ClinVar for MedGen (Select 862791) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25828581.	NM_001368809.2(AMPD2):c.2170GAG[1] (p.Glu725del) GRCh37: Chr1:110173316-110173318 GRCh38: Chr1:109630694-109630696	AMPD2	E661del, E698del, E704del, E725del, E779del	Pontocerebellar hypoplasia type 9, not provided	Uncertain significance (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25051052.	NM_001368809.2(AMPD2):c.2089G>C (p.Glu697Gln) GRCh37: Chr1:110172960 GRCh38: Chr1:109630338	AMPD2	E633Q, E670Q, E676Q, E697Q, E751Q	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	not provided	no assertion provided
Select item 25030473.	NM_001368809.2(AMPD2):c.1858C>A (p.Arg620Ser) GRCh37: Chr1:110172108 GRCh38: Chr1:109629486	AMPD2	R556S, R593S, R599S, R620S, R674S	Pontocerebellar hypoplasia type 9	Likely pathogenic (May 27, 2023)	criteria provided, single submitter
Select item 24240314.	NC_000001.10:g.(?_108679275)_(111674176_?)del GRCh37: Chr1:108679275-111674176	AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, ATXN7L2, CD53, CELSR2, CFAP276, CLCC1, CSF1, CYB561D1, DRAM2, EEIG2, ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, LAMTOR5, LRIF1, MIR197, MYBPHL, NBPF4, NBPF6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, SARS1, SLC16A4, SLC25A24, SLC6A17, SORT1, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, WDR47		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Pathogenic (May 31, 2022)	criteria provided, single submitter
Select item 24212445.	NM_001368809.2(AMPD2):c.1513G>A (p.Val505Ile) GRCh37: Chr1:110171370 GRCh38: Chr1:109628748	AMPD2, LOC126805822	V441I, V478I, V484I, V505I, V559I	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Inborn genetic diseases	Uncertain significance (Aug 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24171956.	NM_001368809.2(AMPD2):c.1571+19G>A GRCh37: Chr1:110171447 GRCh38: Chr1:109628825	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 22018457.	NM_001368809.2(AMPD2):c.353+8C>A GRCh37: Chr1:110168422 GRCh38: Chr1:109625800	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 21974248.	NM_001368809.2(AMPD2):c.120G>A (p.Pro40=) GRCh37: Chr1:110167953 GRCh38: Chr1:109625331	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 21974229.	NM_001368809.2(AMPD2):c.1474C>T (p.Arg492Cys) GRCh37: Chr1:110171331 GRCh38: Chr1:109628709	AMPD2, LOC126805822	R428C, R471C, R465C, R492C, R546C	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 219611410.	NM_001368809.2(AMPD2):c.853G>A (p.Asp285Asn) GRCh37: Chr1:110169931 GRCh38: Chr1:109627309	AMPD2	D258N, D264N, D221N, D285N, D339N	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 218774411.	NM_001368809.2(AMPD2):c.2268+11G>A GRCh37: Chr1:110173426 GRCh38: Chr1:109630804	AMPD2		Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 218686012.	NM_001368809.2(AMPD2):c.719-13C>T GRCh37: Chr1:110169784 GRCh38: Chr1:109627162	AMPD2		Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Likely benign (Dec 7, 2021)	criteria provided, single submitter
Select item 218619313.	NM_001368809.2(AMPD2):c.152C>T (p.Ala51Val) GRCh37: Chr1:110167985 GRCh38: Chr1:109625363	AMPD2	A24V, A51V, A105V	Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 218178014.	NM_001368809.2(AMPD2):c.2360G>A (p.Gly787Asp) GRCh37: Chr1:110173656 GRCh38: Chr1:109631034	AMPD2	G766D, G787D, G723D, G760D, G841D	Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 218106515.	NM_001368809.2(AMPD2):c.1478C>T (p.Ser493Leu) GRCh37: Chr1:110171335 GRCh38: Chr1:109628713	AMPD2, LOC126805822	S493L, S466L, S429L, S547L, S472L	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 216687616.	NM_001368809.2(AMPD2):c.151G>A (p.Ala51Thr) GRCh37: Chr1:110167984 GRCh38: Chr1:109625362	AMPD2	A105T, A24T, A51T	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 216653117.	NM_001368809.2(AMPD2):c.2254G>T (p.Gly752Cys) GRCh37: Chr1:110173401 GRCh38: Chr1:109630779	AMPD2	G688C, G725C, G731C, G806C, G752C	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 216598218.	NM_001368809.2(AMPD2):c.1971C>T (p.Leu657=) GRCh37: Chr1:110172526 GRCh38: Chr1:109629904	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 216492819.	NM_001368809.2(AMPD2):c.842G>A (p.Arg281His) GRCh37: Chr1:110169920 GRCh38: Chr1:109627298	AMPD2	R254H, R281H, R260H, R335H, R217H	Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 216389720.	NM_001368809.2(AMPD2):c.2158-6G>C GRCh37: Chr1:110173299 GRCh38: Chr1:109630677	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 216016521.	NM_001368809.2(AMPD2):c.1503G>A (p.Ala501=) GRCh37: Chr1:110171360 GRCh38: Chr1:109628738	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 215945622.	NM_001368809.2(AMPD2):c.467G>A (p.Arg156Gln) GRCh37: Chr1:110168985 GRCh38: Chr1:109626363	AMPD2	R92Q, R156Q, R210Q, R135Q, R129Q	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 215909823.	NM_001368809.2(AMPD2):c.1534C>T (p.Pro512Ser) GRCh37: Chr1:110171391 GRCh38: Chr1:109628769	AMPD2, LOC126805822	P512S, P566S, P491S, P485S, P448S	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 215782824.	NM_001368809.2(AMPD2):c.353+3G>A GRCh37: Chr1:110168417 GRCh38: Chr1:109625795	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 215698925.	NM_001368809.2(AMPD2):c.222+20G>T GRCh37: Chr1:110168075 GRCh38: Chr1:109625453	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 215590926.	NM_001368809.2(AMPD2):c.2234G>A (p.Arg745His) GRCh37: Chr1:110173381 GRCh38: Chr1:109630759	AMPD2	R724H, R681H, R718H, R799H, R745H	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 215509727.	NM_001368809.2(AMPD2):c.741G>A (p.Ala247=) GRCh37: Chr1:110169819 GRCh38: Chr1:109627197	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 215294728.	NM_001368809.2(AMPD2):c.376C>T (p.Arg126Trp) GRCh37: Chr1:110168804 GRCh38: Chr1:109626182	AMPD2	R105W, R126W, R99W, R180W, R62W	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 214890629.	NM_001368809.2(AMPD2):c.-45C>T GRCh37: Chr1:110163753 GRCh38: Chr1:109621131	AMPD2	R40W	Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 214736830.	NM_001368809.2(AMPD2):c.705C>T (p.Thr235=) GRCh37: Chr1:110169521 GRCh38: Chr1:109626899	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 214704031.	NM_001368809.2(AMPD2):c.2268+18T>C GRCh37: Chr1:110173433 GRCh38: Chr1:109630811	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 214603432.	NM_001368809.2(AMPD2):c.2173G>A (p.Glu725Lys) GRCh37: Chr1:110173320 GRCh38: Chr1:109630698	AMPD2	E661K, E704K, E725K, E779K, E698K	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 214059833.	NM_001368809.2(AMPD2):c.808C>T (p.Arg270Cys) GRCh37: Chr1:110169886 GRCh38: Chr1:109627264	AMPD2	R206C, R243C, R324C, R249C, R270C	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, not provided	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214035134.	NM_001368809.2(AMPD2):c.1276-13C>T GRCh37: Chr1:110170973 GRCh38: Chr1:109628351	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 213710435.	NM_001368809.2(AMPD2):c.1179C>T (p.His393=) GRCh37: Chr1:110170803 GRCh38: Chr1:109628181	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 213568936.	NM_001368809.2(AMPD2):c.-119G>C GRCh37: Chr1:110163679 GRCh38: Chr1:109621057	AMPD2	C15S	Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213137037.	NM_001368809.2(AMPD2):c.330G>A (p.Glu110=) GRCh37: Chr1:110168391 GRCh38: Chr1:109625769	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Nov 23, 2021)	criteria provided, single submitter
Select item 212866638.	NM_001368809.2(AMPD2):c.41A>T (p.Lys14Ile) GRCh37: Chr1:110163838 GRCh38: Chr1:109621216	AMPD2, LOC129931109	N37Y, K68I, K14I	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 211557939.	NM_001368809.2(AMPD2):c.487C>T (p.Arg163Trp) GRCh37: Chr1:110169005 GRCh38: Chr1:109626383	AMPD2	R142W, R136W, R163W, R217W, R99W	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 211247040.	NM_001368809.2(AMPD2):c.1699-5A>G GRCh37: Chr1:110171944 GRCh38: Chr1:109629322	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 210511741.	NM_001368809.2(AMPD2):c.1505G>A (p.Arg502His) GRCh37: Chr1:110171362 GRCh38: Chr1:109628740	LOC126805822, AMPD2	R438H, R475H, R556H, R481H, R502H	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 209045942.	NM_001368809.2(AMPD2):c.66C>T (p.Ser22=) GRCh37: Chr1:110163863 GRCh38: Chr1:109621241	AMPD2, LOC129931109	A45V	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 208911943.	NM_001368809.2(AMPD2):c.2017C>G (p.Gln673Glu) GRCh37: Chr1:110172888 GRCh38: Chr1:109630266	AMPD2	Q609E, Q646E, Q652E, Q727E, Q673E	Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 208443744.	NM_001368809.2(AMPD2):c.950+12G>C GRCh37: Chr1:110170152 GRCh38: Chr1:109627530	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 208035845.	NM_001368809.2(AMPD2):c.755C>T (p.Pro252Leu) GRCh37: Chr1:110169833 GRCh38: Chr1:109627211	AMPD2	P188L, P225L, P231L, P306L, P252L	Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63, Inborn genetic diseases	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 208016846.	NM_001368809.2(AMPD2):c.2151C>T (p.Phe717=) GRCh37: Chr1:110173022 GRCh38: Chr1:109630400	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 207739247.	NM_001368809.2(AMPD2):c.574C>A (p.Arg192=) GRCh37: Chr1:110169390 GRCh38: Chr1:109626768	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 207250548.	NM_001368809.2(AMPD2):c.1329T>C (p.Ile443=) GRCh37: Chr1:110171039 GRCh38: Chr1:109628417	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 206979949.	NM_001368809.2(AMPD2):c.640C>T (p.Arg214Cys) GRCh37: Chr1:110169456 GRCh38: Chr1:109626834	AMPD2	R150C, R268C, R187C, R193C, R214C	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 206860450.	NM_001368809.2(AMPD2):c.1175T>C (p.Val392Ala) GRCh37: Chr1:110170799 GRCh38: Chr1:109628177	AMPD2, LOC126805822	V371A, V392A, V328A, V365A, V446A	Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 206545251.	NM_001368809.2(AMPD2):c.2356G>A (p.Val786Met) GRCh37: Chr1:110173652 GRCh38: Chr1:109631030	AMPD2	V765M, V840M, V786M, V722M, V759M	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 206394852.	NM_001368809.2(AMPD2):c.1246C>T (p.Leu416=) GRCh37: Chr1:110170870 GRCh38: Chr1:109628248	AMPD2, LOC126805822		Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 206345853.	NM_001368809.2(AMPD2):c.1173C>T (p.Ile391=) GRCh37: Chr1:110170797 GRCh38: Chr1:109628175	LOC126805822, AMPD2		Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 206212454.	NM_001368809.2(AMPD2):c.423-6C>G GRCh37: Chr1:110168935 GRCh38: Chr1:109626313	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 205525255.	NM_001368809.2(AMPD2):c.185G>A (p.Arg62His) GRCh37: Chr1:110168018 GRCh38: Chr1:109625396	AMPD2	R116H, R35H, R62H	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 205524756.	NM_001368809.2(AMPD2):c.1035C>T (p.Ala345=) GRCh37: Chr1:110170480 GRCh38: Chr1:109627858	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 205354657.	NM_001368809.2(AMPD2):c.700G>A (p.Asp234Asn) GRCh37: Chr1:110169516 GRCh38: Chr1:109626894	AMPD2	D234N, D170N, D207N, D213N, D288N	Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 205338258.	NM_001368809.2(AMPD2):c.1080+16G>A GRCh37: Chr1:110170541 GRCh38: Chr1:109627919	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 204865759.	NM_001368809.2(AMPD2):c.2157+14_2157+15delinsCC GRCh37: Chr1:110173042-110173043 GRCh38: Chr1:109630420-109630421	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 204783060.	NM_001368809.2(AMPD2):c.1365G>A (p.Thr455=) GRCh37: Chr1:110171075 GRCh38: Chr1:109628453	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 204780261.	NM_001368809.2(AMPD2):c.1861A>G (p.Arg621Gly) GRCh37: Chr1:110172111 GRCh38: Chr1:109629489	AMPD2	R557G, R594G, R621G, R675G, R600G	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 204324662.	NM_001368809.2(AMPD2):c.2013G>A (p.Leu671=) GRCh37: Chr1:110172884 GRCh38: Chr1:109630262	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 204322463.	NM_001368809.2(AMPD2):c.-95T>C GRCh37: Chr1:110163703 GRCh38: Chr1:109621081	AMPD2	L23P	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 204278864.	NM_001368809.2(AMPD2):c.144G>A (p.Pro48=) GRCh37: Chr1:110167977 GRCh38: Chr1:109625355	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 204122665.	NM_001368809.2(AMPD2):c.1863-3dup GRCh37: Chr1:110172410-110172411 GRCh38: Chr1:109629788-109629789	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Benign (Apr 13, 2022)	criteria provided, single submitter
Select item 204090766.	NM_001368809.2(AMPD2):c.1338C>T (p.Ser446=) GRCh37: Chr1:110171048 GRCh38: Chr1:109628426	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 203173167.	NM_001368809.2(AMPD2):c.1408-3_1418del GRCh37: Chr1:110171257-110171270 GRCh38: Chr1:109628635-109628648	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely pathogenic (Oct 18, 2022)	criteria provided, single submitter
Select item 202475968.	NM_001368809.2(AMPD2):c.222+15C>T GRCh37: Chr1:110168070 GRCh38: Chr1:109625448	AMPD2		Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 201613169.	NM_001368809.2(AMPD2):c.2157+16G>T GRCh37: Chr1:110173044 GRCh38: Chr1:109630422	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 201066070.	NM_001368809.2(AMPD2):c.190T>G (p.Ser64Ala) GRCh37: Chr1:110168023 GRCh38: Chr1:109625401	AMPD2	S64A, S118A, S37A	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 200683271.	NM_001368809.2(AMPD2):c.1825A>T (p.Thr609Ser) GRCh37: Chr1:110172075 GRCh38: Chr1:109629453	AMPD2	T545S, T582S, T663S, T588S, T609S	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 200486272.	NM_001368809.2(AMPD2):c.319C>T (p.Gln107Ter) GRCh37: Chr1:110168380 GRCh38: Chr1:109625758	AMPD2	Q107, Q43, Q86, Q161, Q80*	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Pathogenic (Jun 11, 2022)	criteria provided, single submitter
Select item 200322473.	NM_001368809.2(AMPD2):c.50T>C (p.Phe17Ser) GRCh37: Chr1:110163847 GRCh38: Chr1:109621225	AMPD2, LOC129931109	F17S, F71S	Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 199252874.	NM_001368809.2(AMPD2):c.823G>A (p.Val275Met) GRCh37: Chr1:110169901 GRCh38: Chr1:109627279	AMPD2	V211M, V329M, V248M, V254M, V275M	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 199157775.	NM_001368809.2(AMPD2):c.-43_-24dup GRCh37: Chr1:110163751-110163752 GRCh38: Chr1:109621129-109621130	AMPD2	L16fs	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Pathogenic (Mar 19, 2022)	criteria provided, single submitter
Select item 199006676.	NM_001368809.2(AMPD2):c.316C>T (p.Arg106Trp) GRCh37: Chr1:110168377 GRCh38: Chr1:109625755	AMPD2	R106W, R160W, R42W, R79W, R85W	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 198613777.	NM_001368809.2(AMPD2):c.1146G>A (p.Arg382=) GRCh37: Chr1:110170770 GRCh38: Chr1:109628148	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 198249978.	NM_001368809.2(AMPD2):c.1637C>T (p.Pro546Leu) GRCh37: Chr1:110171796 GRCh38: Chr1:109629174	AMPD2, LOC126805822	P482L, P525L, P600L, P519L, P546L	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 198195879.	NM_001368809.2(AMPD2):c.1005T>C (p.His335=) GRCh37: Chr1:110170450 GRCh38: Chr1:109627828	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Benign (Aug 16, 2022)	criteria provided, single submitter
Select item 197803980.	NM_001368809.2(AMPD2):c.439G>C (p.Gly147Arg) GRCh37: Chr1:110168957 GRCh38: Chr1:109626335	AMPD2	G120R, G201R, G126R, G147R, G83R	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 195072681.	NM_001368809.2(AMPD2):c.951-7T>C GRCh37: Chr1:110170389 GRCh38: Chr1:109627767	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 194995682.	NM_001368809.2(AMPD2):c.532-19C>T GRCh37: Chr1:110169329 GRCh38: Chr1:109626707	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 194830983.	NM_001368809.2(AMPD2):c.150C>T (p.Pro50=) GRCh37: Chr1:110167983 GRCh38: Chr1:109625361	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 194109584.	NM_001368809.2(AMPD2):c.81T>C (p.Thr27=) GRCh37: Chr1:110163878 GRCh38: Chr1:109621256	AMPD2, LOC129931109	L50P	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 193971985.	NM_001368809.2(AMPD2):c.913G>A (p.Val305Ile) GRCh37: Chr1:110170103 GRCh38: Chr1:109627481	AMPD2	V278I, V284I, V359I, V305I, V241I	Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 193913386.	NM_001368809.2(AMPD2):c.1699-9C>A GRCh37: Chr1:110171940 GRCh38: Chr1:109629318	AMPD2, LOC126805822		Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 193875887.	NM_001368809.2(AMPD2):c.1525G>A (p.Val509Met) GRCh37: Chr1:110171382 GRCh38: Chr1:109628760	AMPD2, LOC126805822	V488M, V482M, V445M, V509M, V563M	Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63, Inborn genetic diseases, Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 193335788.	NM_001368809.2(AMPD2):c.180C>T (p.Asp60=) GRCh37: Chr1:110168013 GRCh38: Chr1:109625391	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 192994089.	NM_001368809.2(AMPD2):c.1080+3G>A GRCh37: Chr1:110170528 GRCh38: Chr1:109627906	AMPD2, LOC126805822		Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Uncertain significance (Apr 3, 2022)	criteria provided, single submitter
Select item 192150390.	NM_001368809.2(AMPD2):c.282C>T (p.Pro94=) GRCh37: Chr1:110168343 GRCh38: Chr1:109625721	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 191677291.	NM_001368809.2(AMPD2):c.2268+11G>C GRCh37: Chr1:110173426 GRCh38: Chr1:109630804	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 191591192.	NM_001368809.2(AMPD2):c.-133C>T GRCh37: Chr1:110163665 GRCh38: Chr1:109621043	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 191404993.	NM_001368809.2(AMPD2):c.861-3C>T GRCh37: Chr1:110170048 GRCh38: Chr1:109627426	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 191090794.	NM_001368809.2(AMPD2):c.1276-18C>G GRCh37: Chr1:110170968 GRCh38: Chr1:109628346	AMPD2, LOC126805822		Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 190419295.	NM_001368809.2(AMPD2):c.1158G>A (p.Arg386=) GRCh37: Chr1:110170782 GRCh38: Chr1:109628160	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 170530096.	NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter) GRCh37: Chr1:110170502 GRCh38: Chr1:109627880	AMPD2, LOC126805822	R289, R326, R332, R353, R407*	Pontocerebellar hypoplasia type 9	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 167983597.	NM_001368809.2(AMPD2):c.1546T>C (p.Trp516Arg) GRCh37: Chr1:110171403 GRCh38: Chr1:109628781	AMPD2, LOC126805822	W452R, W489R, W495R, W516R	Pontocerebellar hypoplasia type 9	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 167489598.	NM_001368809.2(AMPD2):c.276G>A (p.Glu92=) GRCh37: Chr1:110168337 GRCh38: Chr1:109625715	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 167398999.	NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=) GRCh37: Chr1:110173771 GRCh38: Chr1:109631149	AMPD2		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, not provided, Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1667443100.	NM_001368809.2(AMPD2):c.1276-4C>T GRCh37: Chr1:110170982 GRCh38: Chr1:109628360	AMPD2, LOC126805822		Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9	Likely benign (Oct 14, 2022)	criteria provided, single submitter

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