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Items: 1 to 100 of 157

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr22:38509568
GRCh38:
Chr22:38113561
PLA2G6R532fs, R710fs, R656fs, R478fs, R484fsPLA2G6-associated neurodegenerationUncertain significance
(Jan 24, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr22:38508200
GRCh38:
Chr22:38112193
PLA2G6Q565*, Q743*, Q797*, Q571*, Q619*PLA2G6-associated neurodegenerationUncertain significance
(Jan 24, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr22:38565433
GRCh38:
Chr22:38169426
PLA2G6M1VPLA2G6-associated neurodegenerationPathogenic
(Jan 24, 2023)		criteria provided, single submitter
4.
GRCh37:
Chr22:38565307
GRCh38:
Chr22:38169300
PLA2G6Q43*PLA2G6-associated neurodegenerationPathogenic
(Jan 24, 2023)		criteria provided, single submitter
5.
GRCh37:
Chr22:38541592
GRCh38:
Chr22:38145585
PLA2G6P93HPLA2G6-associated neurodegenerationUncertain significance
(Jan 24, 2023)		criteria provided, single submitter
6.
GRCh37:
Chr22:38536067
GRCh38:
Chr22:38140060
PLA2G6L62P, L240PPLA2G6-associated neurodegenerationUncertain significance
(Jan 24, 2023)		criteria provided, single submitter
7.
GRCh37:
Chr22:38528897
GRCh38:
Chr22:38132890
PLA2G6G162R, G114R, G340RPLA2G6-associated neurodegenerationUncertain significance
(Jan 24, 2023)		criteria provided, single submitter
8.
GRCh37:
Chr22:38525572
GRCh38:
Chr22:38129565
PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Jan 24, 2023)		criteria provided, single submitter
9.
GRCh37:
Chr22:38525550
GRCh38:
Chr22:38129543
PLA2G6I140N, I188N, I366NPLA2G6-associated neurodegenerationUncertain significance
(Jan 24, 2023)		criteria provided, single submitter
10.
GRCh37:
Chr22:38522376
GRCh38:
Chr22:38126369
PLA2G6PLA2G6-associated neurodegenerationPathogenic
(Jan 24, 2023)		criteria provided, single submitter
11.
GRCh37:
Chr22:38519221
GRCh38:
Chr22:38123214
PLA2G6L313R, L437R, L259R, L265R, L491RPLA2G6-associated neurodegenerationUncertain significance
(Jan 24, 2023)		criteria provided, single submitter
12.
GRCh37:
Chr22:38519144
GRCh38:
Chr22:38123137
PLA2G6G285C, G339C, G463C, G517C, G291CPLA2G6-associated neurodegenerationUncertain significance
(Jan 24, 2023)		criteria provided, single submitter
13.
GRCh37:
Chr22:38516838
GRCh38:
Chr22:38120831
PLA2G6S325L, S503L, S331L, S379L, S557LPLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophyPathogenic/Likely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr22:38519146
GRCh38:
Chr22:38123139
PLA2G6A284V, A290V, A338V, A462V, A516VPLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, not specified
Conflicting interpretations of pathogenicity
(Mar 17, 2023)		criteria provided, conflicting interpretations
15.
GRCh37:
Chr22:38512193-38512196
GRCh38:
Chr22:38116186-38116189
PLA2G6S363fs, S411fs, S357fs, S535fs, S589fsInfantile neuroaxonal dystrophy, PLA2G6-associated neurodegenerationPathogenic/Likely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr22:38508536
GRCh38:
Chr22:38112529
PLA2G6E519K, E573K, E697K, E525K, E751Knot provided, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation,
Infantile neuroaxonal dystrophy		Conflicting interpretations of pathogenicity
(Jul 24, 2023)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr22:38539159
GRCh38:
Chr22:38143152
PLA2G6T10A, T188APLA2G6-associated neurodegenerationUncertain significance
(Feb 2, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr22:38510587
GRCh38:
Chr22:38114580
PLA2G6not provided, PLA2G6-associated neurodegenerationConflicting interpretations of pathogenicity
(Aug 3, 2023)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr22:38536118
GRCh38:
Chr22:38140111
PLA2G6P223L, P45LInfantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation,
not provided, Neurodegeneration with brain iron accumulation 2B		Conflicting interpretations of pathogenicity
(Oct 27, 2023)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr22:38536106
GRCh38:
Chr22:38140099
PLA2G6A49V, A227VNeurodegeneration with brain iron accumulation, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
Conflicting interpretations of pathogenicity
(Oct 27, 2023)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr22:38508248
GRCh38:
Chr22:38112241
PLA2G6A555T, A603T, A549T, A727T, A781TPLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophyConflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr22:38508538
GRCh38:
Chr22:38112531
PLA2G6C518Y, C524Y, C572Y, C696Y, C750YInfantile neuroaxonal dystrophy, PLA2G6-associated neurodegenerationConflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr22:38511656
GRCh38:
Chr22:38115649
PLA2G6G406R, G412R, G460R, G584R, G638Rnot provided, PLA2G6-associated neurodegenerationLikely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr22:38511594
GRCh38:
Chr22:38115587
PLA2G6N426K, N432K, N480K, N604K, N658KPLA2G6-associated neurodegeneration, not provided, Infantile neuroaxonal dystrophy
Conflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr22:38508214
GRCh38:
Chr22:38112207
PLA2G6H560P, H566P, H614P, H738P, H792PPLA2G6-associated neurodegeneration, not providedUncertain significance
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr22:38511611
GRCh38:
Chr22:38115604
PLA2G6G421S, G427S, G475S, G599S, G653Snot specified, Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy,
PLA2G6-associated neurodegeneration		Uncertain significance
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr22:38512190
GRCh38:
Chr22:38116183
PLA2G6R359W, R365W, R413W, R537W, R591WPLA2G6-associated neurodegeneration, not provided, Infantile neuroaxonal dystrophy
Pathogenic/Likely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr22:38531041
GRCh38:
Chr22:38135034
PLA2G6D105G, D283G, D57Gnot provided, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
Conflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr22:38512163
GRCh38:
Chr22:38116156
PLA2G6R368W, R374W, R422W, R546W, R600Wnot provided, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation
Pathogenic/Likely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr22:38511670
GRCh38:
Chr22:38115663
PLA2G6A401V, A407V, A455V, A579V, A633Vnot provided, PLA2G6-associated neurodegeneration, Abnormality of the nervous system,
not specified		Conflicting interpretations of pathogenicity
(Jun 20, 2023)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr22:38508302
GRCh38:
Chr22:38112295
PLA2G6Q531*, Q537*, Q585*, Q709*, Q763*PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulationLikely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr22:38565318
GRCh38:
Chr22:38169311
PLA2G6R39QPLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy		Uncertain significance
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr22:38508240
GRCh38:
Chr22:38112233
PLA2G6W551*, W557*, W605*, W729*, W783*PLA2G6-associated neurodegeneration, not provided, Infantile neuroaxonal dystrophy
Pathogenic/Likely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr22:38508233
GRCh38:
Chr22:38112226
PLA2G6E554K, E560K, E608K, E732K, E786KPLA2G6-associated neurodegenerationUncertain significance
(Jan 24, 2023)		criteria provided, single submitter
35.
GRCh37:
Chr22:38508233
Chr22:38536118
GRCh38:
Chr22:38112226
Chr22:38140111
PLA2G6, PLA2G6E554K, E560K, E608K, E732K, E786K, P223Q, P45QInfantile neuroaxonal dystrophyPathogenic
(May 31, 2019)		no assertion criteria provided
36.
GRCh37:
Chr22:38528894
GRCh38:
Chr22:38132887
PLA2G6A115T, A163T, A341TPLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
not provided		Conflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr22:38525536
GRCh38:
Chr22:38129529
PLA2G6V145M, V193M, V371MInborn genetic diseases, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
Likely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr22:38541551
GRCh38:
Chr22:38145544
PLA2G6L107fsNeurodegeneration with brain iron accumulation 2B, PLA2G6-associated neurodegeneration, not provided
Pathogenic/Likely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr22:38536177
GRCh38:
Chr22:38140170
PLA2G6PLA2G6-associated neurodegenerationLikely pathogenic
(Mar 14, 2019)		criteria provided, single submitter
40.
GRCh37:
Chr22:38539273
GRCh38:
Chr22:38143266
PLA2G6E150KPLA2G6-associated neurodegeneration, not provided, Infantile neuroaxonal dystrophy
Uncertain significance
(Oct 25, 2023)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr22:38536010
GRCh38:
Chr22:38140003
PLA2G6A259D, A81DPLA2G6-associated neurodegenerationUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr22:38511591
GRCh38:
Chr22:38115584
PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Feb 16, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr22:38511540
GRCh38:
Chr22:38115533
PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr22:38508213
GRCh38:
Chr22:38112206
PLA2G6H560Q, H566Q, H614Q, H738Q, H792QPLA2G6-associated neurodegenerationUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr22:38508133
GRCh38:
Chr22:38112126
PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr22:38530989
GRCh38:
Chr22:38134982
PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
47.
GRCh37:
Chr22:38530987
GRCh38:
Chr22:38134980
PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr22:38577755
GRCh38:
Chr22:38181748
LOC112695092, PLA2G6PLA2G6-associated neurodegenerationBenign
(Apr 27, 2017)		criteria provided, single submitter
49.
GRCh37:
Chr22:38507675
GRCh38:
Chr22:38111668
PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr22:38507653
GRCh38:
Chr22:38111646
PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Apr 27, 2017)		criteria provided, single submitter
51.
GRCh37:
Chr22:38565367
GRCh38:
Chr22:38169360
PLA2G6R23WPLA2G6-associated neurodegenerationUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
52.
GRCh37:
Chr22:38565279
GRCh38:
Chr22:38169272
PLA2G6N52SPLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophyUncertain significance
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr22:38524266
GRCh38:
Chr22:38128259
PLA2G6Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegenerationConflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr22:38516908
GRCh38:
Chr22:38120901
PLA2G6M302V, M356V, M534V, M308V, M480VPLA2G6-associated neurodegenerationUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr22:38516894
GRCh38:
Chr22:38120887
PLA2G6not provided, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
Conflicting interpretations of pathogenicity
(May 1, 2023)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr22:38507548
GRCh38:
Chr22:38111541
PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
57.
GRCh37:
Chr22:38507496
GRCh38:
Chr22:38111489
PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr22:38507492
GRCh38:
Chr22:38111485
PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr22:38516881
GRCh38:
Chr22:38120874
PLA2G6R311C, R317C, R543C, R365C, R489Cnot provided, PLA2G6-associated neurodegenerationPathogenic/Likely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr22:38528959
GRCh38:
Chr22:38132952
PLA2G6T141M, T93M, T319Mnot specified, PLA2G6-associated neurodegeneration, not provided,
Infantile neuroaxonal dystrophy		Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr22:38522378
GRCh38:
Chr22:38126371
PLA2G6T298I, T422I, T244I, T250I, T476IInfantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, not provided,
Inborn genetic diseases		Conflicting interpretations of pathogenicity
(Sep 1, 2023)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr22:38524438
GRCh38:
Chr22:38128431
PLA2G6PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophyConflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr22:38536029
GRCh38:
Chr22:38140022
PLA2G6G253S, G75SPLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophyConflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr22:38519198
GRCh38:
Chr22:38123191
PLA2G6A267T, A499T, A273T, A445T, A321TInfantile neuroaxonal dystrophy, PLA2G6-related condition, PLA2G6-associated neurodegeneration
Conflicting interpretations of pathogenicity
(Oct 9, 2023)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr22:38512183
GRCh38:
Chr22:38116176
PLA2G6P415L, P539L, P593L, P367L, P361LPLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophyConflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr22:38511585
GRCh38:
Chr22:38115578
PLA2G6Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration, not provided
Conflicting interpretations of pathogenicity
(Apr 25, 2022)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr22:38529025
GRCh38:
Chr22:38133018
PLA2G6PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, not provided
Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr22:38528949
GRCh38:
Chr22:38132942
PLA2G6not provided, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration,
not specified		Conflicting interpretations of pathogenicity
(Mar 1, 2023)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr22:38525460
GRCh38:
Chr22:38129453
PLA2G6not provided, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
Pathogenic/Likely pathogenic
(Oct 23, 2023)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr22:38541545
GRCh38:
Chr22:38145538
PLA2G6H109DInfantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, PLA2G6-associated neurodegeneration,
not provided, Infantile neuroaxonal dystrophy		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr22:38516918
GRCh38:
Chr22:38120911
PLA2G6PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophyPathogenic/Likely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr22:38528924
GRCh38:
Chr22:38132917
PLA2G6D331N, D105N, D153NPLA2G6-associated neurodegeneration, not provided, Infantile neuroaxonal dystrophy,
not specified		Conflicting interpretations of pathogenicity
(Feb 13, 2023)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr22:38508314
GRCh38:
Chr22:38112307
PLA2G6Infantile neuroaxonal dystrophy, not provided, PLA2G6-associated neurodegeneration
Conflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr22:38565418
GRCh38:
Chr22:38169411
PLA2G6R6CInborn genetic diseases, not provided, PLA2G6-associated neurodegeneration,
Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Infantile neuroaxonal dystrophy		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr22:38541474
GRCh38:
Chr22:38145467
PLA2G6not provided, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
Conflicting interpretations of pathogenicity
(Aug 30, 2022)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr22:38519161
GRCh38:
Chr22:38123154
PLA2G6L511P, L279P, L285P, L333P, L457PPLA2G6-associated neurodegeneration, not providedConflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
77.
GRCh37:
Chr22:38522377
GRCh38:
Chr22:38126370
PLA2G6not provided, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
Pathogenic/Likely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr22:38541572
GRCh38:
Chr22:38145565
PLA2G6Q100*not provided, PLA2G6-associated neurodegenerationLikely pathogenic
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr22:38541454
GRCh38:
Chr22:38145447
PLA2G6R139Hnot provided, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
Conflicting interpretations of pathogenicity
(Jul 1, 2023)		criteria provided, conflicting interpretations
80.
Infantile neuroaxonal dystrophyLikely pathogenic
(Oct 3, 2013)		no assertion criteria provided
81.
GRCh37:
Chr22:38519097
GRCh38:
Chr22:38123090
PLA2G6PLA2G6-associated neurodegeneration, not providedConflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
82.
GRCh37:
Chr22:38509567
GRCh38:
Chr22:38113560
PLA2G6R656H, R710H, R532H, R484H, R478HPLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, not provided,
Abnormal brain morphology		Conflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
83.
GRCh37:
Chr22:38565225
GRCh38:
Chr22:38169218
PLA2G6R70QInfantile neuroaxonal dystrophy, not provided, PLA2G6-associated neurodegeneration,
Spastic ataxia		Conflicting interpretations of pathogenicity
(Aug 23, 2022)		criteria provided, conflicting interpretations
84.
GRCh37:
Chr22:38511589
GRCh38:
Chr22:38115582
PLA2G6P660R, P428R, P482R, P434R, P606RPLA2G6-associated neurodegeneration, not providedConflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr22:38577754
GRCh38:
Chr22:38181747
LOC112695092, PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr22:38565464
GRCh38:
Chr22:38169457
PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr22:38565453
GRCh38:
Chr22:38169446
PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
88.
GRCh37:
Chr22:38565448
GRCh38:
Chr22:38169441
PLA2G6PLA2G6-associated neurodegenerationUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr22:38565343
GRCh38:
Chr22:38169336
PLA2G6D31NAutosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Inborn genetic diseases, PLA2G6-associated neurodegeneration, not provided,
Infantile neuroaxonal dystrophy		Conflicting interpretations of pathogenicity
(Sep 6, 2023)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr22:38565333
GRCh38:
Chr22:38169326
PLA2G6S34LAutosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
not specified, PLA2G6-associated neurodegeneration, not provided,
Infantile neuroaxonal dystrophy		Conflicting interpretations of pathogenicity
(Oct 20, 2022)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr22:38541604
GRCh38:
Chr22:38145597
PLA2G6S89YPLA2G6-associated neurodegeneration, not provided, Infantile neuroaxonal dystrophy
Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
92.
GRCh37:
Chr22:38539282
GRCh38:
Chr22:38143275
PLA2G6A147Tnot specified, not provided, PLA2G6-associated neurodegeneration,
Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Infantile neuroaxonal dystrophy		Uncertain significance
(Aug 18, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr22:38539280
GRCh38:
Chr22:38143273
PLA2G6PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophyConflicting interpretations of pathogenicity
(Mar 2, 2022)		criteria provided, conflicting interpretations
94.
GRCh37:
Chr22:38536013
GRCh38:
Chr22:38140006
PLA2G6S258L, S80LPLA2G6-associated neurodegeneration, not provided, Infantile neuroaxonal dystrophy
Conflicting interpretations of pathogenicity
(Jun 9, 2023)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr22:38529031
GRCh38:
Chr22:38133024
PLA2G6Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegenerationConflicting interpretations of pathogenicity
(Sep 4, 2022)		criteria provided, conflicting interpretations
96.
GRCh37:
Chr22:38528925
GRCh38:
Chr22:38132918
PLA2G6not provided, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
Benign/Likely benign
(Jan 1, 2023)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr22:38528920
GRCh38:
Chr22:38132913
PLA2G6C332S, C106S, C154Snot provided, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
Uncertain significance
(May 11, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr22:38524419
GRCh38:
Chr22:38128412
PLA2G6I402N, I176N, I224Nnot provided, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
Uncertain significance
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr22:38524357
GRCh38:
Chr22:38128350
PLA2G6A423T, A245T, A197TPLA2G6-associated neurodegeneration, not provided, Inborn genetic diseases,
Infantile neuroaxonal dystrophy		Conflicting interpretations of pathogenicity
(Feb 16, 2023)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr22:38522391
GRCh38:
Chr22:38126384
PLA2G6D472N, D418N, D246N, D240N, D294Nnot provided, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
Uncertain significance
(Jun 4, 2022)		criteria provided, multiple submitters, no conflicts
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