ClinVar for MedGen (Select 82852) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26274511.	NM_003560.4(PLA2G6):c.1816del (p.Glu606fs) GRCh37: Chr22:38512145 GRCh38: Chr22:38116138	PLA2G6	E374fs, E380fs, E428fs, E552fs, E606fs	Infantile neuroaxonal dystrophy	Likely pathogenic	criteria provided, single submitter
Select item 25817412.	NM_003560.4(PLA2G6):c.967G>A (p.Val323Met) GRCh37: Chr22:38528948 GRCh38: Chr22:38132941	PLA2G6	V145M, V323M, V97M	Infantile neuroaxonal dystrophy, not provided	Conflicting interpretations of pathogenicity (Sep 15, 2023)	criteria provided, conflicting interpretations
Select item 24319043.	NM_003560.4(PLA2G6):c.911T>C (p.Leu304Pro) GRCh37: Chr22:38529004 GRCh38: Chr22:38132997	PLA2G6	L126P, L304P, L78P	Infantile neuroaxonal dystrophy	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 24315884.	NM_003560.4(PLA2G6):c.434A>G (p.Asn145Ser) GRCh37: Chr22:38539287 GRCh38: Chr22:38143280	PLA2G6	N145S	Infantile neuroaxonal dystrophy	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 24247035.	NC_000022.10:g.(?_38535969)_(38536196_?)del GRCh37: Chr22:38535969-38536196	PLA2G6		Infantile neuroaxonal dystrophy	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 24247026.	NC_000022.10:g.(?_38541425)_(38541680_?)del GRCh37: Chr22:38541425-38541680	PLA2G6		Infantile neuroaxonal dystrophy	Likely pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 24241017.	NC_000022.10:g.(?_37154355)_(39148633_?)del GRCh37: Chr22:37154355-39148633	ANKRD54, BAIAP2L2, C1QTNF6, C22orf23, CARD10, CBY1, CDC42EP1, CIMIP4, CSF2RB, CSNK1E, CYTH4, DDX17, DMC1, EIF3L, ELFN2, FAM227A, GALR3, GCAT, GGA1, GTPBP1, H1-0, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, LGALS1, LGALS2, MAFF, MFNG, MICALL1, MIR659, MPST, NCF4, NOL12, PDXP, PICK1, PLA2G6, POLR2F, PVALB, RAC2, SH3BP1, SLC16A8, SOX10, SSTR3, SUN2, TMEM184B, TMPRSS6, TOMM22, TRIOBP, TST		Infantile neuroaxonal dystrophy, Myoclonic dystonia 26, Emery-Dreifuss muscular dystrophy	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 24219668.	NM_003560.4(PLA2G6):c.746T>C (p.Met249Thr) GRCh37: Chr22:38536040 GRCh38: Chr22:38140033	PLA2G6	M249T, M71T	Infantile neuroaxonal dystrophy	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 24210619.	NM_003560.4(PLA2G6):c.2101G>A (p.Val701Met) GRCh37: Chr22:38509595 GRCh38: Chr22:38113588	PLA2G6	V469M, V475M, V523M, V647M, V701M	Infantile neuroaxonal dystrophy	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 241737110.	NM_003560.4(PLA2G6):c.1422G>T (p.Lys474Asn) GRCh37: Chr22:38522383 GRCh38: Chr22:38126376	PLA2G6	K242N, K248N, K296N, K420N, K474N	Infantile neuroaxonal dystrophy	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 241734311.	NM_003560.4(PLA2G6):c.102G>A (p.Ser34=) GRCh37: Chr22:38565332 GRCh38: Chr22:38169325	PLA2G6		not provided, Infantile neuroaxonal dystrophy	Likely benign (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241597212.	NM_003560.4(PLA2G6):c.927C>T (p.Asn309=) GRCh37: Chr22:38528988 GRCh38: Chr22:38132981	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 241566513.	NM_003560.4(PLA2G6):c.1149G>A (p.Gly383=) GRCh37: Chr22:38525498 GRCh38: Chr22:38129491	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 241389714.	NM_003560.4(PLA2G6):c.1078-17C>T GRCh37: Chr22:38525586 GRCh38: Chr22:38129579	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 220080815.	NM_003560.4(PLA2G6):c.534G>C (p.Gln178His) GRCh37: Chr22:38539187 GRCh38: Chr22:38143180	PLA2G6	Q178H, R15T	Infantile neuroaxonal dystrophy	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 220033416.	NM_003560.4(PLA2G6):c.1899G>A (p.Ala633=) GRCh37: Chr22:38511669 GRCh38: Chr22:38115662	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 219962117.	NM_003560.4(PLA2G6):c.1077+14C>T GRCh37: Chr22:38528824 GRCh38: Chr22:38132817	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 219752218.	NM_003560.4(PLA2G6):c.796G>A (p.Gly266Arg) GRCh37: Chr22:38535990 GRCh38: Chr22:38139983	PLA2G6	G266R, G88R	Infantile neuroaxonal dystrophy	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 219676619.	NM_003560.4(PLA2G6):c.1670C>T (p.Ser557Leu) GRCh37: Chr22:38516838 GRCh38: Chr22:38120831	PLA2G6	S325L, S503L, S331L, S379L, S557L	PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219462220.	NM_003560.4(PLA2G6):c.17G>A (p.Arg6His) GRCh37: Chr22:38565417 GRCh38: Chr22:38169410	PLA2G6	R6H	Infantile neuroaxonal dystrophy	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 219429021.	NM_003560.4(PLA2G6):c.407A>G (p.His136Arg) GRCh37: Chr22:38541463 GRCh38: Chr22:38145456	PLA2G6	H136R	Infantile neuroaxonal dystrophy	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 218801222.	NM_003560.4(PLA2G6):c.1992C>T (p.Ala664=) GRCh37: Chr22:38511576 GRCh38: Chr22:38115569	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 218765223.	NM_003560.4(PLA2G6):c.1747A>T (p.Met583Leu) GRCh37: Chr22:38512214 GRCh38: Chr22:38116207	PLA2G6	M351L, M357L, M405L, M583L, M529L	Infantile neuroaxonal dystrophy	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 218540424.	NM_003560.4(PLA2G6):c.546C>T (p.Thr182=) GRCh37: Chr22:38539175 GRCh38: Chr22:38143168	PLA2G6	P19L	Infantile neuroaxonal dystrophy	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 218501325.	NM_003560.4(PLA2G6):c.647T>G (p.Val216Gly) GRCh37: Chr22:38536139 GRCh38: Chr22:38140132	PLA2G6	V216G, V38G	Infantile neuroaxonal dystrophy	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 218255326.	NM_003560.4(PLA2G6):c.1349-18C>G GRCh37: Chr22:38522474 GRCh38: Chr22:38126467	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 218057527.	NM_003560.4(PLA2G6):c.774G>A (p.Ser258=) GRCh37: Chr22:38536012 GRCh38: Chr22:38140005	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 218022528.	NM_003560.4(PLA2G6):c.2358G>T (p.Glu786Asp) GRCh37: Chr22:38508231 GRCh38: Chr22:38112224	PLA2G6	E608D, E554D, E560D, E786D, E732D	Infantile neuroaxonal dystrophy	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 217051729.	NM_003560.4(PLA2G6):c.2326A>G (p.Thr776Ala) GRCh37: Chr22:38508263 GRCh38: Chr22:38112256	PLA2G6	T722A, T550A, T544A, T598A, T776A	Infantile neuroaxonal dystrophy	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 217005730.	NM_003560.4(PLA2G6):c.1974C>G (p.Asn658Lys) GRCh37: Chr22:38511594 GRCh38: Chr22:38115587	PLA2G6	N426K, N432K, N658K, N604K, N480K	Infantile neuroaxonal dystrophy	Pathogenic (Jul 30, 2022)	criteria provided, single submitter
Select item 216934831.	NM_003560.4(PLA2G6):c.2277-13C>T GRCh37: Chr22:38508325 GRCh38: Chr22:38112318	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 216734032.	NM_003560.4(PLA2G6):c.1257C>T (p.His419=) GRCh37: Chr22:38524367 GRCh38: Chr22:38128360	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 216489633.	NM_003560.4(PLA2G6):c.1247C>T (p.Pro416Leu) GRCh37: Chr22:38524377 GRCh38: Chr22:38128370	PLA2G6	P238L, P416L, P190L	Infantile neuroaxonal dystrophy	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 216351934.	NM_003560.4(PLA2G6):c.1269G>A (p.Ala423=) GRCh37: Chr22:38524355 GRCh38: Chr22:38128348	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 216212235.	NM_003560.4(PLA2G6):c.154A>G (p.Asn52Asp) GRCh37: Chr22:38565280 GRCh38: Chr22:38169273	PLA2G6	N52D	Infantile neuroaxonal dystrophy	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 216021136.	NM_003560.4(PLA2G6):c.348C>T (p.Asn116=) GRCh37: Chr22:38541522 GRCh38: Chr22:38145515	PLA2G6		Infantile neuroaxonal dystrophy, not provided	Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215987837.	NM_003560.4(PLA2G6):c.90C>T (p.Ala30=) GRCh37: Chr22:38565344 GRCh38: Chr22:38169337	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 215777638.	NM_003560.4(PLA2G6):c.1914G>A (p.Gly638=) GRCh37: Chr22:38511654 GRCh38: Chr22:38115647	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 215682939.	NM_003560.4(PLA2G6):c.1742+13G>A GRCh37: Chr22:38516753 GRCh38: Chr22:38120746	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 215423940.	NM_003560.4(PLA2G6):c.1512G>A (p.Ser504=) GRCh37: Chr22:38519181 GRCh38: Chr22:38123174	PLA2G6		Infantile neuroaxonal dystrophy, not provided	Uncertain significance (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215219841.	NC_000022.11:g.38169211CACC[3] GRCh37: Chr22:38565217-38565218 GRCh38: Chr22:38169210-38169211	PLA2G6		Infantile neuroaxonal dystrophy	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 215216642.	NM_003560.4(PLA2G6):c.479G>C (p.Cys160Ser) GRCh37: Chr22:38539242 GRCh38: Chr22:38143235	PLA2G6	C160S	Infantile neuroaxonal dystrophy	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 215054443.	NM_003560.4(PLA2G6):c.1028C>T (p.Ala343Val) GRCh37: Chr22:38528887 GRCh38: Chr22:38132880	PLA2G6	A165V, A117V, A343V	Infantile neuroaxonal dystrophy	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 214715144.	NM_003560.4(PLA2G6):c.1482C>T (p.Ile494=) GRCh37: Chr22:38519211 GRCh38: Chr22:38123204	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 214462345.	NM_003560.4(PLA2G6):c.853C>T (p.Arg285Cys) GRCh37: Chr22:38531036 GRCh38: Chr22:38135029	PLA2G6	R285C, R107C, R59C	Infantile neuroaxonal dystrophy	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 214147146.	NM_003560.4(PLA2G6):c.158G>A (p.Arg53His) GRCh37: Chr22:38565276 GRCh38: Chr22:38169269	PLA2G6	R53H	Infantile neuroaxonal dystrophy	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 213993547.	NM_003560.4(PLA2G6):c.40G>A (p.Val14Ile) GRCh37: Chr22:38565394 GRCh38: Chr22:38169387	PLA2G6	V14I	Infantile neuroaxonal dystrophy	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 213845048.	NM_003560.4(PLA2G6):c.609G>A (p.Gln203=) GRCh37: Chr22:38539112 GRCh38: Chr22:38143105	PLA2G6	R40K	Infantile neuroaxonal dystrophy	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 213844949.	NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val) GRCh37: Chr22:38519146 GRCh38: Chr22:38123139	PLA2G6	A284V, A290V, A338V, A462V, A516V	PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, not specified	Conflicting interpretations of pathogenicity (Mar 17, 2023)	criteria provided, conflicting interpretations
Select item 213844850.	NM_003560.4(PLA2G6):c.1765_1768del (p.Ser589fs) GRCh37: Chr22:38512193-38512196 GRCh38: Chr22:38116186-38116189	PLA2G6	S363fs, S411fs, S357fs, S535fs, S589fs	Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213844751.	NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys) GRCh37: Chr22:38508536 GRCh38: Chr22:38112529	PLA2G6	E519K, E573K, E697K, E525K, E751K	not provided, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation, Infantile neuroaxonal dystrophy	Conflicting interpretations of pathogenicity (Jul 24, 2023)	criteria provided, conflicting interpretations
Select item 213008552.	NM_003560.4(PLA2G6):c.1630A>G (p.Met544Val) GRCh37: Chr22:38516878 GRCh38: Chr22:38120871	PLA2G6	M318V, M366V, M544V, M312V, M490V	Infantile neuroaxonal dystrophy	Likely pathogenic (Oct 26, 2022)	criteria provided, single submitter
Select item 212138053.	NM_003560.4(PLA2G6):c.1460del (p.Gly487fs) GRCh37: Chr22:38519233 GRCh38: Chr22:38123226	PLA2G6	G255fs, G261fs, G309fs, G433fs, G487fs	Infantile neuroaxonal dystrophy	Pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 212093054.	NM_003560.4(PLA2G6):c.1642G>A (p.Val548Met) GRCh37: Chr22:38516866 GRCh38: Chr22:38120859	PLA2G6	V322M, V370M, V548M, V316M, V494M	Infantile neuroaxonal dystrophy	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 211941955.	NM_003560.4(PLA2G6):c.1628G>C (p.Arg543Pro) GRCh37: Chr22:38516880 GRCh38: Chr22:38120873	PLA2G6	R543P, R317P, R489P, R311P, R365P	Infantile neuroaxonal dystrophy	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 211941856.	NM_003560.4(PLA2G6):c.1675C>T (p.Pro559Ser) GRCh37: Chr22:38516833 GRCh38: Chr22:38120826	PLA2G6	P327S, P559S, P333S, P505S, P381S	Infantile neuroaxonal dystrophy	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 211494257.	NM_003560.4(PLA2G6):c.1729G>T (p.Val577Phe) GRCh37: Chr22:38516779 GRCh38: Chr22:38120772	PLA2G6	V351F, V523F, V345F, V399F, V577F	Infantile neuroaxonal dystrophy	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 211058358.	NM_003560.4(PLA2G6):c.1591+20A>T GRCh37: Chr22:38519082 GRCh38: Chr22:38123075	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 210893459.	NM_003560.4(PLA2G6):c.1265C>T (p.Pro422Leu) GRCh37: Chr22:38524359 GRCh38: Chr22:38128352	PLA2G6	P244L, P422L, P196L	Infantile neuroaxonal dystrophy	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 210805460.	NM_003560.4(PLA2G6):c.880G>C (p.Ala294Pro) GRCh37: Chr22:38531009 GRCh38: Chr22:38135002	PLA2G6	A294P, A116P, A68P	Infantile neuroaxonal dystrophy	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210729361.	NM_003560.4(PLA2G6):c.1133C>A (p.Thr378Asn) GRCh37: Chr22:38525514 GRCh38: Chr22:38129507	PLA2G6	T200N, T152N, T378N	Infantile neuroaxonal dystrophy	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 210718562.	NM_003560.4(PLA2G6):c.1186+13_1186+19del GRCh37: Chr22:38525442-38525448 GRCh38: Chr22:38129435-38129441	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 209861363.	NM_003560.4(PLA2G6):c.141C>T (p.Phe47=) GRCh37: Chr22:38565293 GRCh38: Chr22:38169286	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 209672364.	NM_003560.4(PLA2G6):c.609+17G>A GRCh37: Chr22:38539095 GRCh38: Chr22:38143088	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 208866365.	NM_003560.4(PLA2G6):c.1368C>T (p.His456=) GRCh37: Chr22:38522437 GRCh38: Chr22:38126430	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 208621166.	NM_003560.4(PLA2G6):c.1911C>T (p.Ser637=) GRCh37: Chr22:38511657 GRCh38: Chr22:38115650	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 208458567.	NM_003560.4(PLA2G6):c.711C>T (p.Arg237=) GRCh37: Chr22:38536075 GRCh38: Chr22:38140068	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 207925068.	NM_003560.4(PLA2G6):c.104G>A (p.Ser35Asn) GRCh37: Chr22:38565330 GRCh38: Chr22:38169323	PLA2G6	S35N	Infantile neuroaxonal dystrophy	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 207909369.	NM_003560.4(PLA2G6):c.1788C>T (p.Leu596=) GRCh37: Chr22:38512173 GRCh38: Chr22:38116166	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 207826570.	NM_003560.4(PLA2G6):c.1428C>A (p.Thr476=) GRCh37: Chr22:38519265 GRCh38: Chr22:38123258	PLA2G6		Infantile neuroaxonal dystrophy	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 207803671.	NM_003560.4(PLA2G6):c.1732A>G (p.Arg578Gly) GRCh37: Chr22:38516776 GRCh38: Chr22:38120769	PLA2G6	R352G, R524G, R578G, R400G, R346G	Infantile neuroaxonal dystrophy	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 207641672.	NM_003560.4(PLA2G6):c.565G>A (p.Val189Ile) GRCh37: Chr22:38539156 GRCh38: Chr22:38143149	PLA2G6	V11I, V189I	Infantile neuroaxonal dystrophy	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 207501373.	NM_003560.4(PLA2G6):c.397G>A (p.Glu133Lys) GRCh37: Chr22:38541473 GRCh38: Chr22:38145466	PLA2G6	E133K	Infantile neuroaxonal dystrophy	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 207065974.	NM_003560.4(PLA2G6):c.1037G>A (p.Arg346His) GRCh37: Chr22:38528878 GRCh38: Chr22:38132871	PLA2G6	R120H, R168H, R346H	not provided, Infantile neuroaxonal dystrophy	Uncertain significance (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206813875.	NM_003560.4(PLA2G6):c.1029G>A (p.Ala343=) GRCh37: Chr22:38528886 GRCh38: Chr22:38132879	PLA2G6		not provided, Infantile neuroaxonal dystrophy	Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206771976.	NM_003560.4(PLA2G6):c.110G>A (p.Arg37Gln) GRCh37: Chr22:38565324 GRCh38: Chr22:38169317	PLA2G6	R37Q	Infantile neuroaxonal dystrophy	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 206661977.	NM_003560.4(PLA2G6):c.1027G>C (p.Ala343Pro) GRCh37: Chr22:38528888 GRCh38: Chr22:38132881	PLA2G6	A117P, A343P, A165P	Infantile neuroaxonal dystrophy	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 206640378.	NM_003560.4(PLA2G6):c.1078-20C>T GRCh37: Chr22:38525589 GRCh38: Chr22:38129582	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 206432079.	NM_003560.4(PLA2G6):c.2276+17C>T GRCh37: Chr22:38508494 GRCh38: Chr22:38112487	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 206108980.	NM_003560.4(PLA2G6):c.1417G>C (p.Glu473Gln) GRCh37: Chr22:38522388 GRCh38: Chr22:38126381	PLA2G6	E295Q, E473Q, E241Q, E247Q, E419Q	Infantile neuroaxonal dystrophy	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 205771981.	NM_003560.4(PLA2G6):c.669G>A (p.Pro223=) GRCh37: Chr22:38536117 GRCh38: Chr22:38140110	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 205683082.	NM_003560.4(PLA2G6):c.2367C>T (p.Ile789=) GRCh37: Chr22:38508222 GRCh38: Chr22:38112215	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 205670183.	NM_003560.4(PLA2G6):c.1400T>C (p.Leu467Pro) GRCh37: Chr22:38522405 GRCh38: Chr22:38126398	PLA2G6	L241P, L467P, L289P, L413P, L235P	Infantile neuroaxonal dystrophy	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 205639584.	NM_003560.4(PLA2G6):c.2208G>A (p.Thr736=) GRCh37: Chr22:38508579 GRCh38: Chr22:38112572	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 205582485.	NM_003560.4(PLA2G6):c.1834C>T (p.Arg612Cys) GRCh37: Chr22:38512127 GRCh38: Chr22:38116120	PLA2G6	R380C, R434C, R612C, R386C, R558C	Infantile neuroaxonal dystrophy	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 205432286.	NM_003560.4(PLA2G6):c.1168G>A (p.Ala390Thr) GRCh37: Chr22:38525479 GRCh38: Chr22:38129472	PLA2G6	A164T, A212T, A390T	Infantile neuroaxonal dystrophy	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 205403787.	NM_003560.4(PLA2G6):c.733C>T (p.Arg245Trp) GRCh37: Chr22:38536053 GRCh38: Chr22:38140046	PLA2G6	R245W, R67W	Infantile neuroaxonal dystrophy	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 205364188.	NM_003560.4(PLA2G6):c.979C>T (p.Arg327Cys) GRCh37: Chr22:38528936 GRCh38: Chr22:38132929	PLA2G6	R101C, R149C, R327C	Infantile neuroaxonal dystrophy	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 205226789.	NM_003560.4(PLA2G6):c.75G>T (p.Lys25Asn) GRCh37: Chr22:38565359 GRCh38: Chr22:38169352	PLA2G6	K25N	Infantile neuroaxonal dystrophy	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 204929190.	NM_003560.4(PLA2G6):c.2250C>T (p.Cys750=) GRCh37: Chr22:38508537 GRCh38: Chr22:38112530	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 204817291.	NM_003560.4(PLA2G6):c.901C>G (p.Arg301Gly) GRCh37: Chr22:38529014 GRCh38: Chr22:38133007	PLA2G6	R301G, R123G, R75G	Infantile neuroaxonal dystrophy	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 204789492.	NM_003560.4(PLA2G6):c.1628G>A (p.Arg543His) GRCh37: Chr22:38516880 GRCh38: Chr22:38120873	PLA2G6	R543H, R311H, R317H, R365H, R489H	Infantile neuroaxonal dystrophy	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 204312293.	NM_003560.4(PLA2G6):c.1348+17G>A GRCh37: Chr22:38524259 GRCh38: Chr22:38128252	PLA2G6		Infantile neuroaxonal dystrophy	Benign (Oct 30, 2022)	criteria provided, single submitter
Select item 204160794.	NM_003560.4(PLA2G6):c.2277-15C>T GRCh37: Chr22:38508327 GRCh38: Chr22:38112320	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 203866795.	NM_003560.4(PLA2G6):c.1530C>T (p.Asp510=) GRCh37: Chr22:38519163 GRCh38: Chr22:38123156	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 203721096.	NM_003560.4(PLA2G6):c.1077+16C>T GRCh37: Chr22:38528822 GRCh38: Chr22:38132815	PLA2G6		Infantile neuroaxonal dystrophy	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 203720397.	NM_003560.4(PLA2G6):c.2091G>C (p.Arg697Ser) GRCh37: Chr22:38509605 GRCh38: Chr22:38113598	PLA2G6	R465S, R471S, R643S, R519S, R697S	Infantile neuroaxonal dystrophy	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 203141598.	NM_003560.4(PLA2G6):c.741C>T (p.Asn247=) GRCh37: Chr22:38536045 GRCh38: Chr22:38140038	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 203006899.	NM_003560.4(PLA2G6):c.1218G>A (p.Leu406=) GRCh37: Chr22:38524406 GRCh38: Chr22:38128399	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 2023304100.	NM_003560.4(PLA2G6):c.425+16A>G GRCh37: Chr22:38541429 GRCh38: Chr22:38145422	PLA2G6		Infantile neuroaxonal dystrophy	Likely benign (Aug 9, 2022)	criteria provided, single submitter

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