Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	SNV Germline	Chr22:38112212	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Iron accumulation in brain Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B PLA2G6-associated neurodegeneration Neurodegeneration with brain iron accumulation 2B Autism Seizure Abnormality of the nervous system Neurodegeneration with brain iron accumulation PLA2G6-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA173265	rs_121908680	24 SubmittersRCV000006572 RCV000147321 RCV000763481 RCV000778661 RCV001333134 RCV001250474 RCV001813959 RCV002265549 RCV003407288 RCV000323935 RCV000623021
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu)	SNV Germline	Chr22:38132979	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration	Criteria Provided Conflicting Classifications	CA253794	rs_121908682	4 SubmittersRCV000006574 RCV002512835
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_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser)	SNV Germline	Chr22:38112534	Conflicting classifications of pathogenicity	Iron accumulation in brain Condition: not provided Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration not specified	Criteria Provided Conflicting Classifications	CA173260	rs_587784351	5 SubmittersRCV000147318 RCV000489829 RCV001849997 RCV005411351 RCV004689625
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.2128C>T (p.Arg710Cys)	SNV Germline	Chr22:38113561	Conflicting classifications of pathogenicity	Iron accumulation in brain Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration	Criteria Provided Conflicting Classifications	CA173253	rs_587784347	4 SubmittersRCV000147314 RCV000537119 RCV002515979
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.1978C>T (p.Pro660Ser)	SNV Germline	Chr22:38115583	Conflicting classifications of pathogenicity	Iron accumulation in brain Infantile neuroaxonal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA173239	rs_587784341	3 SubmittersRCV000147306 RCV001849995 RCV001657842
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.1754C>T (p.Thr585Ile)	SNV Germline	Chr22:38116200	Conflicting classifications of pathogenicity	Iron accumulation in brain not specified Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA173231	rs_587784338	3 SubmittersRCV000147302 RCV004700467 RCV005089714
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=)	SNV Germline	Chr22:38120776	Conflicting classifications of pathogenicity	Iron accumulation in brain PLA2G6-associated neurodegeneration Condition: not provided Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA173226	rs_200599704	5 SubmittersRCV000147299 RCV000303071 RCV000952288 RCV002055921
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.1612C>T (p.Arg538Cys)	SNV Germline	Chr22:38120889	Pathogenic/Likely pathogenic	Iron accumulation in brain Infantile neuroaxonal dystrophy Condition: not provided PLA2G6-associated neurodegeneration	Criteria Provided Multiple Submitters No Conflicts	CA173215	rs_370691849	4 SubmittersRCV000147293 RCV002515977 RCV004700466 RCV002515976
NM_003560.4(PLA2G6):c.1591+11C>A	SNV Germline	Chr22:38123084	Conflicting classifications of pathogenicity	Iron accumulation in brain Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA173213	rs_587784335	2 SubmittersRCV000147291 RCV003507256
NM_003560.4(PLA2G6):c.1591+8C>T	SNV Germline	Chr22:38123087	Conflicting classifications of pathogenicity	Iron accumulation in brain Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA173214	rs_200032947	2 SubmittersRCV000147292 RCV002055920
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.1348+9C>T	SNV Germline	Chr22:38128260	Conflicting classifications of pathogenicity	Iron accumulation in brain Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA173202	rs_587784328	2 SubmittersRCV000147284 RCV003507255
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.986G>A (p.Arg329His)	SNV Germline	Chr22:38132922	Conflicting classifications of pathogenicity	Iron accumulation in brain Infantile neuroaxonal dystrophy Condition: not provided PLA2G6-associated neurodegeneration	Criteria Provided Conflicting Classifications	CA173301	rs_587784363	5 SubmittersRCV000147340 RCV000995606 RCV000997929 RCV002514840
NM_003560.4(PLA2G6):c.786C>T (p.Phe262=)	SNV Germline	Chr22:38139993	Conflicting classifications of pathogenicity	Iron accumulation in brain Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA173291	rs_546742857	2 SubmittersRCV000147335 RCV002514839
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr)	SNV Germline	Chr22:38140106	Pathogenic/Likely pathogenic	Iron accumulation in brain Condition: not provided Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA173284	rs_587784359	3 SubmittersRCV000147331 RCV000484666 RCV001382688
NM_003560.4(PLA2G6):c.495G>C (p.Gly165=)	SNV Germline	Chr22:38143219	Conflicting classifications of pathogenicity	Iron accumulation in brain Infantile neuroaxonal dystrophy not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA173276	rs_150190277	6 SubmittersRCV000147327 RCV000873528 RCV001698973 RCV001567737
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_003560.4(PLA2G6):c.1942G>A (p.Gly648Arg)	SNV Germline	Chr22:38115619	Likely pathogenic	Infantile neuroaxonal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA358493	rs_794729212	2 SubmittersRCV000990440 RCV002259328
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)	SNV Germline	Chr22:38112165	Conflicting classifications of pathogenicity	not specified Condition: not provided Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Autosomal recessive Parkinson disease 14	Criteria Provided Conflicting Classifications	CA206378	rs_140758033	9 SubmittersRCV000193114 RCV000874967 RCV001078629 RCV001149228 RCV002295288
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_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_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_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_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.2259C>T (p.Val753=)	SNV Germline	Chr22:38112521	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10230564	rs_749966284	4 SubmittersRCV000392373 RCV001094907 RCV003437087 RCV004021865
NM_003560.4(PLA2G6):c.441G>A (p.Ala147=)	SNV Germline	Chr22:38143273	Conflicting classifications of pathogenicity	PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10231249	rs_371920697	2 SubmittersRCV000340020 RCV002523228
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_003560.4(PLA2G6):c.773C>T (p.Ser258Leu)	SNV Germline	Chr22:38140006	Conflicting classifications of pathogenicity	PLA2G6-associated neurodegeneration Condition: not provided Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10231164	rs_147924368	3 SubmittersRCV000310784 RCV001584046 RCV001244972
NM_003560.4(PLA2G6):c.1267G>A (p.Ala423Thr)	SNV Germline	Chr22:38128350	Conflicting classifications of pathogenicity	PLA2G6-associated neurodegeneration Condition: not provided Infantile neuroaxonal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10230961	rs_746217497	4 SubmittersRCV000372832 RCV000584848 RCV001861200 RCV003168518
NM_003560.4(PLA2G6):c.895-11G>A	SNV Germline	Chr22:38133024	Conflicting classifications of pathogenicity	PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10231096	rs_371094406	2 SubmittersRCV000399484 RCV002524455
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_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_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_003560.4(PLA2G6):c.1424G>A (p.Arg475Gln)	SNV Germline	Chr22:38126374	Conflicting classifications of pathogenicity	Condition: not provided Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10230873	rs_139184008	4 SubmittersRCV000487504 RCV000689908
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_003560.4(PLA2G6):c.3G>T (p.Met1Ile)	SNV Not applicable	Chr22:38169424	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411521181	rs_764959600	1 SubmittersRCV000578770
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn)	SNV Germline	Chr22:38123180	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy not specified Condition: not provided PLA2G6-associated neurodegeneration	Criteria Provided Conflicting Classifications	CA411527942	rs_1555988382	6 SubmittersRCV000502668 RCV001329713 RCV003403171 RCV003441899 RCV005411461
NM_003560.4(PLA2G6):c.1743-1G>C	SNV Unknown	Chr22:38116212	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411525852	rs_1555979401	1 SubmittersRCV000502251
NM_003560.4(PLA2G6):c.1427+1G>A	SNV Germline	Chr22:38126370	Pathogenic/Likely pathogenic	Infantile neuroaxonal dystrophy Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Condition: not provided PLA2G6-associated neurodegeneration	Criteria Provided Multiple Submitters No Conflicts	CA10230870	rs_750939090	6 SubmittersRCV000500147 RCV000763483 RCV001783002 RCV002527311
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val)	SNV Germline	Chr22:38126390	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10230879	rs_201801144	10 SubmittersRCV000634964 RCV000513108 RCV002524964
NM_003560.4(PLA2G6):c.1428-5T>G	SNV Germline	Chr22:38123263	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy not specified	Criteria Provided Conflicting Classifications	CA658656836	rs_1555988730	2 SubmittersRCV000557056 RCV002248765
NM_003560.4(PLA2G6):c.396C>T (p.Arg132=)	SNV Germline	Chr22:38145467	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Condition: not provided	Criteria Provided Conflicting Classifications	CA10231284	rs_146252218	4 SubmittersRCV000546120 RCV001150841 RCV001310808
NM_003560.4(PLA2G6):c.1187-5A>G	SNV Germline	Chr22:38128435	Conflicting classifications of pathogenicity	Condition: not provided Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA658684275	rs_1175689296	2 SubmittersRCV000585173 RCV002065125
NM_003560.4(PLA2G6):c.2277-2A>C	SNV Germline	Chr22:38112307	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Condition: not provided	Criteria Provided Conflicting Classifications	CA10230544	rs_552606315	3 SubmittersRCV000815114 RCV002532704 RCV000599329
NM_003560.4(PLA2G6):c.834G>C (p.Gln278His)	SNV Germline	Chr22:38135048	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy not specified	Criteria Provided Conflicting Classifications	CA411531125	rs_1556010444	2 SubmittersRCV000625817 RCV004800498
NM_003560.4(PLA2G6):c.217C>T (p.Gln73Ter)	SNV Germline	Chr22:38145646	Pathogenic/Likely pathogenic	Condition: not provided Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA411532515	rs_1556032708	2 SubmittersRCV000627321 RCV003507307
NM_003560.4(PLA2G6):c.1797C>G (p.Phe599Leu)	SNV Germline	Chr22:38116157	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA411525687	rs_1555979298	2 SubmittersRCV000634963
NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp)	SNV Germline	Chr22:38123251	Pathogenic/Likely pathogenic	Infantile neuroaxonal dystrophy Condition: not provided Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA411528216	rs_1235695530	4 SubmittersRCV000634962 RCV004588062 RCV005431830
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_003560.4(PLA2G6):c.1268C>T (p.Ala423Val)	SNV Germline	Chr22:38128349	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10230960	rs_199636953	4 SubmittersRCV000701652 RCV001836867 RCV002536345
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_003560.4(PLA2G6):c.962T>C (p.Leu321Pro)	SNV Germline	Chr22:38132946	Likely pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411530840	rs_1569264087	1 SubmittersRCV000784958
NM_003560.4(PLA2G6):c.1186+1G>A	SNV Germline	Chr22:38129453	Pathogenic/Likely pathogenic	Infantile neuroaxonal dystrophy Condition: not provided PLA2G6-associated neurodegeneration	Criteria Provided Multiple Submitters No Conflicts	CA324194884	rs_761815070	5 SubmittersRCV000785898 RCV001310807 RCV002535731
NM_003560.4(PLA2G6):c.2035-2A>G	SNV Germline	Chr22:38113656	Pathogenic/Likely pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA411524162	rs_1602057157	2 SubmittersRCV000853335
NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=)	SNV Germline	Chr22:38115578	Conflicting classifications of pathogenicity	Condition: not provided Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration	Criteria Provided Conflicting Classifications	CA10230662	rs_150572286	3 SubmittersRCV000876770 RCV002064865 RCV001150737
NM_003560.4(PLA2G6):c.966C>T (p.His322=)	SNV Germline	Chr22:38132942	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10231082	rs_144033740	5 SubmittersRCV000872364 RCV001147486 RCV001550210 RCV001664511
NM_003560.4(PLA2G6):c.2277-6G>A	SNV Germline	Chr22:38112311	Conflicting classifications of pathogenicity	Condition: not provided Infantile neuroaxonal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10230547	rs_370528124	3 SubmittersRCV000871949 RCV002064687 RCV005453118
NM_003560.4(PLA2G6):c.895-5C>T	SNV Germline	Chr22:38133018	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Condition: not provided PLA2G6-associated neurodegeneration	Criteria Provided Conflicting Classifications	CA10231095	rs_372128546	3 SubmittersRCV000872713 RCV001796291 RCV001147488
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.1428-8C>T	SNV Germline	Chr22:38123266	Conflicting classifications of pathogenicity	Condition: not provided Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10230824	rs_370288820	3 SubmittersRCV000951955 RCV001078763
NM_003560.4(PLA2G6):c.2350G>A (p.Glu784Lys)	SNV Unknown	Chr22:38112232	Likely pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411523112	rs_1602051017	1 SubmittersRCV000990438
NM_003560.4(PLA2G6):c.2276+1G>A	SNV Germline	Chr22:38112503	Pathogenic	Infantile neuroaxonal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA411523278	rs_1397030516	2 SubmittersRCV000990439 RCV002462247
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.1624T>G (p.Phe542Val)	SNV Unknown	Chr22:38120877	Likely pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411527598	rs_1602088419	1 SubmittersRCV000990443
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)	SNV Germline	Chr22:38123191	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration PLA2G6-related disorder Neurodegeneration with brain iron accumulation Condition: not provided Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Conflicting Classifications	CA10230816	rs_141045127	7 SubmittersRCV000990444 RCV002550617 RCV003411932 RCV004702560 RCV004822278 RCV005029548
NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter)	SNV Unknown	Chr22:38169263	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411520847	rs_1177564212	1 SubmittersRCV000990445
NM_003560.4(PLA2G6):c.1612C>A (p.Arg538Ser)	SNV Germline	Chr22:38120889	Conflicting classifications of pathogenicity	Condition: not provided not specified Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Conflicting Classifications	CA411527652	rs_370691849	3 SubmittersRCV000997927 RCV004689949 RCV005029557
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser)	SNV Germline	Chr22:38140022	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration not specified	Criteria Provided Conflicting Classifications	CA10231169	rs_745643715	4 SubmittersRCV000995607 RCV002550682 RCV004702563
NM_003560.4(PLA2G6):c.1880-1G>C	SNV Germline	Chr22:38115682	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411524893	rs_1025497590	1 SubmittersRCV001004413
NM_003560.4(PLA2G6):c.1187-1G>A	SNV Germline	Chr22:38128431	Pathogenic/Likely pathogenic	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration	Criteria Provided Multiple Submitters No Conflicts	CA411530347	rs_1477656610	2 SubmittersRCV001004414 RCV002549242
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_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys)	SNV Germline	Chr22:38120874	Pathogenic/Likely pathogenic	Condition: not provided PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10230787	rs_753874848	3 SubmittersRCV001092013 RCV002557959 RCV003507352
NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=)	SNV Germline	Chr22:38115533	Conflicting classifications of pathogenicity	PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA514543752	rs_561645994	2 SubmittersRCV001150736 RCV003507354
NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=)	SNV Germline	Chr22:38120887	Conflicting classifications of pathogenicity	Condition: not provided PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10230790	rs_373930150	3 SubmittersRCV001171726 RCV001144628 RCV002070743
NM_003560.4(PLA2G6):c.155A>G (p.Asn52Ser)	SNV Germline	Chr22:38169272	Conflicting classifications of pathogenicity	PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10231364	rs_772131195	3 SubmittersRCV001144723 RCV002032366 RCV005453178
NM_003560.4(PLA2G6):c.1348+10G>A	SNV Germline	Chr22:38128259	Conflicting classifications of pathogenicity	PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10230946	rs_761202760	2 SubmittersRCV001144631 RCV002557088
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_003560.4(PLA2G6):c.1111G>A (p.Val371Met)	SNV Germline	Chr22:38129529	Likely pathogenic	Inborn genetic diseases Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration	Criteria Provided Multiple Submitters No Conflicts	CA10231018	rs_765156550	4 SubmittersRCV001266643 RCV001644963 RCV002537691
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_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter)	SNV Germline	Chr22:38112233	Pathogenic/Likely pathogenic	Condition: not provided PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10230533	rs_775386225	3 SubmittersRCV001310803 RCV002543562 RCV002545037
NM_003560.4(PLA2G6):c.2251G>T (p.Glu751Ter)	SNV Germline	Chr22:38112529	Pathogenic	Condition: not provided Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA411523339	rs_1296348337	2 SubmittersRCV001310804 RCV003507372
NM_003560.4(PLA2G6):c.1703T>C (p.Phe568Ser)	SNV Germline	Chr22:38120798	Likely pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411527240	rs_2145710946	1 SubmittersRCV001647170
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter)	SNV Germline	Chr22:38115628	Pathogenic	Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Multiple Submitters No Conflicts	CA411524782	rs_1484455290	5 SubmittersRCV001329715 RCV003507373 RCV004796605
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val)	SNV Germline	Chr22:38115663	Conflicting classifications of pathogenicity	Condition: not provided Abnormality of the nervous system not specified PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA324183528	rs_201657455	6 SubmittersRCV001546189 RCV001814517 RCV003317507 RCV002568243 RCV003507375
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_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_003560.4(PLA2G6):c.1835G>T (p.Arg612Leu)	SNV Germline	Chr22:38116119	Conflicting classifications of pathogenicity	Condition: not provided Infantile neuroaxonal dystrophy not specified	Criteria Provided Conflicting Classifications	CA10230706	rs_200117092	4 SubmittersRCV001588132 RCV002072337 RCV002282568
NM_003560.4(PLA2G6):c.848A>G (p.Asp283Gly)	SNV Germline	Chr22:38135034	Conflicting classifications of pathogenicity	Condition: not provided PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10231127	rs_746405809	3 SubmittersRCV001590106 RCV002579477 RCV001866213
NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp)	SNV Germline	Chr22:38116183	Pathogenic/Likely pathogenic	Condition: not provided Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration	Criteria Provided Multiple Submitters No Conflicts	CA324184037	rs_1043378899	3 SubmittersRCV001727224 RCV002032692 RCV002539768
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.1974C>A (p.Asn658Lys)	SNV Germline	Chr22:38115587	Conflicting classifications of pathogenicity	Condition: not provided Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration	Criteria Provided Conflicting Classifications	CA324183423	rs_1048444597	4 SubmittersRCV001762931 RCV002538756 RCV002538757
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_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr)	SNV Germline	Chr22:38112531	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration	Criteria Provided Conflicting Classifications	CA10230567	rs_751225193	2 SubmittersRCV001823609 RCV002542738
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_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_003560.4(PLA2G6):c.238G>T (p.Ala80Ser)	SNV Germline	Chr22:38145625	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy not specified	Criteria Provided Conflicting Classifications	CA324214071	rs_121908685	2 SubmittersRCV001971278 RCV004690207
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_003560.4(PLA2G6):c.353C>T (p.Pro118Leu)	SNV Germline	Chr22:38145510	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10231287	rs_765125582	4 SubmittersRCV002026398 RCV004793704 RCV004587291
NM_003560.4(PLA2G6):c.209+2T>G	SNV Germline	Chr22:38169216	Likely pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA10231349	rs_760904035	1 SubmittersRCV002019802
NM_003560.4(PLA2G6):c.1328C>T (p.Pro443Leu)	SNV Germline	Chr22:38128289	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10230951	rs_375740918	2 SubmittersRCV002098072 RCV003481260
NM_003560.4(PLA2G6):c.1085A>T (p.Asn362Ile)	SNV Germline	Chr22:38129555	Likely pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411530572	rs_2145753835	1 SubmittersRCV002249135
NM_003560.4(PLA2G6):c.2032A>G (p.Lys678Glu)	SNV Germline	Chr22:38115529	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA411524579	rs_2087135251	2 SubmittersRCV002250242
NM_003560.4(PLA2G6):c.1969G>A (p.Ala657Thr)	SNV Germline	Chr22:38115592	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411524715	rs_1318351016	1 SubmittersRCV002250243
NM_003560.4(PLA2G6):c.1069G>A (p.Ala357Thr)	SNV Germline	Chr22:38132839	Pathogenic/Likely pathogenic	Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Multiple Submitters No Conflicts	CA411530626	rs_2145770192	2 SubmittersRCV002250245 RCV004594627
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.710G>A (p.Arg237His)	SNV Germline	Chr22:38140069	Conflicting classifications of pathogenicity	Condition: not provided Infantile neuroaxonal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10231186	rs_147066967	4 SubmittersRCV002288218 RCV003097757 RCV003097758
NM_003560.4(PLA2G6):c.2035-926G>A	SNV Germline	Chr22:38114580	Conflicting classifications of pathogenicity	Condition: not provided PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA324182458	rs_930495767	4 SubmittersRCV002293068 RCV003408219 RCV003164492
NM_003560.4(PLA2G6):c.1511C>T (p.Ser504Leu)	SNV Germline	Chr22:38123175	Conflicting classifications of pathogenicity	not specified Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA411527930	rs_2087622708	2 SubmittersRCV002302500 RCV003098023
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_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)	SNV Germline	Chr22:38123139	Conflicting classifications of pathogenicity	not specified Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration	Criteria Provided Conflicting Classifications	CA10230813	rs_151108668	3 SubmittersRCV003226564 RCV003064658 RCV003064657
NM_003560.4(PLA2G6):c.1974C>G (p.Asn658Lys)	SNV Germline	Chr22:38115587	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411524705	rs_1048444597	1 SubmittersRCV003088506
NM_003560.4(PLA2G6):c.1670C>T (p.Ser557Leu)	SNV Germline	Chr22:38120831	Pathogenic/Likely pathogenic	Infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration	Criteria Provided Multiple Submitters No Conflicts	CA10230778	rs_769047790	2 SubmittersRCV002651165 RCV002651164
NM_003560.4(PLA2G6):c.1630A>T (p.Met544Leu)	SNV Germline	Chr22:38120871	Likely pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411527571	rs_2517951819	1 SubmittersRCV002835019
NM_003560.4(PLA2G6):c.1630A>G (p.Met544Val)	SNV Germline	Chr22:38120871	Likely pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411527574	rs_2517951819	1 SubmittersRCV003050324
NM_003560.4(PLA2G6):c.1097T>A (p.Ile366Asn)	SNV Germline	Chr22:38129543	Conflicting classifications of pathogenicity	PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10231022	rs_778225931	2 SubmittersRCV002789942 RCV004765748
NM_003560.4(PLA2G6):c.1A>G (p.Met1Val)	SNV Germline	Chr22:38169426	Pathogenic	PLA2G6-associated neurodegeneration Infantile neuroaxonal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA411521186	rs_1167198937	2 SubmittersRCV002789947 RCV003507474
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_003560.4(PLA2G6):c.967G>A (p.Val323Met)	SNV Germline	Chr22:38132941	Conflicting classifications of pathogenicity	Condition: not provided Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA411530829	rs_1456513786	3 SubmittersRCV003332447 RCV003444385
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.2276+1G>C	SNV Germline	Chr22:38112503	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411523277	rs_1397030516	1 SubmittersRCV003508154
NM_003560.4(PLA2G6):c.1982C>T (p.Thr661Met)	SNV Germline	Chr22:38115579	Pathogenic	Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Multiple Submitters No Conflicts	CA10230663	rs_767689496	3 SubmittersRCV003508541 RCV005036867
NM_003560.4(PLA2G6):c.2144G>A (p.Trp715Ter)	SNV Germline	Chr22:38113545	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411523738	rs_2087008432	1 SubmittersRCV003508936
NM_003560.4(PLA2G6):c.2035-1G>A	SNV Germline	Chr22:38113655	Likely pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411524160	rs_2517918137	1 SubmittersRCV003507040
NM_003560.4(PLA2G6):c.1882C>T (p.Gln628Ter)	SNV Germline	Chr22:38115679	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411524884	rs_2087146072	1 SubmittersRCV003506939
NM_003560.4(PLA2G6):c.1501G>T (p.Glu501Ter)	SNV Germline	Chr22:38123185	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411527954	rs_587784332	1 SubmittersRCV003507838
NM_003560.4(PLA2G6):c.798-1G>T	SNV Germline	Chr22:38135085	Likely pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411531213	rs_2518020318	1 SubmittersRCV003616014
NM_003560.4(PLA2G6):c.1666G>T (p.Glu556Ter)	SNV Germline	Chr22:38120835	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA10230780	rs_777259654	1 SubmittersRCV003616906
NM_003560.4(PLA2G6):c.1117G>C (p.Gly373Arg)	SNV Germline	Chr22:38129523	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411530505	rs_587784327	1 SubmittersRCV003616926
NM_003560.4(PLA2G6):c.1078-1G>A	SNV Germline	Chr22:38129563	Likely pathogenic	Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Infantile neuroaxonal dystrophy Autosomal recessive Parkinson disease 14	Criteria Provided Multiple Submitters No Conflicts	CA411530596	rs_2088081974	2 SubmittersRCV003617282 RCV005030236
NM_003560.4(PLA2G6):c.1592-1G>C	SNV Germline	Chr22:38120910	Likely pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411527751	rs_2517952110	1 SubmittersRCV003821612
NM_003560.4(PLA2G6):c.552C>G (p.Tyr184Ter)	SNV Germline	Chr22:38143162	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter	CA411531780	rs_2518056118	1 SubmittersRCV003852783
NM_003560.4(PLA2G6):c.1772G>T (p.Arg591Leu)	SNV Germline	Chr22:38116182	Conflicting classifications of pathogenicity	not specified Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Autosomal recessive Parkinson disease 14	Criteria Provided Conflicting Classifications	CA411525741	rs_776713955	2 SubmittersRCV004527204 RCV005038703
NM_003560.4(PLA2G6):c.2218G>A (p.Gly740Arg)	SNV Germline	Chr22:38112562	Conflicting classifications of pathogenicity	Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications			2 SubmittersRCV004764455
NM_003560.4(PLA2G6):c.2266C>T (p.Gln756Ter)	SNV Germline	Chr22:38112514	Likely pathogenic	Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Single Submitter			1 SubmittersRCV005029389
NM_003560.4(PLA2G6):c.985C>T (p.Arg329Cys)	SNV Germline	Chr22:38132923	Likely pathogenic	Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Single Submitter			1 SubmittersRCV005032845
NM_003560.4(PLA2G6):c.210-1G>A	SNV Germline	Chr22:38145654	Likely pathogenic	Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B	Criteria Provided Single Submitter			1 SubmittersRCV005032847
NM_003560.4(PLA2G6):c.1039G>C (p.Gly347Arg)	SNV Germline	Chr22:38132869	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005078450
NM_003560.4(PLA2G6):c.76G>T (p.Glu26Ter)	SNV Germline	Chr22:38169351	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005118145
NM_003560.4(PLA2G6):c.1665C>A (p.Tyr555Ter)	SNV Germline	Chr22:38120836	Pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005166042
NM_003560.4(PLA2G6):c.1748T>C (p.Met583Thr)	SNV Germline	Chr22:38116206	Likely pathogenic	Infantile neuroaxonal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005233258
NM_003560.4(PLA2G6):c.1427+1G>T	SNV Germline	Chr22:38126370	Pathogenic	Infantile neuroaxonal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV005412153

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.929T>A (p.Val310Glu)

SNV
Germline

Chr22:38132979

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration

Criteria Provided
Conflicting Classifications

CA253794

rs_121908682

4 SubmittersRCV000006574 RCV002512835

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_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser)

SNV
Germline

Chr22:38112534

Conflicting classifications of pathogenicity

Iron accumulation in brain
Condition: not provided
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
not specified

Criteria Provided
Conflicting Classifications

CA173260

rs_587784351

5 SubmittersRCV000147318 RCV000489829 RCV001849997 RCV005411351 RCV004689625

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.2128C>T (p.Arg710Cys)

SNV
Germline

Chr22:38113561

Conflicting classifications of pathogenicity

Iron accumulation in brain
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration

Criteria Provided
Conflicting Classifications

CA173253

rs_587784347

4 SubmittersRCV000147314 RCV000537119 RCV002515979

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.1978C>T (p.Pro660Ser)

SNV
Germline

Chr22:38115583

Conflicting classifications of pathogenicity

Iron accumulation in brain
Infantile neuroaxonal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA173239

rs_587784341

3 SubmittersRCV000147306 RCV001849995 RCV001657842

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.1754C>T (p.Thr585Ile)

SNV
Germline

Chr22:38116200

Conflicting classifications of pathogenicity

Iron accumulation in brain
not specified
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA173231

rs_587784338

3 SubmittersRCV000147302 RCV004700467 RCV005089714

NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=)

SNV
Germline

Chr22:38120776

Conflicting classifications of pathogenicity

Iron accumulation in brain
PLA2G6-associated neurodegeneration
Condition: not provided
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA173226

rs_200599704

5 SubmittersRCV000147299 RCV000303071 RCV000952288 RCV002055921

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.1612C>T (p.Arg538Cys)

SNV
Germline

Chr22:38120889

Pathogenic/Likely pathogenic

Iron accumulation in brain
Infantile neuroaxonal dystrophy
Condition: not provided
PLA2G6-associated neurodegeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA173215

rs_370691849

4 SubmittersRCV000147293 RCV002515977 RCV004700466 RCV002515976

NM_003560.4(PLA2G6):c.1591+11C>A

SNV
Germline

Chr22:38123084

Conflicting classifications of pathogenicity

Iron accumulation in brain
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA173213

rs_587784335

2 SubmittersRCV000147291 RCV003507256

NM_003560.4(PLA2G6):c.1591+8C>T

SNV
Germline

Chr22:38123087

Conflicting classifications of pathogenicity

Iron accumulation in brain
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA173214

rs_200032947

2 SubmittersRCV000147292 RCV002055920

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.1348+9C>T

SNV
Germline

Chr22:38128260

Conflicting classifications of pathogenicity

Iron accumulation in brain
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA173202

rs_587784328

2 SubmittersRCV000147284 RCV003507255

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.986G>A (p.Arg329His)

SNV
Germline

Chr22:38132922

Conflicting classifications of pathogenicity

Iron accumulation in brain
Infantile neuroaxonal dystrophy
Condition: not provided
PLA2G6-associated neurodegeneration

Criteria Provided
Conflicting Classifications

CA173301

rs_587784363

5 SubmittersRCV000147340 RCV000995606 RCV000997929 RCV002514840

NM_003560.4(PLA2G6):c.786C>T (p.Phe262=)

SNV
Germline

Chr22:38139993

Conflicting classifications of pathogenicity

Iron accumulation in brain
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA173291

rs_546742857

2 SubmittersRCV000147335 RCV002514839

NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr)

SNV
Germline

Chr22:38140106

Pathogenic/Likely pathogenic

Iron accumulation in brain
Condition: not provided
Infantile neuroaxonal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA173284

rs_587784359

3 SubmittersRCV000147331 RCV000484666 RCV001382688

NM_003560.4(PLA2G6):c.495G>C (p.Gly165=)

SNV
Germline

Chr22:38143219

Conflicting classifications of pathogenicity

Iron accumulation in brain
Infantile neuroaxonal dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA173276

rs_150190277

6 SubmittersRCV000147327 RCV000873528 RCV001698973 RCV001567737

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_003560.4(PLA2G6):c.1942G>A (p.Gly648Arg)

SNV
Germline

Chr22:38115619

Likely pathogenic

Infantile neuroaxonal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA358493

rs_794729212

2 SubmittersRCV000990440 RCV002259328

NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)

SNV
Germline

Chr22:38112165

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Autosomal recessive Parkinson disease 14

Criteria Provided
Conflicting Classifications

CA206378

rs_140758033

9 SubmittersRCV000193114 RCV000874967 RCV001078629 RCV001149228 RCV002295288

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_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_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_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_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.2259C>T (p.Val753=)

SNV
Germline

Chr22:38112521

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10230564

rs_749966284

4 SubmittersRCV000392373 RCV001094907 RCV003437087 RCV004021865

NM_003560.4(PLA2G6):c.441G>A (p.Ala147=)

SNV
Germline

Chr22:38143273

Conflicting classifications of pathogenicity

PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10231249

rs_371920697

2 SubmittersRCV000340020 RCV002523228

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_003560.4(PLA2G6):c.773C>T (p.Ser258Leu)

SNV
Germline

Chr22:38140006

Conflicting classifications of pathogenicity

PLA2G6-associated neurodegeneration
Condition: not provided
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10231164

rs_147924368

3 SubmittersRCV000310784 RCV001584046 RCV001244972

NM_003560.4(PLA2G6):c.1267G>A (p.Ala423Thr)

SNV
Germline

Chr22:38128350

Conflicting classifications of pathogenicity

PLA2G6-associated neurodegeneration
Condition: not provided
Infantile neuroaxonal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10230961

rs_746217497

4 SubmittersRCV000372832 RCV000584848 RCV001861200 RCV003168518

NM_003560.4(PLA2G6):c.895-11G>A

SNV
Germline

Chr22:38133024

Conflicting classifications of pathogenicity

PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10231096

rs_371094406

2 SubmittersRCV000399484 RCV002524455

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_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_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_003560.4(PLA2G6):c.1424G>A (p.Arg475Gln)

SNV
Germline

Chr22:38126374

Conflicting classifications of pathogenicity

Condition: not provided
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10230873

rs_139184008

4 SubmittersRCV000487504 RCV000689908

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_003560.4(PLA2G6):c.3G>T (p.Met1Ile)

SNV
Not applicable

Chr22:38169424

Pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411521181

rs_764959600

1 SubmittersRCV000578770

NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn)

SNV
Germline

Chr22:38123180

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA411527942

rs_1555988382

6 SubmittersRCV000502668 RCV001329713 RCV003403171 RCV003441899 RCV005411461

NM_003560.4(PLA2G6):c.1743-1G>C

SNV
Unknown

Chr22:38116212

Pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411525852

rs_1555979401

1 SubmittersRCV000502251

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

SNV
Germline

Chr22:38126370

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10230870

rs_750939090

6 SubmittersRCV000500147 RCV000763483 RCV001783002 RCV002527311

NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val)

SNV
Germline

Chr22:38126390

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10230879

rs_201801144

10 SubmittersRCV000634964 RCV000513108 RCV002524964

NM_003560.4(PLA2G6):c.1428-5T>G

SNV
Germline

Chr22:38123263

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA658656836

rs_1555988730

2 SubmittersRCV000557056 RCV002248765

NM_003560.4(PLA2G6):c.396C>T (p.Arg132=)

SNV
Germline

Chr22:38145467

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10231284

rs_146252218

4 SubmittersRCV000546120 RCV001150841 RCV001310808

NM_003560.4(PLA2G6):c.1187-5A>G

SNV
Germline

Chr22:38128435

Conflicting classifications of pathogenicity

Condition: not provided
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA658684275

rs_1175689296

2 SubmittersRCV000585173 RCV002065125

NM_003560.4(PLA2G6):c.2277-2A>C

SNV
Germline

Chr22:38112307

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10230544

rs_552606315

3 SubmittersRCV000815114 RCV002532704 RCV000599329

NM_003560.4(PLA2G6):c.834G>C (p.Gln278His)

SNV
Germline

Chr22:38135048

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA411531125

rs_1556010444

2 SubmittersRCV000625817 RCV004800498

NM_003560.4(PLA2G6):c.217C>T (p.Gln73Ter)

SNV
Germline

Chr22:38145646

Pathogenic/Likely pathogenic

Condition: not provided
Infantile neuroaxonal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA411532515

rs_1556032708

2 SubmittersRCV000627321 RCV003507307

NM_003560.4(PLA2G6):c.1797C>G (p.Phe599Leu)

SNV
Germline

Chr22:38116157

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA411525687

rs_1555979298

2 SubmittersRCV000634963

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

SNV
Germline

Chr22:38123251

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA411528216

rs_1235695530

4 SubmittersRCV000634962 RCV004588062 RCV005431830

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_003560.4(PLA2G6):c.1268C>T (p.Ala423Val)

SNV
Germline

Chr22:38128349

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10230960

rs_199636953

4 SubmittersRCV000701652 RCV001836867 RCV002536345

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_003560.4(PLA2G6):c.962T>C (p.Leu321Pro)

SNV
Germline

Chr22:38132946

Likely pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411530840

rs_1569264087

1 SubmittersRCV000784958

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

SNV
Germline

Chr22:38129453

Pathogenic/Likely pathogenic

Infantile neuroaxonal dystrophy
Condition: not provided
PLA2G6-associated neurodegeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA324194884

rs_761815070

5 SubmittersRCV000785898 RCV001310807 RCV002535731

NM_003560.4(PLA2G6):c.2035-2A>G

SNV
Germline

Chr22:38113656

Pathogenic/Likely pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA411524162

rs_1602057157

2 SubmittersRCV000853335

NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=)

SNV
Germline

Chr22:38115578

Conflicting classifications of pathogenicity

Condition: not provided
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration

Criteria Provided
Conflicting Classifications

CA10230662

rs_150572286

3 SubmittersRCV000876770 RCV002064865 RCV001150737

NM_003560.4(PLA2G6):c.966C>T (p.His322=)

SNV
Germline

Chr22:38132942

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10231082

rs_144033740

5 SubmittersRCV000872364 RCV001147486 RCV001550210 RCV001664511

NM_003560.4(PLA2G6):c.2277-6G>A

SNV
Germline

Chr22:38112311

Conflicting classifications of pathogenicity

Condition: not provided
Infantile neuroaxonal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10230547

rs_370528124

3 SubmittersRCV000871949 RCV002064687 RCV005453118

NM_003560.4(PLA2G6):c.895-5C>T

SNV
Germline

Chr22:38133018

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
Condition: not provided
PLA2G6-associated neurodegeneration

Criteria Provided
Conflicting Classifications

CA10231095

rs_372128546

3 SubmittersRCV000872713 RCV001796291 RCV001147488

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.1428-8C>T

SNV
Germline

Chr22:38123266

Conflicting classifications of pathogenicity

Condition: not provided
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10230824

rs_370288820

3 SubmittersRCV000951955 RCV001078763

NM_003560.4(PLA2G6):c.2350G>A (p.Glu784Lys)

SNV
Unknown

Chr22:38112232

Likely pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411523112

rs_1602051017

1 SubmittersRCV000990438

NM_003560.4(PLA2G6):c.2276+1G>A

SNV
Germline

Chr22:38112503

Pathogenic

Infantile neuroaxonal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA411523278

rs_1397030516

2 SubmittersRCV000990439 RCV002462247

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.1624T>G (p.Phe542Val)

SNV
Unknown

Chr22:38120877

Likely pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411527598

rs_1602088419

1 SubmittersRCV000990443

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

SNV
Germline

Chr22:38123191

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10230816

rs_141045127

7 SubmittersRCV000990444 RCV002550617 RCV003411932 RCV004702560 RCV004822278 RCV005029548

NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter)

SNV
Unknown

Chr22:38169263

Pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411520847

rs_1177564212

1 SubmittersRCV000990445

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

SNV
Germline

Chr22:38120889

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA411527652

rs_370691849

3 SubmittersRCV000997927 RCV004689949 RCV005029557

NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser)

SNV
Germline

Chr22:38140022

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
not specified

Criteria Provided
Conflicting Classifications

CA10231169

rs_745643715

4 SubmittersRCV000995607 RCV002550682 RCV004702563

NM_003560.4(PLA2G6):c.1880-1G>C

SNV
Germline

Chr22:38115682

Pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411524893

rs_1025497590

1 SubmittersRCV001004413

NM_003560.4(PLA2G6):c.1187-1G>A

SNV
Germline

Chr22:38128431

Pathogenic/Likely pathogenic

Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA411530347

rs_1477656610

2 SubmittersRCV001004414 RCV002549242

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_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys)

SNV
Germline

Chr22:38120874

Pathogenic/Likely pathogenic

Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10230787

rs_753874848

3 SubmittersRCV001092013 RCV002557959 RCV003507352

NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=)

SNV
Germline

Chr22:38115533

Conflicting classifications of pathogenicity

PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA514543752

rs_561645994

2 SubmittersRCV001150736 RCV003507354

NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=)

SNV
Germline

Chr22:38120887

Conflicting classifications of pathogenicity

Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10230790

rs_373930150

3 SubmittersRCV001171726 RCV001144628 RCV002070743

NM_003560.4(PLA2G6):c.155A>G (p.Asn52Ser)

SNV
Germline

Chr22:38169272

Conflicting classifications of pathogenicity

PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10231364

rs_772131195

3 SubmittersRCV001144723 RCV002032366 RCV005453178

NM_003560.4(PLA2G6):c.1348+10G>A

SNV
Germline

Chr22:38128259

Conflicting classifications of pathogenicity

PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10230946

rs_761202760

2 SubmittersRCV001144631 RCV002557088

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_003560.4(PLA2G6):c.1111G>A (p.Val371Met)

SNV
Germline

Chr22:38129529

Likely pathogenic

Inborn genetic diseases
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA10231018

rs_765156550

4 SubmittersRCV001266643 RCV001644963 RCV002537691

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_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter)

SNV
Germline

Chr22:38112233

Pathogenic/Likely pathogenic

Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10230533

rs_775386225

3 SubmittersRCV001310803 RCV002543562 RCV002545037

NM_003560.4(PLA2G6):c.2251G>T (p.Glu751Ter)

SNV
Germline

Chr22:38112529

Pathogenic

Condition: not provided
Infantile neuroaxonal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA411523339

rs_1296348337

2 SubmittersRCV001310804 RCV003507372

NM_003560.4(PLA2G6):c.1703T>C (p.Phe568Ser)

SNV
Germline

Chr22:38120798

Likely pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411527240

rs_2145710946

1 SubmittersRCV001647170

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

SNV
Germline

Chr22:38115628

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA411524782

rs_1484455290

5 SubmittersRCV001329715 RCV003507373 RCV004796605

NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val)

SNV
Germline

Chr22:38115663

Conflicting classifications of pathogenicity

Condition: not provided
Abnormality of the nervous system
not specified
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA324183528

rs_201657455

6 SubmittersRCV001546189 RCV001814517 RCV003317507 RCV002568243 RCV003507375

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_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_003560.4(PLA2G6):c.1835G>T (p.Arg612Leu)

SNV
Germline

Chr22:38116119

Conflicting classifications of pathogenicity

Condition: not provided
Infantile neuroaxonal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA10230706

rs_200117092

4 SubmittersRCV001588132 RCV002072337 RCV002282568

NM_003560.4(PLA2G6):c.848A>G (p.Asp283Gly)

SNV
Germline

Chr22:38135034

Conflicting classifications of pathogenicity

Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10231127

rs_746405809

3 SubmittersRCV001590106 RCV002579477 RCV001866213

NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp)

SNV
Germline

Chr22:38116183

Pathogenic/Likely pathogenic

Condition: not provided
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA324184037

rs_1043378899

3 SubmittersRCV001727224 RCV002032692 RCV002539768

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.1974C>A (p.Asn658Lys)

SNV
Germline

Chr22:38115587

Conflicting classifications of pathogenicity

Condition: not provided
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration

Criteria Provided
Conflicting Classifications

CA324183423

rs_1048444597

4 SubmittersRCV001762931 RCV002538756 RCV002538757

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_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr)

SNV
Germline

Chr22:38112531

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration

Criteria Provided
Conflicting Classifications

CA10230567

rs_751225193

2 SubmittersRCV001823609 RCV002542738

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_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_003560.4(PLA2G6):c.238G>T (p.Ala80Ser)

SNV
Germline

Chr22:38145625

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA324214071

rs_121908685

2 SubmittersRCV001971278 RCV004690207

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_003560.4(PLA2G6):c.353C>T (p.Pro118Leu)

SNV
Germline

Chr22:38145510

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10231287

rs_765125582

4 SubmittersRCV002026398 RCV004793704 RCV004587291

NM_003560.4(PLA2G6):c.209+2T>G

SNV
Germline

Chr22:38169216

Likely pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA10231349

rs_760904035

1 SubmittersRCV002019802

NM_003560.4(PLA2G6):c.1328C>T (p.Pro443Leu)

SNV
Germline

Chr22:38128289

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10230951

rs_375740918

2 SubmittersRCV002098072 RCV003481260

NM_003560.4(PLA2G6):c.1085A>T (p.Asn362Ile)

SNV
Germline

Chr22:38129555

Likely pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411530572

rs_2145753835

1 SubmittersRCV002249135

NM_003560.4(PLA2G6):c.2032A>G (p.Lys678Glu)

SNV
Germline

Chr22:38115529

Conflicting classifications of pathogenicity

Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA411524579

rs_2087135251

2 SubmittersRCV002250242

NM_003560.4(PLA2G6):c.1969G>A (p.Ala657Thr)

SNV
Germline

Chr22:38115592

Pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411524715

rs_1318351016

1 SubmittersRCV002250243

NM_003560.4(PLA2G6):c.1069G>A (p.Ala357Thr)

SNV
Germline

Chr22:38132839

Pathogenic/Likely pathogenic

Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA411530626

rs_2145770192

2 SubmittersRCV002250245 RCV004594627

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.710G>A (p.Arg237His)

SNV
Germline

Chr22:38140069

Conflicting classifications of pathogenicity

Condition: not provided
Infantile neuroaxonal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10231186

rs_147066967

4 SubmittersRCV002288218 RCV003097757 RCV003097758

NM_003560.4(PLA2G6):c.2035-926G>A

SNV
Germline

Chr22:38114580

Conflicting classifications of pathogenicity

Condition: not provided
PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA324182458

rs_930495767

4 SubmittersRCV002293068 RCV003408219 RCV003164492

NM_003560.4(PLA2G6):c.1511C>T (p.Ser504Leu)

SNV
Germline

Chr22:38123175

Conflicting classifications of pathogenicity

not specified
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA411527930

rs_2087622708

2 SubmittersRCV002302500 RCV003098023

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_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)

SNV
Germline

Chr22:38123139

Conflicting classifications of pathogenicity

not specified
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration

Criteria Provided
Conflicting Classifications

CA10230813

rs_151108668

3 SubmittersRCV003226564 RCV003064658 RCV003064657

NM_003560.4(PLA2G6):c.1974C>G (p.Asn658Lys)

SNV
Germline

Chr22:38115587

Pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411524705

rs_1048444597

1 SubmittersRCV003088506

NM_003560.4(PLA2G6):c.1670C>T (p.Ser557Leu)

SNV
Germline

Chr22:38120831

Pathogenic/Likely pathogenic

Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration

Criteria Provided
Multiple Submitters
No Conflicts

CA10230778

rs_769047790

2 SubmittersRCV002651165 RCV002651164

NM_003560.4(PLA2G6):c.1630A>T (p.Met544Leu)

SNV
Germline

Chr22:38120871

Likely pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411527571

rs_2517951819

1 SubmittersRCV002835019

NM_003560.4(PLA2G6):c.1630A>G (p.Met544Val)

SNV
Germline

Chr22:38120871

Likely pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411527574

rs_2517951819

1 SubmittersRCV003050324

NM_003560.4(PLA2G6):c.1097T>A (p.Ile366Asn)

SNV
Germline

Chr22:38129543

Conflicting classifications of pathogenicity

PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10231022

rs_778225931

2 SubmittersRCV002789942 RCV004765748

NM_003560.4(PLA2G6):c.1A>G (p.Met1Val)

SNV
Germline

Chr22:38169426

Pathogenic

PLA2G6-associated neurodegeneration
Infantile neuroaxonal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA411521186

rs_1167198937

2 SubmittersRCV002789947 RCV003507474

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_003560.4(PLA2G6):c.967G>A (p.Val323Met)

SNV
Germline

Chr22:38132941

Conflicting classifications of pathogenicity

Condition: not provided
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA411530829

rs_1456513786

3 SubmittersRCV003332447 RCV003444385

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.2276+1G>C

SNV
Germline

Chr22:38112503

Pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411523277

rs_1397030516

1 SubmittersRCV003508154

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

SNV
Germline

Chr22:38115579

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10230663

rs_767689496

3 SubmittersRCV003508541 RCV005036867

NM_003560.4(PLA2G6):c.2144G>A (p.Trp715Ter)

SNV
Germline

Chr22:38113545

Pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411523738

rs_2087008432

1 SubmittersRCV003508936

NM_003560.4(PLA2G6):c.2035-1G>A

SNV
Germline

Chr22:38113655

Likely pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411524160

rs_2517918137

1 SubmittersRCV003507040

NM_003560.4(PLA2G6):c.1882C>T (p.Gln628Ter)

SNV
Germline

Chr22:38115679

Pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411524884

rs_2087146072

1 SubmittersRCV003506939

NM_003560.4(PLA2G6):c.1501G>T (p.Glu501Ter)

SNV
Germline

Chr22:38123185

Pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411527954

rs_587784332

1 SubmittersRCV003507838

NM_003560.4(PLA2G6):c.798-1G>T

SNV
Germline

Chr22:38135085

Likely pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411531213

rs_2518020318

1 SubmittersRCV003616014

NM_003560.4(PLA2G6):c.1666G>T (p.Glu556Ter)

SNV
Germline

Chr22:38120835

Pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA10230780

rs_777259654

1 SubmittersRCV003616906

NM_003560.4(PLA2G6):c.1117G>C (p.Gly373Arg)

SNV
Germline

Chr22:38129523

Pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411530505

rs_587784327

1 SubmittersRCV003616926

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

SNV
Germline

Chr22:38129563

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA411530596

rs_2088081974

2 SubmittersRCV003617282 RCV005030236

NM_003560.4(PLA2G6):c.1592-1G>C

SNV
Germline

Chr22:38120910

Likely pathogenic

Infantile neuroaxonal dystrophy

Criteria Provided
Single Submitter

CA411527751

rs_2517952110