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 Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 See cases Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA251716	rs_121918227	6 SubmittersRCV000001280 RCV001851533 RCV002251851 RCV004766975
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	SNV Germline	Chr22:38112212	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Iron accumulation in brain Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B PLA2G6-associated neurodegeneration Neurodegeneration with brain iron accumulation 2B Autism Seizure Abnormality of the nervous system Neurodegeneration with brain iron accumulation PLA2G6-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA173265	rs_121908680	24 SubmittersRCV000006572 RCV000147321 RCV000763481 RCV000778661 RCV001333134 RCV001250474 RCV001813959 RCV002265549 RCV003407288 RCV000323935 RCV000623021
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)	SNV Germline	Chr22:38120867	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 2B Cerebellar ataxia Congenital cerebellar hypoplasia Global developmental delay Developmental regression Microcephaly Condition: not provided Autosomal recessive Parkinson disease 14	Criteria Provided Multiple Submitters No Conflicts	CA253793	rs_121908681	4 SubmittersRCV000006573 RCV001003639 RCV003319301 RCV001542712
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)	SNV Germline	Chr22:38115667	Pathogenic/Likely pathogenic	Karak syndrome Neurodegeneration with brain iron accumulation Condition: not provided PLA2G6-associated neurodegeneration Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA118062	rs_121908683	7 SubmittersRCV000006576 RCV001582469 RCV001092011 RCV002512836 RCV005031400 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 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 PLA2G6-associated neurodegeneration Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253795	rs_121908685	7 SubmittersRCV000006580 RCV000535771 RCV000660638 RCV002512839 RCV001540404
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)	SNV Germline	Chr22:38112558	Pathogenic/Likely pathogenic	Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Condition: not provided Autosomal recessive Parkinson disease 14 Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA253797	rs_121908686	13 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 Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Condition: not provided PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA253798	rs_121908687	8 SubmittersRCV000006582 RCV000763482 RCV001268312 RCV002512840 RCV003507246
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)	SNV Germline	Chr22:38115657	Pathogenic/Likely pathogenic	Autosomal recessive Parkinson disease 14 PLA2G6-associated neurodegeneration Condition: not provided Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA259782	rs_387906863	5 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 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Multiple Submitters No Conflicts	CA173198	rs_200075782	10 SubmittersRCV000023318 RCV000147282 RCV000255026 RCV002513187 RCV003105777 RCV005031452
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr)	SNV Germline	Chr22:38132917	Pathogenic	Condition: not provided Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 PLA2G6-associated neurodegeneration	Criteria Provided Multiple Submitters No Conflicts	CA259786	rs_199935023	8 SubmittersRCV000498427 RCV000023319 RCV001852019 RCV005025079 RCV002513188
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)	SNV Germline	Chr16:74727290	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 35 Condition: not provided Neurodegeneration with brain iron accumulation Spastic paraplegia	Criteria Provided Conflicting Classifications	CA259930	rs_387907040	6 SubmittersRCV000023857 RCV000483483 RCV003317044 RCV002513207
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 Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4	Criteria Provided Multiple Submitters No Conflicts	CA342784	rs_397514477	14 SubmittersRCV000024152 RCV000426086 RCV001004003 RCV003743545 RCV004700277 RCV005016294
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)	SNV Germline	Chr19:29702966	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 4 Dystonic disorder Adult-onset night blindness Peripheral visual field loss Mental deterioration Tremor Hereditary spastic paraplegia 43 Condition: not provided Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4 Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA345637	rs_515726205	10 SubmittersRCV000024153 RCV000414809 RCV000528859 RCV001781312 RCV005016295 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 Mental deterioration Adult-onset night blindness Peripheral visual field loss Tremor Condition: not provided Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia 5A Hereditary spastic paraplegia 43 not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA259994	rs_146170087	15 SubmittersRCV000024154 RCV000415210 RCV000553096 RCV000509226 RCV000714889 RCV001083182 RCV001844017 RCV001847623
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 Condition: not provided 6 conditions Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA214837	rs_387907329	11 SubmittersRCV000034829 RCV000254714 RCV000415276 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_000096.4(CP):c.1049C>A (p.Ala350Asp)	SNV Germline	Chr3:149206327	Likely pathogenic	Deficiency of ferroxidase Neurodegeneration with brain iron accumulation	Criteria Provided Single Submitter	CA344477	rs_386134127	2 SubmittersRCV000034876 RCV005237457
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro)	SNV Germline	Chr19:29708260	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4 Condition: not provided Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4	Criteria Provided Conflicting Classifications	CA145387	rs_376103979	8 SubmittersRCV000074453 RCV000074454 RCV000493663 RCV005025116
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	Likely pathogenic	Condition: not provided Neurodegeneration with brain iron accumulation Deficiency of ferroxidase	Criteria Provided Multiple Submitters No Conflicts	CA231060	rs_587780321	3 SubmittersRCV000116824 RCV004586553 RCV005031613
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp)	SNV Germline	Chr22:38112547	Pathogenic/Likely pathogenic	Iron accumulation in brain Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Multiple Submitters No Conflicts	CA173258	rs_587784350	4 SubmittersRCV000147317 RCV000985141 RCV003507259 RCV003883135
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)	SNV Germline	Chr22:38112565	Conflicting classifications of pathogenicity	Iron accumulation in brain Condition: not provided PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA173256	rs_587784349	8 SubmittersRCV000147316 RCV000254887 RCV000778662 RCV000793778 RCV005031652 RCV002515980
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter)	SNV Germline	Chr22:38113591	Conflicting classifications of pathogenicity	Iron accumulation in brain Condition: not provided PLA2G6-associated neurodegeneration Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA173251	rs_587784346	6 SubmittersRCV000147313 RCV001781485 RCV002515978 RCV005031651 RCV003507258
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter)	SNV Germline	Chr22:38115658	Pathogenic	Iron accumulation in brain Condition: not provided PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Multiple Submitters No Conflicts	CA173235	rs_587784339	9 SubmittersRCV000147304 RCV000313731 RCV000600346 RCV000680170 RCV005025226
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)	SNV Germline	Chr22:38116155	Pathogenic/Likely pathogenic	Iron accumulation in brain Condition: not provided Neurodegeneration with brain iron accumulation 2B Inborn genetic diseases Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Neurodegeneration with brain iron accumulation Infantile osteopetrosis with neuroaxonal dysplasia PLA2G6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA173233	rs_149712244	13 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 Neurodegeneration with brain iron accumulation Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration	Criteria Provided Multiple Submitters No Conflicts	CA173221	rs_121908681	4 SubmittersRCV000147296 RCV003330510 RCV003507257 RCV002514834
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)	SNV Germline	Chr22:38120886	Conflicting classifications of pathogenicity	Iron accumulation in brain Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Condition: not provided	Criteria Provided Conflicting Classifications	CA173219	rs_143826762	8 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 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B PLA2G6-associated neurodegeneration	Criteria Provided Multiple Submitters No Conflicts	CA173217	rs_535486098	5 SubmittersRCV000147294 RCV000412963 RCV001849993 RCV001823117 RCV002514833
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)	SNV Germline	Chr22:38123185	Conflicting classifications of pathogenicity	Iron accumulation in brain Infantile neuroaxonal dystrophy not specified Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Conflicting Classifications	CA173208	rs_587784332	5 SubmittersRCV000147288 RCV000679861 RCV002469025 RCV005025225
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.1117G>A (p.Gly373Arg)	SNV Germline	Chr22:38129523	Pathogenic/Likely pathogenic	Iron accumulation in brain Infantile neuroaxonal dystrophy Inborn genetic diseases Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Multiple Submitters No Conflicts	CA173200	rs_587784327	5 SubmittersRCV000147283 RCV000199765 RCV001266410 RCV005025224
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu)	SNV Germline	Chr22:38132850	Conflicting classifications of pathogenicity	Iron accumulation in brain PLA2G6-associated neurodegeneration Condition: not provided Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA173194	rs_587784326	7 SubmittersRCV000147280 RCV002515975 RCV004546439 RCV001364740 RCV004796044 RCV005237579 RCV005452947
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)	SNV Germline	Chr22:38145477	Conflicting classifications of pathogenicity	Iron accumulation in brain Condition: not provided Inborn genetic diseases Neurodegeneration with brain iron accumulation Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Conflicting Classifications	CA173270	rs_374746113	10 SubmittersRCV000147324 RCV000414098 RCV000623680 RCV004700468 RCV001270755 RCV002515981 RCV005031653
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)	SNV Germline	Chr19:29708290	Conflicting classifications of pathogenicity	Brain iron accummulation Neurodegeneration Hereditary spastic paraplegia Condition: not provided Neurodegeneration with brain iron accumulation Hereditary spastic paraplegia 43	Criteria Provided Conflicting Classifications	CA186055	rs_200133991	6 SubmittersRCV000162119 RCV000516097 RCV000292174 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	Condition: not provided X-linked cerebral-cerebellar-coloboma syndrome syndrome Neurodegeneration with brain iron accumulation 5 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA206368	rs_797046101	11 SubmittersRCV000413483 RCV000679876 RCV000477948 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 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10231094	rs_528966598	6 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 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 PLA2G6-associated neurodegeneration Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation 2B	Criteria Provided Multiple Submitters No Conflicts	CA10230570	rs_530348521	7 SubmittersRCV000255821 RCV000853336 RCV002494803 RCV002521855 RCV002282096 RCV002470830
NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter)	SNV Germline	Chr22:38169219	Pathogenic	Condition: not provided Neurodegeneration with brain iron accumulation Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10588727	rs_886039552	3 SubmittersRCV000255422 RCV004767205 RCV001205763
NM_001029896.2(WDR45):c.827+1G>A	SNV Germline	ChrX:49075363	Pathogenic	Condition: not provided Neurodegeneration with brain iron accumulation 5 Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA10588789	rs_1557083958	11 SubmittersRCV000255829 RCV000578469 RCV000845069
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)	SNV Germline	Chr22:38132831	Pathogenic/Likely pathogenic	Condition: not provided Infantile neuroaxonal dystrophy Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B PLA2G6-associated neurodegeneration	Criteria Provided Multiple Submitters No Conflicts	CA10603512	rs_368497893	5 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_001029896.2(WDR45):c.437-2A>G	SNV Germline	ChrX:49075947	Pathogenic	Condition: not provided Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts	CA10603676	rs_886041693	2 SubmittersRCV000380857 RCV005090332
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)	SNV Germline	Chr19:29702825	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 43 Hereditary spastic paraplegia Neurodegeneration with brain iron accumulation 4 not specified	Criteria Provided Conflicting Classifications	CA9351885	rs_146492790	9 SubmittersRCV000304840 RCV000468820 RCV001848060 RCV001126321 RCV003323494
NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr)	SNV Germline	Chr22:38145597	Conflicting classifications of pathogenicity	PLA2G6-associated neurodegeneration Condition: not provided Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Conflicting Classifications	CA10231302	rs_142715413	5 SubmittersRCV000305035 RCV000487773 RCV001473715 RCV005398468
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu)	SNV Germline	Chr22:38169326	Conflicting classifications of pathogenicity	PLA2G6-associated neurodegeneration Condition: not provided Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 not specified Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10231376	rs_147948449	7 SubmittersRCV000362034 RCV000512651 RCV000765652 RCV000518740 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 Condition: not provided Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B PLA2G6-associated neurodegeneration Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10231378	rs_150024227	9 SubmittersRCV000260236 RCV000762074 RCV000765653 RCV001094773 RCV002523229
NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln)	SNV Germline	Chr22:38169218	Conflicting classifications of pathogenicity	Condition: not provided Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Spastic ataxia Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Conflicting Classifications	CA10231350	rs_11570607	5 SubmittersRCV000416070 RCV001865303 RCV001144722 RCV001643138 RCV005398506
NM_000096.4(CP):c.1948G>A (p.Gly650Arg)	SNV Germline	Chr3:149186649	Pathogenic/Likely pathogenic	Condition: not provided Deficiency of ferroxidase Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA2660874	rs_776936158	5 SubmittersRCV000425954 RCV000504529 RCV005055965
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_003560.4(PLA2G6):c.1501G>A (p.Glu501Lys)	SNV Germline	Chr22:38123185	Conflicting classifications of pathogenicity	Condition: not provided Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Conflicting Classifications	CA16609098	rs_587784332	3 SubmittersRCV000425006 RCV005398519
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	Global developmental delay Intellectual disability Condition: not provided Neurodegeneration with brain iron accumulation 4	Criteria Provided Multiple Submitters No Conflicts	CA9351930	rs_752450983	3 SubmittersRCV000454138 RCV000486662 RCV001095481
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His)	SNV Germline	Chr22:38113560	Conflicting classifications of pathogenicity	Abnormal brain morphology Condition: not provided Infantile neuroaxonal dystrophy Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B PLA2G6-associated neurodegeneration	Criteria Provided Conflicting Classifications	CA10230599	rs_147455037	6 SubmittersRCV000454205 RCV001550736 RCV000804046 RCV005027496 RCV002526373
NM_003560.4(PLA2G6):c.1640A>G (p.Glu547Gly)	SNV Germline	Chr22:38120861	Likely pathogenic	Abnormal brain morphology Infantile neuroaxonal dystrophy Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Multiple Submitters No Conflicts	CA16609546	rs_1060499764	3 SubmittersRCV000454298 RCV001808827 RCV005027497
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 Hereditary spastic paraplegia 35	Criteria Provided Multiple Submitters No Conflicts	CA16615007	rs_372350326	6 SubmittersRCV000466731 RCV000622305 RCV002248676 RCV004579546 RCV005018763
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	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Condition: not provided Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B not specified PLA2G6-related disorder	Criteria Provided Conflicting Classifications	CA10231275	rs_141825182	8 SubmittersRCV001083799 RCV001150840 RCV000585504 RCV000765651 RCV004999527 RCV003925420
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 PLA2G6-associated neurodegeneration	Criteria Provided Conflicting Classifications	CA411527942	rs_1555988382	6 SubmittersRCV000502668 RCV001329713 RCV003403171 RCV003441899 RCV005411461
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	Spastic paraplegia Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA283770000	rs_915291720	2 SubmittersRCV000555976 RCV002265790
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 Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Conflicting Classifications	CA5275561	rs_138665095	5 SubmittersRCV000594657 RCV002531113 RCV000709992
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	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 7 Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Conflicting Classifications	CA4024478	rs_201191394	3 SubmittersRCV000595242 RCV005091580 RCV000709993
NM_031448.6(C19orf12):c.177G>A (p.Gly59=)	SNV Germline	Chr19:29702961	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA9351922	rs_768063881	4 SubmittersRCV000602670 RCV001457687 RCV001126322 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_000096.4(CP):c.583G>A (p.Gly195Arg)	SNV Germline	Chr3:149210191	Likely pathogenic	Deficiency of ferroxidase Inborn genetic diseases Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA2661289	rs_750451693	4 SubmittersRCV000809524 RCV000624072 RCV001584450 RCV005431812
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/Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts	CA412941713	rs_1557083830	2 SubmittersRCV000627053
NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp)	SNV Germline	Chr22:38123251	Pathogenic/Likely pathogenic	Infantile neuroaxonal dystrophy Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA411528216	rs_1235695530	4 SubmittersRCV000634962 RCV004588062 RCV005431830
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	CA412942297	rs_782557596	3 SubmittersRCV000657778 RCV000735636
NM_022089.4(ATP13A2):c.477+2T>G	SNV Germline	Chr1:17004690	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA637638	rs_758014228	9 SubmittersRCV000658500 RCV002317906 RCV000702718 RCV001269095
NM_003560.4(PLA2G6):c.1592-2A>C	SNV Germline	Chr22:38120911	Pathogenic/Likely pathogenic	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Inborn genetic diseases Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Multiple Submitters No Conflicts	CA411527755	rs_1465629909	5 SubmittersRCV000680069 RCV002531410 RCV004026159 RCV005027834
NM_003560.4(PLA2G6):c.1039G>A (p.Gly347Arg)	SNV Germline	Chr22:38132869	Pathogenic/Likely pathogenic	Infantile neuroaxonal dystrophy Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA411530689	rs_1569263730	4 SubmittersRCV000680067 RCV005253064 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	CA412942569	rs_1557083958	4 SubmittersRCV000695691 RCV001585635
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp)	SNV Germline	Chr22:38145538	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Condition: not provided PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Conflicting Classifications	CA10231294	rs_142530390	5 SubmittersRCV001085110 RCV000712686 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	CA399618733	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 Neurodegeneration with brain iron accumulation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9351931	rs_752450983	6 SubmittersRCV000754614 RCV000821485 RCV002271579 RCV001544960
NM_031448.6(C19orf12):c.-10G>C	SNV Germline	Chr19:29708423	Pathogenic	Neurodegeneration with brain iron accumulation 4	No Assertion Criteria Provided	CA405146041	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	CA412949588	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	CA412949480	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	CA10408455	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	CA913190922	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 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA4024014	rs_140387177	3 SubmittersRCV000791049 RCV004027383 RCV001869246
NM_025233.7(COASY):c.876T>A (p.Tyr292Ter)	SNV Germline	Chr17:42564136	Pathogenic	Neurodegeneration with brain iron accumulation 6	Criteria Provided Single Submitter	CA399595783	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	CA412941290	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	CA412941472	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	CA10408484	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	CA10408541	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	CA412945586	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	CA412949463	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	CA412945038	rs_1602538148	1 SubmittersRCV000816156
NM_001029896.2(WDR45):c.437-1G>A	SNV Germline	ChrX:49075946	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts	CA412945578	rs_1602538372	2 SubmittersRCV000825010
NM_001029896.2(WDR45):c.342-2A>C	SNV Germline	ChrX:49076526	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter	CA412946549	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	CA290771340	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	CA8578063	rs_143964295	3 SubmittersRCV000945755 RCV001779094 RCV003925855
NM_003560.4(PLA2G6):c.510G>A (p.Glu170=)	SNV Germline	Chr22:38143204	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Conflicting Classifications	CA10231239	rs_751696120	2 SubmittersRCV000911443 RCV005392541
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu)	SNV Germline	Chr22:38116176	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Inborn genetic diseases Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 PLA2G6-associated neurodegeneration	Criteria Provided Conflicting Classifications	CA411525730	rs_1451486649	5 SubmittersRCV000990441 RCV004030118 RCV005029547 RCV002549744
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln)	SNV Germline	Chr22:38116182	Pathogenic/Likely pathogenic	Infantile neuroaxonal dystrophy Condition: not provided Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA10230719	rs_776713955	7 SubmittersRCV000990442 RCV001092012 RCV005036260 RCV004689945
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)	SNV Germline	Chr22:38123191	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration PLA2G6-related disorder Neurodegeneration with brain iron accumulation Condition: not provided Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Conflicting Classifications	CA10230816	rs_141045127	7 SubmittersRCV000990444 RCV002550617 RCV003411932 RCV004702560 RCV004822278 RCV005029548
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	CA412942567	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	CA412948991	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	CA412949176	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	CA412943588	rs_1602537958	4 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 Pontocerebellar hypoplasia, type 12 Neurodegeneration with brain iron accumulation 6	Criteria Provided Conflicting Classifications	CA8578226	rs_770235902	3 SubmittersRCV000996555 RCV003486952 RCV005359733
NM_003560.4(PLA2G6):c.1612C>A (p.Arg538Ser)	SNV Germline	Chr22:38120889	Conflicting classifications of pathogenicity	Condition: not provided not specified Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Conflicting Classifications	CA411527652	rs_370691849	3 SubmittersRCV000997927 RCV004689949 RCV005029557
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	CA915951117	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	CA412949143	rs_1602540295	1 SubmittersRCV001004757
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile)	SNV Germline	Chr22:38126371	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Condition: not provided PLA2G6-associated neurodegeneration Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10230871	rs_146684391	6 SubmittersRCV001046693 RCV002260678 RCV001144630 RCV002481926 RCV002553151
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro)	SNV Germline	Chr22:38132847	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Autosomal recessive Parkinson disease 14 not specified Neurodegeneration with brain iron accumulation 2B	Criteria Provided Conflicting Classifications	CA411530640	rs_1403125636	4 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 Condition: not provided Autosomal recessive Parkinson disease 14 Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy Autosomal recessive Parkinson disease 14 Neurodegeneration with brain iron accumulation 2B	Criteria Provided Conflicting Classifications	CA10231083	rs_149653983	9 SubmittersRCV001050461 RCV001147487 RCV001585947 RCV001542714 RCV005418966 RCV004768816 RCV005036337
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	CA412949114	rs_2065045650	1 SubmittersRCV001042261
NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys)	SNV Germline	ChrX:49077695	Conflicting classifications of pathogenicity	Condition: not provided Neurodegeneration with brain iron accumulation 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA412949149	rs_2065045729	5 SubmittersRCV001091505 RCV001052749 RCV002409441
NM_001029896.2(WDR45):c.235+1G>A	SNV Germline	ChrX:49077642	Pathogenic	Condition: not provided Neurodegeneration with brain iron accumulation 5	Criteria Provided Multiple Submitters No Conflicts	CA412949000	rs_2065045269	3 SubmittersRCV001091504 RCV001214756
NM_003560.4(PLA2G6):c.610-1G>T	SNV Germline	Chr22:38140170	Pathogenic/Likely pathogenic	PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Multiple Submitters No Conflicts	CA411531642	rs_1223788672	3 SubmittersRCV001195284 RCV005094042 RCV005029740
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	CA412949568	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	CA412941470	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	CA1139667517	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	CA412944294	rs_2065032542	1 SubmittersRCV001235930
NM_001029896.2(WDR45):c.326G>A (p.Arg109His)	SNV Germline	ChrX:49076660	Conflicting classifications of pathogenicity	Inborn genetic diseases Neurodegeneration with brain iron accumulation 5	Criteria Provided Conflicting Classifications	CA10408569	rs_782329150	2 SubmittersRCV002322129 RCV001236016
NM_003560.4(PLA2G6):c.1742+2T>G	SNV Germline	Chr22:38120757	Likely pathogenic	Neurodegeneration with brain iron accumulation 2B	Criteria Provided Single Submitter	CA411527061	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	CA412942328	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	CA412945318	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	CA412949591	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	CA411529025	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	CA411530724	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	CA8578061	rs_756141692	3 SubmittersRCV001308086 RCV002252359 RCV004762065
NM_001029896.2(WDR45):c.974-2A>G	SNV Germline	ChrX:49074914	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter	CA412941719	rs_2065027151	1 SubmittersRCV001323126
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter)	SNV Germline	Chr22:38115628	Pathogenic	Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Multiple Submitters No Conflicts	CA411524782	rs_1484455290	5 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	CA2428490713	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	CA412949042	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 Inborn genetic diseases Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10408496	rs_192312429	4 SubmittersRCV001418046 RCV002350808 RCV001664868 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	CA10408570	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	CA10230542	rs_373493102	2 SubmittersRCV001532992 RCV002568913
NM_003560.4(PLA2G6):c.1893G>A (p.Trp631Ter)	SNV Germline	Chr22:38115668	Pathogenic/Likely pathogenic	Abnormality of the nervous system Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Multiple Submitters No Conflicts	CA411524861	rs_2145683127	2 SubmittersRCV001814543 RCV005023187
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	CA412943017	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 Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10230715	rs_368008077	5 SubmittersRCV001561435 RCV002266002 RCV002569014 RCV005038262 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	CA2499226758	rs_1057521933	2 SubmittersRCV001562896 RCV002568421
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser)	SNV Germline	Chr22:38115604	Conflicting classifications of pathogenicity	PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10230668	rs_754204295	4 SubmittersRCV002543909 RCV003507383 RCV005432779 RCV002243455
NM_003560.4(PLA2G6):c.2234G>A (p.Arg745Gln)	SNV Germline	Chr22:38112546	Conflicting classifications of pathogenicity	Condition: not provided Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Conflicting Classifications	CA10230569	rs_368514303	3 SubmittersRCV001771162 RCV001868610 RCV002489804
NM_003560.4(PLA2G6):c.1912G>A (p.Gly638Arg)	SNV Germline	Chr22:38115649	Likely pathogenic	PLA2G6-associated neurodegeneration Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA324183492	rs_1000303487	3 SubmittersRCV002541208 RCV005038323 RCV001782646
NM_001029896.2(WDR45):c.828-2A>C	SNV Germline	ChrX:49075283	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter	CA412942544	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	CA2573055349	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	CA412949277	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	CA10231190	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 Neurodegeneration with brain iron accumulation 6 Pontocerebellar hypoplasia, type 12 Condition: not provided	Criteria Provided Conflicting Classifications	CA8578165	rs_139742477	4 SubmittersRCV001975987 RCV005016985 RCV003146427
NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr)	SNV Germline	Chr22:38112241	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Conflicting Classifications	CA10230535	rs_139093920	3 SubmittersRCV001958907 RCV002569151 RCV005032024
NM_001029896.2(WDR45):c.236-21A>G	SNV Germline	ChrX:49076771	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter	CA412948731	rs_2147816654	1 SubmittersRCV002003820
NM_001029896.2(WDR45):c.1051T>C (p.Tyr351His)	SNV Germline	ChrX:49074835	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA412941200	rs_2147814409	2 SubmittersRCV002045511 RCV005251310
NM_025233.7(COASY):c.1567C>T (p.Gln523Ter)	SNV Germline	Chr17:42565740	Pathogenic	Neurodegeneration with brain iron accumulation 6 COASY-Related Disorders	Criteria Provided Multiple Submitters No Conflicts	CA8578397	rs_374709763	2 SubmittersRCV001900249 RCV005409060
NM_003560.4(PLA2G6):c.1849G>A (p.Val617Ile)	SNV Germline	Chr22:38116105	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Condition: not provided Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10230702	rs_139579057	5 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	CA10408447	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	CA412943297	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	CA412949578	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	CA411530626	rs_2145770192	2 SubmittersRCV002250245 RCV004594627
NM_001029896.2(WDR45):c.785A>C (p.His262Pro)	SNV Germline	ChrX:49075406	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA412942817	rs_2147815135	2 SubmittersRCV002246816 RCV005409868
NM_001029896.2(WDR45):c.130+1G>C	SNV Germline	ChrX:49077836	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter	CA412949280	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	CA412949589	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 PLA2G6-associated neurodegeneration Neurodegeneration with brain iron accumulation 2B Neurodegeneration with brain iron accumulation Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10231192	rs_776753796	5 SubmittersRCV002275547 RCV003096214 RCV003339949 RCV003403769 RCV003096213
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)	SNV Germline	Chr22:38112529	Conflicting classifications of pathogenicity	PLA2G6-associated neurodegeneration Neurodegeneration with brain iron accumulation Infantile neuroaxonal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA411523338	rs_1296348337	4 SubmittersRCV003041414 RCV003324065 RCV003050582 RCV003223766
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	CA399617077	rs_1435541208	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	CA412942541	rs_2147814944	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 Pontocerebellar hypoplasia, type 12 Neurodegeneration with brain iron accumulation 6	Criteria Provided Multiple Submitters No Conflicts	CA290772063	rs_566973741	3 SubmittersRCV002913001 RCV004593094 RCV005019445
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)	SNV Germline	Chr1:17000466	Pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Neurodegeneration with brain iron accumulation Kufor-Rakeb syndrome	Criteria Provided Multiple Submitters No Conflicts	CA338258539	rs_1334843918	3 SubmittersRCV002913788 RCV003111604 RCV004765595
NM_025233.7(COASY):c.1388-2A>G	SNV Germline	Chr17:42565469	Likely pathogenic	Neurodegeneration with brain iron accumulation 6 Neurodegeneration with brain iron accumulation 6 Pontocerebellar hypoplasia, type 12 COASY-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8578322	rs_145108650	4 SubmittersRCV002937500 RCV005019463 RCV003395537 RCV004790277
NM_025233.7(COASY):c.1112A>G (p.Lys371Arg)	SNV Germline	Chr17:42564773	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 6 COASY-Related Disorders Lipid storage myopathy	Criteria Provided Conflicting Classifications	CA8578204	rs_374448845	3 SubmittersRCV002909479 RCV005239538 RCV003317626
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	CA8578205	rs_747577673	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	CA399599598	rs_2093001133	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	CA399596216	rs_2092992348	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	CA412941993	rs_2520260202	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	CA2580101075	rs_1557083956	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	CA412949279	rs_2147817628	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	CA412943996	rs_2520261481	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	CA412945580	rs_886041693	1 SubmittersRCV003152840
NM_003560.4(PLA2G6):c.1743-2A>G	SNV Germline	Chr22:38116213	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation Infantile neuroaxonal dystrophy Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Multiple Submitters No Conflicts	CA411525858	rs_2087184707	3 SubmittersRCV003226742 RCV003507490 RCV005036703
NM_022089.4(ATP13A2):c.1600C>T (p.Gln534Ter)	SNV Germline	Chr1:16993778	Likely pathogenic	Neurodegeneration with brain iron accumulation	Criteria Provided Single Submitter	CA338248867	rs_1412349209	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	CA2580617042	rs_2520262051	1 SubmittersRCV003311579
NM_003560.4(PLA2G6):c.1186+1G>T	SNV Germline	Chr22:38129453	Pathogenic/Likely pathogenic	Condition: not provided Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA411530356	rs_761815070	3 SubmittersRCV003332481 RCV005029988 RCV003777400
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	CA411531241	rs_2518041104	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	CA412943799	rs_2520261432	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	CA399617900	rs_1475720319	1 SubmittersRCV003583423
NM_003560.4(PLA2G6):c.1982C>T (p.Thr661Met)	SNV Germline	Chr22:38115579	Pathogenic	Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Multiple Submitters No Conflicts	CA10230663	rs_767689496	3 SubmittersRCV003508541 RCV005036867
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	CA412941988	rs_2520260197	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	CA412949148	rs_2065045729	1 SubmittersRCV003735129
NM_001029896.2(WDR45):c.708C>G (p.Asp236Glu)	SNV Germline	ChrX:49075562	Conflicting classifications of pathogenicity	Inborn genetic diseases Neurodegeneration with brain iron accumulation 5	Criteria Provided Conflicting Classifications	CA412943472	rs_2520261326	2 SubmittersRCV005289011 RCV003735121
NM_001029896.2(WDR45):c.626C>G (p.Ser209Ter)	SNV Germline	ChrX:49075644	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter	CA412944110	rs_2520261521	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	CA412943755	rs_2520261407	1 SubmittersRCV003735260
NM_003560.4(PLA2G6):c.1078-1G>A	SNV Germline	Chr22:38129563	Likely pathogenic	Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy Autosomal recessive Parkinson disease 14	Criteria Provided Multiple Submitters No Conflicts	CA411530596	rs_2088081974	2 SubmittersRCV003617282 RCV005030236
NM_001029896.2(WDR45):c.725+2T>A	SNV Unknown	ChrX:49075543	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter	CA412943294	rs_2520261283	1 SubmittersRCV003985185
NM_003560.4(PLA2G6):c.1772G>T (p.Arg591Leu)	SNV Germline	Chr22:38116182	Conflicting classifications of pathogenicity	not specified Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Conflicting Classifications	CA411525741	rs_776713955	2 SubmittersRCV004527204 RCV005038703
NM_003560.4(PLA2G6):c.609+2T>C	SNV Germline	Chr22:38143103	Likely pathogenic	Neurodegeneration with brain iron accumulation 2B	Criteria Provided Single Submitter	CA411531649	rs_2518055647	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_001029896.2(WDR45):c.437G>A (p.Gly146Glu)	SNV Germline	ChrX:49075945	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV004759664
NM_031448.6(C19orf12):c.139G>A (p.Gly47Ser)	SNV Unknown	Chr19:29708275	Pathogenic	Neurodegeneration with brain iron accumulation 4	Criteria Provided Single Submitter			1 SubmittersRCV005255521
NM_031448.6(C19orf12):c.-10-1G>A	SNV Unknown	Chr19:29708424	Likely pathogenic	Neurodegeneration with brain iron accumulation 4	Criteria Provided Single Submitter			1 SubmittersRCV005255522
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_025233.7(COASY):c.1387+1G>A	SNV Germline	Chr17:42565312	Likely pathogenic	Pontocerebellar hypoplasia, type 12 Neurodegeneration with brain iron accumulation 6	Criteria Provided Single Submitter			1 SubmittersRCV005020240
NM_003560.4(PLA2G6):c.2266C>T (p.Gln756Ter)	SNV Germline	Chr22:38112514	Likely pathogenic	Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Single Submitter			1 SubmittersRCV005029389
NM_003560.4(PLA2G6):c.985C>T (p.Arg329Cys)	SNV Germline	Chr22:38132923	Likely pathogenic	Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Single Submitter			1 SubmittersRCV005032845
NM_003560.4(PLA2G6):c.210-1G>A	SNV Germline	Chr22:38145654	Likely pathogenic	Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Single Submitter			1 SubmittersRCV005032847
NM_000096.4(CP):c.2122G>A (p.Gly708Ser)	SNV Germline	Chr3:149185402	Pathogenic	Neurodegeneration with brain iron accumulation	Criteria Provided Single Submitter			1 SubmittersRCV005087656
NM_001029896.2(WDR45):c.563T>A (p.Ile188Asn)	SNV Germline	ChrX:49075707	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV005129509
NM_001029896.2(WDR45):c.981C>A (p.Cys327Ter)	SNV Germline	ChrX:49074905	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV005133625
NM_001029896.2(WDR45):c.516+5G>T	SNV Germline	ChrX:49075861	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV005138571
NM_031448.6(C19orf12):c.211A>T (p.Lys71Ter)	SNV Germline	Chr19:29702927	Pathogenic	Neurodegeneration with brain iron accumulation 4	Criteria Provided Single Submitter			1 SubmittersRCV005411067
NM_031448.6(C19orf12):c.262C>T (p.Leu88Phe)	SNV Germline	Chr19:29702876	Likely pathogenic	Neurodegeneration with brain iron accumulation 4	Criteria Provided Single Submitter			1 SubmittersRCV005411069
NM_001029896.2(WDR45):c.563T>G (p.Ile188Ser)	SNV Germline	ChrX:49075707	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV005411072
NM_001029896.2(WDR45):c.56-1G>A	SNV Germline	ChrX:49077912	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV005411074
NM_001029896.2(WDR45):c.698G>T (p.Arg233Leu)	SNV Germline	ChrX:49075572	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV005411076
NM_001029896.2(WDR45):c.409G>T (p.Glu137Ter)	SNV Germline	ChrX:49076457	Pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV005411078
NM_001029896.2(WDR45):c.701G>A (p.Gly234Asp)	SNV Germline	ChrX:49075569	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV005411079
NM_003560.4(PLA2G6):c.1077+1G>A	SNV Germline	Chr22:38132830	Pathogenic	Neurodegeneration with brain iron accumulation 2B	Criteria Provided Single Submitter			1 SubmittersRCV005411089
NM_031448.6(C19orf12):c.271G>T (p.Glu91Ter)	SNV Germline	Chr19:29702867	Pathogenic	Neurodegeneration with brain iron accumulation 4	Criteria Provided Single Submitter			1 SubmittersRCV005411092
NM_001029896.2(WDR45):c.499G>A (p.Gly167Arg)	SNV Unknown	ChrX:49075883	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	Criteria Provided Single Submitter			1 SubmittersRCV005416145

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

SNV
Germline

Chr1:16996008

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251716

rs_121918227

6 SubmittersRCV000001280 RCV001851533 RCV002251851 RCV004766975

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

SNV
Germline

Chr22:38112212

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA173265

rs_121908680

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

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

SNV
Germline

Chr22:38120867

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253793

rs_121908681

4 SubmittersRCV000006573 RCV001003639 RCV003319301 RCV001542712

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

SNV
Germline

Chr22:38115667

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA118062

rs_121908683

7 SubmittersRCV000006576 RCV001582469 RCV001092011 RCV002512836 RCV005031400 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
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
PLA2G6-associated neurodegeneration
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253795

rs_121908685

7 SubmittersRCV000006580 RCV000535771 RCV000660638 RCV002512839 RCV001540404

NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)

SNV
Germline

Chr22:38112558

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253797

rs_121908686

13 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
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA253798

rs_121908687

8 SubmittersRCV000006582 RCV000763482 RCV001268312 RCV002512840 RCV003507246

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

SNV
Germline

Chr22:38115657

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA259782

rs_387906863

5 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
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14

Criteria Provided
Multiple Submitters
No Conflicts

CA173198

rs_200075782

10 SubmittersRCV000023318 RCV000147282 RCV000255026 RCV002513187 RCV003105777 RCV005031452

NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr)

SNV
Germline

Chr22:38132917

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA259786

rs_199935023

8 SubmittersRCV000498427 RCV000023319 RCV001852019 RCV005025079 RCV002513188

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

SNV
Germline

Chr16:74727290

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA259930

rs_387907040

6 SubmittersRCV000023857 RCV000483483 RCV003317044 RCV002513207

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
Hereditary spastic paraplegia 43
Neurodegeneration with brain iron accumulation 4

Criteria Provided
Multiple Submitters
No Conflicts

CA342784

rs_397514477

14 SubmittersRCV000024152 RCV000426086 RCV001004003 RCV003743545 RCV004700277 RCV005016294

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

SNV
Germline

Chr19:29702966

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345637

rs_515726205

10 SubmittersRCV000024153 RCV000414809 RCV000528859 RCV001781312 RCV005016295 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
Mental deterioration
Adult-onset night blindness
Peripheral visual field loss
Tremor
Condition: not provided
Hereditary spastic paraplegia 43
Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 5A
Hereditary spastic paraplegia 43
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA259994

rs_146170087

15 SubmittersRCV000024154 RCV000415210 RCV000553096 RCV000509226 RCV000714889 RCV001083182 RCV001844017 RCV001847623

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
Condition: not provided
6 conditions
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA214837

rs_387907329

11 SubmittersRCV000034829 RCV000254714 RCV000415276 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_000096.4(CP):c.1049C>A (p.Ala350Asp)

SNV
Germline

Chr3:149206327

Likely pathogenic

Deficiency of ferroxidase
Neurodegeneration with brain iron accumulation

Criteria Provided
Single Submitter

CA344477

rs_386134127

2 SubmittersRCV000034876 RCV005237457

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

SNV
Germline

Chr19:29708260

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA145387

rs_376103979

8 SubmittersRCV000074453 RCV000074454 RCV000493663 RCV005025116

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

Likely pathogenic

Condition: not provided
Neurodegeneration with brain iron accumulation
Deficiency of ferroxidase

Criteria Provided
Multiple Submitters
No Conflicts

CA231060

rs_587780321

3 SubmittersRCV000116824 RCV004586553 RCV005031613

NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp)

SNV
Germline

Chr22:38112547

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA173258

rs_587784350

4 SubmittersRCV000147317 RCV000985141 RCV003507259 RCV003883135

NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)

SNV
Germline

Chr22:38112565

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA173256

rs_587784349

8 SubmittersRCV000147316 RCV000254887 RCV000778662 RCV000793778 RCV005031652 RCV002515980

NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter)

SNV
Germline

Chr22:38113591

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA173251

rs_587784346

6 SubmittersRCV000147313 RCV001781485 RCV002515978 RCV005031651 RCV003507258

NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter)

SNV
Germline

Chr22:38115658

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA173235

rs_587784339

9 SubmittersRCV000147304 RCV000313731 RCV000600346 RCV000680170 RCV005025226

NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)

SNV
Germline

Chr22:38116155

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA173233

rs_149712244

13 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
Neurodegeneration with brain iron accumulation
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA173221

rs_121908681

4 SubmittersRCV000147296 RCV003330510 RCV003507257 RCV002514834

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

SNV
Germline

Chr22:38120886

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA173219

rs_143826762

8 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
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
PLA2G6-associated neurodegeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA173217

rs_535486098

5 SubmittersRCV000147294 RCV000412963 RCV001849993 RCV001823117 RCV002514833

NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)

SNV
Germline

Chr22:38123185

Conflicting classifications of pathogenicity

Iron accumulation in brain
Infantile neuroaxonal dystrophy
not specified
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Conflicting Classifications

CA173208

rs_587784332

5 SubmittersRCV000147288 RCV000679861 RCV002469025 RCV005025225

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.1117G>A (p.Gly373Arg)

SNV
Germline

Chr22:38129523

Pathogenic/Likely pathogenic

Iron accumulation in brain
Infantile neuroaxonal dystrophy
Inborn genetic diseases
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA173200

rs_587784327

5 SubmittersRCV000147283 RCV000199765 RCV001266410 RCV005025224

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

SNV
Germline

Chr22:38132850

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA173194

rs_587784326

7 SubmittersRCV000147280 RCV002515975 RCV004546439 RCV001364740 RCV004796044 RCV005237579 RCV005452947

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

SNV
Germline

Chr22:38145477

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA173270

rs_374746113

10 SubmittersRCV000147324 RCV000414098 RCV000623680 RCV004700468 RCV001270755 RCV002515981 RCV005031653

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

SNV
Germline

Chr19:29708290

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA186055

rs_200133991

6 SubmittersRCV000162119 RCV000516097 RCV000292174 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA206368

rs_797046101

11 SubmittersRCV000413483 RCV000679876 RCV000477948 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
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10231094

rs_528966598

6 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
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
PLA2G6-associated neurodegeneration
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA10230570

rs_530348521

7 SubmittersRCV000255821 RCV000853336 RCV002494803 RCV002521855 RCV002282096 RCV002470830

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

SNV
Germline

Chr22:38169219

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10588727

rs_886039552

3 SubmittersRCV000255422 RCV004767205 RCV001205763

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

SNV
Germline

ChrX:49075363

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10588789

rs_1557083958

11 SubmittersRCV000255829 RCV000578469 RCV000845069

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

SNV
Germline

Chr22:38132831

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603512

rs_368497893

5 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_001029896.2(WDR45):c.437-2A>G

SNV
Germline

ChrX:49075947

Pathogenic

Condition: not provided
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10603676

rs_886041693

2 SubmittersRCV000380857 RCV005090332

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

SNV
Germline

Chr19:29702825

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9351885

rs_146492790

9 SubmittersRCV000304840 RCV000468820 RCV001848060 RCV001126321 RCV003323494

NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr)

SNV
Germline

Chr22:38145597

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10231302

rs_142715413

5 SubmittersRCV000305035 RCV000487773 RCV001473715 RCV005398468

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

SNV
Germline

Chr22:38169326

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10231376

rs_147948449

7 SubmittersRCV000362034 RCV000512651 RCV000765652 RCV000518740 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
Condition: not provided
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
PLA2G6-associated neurodegeneration
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10231378

rs_150024227

9 SubmittersRCV000260236 RCV000762074 RCV000765653 RCV001094773 RCV002523229

NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln)

SNV
Germline

Chr22:38169218

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10231350

rs_11570607

5 SubmittersRCV000416070 RCV001865303 RCV001144722 RCV001643138 RCV005398506

NM_000096.4(CP):c.1948G>A (p.Gly650Arg)

SNV
Germline

Chr3:149186649

Pathogenic/Likely pathogenic

Condition: not provided
Deficiency of ferroxidase
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA2660874

rs_776936158

5 SubmittersRCV000425954 RCV000504529 RCV005055965

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_003560.4(PLA2G6):c.1501G>A (p.Glu501Lys)

SNV
Germline

Chr22:38123185

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16609098

rs_587784332

3 SubmittersRCV000425006 RCV005398519

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9351930

rs_752450983

3 SubmittersRCV000454138 RCV000486662 RCV001095481

NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His)

SNV
Germline

Chr22:38113560

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10230599

rs_147455037

6 SubmittersRCV000454205 RCV001550736 RCV000804046 RCV005027496 RCV002526373

NM_003560.4(PLA2G6):c.1640A>G (p.Glu547Gly)

SNV
Germline

Chr22:38120861

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16609546

rs_1060499764

3 SubmittersRCV000454298 RCV001808827 RCV005027497

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
Hereditary spastic paraplegia 35

Criteria Provided
Multiple Submitters
No Conflicts

CA16615007

rs_372350326

6 SubmittersRCV000466731 RCV000622305 RCV002248676 RCV004579546 RCV005018763

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

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

Criteria Provided
Conflicting Classifications

CA10231275

rs_141825182

8 SubmittersRCV001083799 RCV001150840 RCV000585504 RCV000765651 RCV004999527 RCV003925420

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
PLA2G6-associated neurodegeneration

Criteria Provided
Conflicting Classifications

CA411527942

rs_1555988382

6 SubmittersRCV000502668 RCV001329713 RCV003403171 RCV003441899 RCV005411461

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

Spastic paraplegia
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA283770000

rs_915291720

2 SubmittersRCV000555976 RCV002265790

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
Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Conflicting Classifications

CA5275561

rs_138665095

5 SubmittersRCV000594657 RCV002531113 RCV000709992

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4024478

rs_201191394

3 SubmittersRCV000595242 RCV005091580 RCV000709993

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

SNV
Germline

Chr19:29702961

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9351922

rs_768063881

4 SubmittersRCV000602670 RCV001457687 RCV001126322 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_000096.4(CP):c.583G>A (p.Gly195Arg)

SNV
Germline

Chr3:149210191

Likely pathogenic

Deficiency of ferroxidase
Inborn genetic diseases
Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA2661289

rs_750451693

4 SubmittersRCV000809524 RCV000624072 RCV001584450 RCV005431812

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/Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

CA412941713

rs_1557083830

2 SubmittersRCV000627053

NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp)

SNV
Germline

Chr22:38123251

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA411528216

rs_1235695530

4 SubmittersRCV000634962 RCV004588062 RCV005431830

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

CA412942297

rs_782557596

3 SubmittersRCV000657778 RCV000735636

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

SNV
Germline

Chr1:17004690

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA637638

rs_758014228

9 SubmittersRCV000658500 RCV002317906 RCV000702718 RCV001269095

NM_003560.4(PLA2G6):c.1592-2A>C

SNV
Germline

Chr22:38120911

Pathogenic/Likely pathogenic

Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Inborn genetic diseases
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14

Criteria Provided
Multiple Submitters
No Conflicts

CA411527755

rs_1465629909

5 SubmittersRCV000680069 RCV002531410 RCV004026159 RCV005027834

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

SNV
Germline

Chr22:38132869

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA411530689

rs_1569263730

4 SubmittersRCV000680067 RCV005253064 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

CA412942569

rs_1557083958

4 SubmittersRCV000695691 RCV001585635

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

SNV
Germline

Chr22:38145538

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10231294

rs_142530390

5 SubmittersRCV001085110 RCV000712686 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

CA399618733

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
Neurodegeneration with brain iron accumulation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9351931

rs_752450983

6 SubmittersRCV000754614 RCV000821485 RCV002271579 RCV001544960

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

SNV
Germline

Chr19:29708423

Pathogenic

Neurodegeneration with brain iron accumulation 4

No Assertion Criteria Provided

CA405146041

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

CA412949588

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

CA412949480

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

CA10408455

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

CA913190922

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
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4024014

rs_140387177

3 SubmittersRCV000791049 RCV004027383 RCV001869246

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

SNV
Germline

Chr17:42564136

Pathogenic

Neurodegeneration with brain iron accumulation 6

Criteria Provided
Single Submitter

CA399595783

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

CA412941290

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

CA412941472

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

CA10408484

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

CA10408541

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

CA412945586

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

CA412949463

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

CA412945038

rs_1602538148

1 SubmittersRCV000816156

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

SNV
Germline

ChrX:49075946

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

CA412945578

rs_1602538372

2 SubmittersRCV000825010

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

SNV
Germline

ChrX:49076526

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

CA412946549

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

CA290771340

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

CA8578063

rs_143964295

3 SubmittersRCV000945755 RCV001779094 RCV003925855

NM_003560.4(PLA2G6):c.510G>A (p.Glu170=)

SNV
Germline

Chr22:38143204

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10231239

rs_751696120

2 SubmittersRCV000911443 RCV005392541

NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu)

SNV
Germline

Chr22:38116176

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
Inborn genetic diseases
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14
PLA2G6-associated neurodegeneration

Criteria Provided
Conflicting Classifications

CA411525730

rs_1451486649

5 SubmittersRCV000990441 RCV004030118 RCV005029547 RCV002549744

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

SNV
Germline

Chr22:38116182

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10230719

rs_776713955

7 SubmittersRCV000990442 RCV001092012 RCV005036260 RCV004689945

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

SNV
Germline

Chr22:38123191

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10230816

rs_141045127

7 SubmittersRCV000990444 RCV002550617 RCV003411932 RCV004702560 RCV004822278 RCV005029548

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

CA412942567

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

CA412948991

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

CA412949176

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

CA412943588

rs_1602537958

4 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
Pontocerebellar hypoplasia, type 12
Neurodegeneration with brain iron accumulation 6

Criteria Provided
Conflicting Classifications

CA8578226

rs_770235902

3 SubmittersRCV000996555 RCV003486952 RCV005359733

NM_003560.4(PLA2G6):c.1612C>A (p.Arg538Ser)

SNV
Germline

Chr22:38120889

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA411527652

rs_370691849

3 SubmittersRCV000997927 RCV004689949 RCV005029557

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

CA915951117

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

CA412949143

rs_1602540295

1 SubmittersRCV001004757

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

SNV
Germline

Chr22:38126371

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10230871

rs_146684391

6 SubmittersRCV001046693 RCV002260678 RCV001144630 RCV002481926 RCV002553151

NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro)

SNV
Germline

Chr22:38132847

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
not specified
Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Conflicting Classifications

CA411530640

rs_1403125636

4 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
Condition: not provided
Autosomal recessive Parkinson disease 14
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy
Autosomal recessive Parkinson disease 14
Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Conflicting Classifications

CA10231083

rs_149653983

9 SubmittersRCV001050461 RCV001147487 RCV001585947 RCV001542714 RCV005418966 RCV004768816 RCV005036337

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

CA412949114

rs_2065045650

1 SubmittersRCV001042261

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

SNV
Germline

ChrX:49077695

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA412949149

rs_2065045729

5 SubmittersRCV001091505 RCV001052749 RCV002409441

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

SNV
Germline

ChrX:49077642

Pathogenic

Condition: not provided
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Multiple Submitters
No Conflicts

CA412949000

rs_2065045269

3 SubmittersRCV001091504 RCV001214756

NM_003560.4(PLA2G6):c.610-1G>T

SNV
Germline

Chr22:38140170

Pathogenic/Likely pathogenic

PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14

Criteria Provided
Multiple Submitters
No Conflicts

CA411531642

rs_1223788672

3 SubmittersRCV001195284 RCV005094042 RCV005029740

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

CA412949568

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

CA412941470

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

CA1139667517

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

CA412944294

rs_2065032542

1 SubmittersRCV001235930

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

SNV
Germline

ChrX:49076660

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Conflicting Classifications

CA10408569

rs_782329150

2 SubmittersRCV002322129 RCV001236016

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

SNV
Germline

Chr22:38120757

Likely pathogenic

Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Single Submitter

CA411527061

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

CA412942328

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

CA412945318

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

CA412949591

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

CA411529025

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

CA411530724

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

CA8578061

rs_756141692

3 SubmittersRCV001308086 RCV002252359 RCV004762065

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

SNV
Germline

ChrX:49074914

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

CA412941719

rs_2065027151

1 SubmittersRCV001323126

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

SNV
Germline

Chr22:38115628

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA411524782

rs_1484455290

5 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

CA2428490713

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

CA412949042

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
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10408496

rs_192312429

4 SubmittersRCV001418046 RCV002350808 RCV001664868 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

CA10408570

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

CA10230542

rs_373493102

2 SubmittersRCV001532992 RCV002568913

NM_003560.4(PLA2G6):c.1893G>A (p.Trp631Ter)

SNV
Germline

Chr22:38115668

Pathogenic/Likely pathogenic

Abnormality of the nervous system
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA411524861

rs_2145683127

2 SubmittersRCV001814543 RCV005023187

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

CA412943017

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10230715

rs_368008077

5 SubmittersRCV001561435 RCV002266002 RCV002569014 RCV005038262 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

CA2499226758

rs_1057521933

2 SubmittersRCV001562896 RCV002568421

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

SNV
Germline

Chr22:38115604

Conflicting classifications of pathogenicity

PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation 2B
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10230668

rs_754204295

4 SubmittersRCV002543909 RCV003507383 RCV005432779 RCV002243455

NM_003560.4(PLA2G6):c.2234G>A (p.Arg745Gln)

SNV
Germline

Chr22:38112546

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10230569

rs_368514303

3 SubmittersRCV001771162 RCV001868610 RCV002489804

NM_003560.4(PLA2G6):c.1912G>A (p.Gly638Arg)

SNV
Germline

Chr22:38115649

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA324183492

rs_1000303487

3 SubmittersRCV002541208 RCV005038323 RCV001782646

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

SNV
Germline

ChrX:49075283

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

CA412942544

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

CA2573055349

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

CA412949277

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

CA10231190

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
Neurodegeneration with brain iron accumulation 6
Pontocerebellar hypoplasia, type 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8578165

rs_139742477

4 SubmittersRCV001975987 RCV005016985 RCV003146427

NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr)

SNV
Germline

Chr22:38112241

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14

Criteria Provided
Conflicting Classifications

CA10230535

rs_139093920

3 SubmittersRCV001958907 RCV002569151 RCV005032024

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

SNV
Germline

ChrX:49076771

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

CA412948731

rs_2147816654

1 SubmittersRCV002003820

NM_001029896.2(WDR45):c.1051T>C (p.Tyr351His)

SNV
Germline

ChrX:49074835

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412941200

rs_2147814409

2 SubmittersRCV002045511 RCV005251310

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

SNV
Germline

Chr17:42565740

Pathogenic

Neurodegeneration with brain iron accumulation 6
COASY-Related Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA8578397

rs_374709763

2 SubmittersRCV001900249 RCV005409060

NM_003560.4(PLA2G6):c.1849G>A (p.Val617Ile)

SNV
Germline

Chr22:38116105

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10230702

rs_139579057

5 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

CA10408447

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

CA412943297

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

CA412949578

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

CA411530626

rs_2145770192

2 SubmittersRCV002250245 RCV004594627

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

SNV
Germline

ChrX:49075406

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412942817

rs_2147815135

2 SubmittersRCV002246816 RCV005409868

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

SNV
Germline

ChrX:49077836

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

CA412949280

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

CA412949589

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
PLA2G6-associated neurodegeneration
Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10231192

rs_776753796

5 SubmittersRCV002275547 RCV003096214 RCV003339949 RCV003403769 RCV003096213

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

SNV
Germline

Chr22:38112529

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA411523338

rs_1296348337

4 SubmittersRCV003041414 RCV003324065 RCV003050582 RCV003223766

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

CA399617077

rs_1435541208

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

CA412942541

rs_2147814944

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
Pontocerebellar hypoplasia, type 12
Neurodegeneration with brain iron accumulation 6

Criteria Provided
Multiple Submitters
No Conflicts

CA290772063

rs_566973741

3 SubmittersRCV002913001 RCV004593094 RCV005019445

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

SNV
Germline

Chr1:17000466

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA338258539

rs_1334843918

3 SubmittersRCV002913788 RCV003111604 RCV004765595

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

SNV
Germline

Chr17:42565469

Likely pathogenic

Neurodegeneration with brain iron accumulation 6
Neurodegeneration with brain iron accumulation 6
Pontocerebellar hypoplasia, type 12
COASY-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8578322

rs_145108650

4 SubmittersRCV002937500 RCV005019463 RCV003395537 RCV004790277

NM_025233.7(COASY):c.1112A>G (p.Lys371Arg)

SNV
Germline

Chr17:42564773

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 6
COASY-Related Disorders
Lipid storage myopathy

Criteria Provided
Conflicting Classifications

CA8578204

rs_374448845

3 SubmittersRCV002909479 RCV005239538 RCV003317626

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

CA8578205

rs_747577673

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

CA399599598

rs_2093001133

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

CA399596216

rs_2092992348

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

CA412941993

rs_2520260202

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

CA2580101075

rs_1557083956

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

CA412949279

rs_2147817628

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

CA412943996

rs_2520261481

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

CA412945580

rs_886041693

1 SubmittersRCV003152840

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

SNV
Germline

Chr22:38116213

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA411525858

rs_2087184707

3 SubmittersRCV003226742 RCV003507490 RCV005036703

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

SNV
Germline

Chr1:16993778

Likely pathogenic

Neurodegeneration with brain iron accumulation

Criteria Provided
Single Submitter

CA338248867

rs_1412349209

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

CA2580617042

rs_2520262051

1 SubmittersRCV003311579

NM_003560.4(PLA2G6):c.1186+1G>T

SNV
Germline

Chr22:38129453

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA411530356

rs_761815070

3 SubmittersRCV003332481 RCV005029988 RCV003777400

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

CA411531241

rs_2518041104

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

CA412943799

rs_2520261432

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

CA399617900

rs_1475720319

1 SubmittersRCV003583423

NM_003560.4(PLA2G6):c.1982C>T (p.Thr661Met)

SNV
Germline

Chr22:38115579

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10230663

rs_767689496

3 SubmittersRCV003508541 RCV005036867

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

CA412941988

rs_2520260197

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

CA412949148

rs_2065045729

1 SubmittersRCV003735129

NM_001029896.2(WDR45):c.708C>G (p.Asp236Glu)

SNV
Germline

ChrX:49075562

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neurodegeneration with brain iron accumulation 5

Criteria Provided
Conflicting Classifications

CA412943472

rs_2520261326

2 SubmittersRCV005289011 RCV003735121

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

SNV
Germline

ChrX:49075644

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

CA412944110

rs_2520261521

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

CA412943755

rs_2520261407

1 SubmittersRCV003735260

NM_003560.4(PLA2G6):c.1078-1G>A

SNV
Germline

Chr22:38129563

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA411530596

rs_2088081974

2 SubmittersRCV003617282 RCV005030236

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

SNV
Unknown

ChrX:49075543

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

CA412943294

rs_2520261283

1 SubmittersRCV003985185

NM_003560.4(PLA2G6):c.1772G>T (p.Arg591Leu)

SNV
Germline

Chr22:38116182

Conflicting classifications of pathogenicity

not specified
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Autosomal recessive Parkinson disease 14

Criteria Provided
Conflicting Classifications

CA411525741

rs_776713955

2 SubmittersRCV004527204 RCV005038703

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

SNV
Germline

Chr22:38143103

Likely pathogenic

Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Single Submitter

CA411531649

rs_2518055647

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_001029896.2(WDR45):c.437G>A (p.Gly146Glu)

SNV
Germline

ChrX:49075945

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV004759664

NM_031448.6(C19orf12):c.139G>A (p.Gly47Ser)

SNV
Unknown

Chr19:29708275

Pathogenic

Neurodegeneration with brain iron accumulation 4

Criteria Provided
Single Submitter

1 SubmittersRCV005255521

NM_031448.6(C19orf12):c.-10-1G>A

SNV
Unknown

Chr19:29708424

Likely pathogenic

Neurodegeneration with brain iron accumulation 4

Criteria Provided
Single Submitter

1 SubmittersRCV005255522

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_025233.7(COASY):c.1387+1G>A

SNV
Germline

Chr17:42565312

Likely pathogenic

Pontocerebellar hypoplasia, type 12
Neurodegeneration with brain iron accumulation 6

Criteria Provided
Single Submitter

1 SubmittersRCV005020240

NM_003560.4(PLA2G6):c.2266C>T (p.Gln756Ter)

SNV
Germline

Chr22:38112514

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005029389

NM_003560.4(PLA2G6):c.985C>T (p.Arg329Cys)

SNV
Germline

Chr22:38132923

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005032845

NM_003560.4(PLA2G6):c.210-1G>A

SNV
Germline

Chr22:38145654

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005032847

NM_000096.4(CP):c.2122G>A (p.Gly708Ser)

SNV
Germline

Chr3:149185402

Pathogenic

Neurodegeneration with brain iron accumulation

Criteria Provided
Single Submitter

1 SubmittersRCV005087656

NM_001029896.2(WDR45):c.563T>A (p.Ile188Asn)

SNV
Germline

ChrX:49075707

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV005129509

NM_001029896.2(WDR45):c.981C>A (p.Cys327Ter)

SNV
Germline

ChrX:49074905

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV005133625

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

SNV
Germline

ChrX:49075861

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV005138571

NM_031448.6(C19orf12):c.211A>T (p.Lys71Ter)

SNV
Germline

Chr19:29702927

Pathogenic

Neurodegeneration with brain iron accumulation 4

Criteria Provided
Single Submitter

1 SubmittersRCV005411067

NM_031448.6(C19orf12):c.262C>T (p.Leu88Phe)

SNV
Germline

Chr19:29702876

Likely pathogenic

Neurodegeneration with brain iron accumulation 4

Criteria Provided
Single Submitter

1 SubmittersRCV005411069

NM_001029896.2(WDR45):c.563T>G (p.Ile188Ser)

SNV
Germline

ChrX:49075707

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV005411072

NM_001029896.2(WDR45):c.56-1G>A

SNV
Germline

ChrX:49077912

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV005411074

NM_001029896.2(WDR45):c.698G>T (p.Arg233Leu)

SNV
Germline

ChrX:49075572

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV005411076

NM_001029896.2(WDR45):c.409G>T (p.Glu137Ter)

SNV
Germline

ChrX:49076457

Pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV005411078

NM_001029896.2(WDR45):c.701G>A (p.Gly234Asp)

SNV
Germline

ChrX:49075569

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV005411079

NM_003560.4(PLA2G6):c.1077+1G>A

SNV
Germline

Chr22:38132830

Pathogenic

Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005411089

NM_031448.6(C19orf12):c.271G>T (p.Glu91Ter)

SNV
Germline

Chr19:29702867

Pathogenic

Neurodegeneration with brain iron accumulation 4

Criteria Provided
Single Submitter

1 SubmittersRCV005411092

NM_001029896.2(WDR45):c.499G>A (p.Gly167Arg)

SNV
Unknown

ChrX:49075883

Likely pathogenic

Neurodegeneration with brain iron accumulation 5

Criteria Provided
Single Submitter

1 SubmittersRCV005416145