_003560.4(PLA2G6):c.1427+1G>C	SNV Germline	Chr22:38126370	Likely pathogenic	Inborn genetic diseases Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts		rs_750939090	2 SubmittersRCV001266198 RCV002469366
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		rs_769000561	3 SubmittersRCV001268304 RCV002245911 RCV002537707
NM_025233.7(COASY):c.778C>T (p.Pro260Ser)	SNV Germline	Chr17:42564038	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 6 See cases Condition: not provided	Criteria Provided Conflicting Classifications		rs_756141692	3 SubmittersRCV001308086 RCV002252359 RCV004762065
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter)	SNV Germline	Chr22:38115628	Pathogenic	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		rs_1484455290	5 SubmittersRCV001329715 RCV003507373 RCV004796605
NM_001029896.2(WDR45):c.235+5G>A	SNV Germline	ChrX:49077638	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 5	Criteria Provided Conflicting Classifications		rs_2065045234	2 SubmittersRCV001331686
NM_001029896.2(WDR45):c.226G>T (p.Glu76Ter)	SNV Germline	ChrX:49077652	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_2147817379	1 SubmittersRCV001387145
NM_001029896.2(WDR45):c.524C>T (p.Ala175Val)	SNV Germline	ChrX:49075746	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 5 Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications		rs_192312429	4 SubmittersRCV001418046 RCV001664868 RCV002350808 RCV004998885
NM_001029896.2(WDR45):c.325C>T (p.Arg109Cys)	SNV Germline	ChrX:49076661	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 5 Condition: not provided	Criteria Provided Conflicting Classifications		rs_369310756	2 SubmittersRCV001468848 RCV001544831
NM_003560.4(PLA2G6):c.2287C>T (p.Gln763Ter)	SNV Germline	Chr22:38112295	Likely pathogenic	Neurodegeneration with brain iron accumulation PLA2G6-associated neurodegeneration	Criteria Provided Multiple Submitters No Conflicts		rs_373493102	2 SubmittersRCV001532992 RCV002568913
NM_001029896.2(WDR45):c.755T>C (p.Leu252Pro)	SNV Germline	ChrX:49075436	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	No Assertion Criteria Provided		rs_2147815172	1 SubmittersRCV001542248
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 Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_368008077	4 SubmittersRCV001561435 RCV002266002 RCV002569014 RCV003507377
NM_001029896.2(WDR45):c.436+5G>C	SNV Germline	ChrX:49076425	Conflicting classifications of pathogenicity	Condition: not provided Neurodegeneration with brain iron accumulation 5	Criteria Provided Conflicting Classifications		rs_1057521933	2 SubmittersRCV001562896 RCV002568421
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser)	SNV Germline	Chr22:38115604	Conflicting classifications of pathogenicity	not specified Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications		rs_754204295	4 SubmittersRCV001733384 RCV002243455 RCV002543909 RCV003507383
NM_001029896.2(WDR45):c.828-2A>C	SNV Germline	ChrX:49075283	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_2147814944	1 SubmittersRCV001784033
NM_001029896.2(WDR45):c.342-3C>G	SNV Germline	ChrX:49076527	Pathogenic/Likely pathogenic	Condition: not provided Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts		rs_2147816332	2 SubmittersRCV001817546 RCV003738102
NM_001029896.2(WDR45):c.130+2T>C	SNV Germline	ChrX:49077835	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_2147817625	1 SubmittersRCV001973305
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		rs_764957976	3 SubmittersRCV002016608 RCV002545570 RCV003402056
NM_025233.7(COASY):c.1015C>T (p.Arg339Ter)	SNV Germline	Chr17:42564545	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 6 Condition: not provided	Criteria Provided Conflicting Classifications		rs_139742477	2 SubmittersRCV001975987 RCV003146427
NM_001029896.2(WDR45):c.236-21A>G	SNV Germline	ChrX:49076771	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_2147816654	1 SubmittersRCV002003820
NM_025233.7(COASY):c.1567C>T (p.Gln523Ter)	SNV Germline	Chr17:42565740	Pathogenic	Neurodegeneration with brain iron accumulation 6	Criteria Provided Single Submitter		rs_374709763	1 SubmittersRCV001900249
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		rs_139579057	4 SubmittersRCV002032930 RCV002265035 RCV002482409 RCV002545323
NM_001029896.2(WDR45):c.947C>G (p.Thr316Ser)	SNV Germline	ChrX:49075162	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 5 Condition: not provided	Criteria Provided Conflicting Classifications		rs_781794138	2 SubmittersRCV002038667 RCV003443002
NM_001029896.2(WDR45):c.725+1G>T	SNV Germline	ChrX:49075544	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_2147815304	1 SubmittersRCV002024856
NM_001029896.2(WDR45):c.5C>T (p.Thr2Ile)	SNV Germline	ChrX:49078091	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 5	Criteria Provided Conflicting Classifications		rs_2147817901	2 SubmittersRCV002167196
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		rs_2145770192	2 SubmittersRCV002250245 RCV004594627
NM_001029896.2(WDR45):c.785A>C (p.His262Pro)	SNV Germline	ChrX:49075406	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_2147815135	1 SubmittersRCV002246816
NM_001029896.2(WDR45):c.130+1G>C	SNV Germline	ChrX:49077836	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter		rs_2147817628	1 SubmittersRCV002246817
NM_001029896.2(WDR45):c.2T>C (p.Met1Thr)	SNV Germline	ChrX:49078094	Pathogenic	Neurodegeneration with brain iron accumulation 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1569523565	2 SubmittersRCV002272799 RCV003222411
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu)	SNV Germline	Chr22:38140111	Conflicting classifications of pathogenicity	Condition: not provided Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Neurodegeneration with brain iron accumulation 2B Neurodegeneration with brain iron accumulation	Criteria Provided Conflicting Classifications		rs_776753796	5 SubmittersRCV002275547 RCV003096213 RCV003096214 RCV003339949 RCV003403769
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)	SNV Germline	Chr22:38112529	Conflicting classifications of pathogenicity	PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Conflicting Classifications			4 SubmittersRCV003041414 RCV003050582 RCV003223766 RCV003324065
NM_025233.7(COASY):c.215A>G (p.Tyr72Cys)	SNV Germline	Chr17:42562837	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 6	Criteria Provided Conflicting Classifications			2 SubmittersRCV002630034
NM_001029896.2(WDR45):c.828-2A>G	SNV Germline	ChrX:49075283	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV002810424
NM_025233.7(COASY):c.1129C>T (p.Arg377Ter)	SNV Germline	Chr17:42564790	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002913001 RCV004593094
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)	SNV Germline	Chr1:17000466	Pathogenic	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Neurodegeneration with brain iron accumulation Kufor-Rakeb syndrome	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002913788 RCV003111604 RCV004765595
NM_025233.7(COASY):c.1388-2A>G	SNV Germline	Chr17:42565469	Likely pathogenic	Neurodegeneration with brain iron accumulation 6 COASY-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002937500 RCV003395537 RCV004790277
NM_025233.7(COASY):c.1120A>G (p.Ile374Val)	SNV Germline	Chr17:42564781	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 6 not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV002953764 RCV004068037
NM_025233.7(COASY):c.1579C>T (p.Gln527Ter)	SNV Germline	Chr17:42565752	Pathogenic	Neurodegeneration with brain iron accumulation 6	Criteria Provided Single Submitter			1 SubmittersRCV003009187
NM_025233.7(COASY):c.946C>T (p.Gln316Ter)	SNV Germline	Chr17:42564476	Pathogenic	Neurodegeneration with brain iron accumulation 6	Criteria Provided Single Submitter			1 SubmittersRCV003042784
NM_001029896.2(WDR45):c.928T>C (p.Cys310Arg)	SNV Germline	ChrX:49075181	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV003025183
NM_001029896.2(WDR45):c.827+5G>T	SNV Germline	ChrX:49075359	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV003036874
NM_001029896.2(WDR45):c.130+1G>T	SNV Germline	ChrX:49077836	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV003134786
NM_001029896.2(WDR45):c.641G>A (p.Gly214Asp)	SNV Germline	ChrX:49075629	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV003149136
NM_001029896.2(WDR45):c.437-2A>T	SNV Unknown	ChrX:49075947	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV003152840
NM_003560.4(PLA2G6):c.1743-2A>G	SNV Germline	Chr22:38116213	Likely pathogenic	Neurodegeneration with brain iron accumulation Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003226742 RCV003507490
NM_022089.4(ATP13A2):c.1600C>T (p.Gln534Ter)	SNV Germline	Chr1:16993778	Likely pathogenic	Neurodegeneration with brain iron accumulation	Criteria Provided Single Submitter			1 SubmittersRCV003226841
NM_001029896.2(WDR45):c.516+5G>A	SNV Germline	ChrX:49075861	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV003311579
NM_003560.4(PLA2G6):c.790C>T (p.Gln264Ter)	SNV Germline	Chr22:38139989	Likely pathogenic	Neurodegeneration with brain iron accumulation 2B	Criteria Provided Single Submitter			1 SubmittersRCV003340719
NM_001029896.2(WDR45):c.667C>T (p.Gln223Ter)	SNV Germline	ChrX:49075603	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV003572867
NM_025233.7(COASY):c.423C>A (p.Tyr141Ter)	SNV Germline	Chr17:42563045	Pathogenic	Neurodegeneration with brain iron accumulation 6	Criteria Provided Single Submitter			1 SubmittersRCV003583423
NM_001029896.2(WDR45):c.929G>A (p.Cys310Tyr)	SNV Germline	ChrX:49075180	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 5 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV003576135 RCV004721206
NM_001029896.2(WDR45):c.183C>G (p.Asn61Lys)	SNV Germline	ChrX:49077695	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV003735129
NM_001029896.2(WDR45):c.626C>G (p.Ser209Ter)	SNV Germline	ChrX:49075644	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV003735160
NM_001029896.2(WDR45):c.673A>T (p.Lys225Ter)	SNV Germline	ChrX:49075597	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV003735260
NM_001029896.2(WDR45):c.725+2T>A	SNV Unknown	ChrX:49075543	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV003985185
NM_003560.4(PLA2G6):c.609+2T>C	SNV Germline	Chr22:38143103	Likely pathogenic	Neurodegeneration with brain iron accumulation 2B	Criteria Provided Single Submitter			1 SubmittersRCV004547250
NM_001029896.2(WDR45):c.342-2A>G	SNV Germline	ChrX:49076526	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV004596708
NM_022089.4(ATP13A2):c.352G>T (p.Glu118Ter)	SNV Germline	Chr1:17004817	Pathogenic	Neurodegeneration with brain iron accumulation	Criteria Provided Single Submitter			1 SubmittersRCV004691004
NM_003560.4(PLA2G6):c.1715C>T (p.Thr572Ile)	SNV Germline	Chr22:38120786	Likely pathogenic	Neurodegeneration with brain iron accumulation	Criteria Provided Single Submitter			1 SubmittersRCV004782200
NM_031448.6(C19orf12):c.302G>A (p.Trp101Ter)	SNV Germline	Chr19:29702836	Pathogenic	Neurodegeneration with brain iron accumulation 4	Criteria Provided Single Submitter			1 SubmittersRCV004788570
NM_001029896.2(WDR45):c.641G>T (p.Gly214Val)	SNV Germline	ChrX:49075629	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV004799004

NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)

SNV
Germline

Chr1:16996008

Pathogenic/Likely pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
See cases
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA251716

rs_121918227

5 SubmittersRCV000001280 RCV001851533 RCV002251851 RCV004766975

NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)

SNV
Germline

Chr22:38112212

Pathogenic/Likely pathogenic

Infantile neuroaxonal dystrophy
Iron accumulation in brain
Condition: not provided
Inborn genetic diseases
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
PLA2G6-associated neurodegeneration
Seizure
Autism
Neurodegeneration with brain iron accumulation 2B
Abnormality of the nervous system
Neurodegeneration with brain iron accumulation
PLA2G6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA173265

rs_121908680

23 SubmittersRCV000006572 RCV000147321 RCV000323935 RCV000623021 RCV000763481 RCV000778661 RCV001250474 RCV001333134 RCV001813959 RCV002265549 RCV003407288

NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)

SNV
Germline

Chr22:38120867

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 2B
Congenital cerebellar hypoplasia
Global developmental delay
Microcephaly
Developmental regression
Cerebellar ataxia
Autosomal recessive Parkinson disease 14
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253793

rs_121908681

4 SubmittersRCV000006573 RCV001003639 RCV001542712 RCV003319301

NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)

SNV
Germline

Chr22:38115667

Pathogenic/Likely pathogenic

Karak syndrome
Condition: not provided
Neurodegeneration with brain iron accumulation
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA118062

rs_121908683

6 SubmittersRCV000006576 RCV001092011 RCV001582469 RCV002512836 RCV003507245

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
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Condition: not provided
PLA2G6-associated neurodegeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA253795

rs_121908685

6 SubmittersRCV000006580 RCV000660638 RCV000535771 RCV001540404 RCV002512839

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
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA253797

rs_121908686

13 SubmittersRCV000006581 RCV000811054 RCV001251187 RCV001588801 RCV002496284 RCV003155018

NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)

SNV
Germline

Chr22:38112541

Pathogenic/Likely pathogenic

Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA253798

rs_121908687

8 SubmittersRCV000006582 RCV000763482 RCV001268312 RCV002512840 RCV003507246

NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)

SNV
Germline

Chr22:38115657

Conflicting classifications of pathogenicity

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
Conflicting Classifications

CA259782

rs_387906863

6 SubmittersRCV000023314 RCV000779372 RCV002273936 RCV002477008 RCV002513186

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

Criteria Provided
Multiple Submitters
No Conflicts

CA173198

rs_200075782

9 SubmittersRCV000023318 RCV000147282 RCV000255026 RCV002513187 RCV003105777

NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)

SNV
Germline

Chr16:74727290

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Condition: not provided
Spastic paraplegia
Neurodegeneration with brain iron accumulation

Criteria Provided
Conflicting Classifications

CA259930

rs_387907040

6 SubmittersRCV000023857 RCV000483483 RCV002513207 RCV003317044

NM_031448.6(C19orf12):c.-2C>T

SNV
Germline

Chr19:29708415

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 4
Condition: not provided
Abnormality of iron homeostasis
Hereditary spastic paraplegia 43
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA342784

rs_397514477

11 SubmittersRCV000024152 RCV000426086 RCV001004003 RCV003743545 RCV004700277

NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)

SNV
Germline

Chr19:29702966

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 4
Dystonic disorder
Tremor
Mental deterioration
Adult-onset night blindness
Peripheral visual field loss
Hereditary spastic paraplegia 43
Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA345637

rs_515726205

9 SubmittersRCV000024153 RCV000414809 RCV000528859 RCV001781312 RCV003230372

NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)

SNV
Germline

Chr19:29702747

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 4
Dystonic disorder
Tremor
Mental deterioration
Adult-onset night blindness
Peripheral visual field loss
Hereditary spastic paraplegia 43
Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 5A
Condition: not provided
not specified
Hereditary spastic paraplegia
Hereditary spastic paraplegia 43

Criteria Provided
Conflicting Classifications

CA259994

rs_146170087

15 SubmittersRCV000024154 RCV000415210 RCV000509226 RCV000714889 RCV000553096 RCV001844017 RCV001847623 RCV001083182

NM_031448.6(C19orf12):c.362T>A (p.Leu121Gln)

SNV
Germline

Chr19:29702776

Pathogenic

Neurodegeneration with brain iron accumulation 4

No Assertion Criteria Provided

CA260038

rs_387907173

1 SubmittersRCV000024323

NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter)

SNV
Germline

ChrX:49075573

Pathogenic

Neurodegeneration with brain iron accumulation 5
6 conditions
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA214837

rs_387907329

11 SubmittersRCV000034829 RCV000415276 RCV000254714 RCV000623979

NM_001029896.2(WDR45):c.516G>C (p.Val172=)

SNV
Germline

ChrX:49075866

Pathogenic

Neurodegeneration with brain iron accumulation 5

No Assertion Criteria Provided

CA214839

rs_387907330

1 SubmittersRCV000034830

NM_001029896.2(WDR45):c.634C>T (p.Gln212Ter)

SNV
Germline

ChrX:49075636

Pathogenic

Neurodegeneration with brain iron accumulation 5

No Assertion Criteria Provided

CA214842

rs_387907332

1 SubmittersRCV000034832

NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro)

SNV
Germline

Chr19:29708260

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43
Condition: not provided

Criteria Provided
Conflicting Classifications

CA145387

rs_376103979

6 SubmittersRCV000074454 RCV000074453 RCV000493663

NM_025233.7(COASY):c.1495C>T (p.Arg499Cys)

SNV
Germline

Chr17:42565668

Pathogenic

Neurodegeneration with brain iron accumulation 6
Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA150599

rs_140709867

7 SubmittersRCV000087062 RCV001588921 RCV002298471

NM_025233.7(COASY):c.175C>T (p.Gln59Ter)

SNV
Germline

Chr17:42562797

Pathogenic

Neurodegeneration with brain iron accumulation 6

No Assertion Criteria Provided

CA150601

rs_587777136

1 SubmittersRCV000087063

NM_000096.4(CP):c.656T>A (p.Val219Glu)

SNV
Germline

Chr3:149209336

Conflicting classifications of pathogenicity

Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Conflicting Classifications

CA231060

rs_587780321

2 SubmittersRCV000116824 RCV004586553

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
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14

Criteria Provided
Multiple Submitters
No Conflicts

CA173258

rs_587784350

4 SubmittersRCV000147317 RCV000985141 RCV003507259 RCV003883135

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
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Neurodegeneration with brain iron accumulation
Infantile osteopetrosis with neuroaxonal dysplasia
PLA2G6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA173233

rs_149712244

13 SubmittersRCV000147303 RCV000413569 RCV000578256 RCV000624119 RCV001849994 RCV002514837 RCV002505129 RCV003226213 RCV003338422 RCV003927441

NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg)

SNV
Germline

Chr22:38120867

Pathogenic/Likely pathogenic

Iron accumulation in brain
PLA2G6-associated neurodegeneration
Neurodegeneration with brain iron accumulation
Infantile neuroaxonal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA173221

rs_121908681

4 SubmittersRCV000147296 RCV002514834 RCV003330510 RCV003507257

NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)

SNV
Germline

Chr22:38120886

Conflicting classifications of pathogenicity

Iron accumulation in brain
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA173219

rs_143826762

8 SubmittersRCV000147295 RCV000765649 RCV000811515 RCV001144627 RCV001288670

NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His)

SNV
Germline

Chr22:38120888

Pathogenic/Likely pathogenic

Iron accumulation in brain
Condition: not provided
PLA2G6-associated neurodegeneration
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA173217

rs_535486098

5 SubmittersRCV000147294 RCV000412963 RCV002514833 RCV001823117 RCV001849993

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 SubmittersRCV000147286 RCV000995605 RCV002051814 RCV002514831

NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu)

SNV
Germline

Chr22:38132850

Conflicting classifications of pathogenicity

Iron accumulation in brain
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Condition: not provided
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14

Criteria Provided
Conflicting Classifications

CA173194

rs_587784326

5 SubmittersRCV000147280 RCV001364740 RCV002515975 RCV004546439 RCV004796044

NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)

SNV
Germline

Chr22:38145477

Conflicting classifications of pathogenicity

Iron accumulation in brain
Inborn genetic diseases
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Conflicting Classifications

CA173270

rs_374746113

8 SubmittersRCV000147324 RCV000623680 RCV001270755 RCV002515981 RCV000414098 RCV004700468

NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)

SNV
Germline

Chr19:29708290

Conflicting classifications of pathogenicity

Neurodegeneration
Brain iron accummulation
Condition: not provided
Hereditary spastic paraplegia
Neurodegeneration with brain iron accumulation
Hereditary spastic paraplegia 43

Criteria Provided
Conflicting Classifications

CA186055

rs_200133991

6 SubmittersRCV000162119 RCV000292174 RCV000516097 RCV003479030 RCV001231447

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 SubmittersRCV000195256 RCV001781569 RCV003507265

NM_001029896.2(WDR45):c.1030A>G (p.Asn344Asp)

SNV
Germline

ChrX:49074856

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

CA209672

rs_797046100

1 SubmittersRCV000195088

NM_001029896.2(WDR45):c.516+1G>T

SNV
Germline

ChrX:49075865

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

CA208131

rs_797046102

1 SubmittersRCV000194153

NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)

SNV
Germline

ChrX:49076469

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 5
Condition: not provided
X-linked cerebral-cerebellar-coloboma syndrome syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA206368

rs_797046101

11 SubmittersRCV000477948 RCV000413483 RCV000679876 RCV004965322

NM_001029896.2(WDR45):c.973+1G>A

SNV
Germline

ChrX:49075135

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

CA353447

rs_869312661

2 SubmittersRCV000209935

NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu)

SNV
Germline

Chr19:29702923

Likely pathogenic

Neurodegeneration with brain iron accumulation 4

Criteria Provided
Multiple Submitters
No Conflicts

CA9351912

rs_201987973

3 SubmittersRCV000211114

NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr)

SNV
Germline

Chr22:38133010

Conflicting classifications of pathogenicity

Condition: not provided
PLA2G6-associated neurodegeneration
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10231094

rs_528966598

6 SubmittersRCV000224530 RCV000345705 RCV000765650 RCV002057229

NM_001029896.2(WDR45):c.611G>A (p.Gly204Asp)

SNV
Germline

ChrX:49075659

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

CA10583989

rs_878855326

1 SubmittersRCV000234791

NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)

SNV
Germline

Chr22:38112559

Pathogenic/Likely pathogenic

Condition: not provided
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
PLA2G6-associated neurodegeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA10230570

rs_530348521

7 SubmittersRCV000255821 RCV000853336 RCV002282096 RCV002470830 RCV002494803 RCV002521855

NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter)

SNV
Germline

Chr22:38169219

Pathogenic

Condition: not provided
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA10588727

rs_886039552

3 SubmittersRCV000255422 RCV001205763 RCV004767205

NM_001029896.2(WDR45):c.827+1G>A

SNV
Germline

ChrX:49075363

Pathogenic

Condition: not provided
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10588789

rs_1557083958

11 SubmittersRCV000255829 RCV000845069 RCV000578469

NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)

SNV
Germline

Chr22:38132831

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603512

rs_368497893

5 SubmittersRCV000266508 RCV001382039 RCV002479994 RCV002519034

NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter)

SNV
Germline

ChrX:49078077

Pathogenic

Condition: not provided
Inborn genetic diseases
Neurodegeneration with brain iron accumulation 5
Global developmental delay
Neurodegeneration with brain iron accumulation 5
Oculocutaneous albinism type 7

Criteria Provided
Multiple Submitters
No Conflicts

CA10603602

rs_886041382

8 SubmittersRCV000272581 RCV000624584 RCV000705613 RCV001255400 RCV003883145

NM_031448.6(C19orf12):c.313G>A (p.Val105Met)

SNV
Germline

Chr19:29702825

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 43
Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA9351885

rs_146492790

9 SubmittersRCV000304840 RCV000468820 RCV001126321 RCV001848060 RCV003323494

NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu)

SNV
Germline

Chr22:38169326

Conflicting classifications of pathogenicity

PLA2G6-associated neurodegeneration
not specified
Condition: not provided
Autosomal recessive Parkinson disease 14
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10231376

rs_147948449

7 SubmittersRCV000362034 RCV000518740 RCV000512651 RCV000765652 RCV001303294

NM_031448.6(C19orf12):c.68C>T (p.Ala23Val)

SNV
Germline

Chr19:29708346

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9351991

rs_544395324

5 SubmittersRCV000330049 RCV000797968 RCV003144216

NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn)

SNV
Germline

Chr22:38169336

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Condition: not provided
PLA2G6-associated neurodegeneration
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10231378

rs_150024227

8 SubmittersRCV000260236 RCV000765653 RCV000762074 RCV001094773 RCV002523229

NM_031448.6(C19orf12):c.-11+178C>T

SNV
Germline

Chr19:29714947

Conflicting classifications of pathogenicity

not specified
Neurodegeneration with brain iron accumulation 4

Criteria Provided
Conflicting Classifications

CA16608194

rs_948285503

2 SubmittersRCV000430320 RCV001128370

NM_001029896.2(WDR45):c.436+5G>A

SNV
Germline

ChrX:49076425

Conflicting classifications of pathogenicity

Condition: not provided
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Conflicting Classifications

CA16609189

rs_1057521933

2 SubmittersRCV000427230 RCV001303363

NM_031448.6(C19orf12):c.161G>T (p.Gly54Val)

SNV
Germline

Chr19:29702977

Likely pathogenic

Condition: not provided
Intellectual disability
Global developmental delay
Neurodegeneration with brain iron accumulation 4

Criteria Provided
Multiple Submitters
No Conflicts

CA9351930

rs_752450983

3 SubmittersRCV000486662 RCV000454138 RCV001095481

NM_024306.5(FA2H):c.443C>T (p.Pro148Leu)

SNV
Germline

Chr16:74727307

Pathogenic/Likely pathogenic

Spastic paraplegia
Inborn genetic diseases
Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA16615007

rs_372350326

4 SubmittersRCV000466731 RCV000622305 RCV002248676 RCV004579546

NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter)

SNV
Germline

Chr19:29702933

Pathogenic/Likely pathogenic

Condition: not provided
Neurodegeneration with brain iron accumulation 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16621727

rs_1064797235

5 SubmittersRCV000488270 RCV000502393

NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)

SNV
Germline

Chr22:38145447

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
PLA2G6-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10231275

rs_141825182

8 SubmittersRCV000585504 RCV000765651 RCV001083799 RCV001150840 RCV003925420 RCV004999527

NM_001029896.2(WDR45):c.500G>A (p.Gly167Glu)

SNV
Germline

ChrX:49075882

Pathogenic/Likely pathogenic

Condition: not provided
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

CA412945145

rs_1131691592

2 SubmittersRCV000494456 RCV000554794

NM_000096.4(CP):c.2756T>C (p.Leu919Pro)

SNV
Germline

Chr3:149178537

Pathogenic/Likely pathogenic

Deficiency of ferroxidase
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA354929700

rs_1135401784

3 SubmittersRCV000496150 RCV003226310

NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter)

SNV
Germline

Chr19:29702835

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA405142838

rs_1555714808

3 SubmittersRCV000504170 RCV004023363

NM_003560.4(PLA2G6):c.1976A>G (p.Asn659Ser)

SNV
Germline

Chr22:38115585

Likely pathogenic

Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Single Submitter

CA411524699

rs_1555978219

1 SubmittersRCV000500906

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

Criteria Provided
Conflicting Classifications

CA411527942

rs_1555988382

4 SubmittersRCV000502668 RCV001329713 RCV003403171 RCV003441899

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 SubmittersRCV000500147 RCV000763483 RCV001783002 RCV002527311

NM_025233.7(COASY):c.-1C>T

SNV
Germline

Chr17:42562622

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 6
Condition: not provided
COASY-related disorder

Criteria Provided
Conflicting Classifications

CA8577888

rs_147852474

5 SubmittersRCV000509518 RCV000996554 RCV003942665

NM_001029896.2(WDR45):c.38G>C (p.Arg13Pro)

SNV
Germline

ChrX:49078058

Conflicting classifications of pathogenicity

Condition: not provided
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Conflicting Classifications

CA412949514

rs_201177026

2 SubmittersRCV000521286 RCV001046795

NM_024306.5(FA2H):c.131C>A (p.Pro44Gln)

SNV
Germline

Chr16:74774625

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA283770000

rs_915291720

2 SubmittersRCV002265790 RCV000555976

NM_001029896.2(WDR45):c.437-2A>C

SNV
Germline

ChrX:49075947

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

CA412945582

rs_886041693

1 SubmittersRCV000538621

NM_000755.5(CRAT):c.962G>A (p.Arg321His)

SNV
Germline

Chr9:129100533

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 8
Neurodegeneration with brain iron accumulation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5275561

rs_138665095

5 SubmittersRCV000594657 RCV000709992 RCV002531113

NM_001286611.2(REPS1):c.232G>C (p.Val78Leu)

SNV
Germline

Chr6:138947835

Pathogenic

Neurodegeneration with brain iron accumulation 7

No Assertion Criteria Provided

CA365815579

rs_1554292444

2 SubmittersRCV000592202

NM_001286611.2(REPS1):c.338C>A (p.Ala113Glu)

SNV
Germline

Chr6:138945637

Pathogenic

Neurodegeneration with brain iron accumulation 7
Neurodegeneration with brain iron accumulation

Criteria Provided
Single Submitter

CA4024478

rs_201191394

2 SubmittersRCV000595242 RCV000709993

NM_031448.6(C19orf12):c.177G>A (p.Gly59=)

SNV
Germline

Chr19:29702961

Conflicting classifications of pathogenicity

not specified
Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9351922

rs_768063881

4 SubmittersRCV000602670 RCV001126322 RCV001457687 RCV003411449

NM_001029896.2(WDR45):c.341+16A>T

SNV
Germline

ChrX:49076629

Conflicting classifications of pathogenicity

not specified
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Conflicting Classifications

CA10408564

rs_782631059

2 SubmittersRCV000614453 RCV002532800

NM_001029896.2(WDR45):c.508C>T (p.Gln170Ter)

SNV
Germline

ChrX:49075874

Pathogenic

Inborn genetic diseases
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

CA412945105

rs_1557084120

2 SubmittersRCV000624568 RCV001809706

NM_001029896.2(WDR45):c.974-1G>A

SNV
Germline

ChrX:49074913

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

CA412941713

rs_1557083830

1 SubmittersRCV000627053

NM_001029896.2(WDR45):c.131-2A>G

SNV
Germline

ChrX:49077749

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412949274

rs_1557084491

2 SubmittersRCV000650354 RCV004723034

NM_001029896.2(WDR45):c.516+1G>A

SNV
Germline

ChrX:49075865

Pathogenic

Condition: not provided
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

CA412945068

rs_797046102

3 SubmittersRCV000656299 RCV000689103

NM_001029896.2(WDR45):c.870C>G (p.Tyr290Ter)

SNV
Germline

ChrX:49075239

Pathogenic

Condition: not provided
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_782557596

3 SubmittersRCV000657778 RCV000735636

NM_022089.4(ATP13A2):c.477+2T>G

SNV
Germline

Chr1:17004690

Pathogenic/Likely pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Inborn genetic diseases
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

rs_758014228

8 SubmittersRCV000702718 RCV000658500 RCV002317906 RCV001269095

NM_003560.4(PLA2G6):c.1039G>A (p.Gly347Arg)

SNV
Germline

Chr22:38132869

Pathogenic

Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569263730

3 SubmittersRCV000680067 RCV003235345

NM_001029896.2(WDR45):c.827+1G>C

SNV
Germline

ChrX:49075363

Pathogenic

Neurodegeneration with brain iron accumulation 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1557083958

4 SubmittersRCV000695691 RCV001585635

NM_003560.4(PLA2G6):c.325C>G (p.His109Asp)

SNV
Germline

Chr22:38145538

Conflicting classifications of pathogenicity

Condition: not provided
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Conflicting Classifications

rs_142530390

5 SubmittersRCV000712686 RCV001085110 RCV001150842 RCV002245623

NM_025233.7(COASY):c.641C>T (p.Ala214Val)

SNV
Germline

Chr17:42563263

Likely pathogenic

Neurodegeneration with brain iron accumulation 6

Criteria Provided
Single Submitter

rs_1567904066

2 SubmittersRCV000735978

NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu)

SNV
Germline

Chr19:29702977

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43
Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

rs_752450983

6 SubmittersRCV000754614 RCV000821485 RCV001544960 RCV002271579

NM_031448.6(C19orf12):c.-10G>C

SNV
Germline

Chr19:29708423

Pathogenic

Neurodegeneration with brain iron accumulation 4

No Assertion Criteria Provided

rs_1424291552

1 SubmittersRCV000754615

NM_001029896.2(WDR45):c.2T>A (p.Met1Lys)

SNV
Germline

ChrX:49078094

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569523565

2 SubmittersRCV000760207 RCV000999424

NM_001029896.2(WDR45):c.52C>T (p.Gln18Ter)

SNV
Germline

ChrX:49078044

Pathogenic/Likely pathogenic

Condition: not provided
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569523562

3 SubmittersRCV000760729 RCV001194319

NM_001029896.2(WDR45):c.870C>T (p.Tyr290=)

SNV
Germline

ChrX:49075239

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782557596

3 SubmittersRCV000768137 RCV002370025

NM_001029896.2(WDR45):c.341+4A>C

SNV
Germline

ChrX:49076641

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

No Assertion Criteria Provided

rs_1602539322

1 SubmittersRCV000787276

NM_001286611.2(REPS1):c.1927G>A (p.Asp643Asn)

SNV
Germline

Chr6:138912809

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 7
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_140387177

3 SubmittersRCV000791049 RCV001869246 RCV004027383

NM_025233.7(COASY):c.876T>A (p.Tyr292Ter)

SNV
Germline

Chr17:42564136

Pathogenic

Neurodegeneration with brain iron accumulation 6

Criteria Provided
Single Submitter

rs_1597713743

1 SubmittersRCV000823134

NM_001029896.2(WDR45):c.1036G>T (p.Glu346Ter)

SNV
Germline

ChrX:49074850

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_1602537159

1 SubmittersRCV000797757

NM_001029896.2(WDR45):c.1005T>A (p.Tyr335Ter)

SNV
Germline

ChrX:49074881

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_781972464

1 SubmittersRCV000820924

NM_001029896.2(WDR45):c.695G>A (p.Arg232His)

SNV
Germline

ChrX:49075575

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 5
See cases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_781978699

3 SubmittersRCV000792874 RCV001420217 RCV003325517

NM_001029896.2(WDR45):c.389A>C (p.Asp130Ala)

SNV
Germline

ChrX:49076477

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782723092

2 SubmittersRCV000821877 RCV002372348

NM_001029896.2(WDR45):c.437-3T>G

SNV
Germline

ChrX:49075948

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_1602538385

1 SubmittersRCV000791938

NM_001029896.2(WDR45):c.56-2A>G

SNV
Germline

ChrX:49077913

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_1602540595

1 SubmittersRCV000804443

NM_001029896.2(WDR45):c.517-2A>G

SNV
Germline

ChrX:49075755

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_1602538148

1 SubmittersRCV000816156

NM_001029896.2(WDR45):c.437-1G>A

SNV
Germline

ChrX:49075946

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_1602538372

1 SubmittersRCV000825010

NM_001029896.2(WDR45):c.342-2A>C

SNV
Germline

ChrX:49076526

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_1602539140

1 SubmittersRCV000850624

NM_025233.7(COASY):c.701-2A>C

SNV
Germline

Chr17:42563959

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 6
not specified

Criteria Provided
Conflicting Classifications

rs_1022433060

2 SubmittersRCV000851332 RCV004029261

NM_025233.7(COASY):c.802C>T (p.Pro268Ser)

SNV
Germline

Chr17:42564062

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 6
Condition: not provided
COASY-related disorder

Criteria Provided
Conflicting Classifications

rs_143964295

3 SubmittersRCV000945755 RCV001779094 RCV003925855

NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln)

SNV
Germline

Chr22:38116182

Pathogenic/Likely pathogenic

Infantile neuroaxonal dystrophy
Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

rs_776713955

6 SubmittersRCV000990442 RCV001092012 RCV004689945

NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)

SNV
Germline

Chr22:38123191

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
PLA2G6-related disorder
PLA2G6-associated neurodegeneration
Neurodegeneration with brain iron accumulation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141045127

6 SubmittersRCV000990444 RCV003411932 RCV002550617 RCV004702560 RCV004822278

NM_001029896.2(WDR45):c.827+1G>T

SNV
Germline

ChrX:49075363

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1557083958

3 SubmittersRCV000990817

NM_001029896.2(WDR45):c.235+2T>G

SNV
Unknown

ChrX:49077641

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_1602540211

1 SubmittersRCV000990819

NM_001029896.2(WDR45):c.170T>C (p.Leu57Pro)

SNV
Unknown

ChrX:49077708

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_1602540331

1 SubmittersRCV000990820

NM_001029896.2(WDR45):c.694C>T (p.Arg232Cys)

SNV
Germline

ChrX:49075576

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Conflicting Classifications

rs_1602537958

3 SubmittersRCV000993551 RCV001260809 RCV002549839

NM_025233.7(COASY):c.1237+1G>C

SNV
Germline

Chr17:42564899

Conflicting classifications of pathogenicity

Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Conflicting Classifications

rs_770235902

2 SubmittersRCV000996555 RCV003486952

NM_001029896.2(WDR45):c.235+159C>G

SNV
Germline

ChrX:49077484

Likely pathogenic

Condition: not provided
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_1602540060

2 SubmittersRCV000999423 RCV003890154

NM_001029896.2(WDR45):c.185T>C (p.Leu62Pro)

SNV
Unknown

ChrX:49077693

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_1602540295

1 SubmittersRCV001004757

NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile)

SNV
Germline

Chr22:38126371

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
Inborn genetic diseases
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
PLA2G6-associated neurodegeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146684391

6 SubmittersRCV001046693 RCV002553151 RCV002481926 RCV001144630 RCV002260678

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

rs_1403125636

4 SubmittersRCV001050248 RCV001542713 RCV003317423 RCV004768815

NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)

SNV
Germline

Chr22:38132952

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
not specified
Autosomal recessive Parkinson disease 14
Condition: not provided
Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Conflicting Classifications

rs_149653983

8 SubmittersRCV001050461 RCV001147487 RCV001779109 RCV001542714 RCV001585947 RCV004768816

NM_001029896.2(WDR45):c.200G>A (p.Gly67Asp)

SNV
Germline

ChrX:49077678

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_2065045650

1 SubmittersRCV001042261

NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys)

SNV
Germline

ChrX:49077695

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2065045729

5 SubmittersRCV001052749 RCV001091505 RCV002409441

NM_001029896.2(WDR45):c.235+1G>A

SNV
Germline

ChrX:49077642

Pathogenic

Neurodegeneration with brain iron accumulation 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2065045269

3 SubmittersRCV001214756 RCV001091504

NM_024306.5(FA2H):c.806G>A (p.Arg269His)

SNV
Germline

Chr16:74716580

Pathogenic/Likely pathogenic

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 35
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

rs_1429546236

6 SubmittersRCV001219726 RCV001819910 RCV001250165 RCV002282488

NM_001029896.2(WDR45):c.10C>T (p.Gln4Ter)

SNV
Germline

ChrX:49078086

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_2065048388

2 SubmittersRCV001218190

NM_001029896.2(WDR45):c.1005T>G (p.Tyr335Ter)

SNV
Germline

ChrX:49074881

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_781972464

1 SubmittersRCV001204597

NM_001029896.2(WDR45):c.827+5G>C

SNV
Germline

ChrX:49075359

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1557083956

2 SubmittersRCV001210870

NM_001029896.2(WDR45):c.604C>T (p.Gln202Ter)

SNV
Germline

ChrX:49075666

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_2065032542

1 SubmittersRCV001235930

NM_001029896.2(WDR45):c.326G>A (p.Arg109His)

SNV
Germline

ChrX:49076660

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782329150

2 SubmittersRCV001236016 RCV002322129

NM_003560.4(PLA2G6):c.1742+2T>G

SNV
Germline

Chr22:38120757

Likely pathogenic

Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Single Submitter

rs_2087478227

1 SubmittersRCV001250206

NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter)

SNV
Germline

ChrX:49075244

Pathogenic

Neurodegeneration with brain iron accumulation 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2065029414

3 SubmittersRCV001253570 RCV004809547

NM_001029896.2(WDR45):c.476T>C (p.Leu159Pro)

SNV
Germline

ChrX:49075906

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_1197831794

1 SubmittersRCV001253656

NM_001029896.2(WDR45):c.1A>G (p.Met1Val)

SNV
Germline

ChrX:49078095

Conflicting classifications of pathogenicity

Intellectual disability
Neurodegeneration with brain iron accumulation 5
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2065048490

4 SubmittersRCV001260829 RCV001879996 RCV004783938

NM_003560.4(PLA2G6):c.1427+1G>C

SNV
Germline

Chr22:38126370

Likely pathogenic

Inborn genetic diseases
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

rs_750939090

2 SubmittersRCV001266198 RCV002469366

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

rs_769000561

3 SubmittersRCV001268304 RCV002245911 RCV002537707

NM_025233.7(COASY):c.778C>T (p.Pro260Ser)

SNV
Germline

Chr17:42564038

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 6
See cases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756141692

3 SubmittersRCV001308086 RCV002252359 RCV004762065

NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter)

SNV
Germline

Chr22:38115628

Pathogenic

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

rs_1484455290

5 SubmittersRCV001329715 RCV003507373 RCV004796605

NM_001029896.2(WDR45):c.235+5G>A

SNV
Germline

ChrX:49077638

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Conflicting Classifications

rs_2065045234

2 SubmittersRCV001331686

NM_001029896.2(WDR45):c.226G>T (p.Glu76Ter)

SNV
Germline

ChrX:49077652

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_2147817379

1 SubmittersRCV001387145

NM_001029896.2(WDR45):c.524C>T (p.Ala175Val)

SNV
Germline

ChrX:49075746

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 5
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

rs_192312429

4 SubmittersRCV001418046 RCV001664868 RCV002350808 RCV004998885

NM_001029896.2(WDR45):c.325C>T (p.Arg109Cys)

SNV
Germline

ChrX:49076661

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 5
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369310756

2 SubmittersRCV001468848 RCV001544831

NM_003560.4(PLA2G6):c.2287C>T (p.Gln763Ter)

SNV
Germline

Chr22:38112295

Likely pathogenic

Neurodegeneration with brain iron accumulation
PLA2G6-associated neurodegeneration

Criteria Provided
Multiple Submitters
No Conflicts

rs_373493102

2 SubmittersRCV001532992 RCV002568913

NM_001029896.2(WDR45):c.755T>C (p.Leu252Pro)

SNV
Germline

ChrX:49075436

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

No Assertion Criteria Provided

rs_2147815172

1 SubmittersRCV001542248

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
Infantile neuroaxonal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_368008077

4 SubmittersRCV001561435 RCV002266002 RCV002569014 RCV003507377

NM_001029896.2(WDR45):c.436+5G>C

SNV
Germline

ChrX:49076425

Conflicting classifications of pathogenicity

Condition: not provided
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Conflicting Classifications

rs_1057521933

2 SubmittersRCV001562896 RCV002568421

NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser)

SNV
Germline

Chr22:38115604

Conflicting classifications of pathogenicity

not specified
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

rs_754204295

4 SubmittersRCV001733384 RCV002243455 RCV002543909 RCV003507383

NM_001029896.2(WDR45):c.828-2A>C

SNV
Germline

ChrX:49075283

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_2147814944

1 SubmittersRCV001784033

NM_001029896.2(WDR45):c.342-3C>G

SNV
Germline

ChrX:49076527

Pathogenic/Likely pathogenic

Condition: not provided
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147816332

2 SubmittersRCV001817546 RCV003738102

NM_001029896.2(WDR45):c.130+2T>C

SNV
Germline

ChrX:49077835

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_2147817625

1 SubmittersRCV001973305

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

rs_764957976

3 SubmittersRCV002016608 RCV002545570 RCV003402056

NM_025233.7(COASY):c.1015C>T (p.Arg339Ter)

SNV
Germline

Chr17:42564545

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 6
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_139742477

2 SubmittersRCV001975987 RCV003146427

NM_001029896.2(WDR45):c.236-21A>G

SNV
Germline

ChrX:49076771

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_2147816654

1 SubmittersRCV002003820

NM_025233.7(COASY):c.1567C>T (p.Gln523Ter)

SNV
Germline

Chr17:42565740

Pathogenic

Neurodegeneration with brain iron accumulation 6

Criteria Provided
Single Submitter

rs_374709763

1 SubmittersRCV001900249

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

rs_139579057

4 SubmittersRCV002032930 RCV002265035 RCV002482409 RCV002545323

NM_001029896.2(WDR45):c.947C>G (p.Thr316Ser)

SNV
Germline

ChrX:49075162

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 5
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781794138

2 SubmittersRCV002038667 RCV003443002

NM_001029896.2(WDR45):c.725+1G>T

SNV
Germline

ChrX:49075544

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_2147815304

1 SubmittersRCV002024856

NM_001029896.2(WDR45):c.5C>T (p.Thr2Ile)

SNV
Germline

ChrX:49078091

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Conflicting Classifications

rs_2147817901

2 SubmittersRCV002167196

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

rs_2145770192

2 SubmittersRCV002250245 RCV004594627

NM_001029896.2(WDR45):c.785A>C (p.His262Pro)

SNV
Germline

ChrX:49075406

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_2147815135

1 SubmittersRCV002246816

NM_001029896.2(WDR45):c.130+1G>C

SNV
Germline

ChrX:49077836

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

rs_2147817628

1 SubmittersRCV002246817

NM_001029896.2(WDR45):c.2T>C (p.Met1Thr)

SNV
Germline

ChrX:49078094

Pathogenic

Neurodegeneration with brain iron accumulation 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569523565

2 SubmittersRCV002272799 RCV003222411

NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu)

SNV
Germline

Chr22:38140111

Conflicting classifications of pathogenicity

Condition: not provided
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation

Criteria Provided
Conflicting Classifications

rs_776753796

5 SubmittersRCV002275547 RCV003096213 RCV003096214 RCV003339949 RCV003403769

NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)

SNV
Germline

Chr22:38112529

Conflicting classifications of pathogenicity

PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003041414 RCV003050582 RCV003223766 RCV003324065

NM_025233.7(COASY):c.215A>G (p.Tyr72Cys)

SNV
Germline

Chr17:42562837

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 6

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002630034

NM_001029896.2(WDR45):c.828-2A>G

SNV
Germline

ChrX:49075283

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV002810424

NM_025233.7(COASY):c.1129C>T (p.Arg377Ter)

SNV
Germline

Chr17:42564790

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002913001 RCV004593094

NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)

SNV
Germline

Chr1:17000466

Pathogenic

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Neurodegeneration with brain iron accumulation
Kufor-Rakeb syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002913788 RCV003111604 RCV004765595

NM_025233.7(COASY):c.1388-2A>G

SNV
Germline

Chr17:42565469

Likely pathogenic

Neurodegeneration with brain iron accumulation 6
COASY-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002937500 RCV003395537 RCV004790277

NM_025233.7(COASY):c.1120A>G (p.Ile374Val)

SNV
Germline

Chr17:42564781

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 6
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002953764 RCV004068037

NM_025233.7(COASY):c.1579C>T (p.Gln527Ter)

SNV
Germline

Chr17:42565752

Pathogenic

Neurodegeneration with brain iron accumulation 6

Criteria Provided
Single Submitter

1 SubmittersRCV003009187

NM_025233.7(COASY):c.946C>T (p.Gln316Ter)

SNV
Germline

Chr17:42564476

Pathogenic

Neurodegeneration with brain iron accumulation 6

Criteria Provided
Single Submitter

1 SubmittersRCV003042784

NM_001029896.2(WDR45):c.928T>C (p.Cys310Arg)

SNV
Germline

ChrX:49075181

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV003025183

NM_001029896.2(WDR45):c.827+5G>T

SNV
Germline

ChrX:49075359

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV003036874

NM_001029896.2(WDR45):c.130+1G>T

SNV
Germline

ChrX:49077836

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV003134786

NM_001029896.2(WDR45):c.641G>A (p.Gly214Asp)

SNV
Germline

ChrX:49075629

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV003149136

NM_001029896.2(WDR45):c.437-2A>T

SNV
Unknown

ChrX:49075947

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV003152840

NM_003560.4(PLA2G6):c.1743-2A>G

SNV
Germline

Chr22:38116213

Likely pathogenic

Neurodegeneration with brain iron accumulation
Infantile neuroaxonal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003226742 RCV003507490

NM_022089.4(ATP13A2):c.1600C>T (p.Gln534Ter)

SNV
Germline

Chr1:16993778

Likely pathogenic

Neurodegeneration with brain iron accumulation

Criteria Provided
Single Submitter

1 SubmittersRCV003226841

NM_001029896.2(WDR45):c.516+5G>A

SNV
Germline

ChrX:49075861

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV003311579

NM_003560.4(PLA2G6):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr22:38139989

Likely pathogenic

Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Single Submitter

1 SubmittersRCV003340719

NM_001029896.2(WDR45):c.667C>T (p.Gln223Ter)

SNV
Germline

ChrX:49075603

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV003572867

NM_025233.7(COASY):c.423C>A (p.Tyr141Ter)

SNV
Germline

Chr17:42563045

Pathogenic

Neurodegeneration with brain iron accumulation 6

Criteria Provided
Single Submitter

1 SubmittersRCV003583423

NM_001029896.2(WDR45):c.929G>A (p.Cys310Tyr)

SNV
Germline

ChrX:49075180

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 5
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003576135 RCV004721206

NM_001029896.2(WDR45):c.183C>G (p.Asn61Lys)

SNV
Germline

ChrX:49077695

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV003735129

NM_001029896.2(WDR45):c.626C>G (p.Ser209Ter)

SNV
Germline

ChrX:49075644

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV003735160

NM_001029896.2(WDR45):c.673A>T (p.Lys225Ter)

SNV
Germline

ChrX:49075597

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV003735260

NM_001029896.2(WDR45):c.725+2T>A

SNV
Unknown

ChrX:49075543

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV003985185

NM_003560.4(PLA2G6):c.609+2T>C

SNV
Germline

Chr22:38143103

Likely pathogenic

Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Single Submitter

1 SubmittersRCV004547250

NM_001029896.2(WDR45):c.342-2A>G

SNV
Germline

ChrX:49076526

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV004596708

NM_022089.4(ATP13A2):c.352G>T (p.Glu118Ter)

SNV
Germline

Chr1:17004817

Pathogenic

Neurodegeneration with brain iron accumulation

Criteria Provided
Single Submitter

1 SubmittersRCV004691004

NM_003560.4(PLA2G6):c.1715C>T (p.Thr572Ile)

SNV
Germline

Chr22:38120786

Likely pathogenic

Neurodegeneration with brain iron accumulation

Criteria Provided
Single Submitter

1 SubmittersRCV004782200

NM_031448.6(C19orf12):c.302G>A (p.Trp101Ter)

SNV
Germline

Chr19:29702836

Pathogenic

Neurodegeneration with brain iron accumulation 4

Criteria Provided
Single Submitter

1 SubmittersRCV004788570

NM_001029896.2(WDR45):c.641G>T (p.Gly214Val)

SNV
Germline

ChrX:49075629

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV004799004