ClinVar for MedGen (Select 338281) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25848021.	NM_022089.4(ATP13A2):c.1306+1G>C GRCh37: Chr1:17322880 GRCh38: Chr1:16996385	ATP13A2		Kufor-Rakeb syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25724132.	NM_022089.4(ATP13A2):c.2540_2550del (p.Gln847fs) GRCh37: Chr1:17316245-17316255 GRCh38: Chr1:16989750-16989760	ATP13A2	Q803fs, Q842fs, Q847fs	Kufor-Rakeb syndrome	Pathogenic	criteria provided, single submitter
Select item 25053603.	NM_022089.4(ATP13A2):c.514C>T (p.Arg172Cys) GRCh37: Chr1:17330870 GRCh38: Chr1:17004375	ATP13A2	R167C, R172C	Kufor-Rakeb syndrome	Uncertain significance (May 26, 2023)	criteria provided, single submitter
Select item 25053594.	NM_022089.4(ATP13A2):c.1407_1428dup (p.Met477fs) GRCh37: Chr1:17322584-17322585 GRCh38: Chr1:16996089-16996090	ATP13A2	M472fs, M477fs	Kufor-Rakeb syndrome	Likely pathogenic (May 26, 2023)	criteria provided, single submitter
Select item 24420915.	NM_022089.4(ATP13A2):c.2896A>G (p.Ile966Val) GRCh37: Chr1:17313728 GRCh38: Chr1:16987233	ATP13A2	I922V, I961V, I966V	Kufor-Rakeb syndrome	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 24267136.	NC_000001.10:g.(?_17312716)_(17338233_?)dup GRCh37: Chr1:17312716-17338233	ATP13A2		Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 24267127.	NC_000001.10:g.(?_17316166)_(17338233_?)dup GRCh37: Chr1:17316166-17338233	ATP13A2		Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 24257888.	NM_022089.4(ATP13A2):c.635+10G>C GRCh37: Chr1:17328781 GRCh38: Chr1:17002286	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 24204619.	NM_022089.4(ATP13A2):c.2005+13G>A GRCh37: Chr1:17318725 GRCh38: Chr1:16992230	ATP13A2		Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 241973710.	NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter) GRCh37: Chr1:17331944 GRCh38: Chr1:17005449	ATP13A2	W71*	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 241890811.	NM_022089.4(ATP13A2):c.919G>A (p.Val307Met) GRCh37: Chr1:17326626 GRCh38: Chr1:17000131	ATP13A2	V302M, V307M	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 241890512.	NM_022089.4(ATP13A2):c.1819C>G (p.Leu607Val) GRCh37: Chr1:17319007 GRCh38: Chr1:16992512	ATP13A2	L602V, L607V	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 241849713.	NM_022089.4(ATP13A2):c.2958C>G (p.Val986=) GRCh37: Chr1:17313666 GRCh38: Chr1:16987171	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 241794614.	NM_022089.4(ATP13A2):c.835A>G (p.Arg279Gly) GRCh37: Chr1:17326900 GRCh38: Chr1:17000405	ATP13A2	R274G, R279G	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 241719015.	NM_022089.4(ATP13A2):c.598T>C (p.Ser200Pro) GRCh37: Chr1:17328828 GRCh38: Chr1:17002333	ATP13A2	S195P, S200P	Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 241499516.	NM_022089.4(ATP13A2):c.1845+15del GRCh37: Chr1:17318966 GRCh38: Chr1:16992471	ATP13A2		Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Benign (Jul 19, 2022)	criteria provided, single submitter
Select item 220270717.	NM_022089.4(ATP13A2):c.2675G>A (p.Gly892Asp) GRCh37: Chr1:17314904 GRCh38: Chr1:16988409	ATP13A2	G848D, G892D, G887D	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 220264018.	NM_022089.4(ATP13A2):c.894C>T (p.Cys298=) GRCh37: Chr1:17326754 GRCh38: Chr1:17000259	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 220112719.	NM_022089.4(ATP13A2):c.3457C>A (p.Arg1153=) GRCh37: Chr1:17312802 GRCh38: Chr1:16986307	ATP13A2	A1052E	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 219976020.	NM_022089.4(ATP13A2):c.2134G>C (p.Val712Leu) GRCh37: Chr1:17318346 GRCh38: Chr1:16991851	ATP13A2	V707L, V712L	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 219644521.	NM_022089.4(ATP13A2):c.1750-20C>A GRCh37: Chr1:17319096 GRCh38: Chr1:16992601	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 219593222.	NM_022089.4(ATP13A2):c.703G>A (p.Glu235Lys) GRCh37: Chr1:17328531 GRCh38: Chr1:17002036	ATP13A2	E235K, E230K	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 219415923.	NM_022089.4(ATP13A2):c.256G>A (p.Glu86Lys) GRCh37: Chr1:17331901 GRCh38: Chr1:17005406	ATP13A2	E86K	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 219375924.	NM_022089.4(ATP13A2):c.841-15G>T GRCh37: Chr1:17326822 GRCh38: Chr1:17000327	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 219203725.	NM_022089.4(ATP13A2):c.2202A>G (p.Pro734=) GRCh37: Chr1:17318278 GRCh38: Chr1:16991783	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 218841526.	NM_022089.4(ATP13A2):c.966G>A (p.Gln322=) GRCh37: Chr1:17326579 GRCh38: Chr1:17000084	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 218598027.	NM_022089.4(ATP13A2):c.218T>C (p.Val73Ala) GRCh37: Chr1:17331939 GRCh38: Chr1:17005444	ATP13A2	V73A	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 218302628.	NM_022089.4(ATP13A2):c.3399G>A (p.Met1133Ile) GRCh37: Chr1:17312964 GRCh38: Chr1:16986469	ATP13A2	M1133I, M1128I	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 218026229.	NM_022089.4(ATP13A2):c.1422TGC[3] (p.Ala476_Met477insAla) GRCh37: Chr1:17322585-17322586 GRCh38: Chr1:16996090-16996091	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 217975730.	NM_022089.4(ATP13A2):c.1378del (p.Arg460fs) GRCh37: Chr1:17322635 GRCh38: Chr1:16996140	ATP13A2	R455fs, R460fs	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 217766731.	NM_022089.4(ATP13A2):c.1893T>G (p.Ser631=) GRCh37: Chr1:17318850 GRCh38: Chr1:16992355	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 217594532.	NM_022089.4(ATP13A2):c.1543-11G>A GRCh37: Chr1:17320341 GRCh38: Chr1:16993846	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 217079733.	NM_022089.4(ATP13A2):c.3084-7C>A GRCh37: Chr1:17313458 GRCh38: Chr1:16986963	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 216964934.	NM_022089.4(ATP13A2):c.3080C>A (p.Pro1027Gln) GRCh37: Chr1:17313544 GRCh38: Chr1:16987049	ATP13A2	P1022Q, P983Q, P1027Q	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 216800535.	NM_022089.4(ATP13A2):c.2123C>T (p.Thr708Met) GRCh37: Chr1:17318507 GRCh38: Chr1:16992012	ATP13A2	T703M, T708M	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Inborn genetic diseases	Uncertain significance (Mar 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 216431936.	NM_022089.4(ATP13A2):c.3273C>G (p.Val1091=) GRCh37: Chr1:17313090 GRCh38: Chr1:16986595	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 216393337.	NM_022089.4(ATP13A2):c.1466G>A (p.Arg489Gln) GRCh37: Chr1:17322547 GRCh38: Chr1:16996052	ATP13A2	R484Q, R489Q	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 216301238.	NM_022089.4(ATP13A2):c.1110G>T (p.Arg370=) GRCh37: Chr1:17323600 GRCh38: Chr1:16997105	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 216298939.	NM_022089.4(ATP13A2):c.271G>A (p.Glu91Lys) GRCh37: Chr1:17331886 GRCh38: Chr1:17005391	ATP13A2	E91K	not provided, Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 216106840.	NM_022089.4(ATP13A2):c.908-8G>A GRCh37: Chr1:17326645 GRCh38: Chr1:17000150	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216087441.	NM_022089.4(ATP13A2):c.2871C>T (p.Asn957=) GRCh37: Chr1:17313753 GRCh38: Chr1:16987258	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 216005742.	NM_022089.4(ATP13A2):c.2766G>T (p.Glu922Asp) GRCh37: Chr1:17314726 GRCh38: Chr1:16988231	ATP13A2	E878D, E922D, E917D	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 215846843.	NM_022089.4(ATP13A2):c.1075G>A (p.Glu359Lys) GRCh37: Chr1:17323635 GRCh38: Chr1:16997140	ATP13A2	E359K, E354K	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 215830744.	NM_022089.4(ATP13A2):c.3439C>A (p.Arg1147Ser) GRCh37: Chr1:17312820 GRCh38: Chr1:16986325	ATP13A2	R1142S, R1147S, A1046E	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 215527645.	NM_022089.4(ATP13A2):c.3235+19G>A GRCh37: Chr1:17313281 GRCh38: Chr1:16986786	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 215351046.	NM_022089.4(ATP13A2):c.3270C>T (p.Ser1090=) GRCh37: Chr1:17313093 GRCh38: Chr1:16986598	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 215317647.	NM_022089.4(ATP13A2):c.1195+19G>A GRCh37: Chr1:17323496 GRCh38: Chr1:16997001	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 215269548.	NM_022089.4(ATP13A2):c.1188C>T (p.Thr396=) GRCh37: Chr1:17323522 GRCh38: Chr1:16997027	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 215261549.	NM_022089.4(ATP13A2):c.2954T>C (p.Leu985Pro) GRCh37: Chr1:17313670 GRCh38: Chr1:16987175	ATP13A2	L941P, L985P, L980P	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 215186550.	NM_022089.4(ATP13A2):c.217dup (p.Val73fs) GRCh37: Chr1:17331939-17331940 GRCh38: Chr1:17005444-17005445	ATP13A2	V73fs	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 215177551.	NM_022089.4(ATP13A2):c.1749+12A>G GRCh37: Chr1:17320112 GRCh38: Chr1:16993617	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 215097352.	NM_022089.4(ATP13A2):c.1564G>A (p.Gly522Ser) GRCh37: Chr1:17320309 GRCh38: Chr1:16993814	ATP13A2	G517S, G522S	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Inborn genetic diseases	Uncertain significance (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215014453.	NM_022089.4(ATP13A2):c.2835C>A (p.Phe945Leu) GRCh37: Chr1:17314657 GRCh38: Chr1:16988162	ATP13A2	F945L, F940L, F901L	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 214906654.	NM_022089.4(ATP13A2):c.482G>A (p.Arg161Gln) GRCh37: Chr1:17330902 GRCh38: Chr1:17004407	ATP13A2	R156Q, R161Q	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 214899655.	NM_022089.4(ATP13A2):c.348-17C>T GRCh37: Chr1:17331333 GRCh38: Chr1:17004838	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 214886256.	NM_022089.4(ATP13A2):c.1621C>T (p.Pro541Ser) GRCh37: Chr1:17320252 GRCh38: Chr1:16993757	ATP13A2	P536S, P541S	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 214835957.	NM_022089.4(ATP13A2):c.2126+13C>T GRCh37: Chr1:17318491 GRCh38: Chr1:16991996	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 214816458.	NM_022089.4(ATP13A2):c.1243C>A (p.Arg415=) GRCh37: Chr1:17322944 GRCh38: Chr1:16996449	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 214810059.	NM_022089.4(ATP13A2):c.3406-13del GRCh37: Chr1:17312866 GRCh38: Chr1:16986371	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 214787560.	NM_022089.4(ATP13A2):c.2005+11A>G GRCh37: Chr1:17318727 GRCh38: Chr1:16992232	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 214749461.	NM_022089.4(ATP13A2):c.196C>G (p.Arg66Gly) GRCh37: Chr1:17331961 GRCh38: Chr1:17005466	ATP13A2	R66G	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 214318262.	NM_022089.4(ATP13A2):c.2459C>G (p.Ser820Cys) GRCh37: Chr1:17316452 GRCh38: Chr1:16989957	ATP13A2	S815C, S820C	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 214247363.	NM_022089.4(ATP13A2):c.1518G>A (p.Lys506=) GRCh37: Chr1:17322495 GRCh38: Chr1:16996000	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 214134764.	NM_022089.4(ATP13A2):c.3135C>T (p.Tyr1045=) GRCh37: Chr1:17313400 GRCh38: Chr1:16986905	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 214121565.	NM_022089.4(ATP13A2):c.1307-11T>C GRCh37: Chr1:17322806 GRCh38: Chr1:16996311	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 214059666.	NM_022089.4(ATP13A2):c.2867C>G (p.Thr956Ser) GRCh37: Chr1:17313757 GRCh38: Chr1:16987262	ATP13A2	T912S, T956S, T951S	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 213695667.	NM_022089.4(ATP13A2):c.840+5G>A GRCh37: Chr1:17326890 GRCh38: Chr1:17000395	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 213493668.	NM_022089.4(ATP13A2):c.1749+5G>C GRCh37: Chr1:17320119 GRCh38: Chr1:16993624	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 213424669.	NM_022089.4(ATP13A2):c.1570G>A (p.Asp524Asn) GRCh37: Chr1:17320303 GRCh38: Chr1:16993808	ATP13A2	D519N, D524N	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 213272870.	NM_022089.4(ATP13A2):c.3426C>A (p.Leu1142=) GRCh37: Chr1:17312833 GRCh38: Chr1:16986338	ATP13A2	P1042T	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 213066371.	NM_022089.4(ATP13A2):c.1039+15C>G GRCh37: Chr1:17326491 GRCh38: Chr1:16999996	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 212576872.	NM_022089.4(ATP13A2):c.2126+11C>A GRCh37: Chr1:17318493 GRCh38: Chr1:16991998	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 212507673.	NM_022089.4(ATP13A2):c.374C>A (p.Ala125Glu) GRCh37: Chr1:17331290 GRCh38: Chr1:17004795	ATP13A2	A125E	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 212318274.	NM_022089.4(ATP13A2):c.841-20C>T GRCh37: Chr1:17326827 GRCh38: Chr1:17000332	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 212243175.	NM_022089.4(ATP13A2):c.1354-17A>C GRCh37: Chr1:17322676 GRCh38: Chr1:16996181	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 211502576.	NM_022089.4(ATP13A2):c.2451C>G (p.Asp817Glu) GRCh37: Chr1:17316460 GRCh38: Chr1:16989965	ATP13A2	D812E, D817E	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78, Inborn genetic diseases	Uncertain significance (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211400777.	NM_022089.4(ATP13A2):c.258A>C (p.Glu86Asp) GRCh37: Chr1:17331899 GRCh38: Chr1:17005404	ATP13A2	E86D	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 210868978.	NM_022089.4(ATP13A2):c.2763-4_2763-1del GRCh37: Chr1:17314730-17314733 GRCh38: Chr1:16988235-16988238	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely pathogenic (Mar 11, 2022)	criteria provided, single submitter
Select item 210809079.	NM_022089.4(ATP13A2):c.2593G>C (p.Glu865Gln) GRCh37: Chr1:17316202 GRCh38: Chr1:16989707	ATP13A2	E865Q, E860Q, E821Q	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 210718080.	NM_022089.4(ATP13A2):c.1272C>A (p.His424Gln) GRCh37: Chr1:17322915 GRCh38: Chr1:16996420	ATP13A2	H419Q, H424Q	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 210546781.	NM_022089.4(ATP13A2):c.2006-1G>C GRCh37: Chr1:17318625 GRCh38: Chr1:16992130	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 210501882.	NM_022089.4(ATP13A2):c.716C>T (p.Pro239Leu) GRCh37: Chr1:17327019 GRCh38: Chr1:17000524	ATP13A2	P234L, P239L	Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 210497083.	NM_022089.4(ATP13A2):c.934C>T (p.Leu312=) GRCh37: Chr1:17326611 GRCh38: Chr1:17000116	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 209999984.	NM_022089.4(ATP13A2):c.747G>A (p.Ala249=) GRCh37: Chr1:17326988 GRCh38: Chr1:17000493	ATP13A2		Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 209662885.	NM_022089.4(ATP13A2):c.2898C>T (p.Ile966=) GRCh37: Chr1:17313726 GRCh38: Chr1:16987231	ATP13A2		Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 209642386.	NM_022089.4(ATP13A2):c.3406-8del GRCh37: Chr1:17312861 GRCh38: Chr1:16986366	ATP13A2		Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 209564187.	NM_022089.4(ATP13A2):c.1353+16G>C GRCh37: Chr1:17322733 GRCh38: Chr1:16996238	ATP13A2		Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 208326288.	NM_022089.4(ATP13A2):c.2251+5A>G GRCh37: Chr1:17318224 GRCh38: Chr1:16991729	ATP13A2		Inborn genetic diseases, Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 208302789.	NM_022089.4(ATP13A2):c.908-13T>G GRCh37: Chr1:17326650 GRCh38: Chr1:17000155	ATP13A2		Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 208296690.	NM_022089.4(ATP13A2):c.2529+10C>T GRCh37: Chr1:17316372 GRCh38: Chr1:16989877	ATP13A2		Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 208189991.	NM_022089.4(ATP13A2):c.1120C>A (p.Leu374Ile) GRCh37: Chr1:17323590 GRCh38: Chr1:16997095	ATP13A2	L369I, L374I	Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 208184292.	NM_022089.4(ATP13A2):c.710T>C (p.Leu237Pro) GRCh37: Chr1:17327025 GRCh38: Chr1:17000530	ATP13A2	L232P, L237P	Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 207925293.	NM_022089.4(ATP13A2):c.1749+15C>G GRCh37: Chr1:17320109 GRCh38: Chr1:16993614	ATP13A2		Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 207917094.	NM_022089.4(ATP13A2):c.2045C>T (p.Ala682Val) GRCh37: Chr1:17318585 GRCh38: Chr1:16992090	ATP13A2	A677V, A682V	Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 207915095.	NM_022089.4(ATP13A2):c.1720G>A (p.Asp574Asn) GRCh37: Chr1:17320153 GRCh38: Chr1:16993658	ATP13A2	D574N, D569N	Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 207863596.	NM_022089.4(ATP13A2):c.165G>C (p.Trp55Cys) GRCh37: Chr1:17331992 GRCh38: Chr1:17005497	ATP13A2	W55C	Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 207837597.	NM_022089.4(ATP13A2):c.3239C>A (p.Pro1080His) GRCh37: Chr1:17313124 GRCh38: Chr1:16986629	ATP13A2	P1075H, P1080H	Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 207754298.	NM_022089.4(ATP13A2):c.106-13G>A GRCh37: Chr1:17332064 GRCh38: Chr1:17005569	ATP13A2		Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 207692499.	NM_022089.4(ATP13A2):c.1322T>C (p.Ile441Thr) GRCh37: Chr1:17322780 GRCh38: Chr1:16996285	ATP13A2	I441T, I436T	Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 2075463100.	NM_022089.4(ATP13A2):c.1227C>G (p.Ser409Arg) GRCh37: Chr1:17322960 GRCh38: Chr1:16996465	ATP13A2	S404R, S409R	Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter

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