Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)	SNV Germline	Chr8:1771124	Pathogenic	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8	Criteria Provided Multiple Submitters No Conflicts	CA340024	rs_104894064	6 SubmittersRCV000002936 RCV000409951 RCV000820654 RCV005041973
NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)	SNV Germline	Chr8:1780495	Pathogenic	Neuronal ceroid lipofuscinosis 8 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA252416	rs_28940569	3 SubmittersRCV000002937 RCV001090293 RCV001851598
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)	SNV Germline	Chr8:1780316	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Condition: not provided CLN8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252418	rs_104894060	9 SubmittersRCV000002938 RCV000763180 RCV000805014 RCV002225256 RCV002291264
NM_018941.4(CLN8):c.88G>C (p.Ala30Pro)	SNV Germline	Chr8:1771142	Pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA252420	rs_137852883	1 SubmittersRCV000002940
NM_018941.4(CLN8):c.209G>A (p.Arg70His)	SNV Germline	Chr8:1771263	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA264159	rs_386834124	9 SubmittersRCV000050117 RCV000464589 RCV000623329 RCV005625253
NM_018941.4(CLN8):c.227A>G (p.Gln76Arg)	SNV Unknown	Chr8:1771281	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA264161	rs_386834125	1 SubmittersRCV000050118
NM_018941.4(CLN8):c.320T>G (p.Ile107Ser)	SNV Unknown	Chr8:1771374	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA264163	rs_386834126	1 SubmittersRCV000050119
NM_018941.4(CLN8):c.464C>T (p.Ala155Val)	SNV Unknown	Chr8:1771518	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA264167	rs_386834128	1 SubmittersRCV000050121
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)	SNV Germline	Chr8:1771527	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA264172	rs_386834130	10 SubmittersRCV000050123 RCV001377678 RCV002483067 RCV002514269
NM_018941.4(CLN8):c.507C>T (p.Ser169=)	SNV Unknown	Chr8:1771561	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA264174	rs_386834131	2 SubmittersRCV000050124
NM_018941.4(CLN8):c.509C>T (p.Thr170Met)	SNV Germline	Chr8:1771563	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 8 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA264177	rs_188259026	4 SubmittersRCV000050125 RCV001753470 RCV003387747
NM_018941.4(CLN8):c.581A>G (p.Gln194Arg)	SNV Unknown	Chr8:1780287	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA264180	rs_386834133	1 SubmittersRCV000050127
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu)	SNV Germline	Chr8:1780317	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis not specified	Criteria Provided Conflicting Classifications	CA264182	rs_386834134	3 SubmittersRCV000050128 RCV000632701 RCV002222375
NM_018941.4(CLN8):c.766C>G (p.Gln256Glu)	SNV Unknown	Chr8:1780472	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA264191	rs_386834138	1 SubmittersRCV000050132
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)	SNV Germline	Chr8:1780498	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant	Criteria Provided Conflicting Classifications	CA267596	rs_587779411	7 SubmittersRCV000087102 RCV000988030 RCV005042202
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)	SNV Germline	Chr8:1780415	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA274121	rs_746645358	7 SubmittersRCV000169279 RCV000187126 RCV003532006
NM_018941.4(CLN8):c.200C>T (p.Ala67Val)	SNV Germline	Chr8:1771254	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8 Inborn genetic diseases Neuronal ceroid lipofuscinosis 1 not specified	Criteria Provided Conflicting Classifications	CA241753	rs_373957283	8 SubmittersRCV000632691 RCV000724133 RCV001273351 RCV001838985 RCV002317017 RCV003224189 RCV004782284
NM_018941.4(CLN8):c.11C>T (p.Ala4Val)	SNV Germline	Chr8:1771065	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8 Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA302819	rs_147181589	7 SubmittersRCV000175911 RCV000465790 RCV001704258 RCV002314613 RCV004799187 RCV005889831
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)	SNV Germline	Chr8:1780512	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8 Condition: not provided Neuronal ceroid lipofuscinosis See cases Inborn genetic diseases CLN8-related disorder	Criteria Provided Conflicting Classifications	CA243465	rs_139003032	14 SubmittersRCV000187131 RCV000515342 RCV000670572 RCV000723601 RCV001084070 RCV002252020 RCV002408767 RCV004537428
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)	SNV Germline	Chr8:1771428	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Intellectual disability Inborn genetic diseases Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8	Criteria Provided Conflicting Classifications	CA314053	rs_142269885	17 SubmittersRCV000187142 RCV000656837 RCV000677331 RCV001080578 RCV001251946 RCV002314707 RCV003224205
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)	SNV Germline	Chr8:1771553	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 Inborn genetic diseases Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8	Criteria Provided Multiple Submitters No Conflicts	CA314014	rs_144495588	9 SubmittersRCV000187127 RCV000503130 RCV000665564 RCV002336495 RCV005042399
NM_018941.4(CLN8):c.522C>T (p.Cys174=)	SNV Germline	Chr8:1771576	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases CLN8-related disorder	Criteria Provided Conflicting Classifications	CA314002	rs_148417620	5 SubmittersRCV000187122 RCV000729236 RCV001079239 RCV002336494 RCV004539736
NM_018941.4(CLN8):c.725C>T (p.Thr242Met)	SNV Germline	Chr8:1780431	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided CLN8-related disorder	Criteria Provided Conflicting Classifications	CA314017	rs_138821993	5 SubmittersRCV000458992 RCV001704979 RCV004537573
NM_018941.4(CLN8):c.776A>G (p.Asn259Ser)	SNV Germline	Chr8:1780482	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314061	rs_201956727	4 SubmittersRCV000187145 RCV000706746 RCV001833114 RCV002513993
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)	SNV Germline	Chr8:1780485	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA314020	rs_146579299	12 SubmittersRCV000187129 RCV000768188 RCV001080174 RCV001272624 RCV002247602 RCV002408830
NM_018941.4(CLN8):c.470A>G (p.His157Arg)	SNV Germline	Chr8:1771524	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 8 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA277008	rs_149308952	7 SubmittersRCV000192707 RCV001580081 RCV002307439
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)	SNV Germline	Chr8:1771262	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8	Criteria Provided Multiple Submitters No Conflicts	CA056214	rs_765097897	4 SubmittersRCV000988028 RCV006640501
NM_018941.4(CLN8):c.788G>A (p.Trp263Ter)	SNV Germline	Chr8:1780494	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA10582576	rs_878855053	1 SubmittersRCV000230938
NM_018941.4(CLN8):c.207G>A (p.Thr69=)	SNV Germline	Chr8:1771261	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4599226	rs_368365607	7 SubmittersRCV000251360 RCV000726178 RCV001082817 RCV001828146 RCV002418085
NM_018941.4(CLN8):c.648C>T (p.Phe216=)	SNV Germline	Chr8:1780354	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4599328	rs_564074916	5 SubmittersRCV000331844 RCV000725017 RCV001085032 RCV002365298
NM_018941.4(CLN8):c.256C>T (p.Leu86=)	SNV Germline	Chr8:1771310	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA4599232	rs_755248868	4 SubmittersRCV000390779 RCV001086060
NM_018941.4(CLN8):c.838C>T (p.Leu280=)	SNV Germline	Chr8:1780544	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA10605059	rs_886043061	2 SubmittersRCV000339809 RCV001479855
NM_018941.4(CLN8):c.837G>A (p.Gln279=)	SNV Germline	Chr8:1780543	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA10605317	rs_774442159	2 SubmittersRCV000351403 RCV006462337
NM_018941.4(CLN8):c.543+1G>T	SNV Germline	Chr8:1771598	Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA4599282	rs_756267448	2 SubmittersRCV000410670 RCV001850955
NM_018941.4(CLN8):c.513C>G (p.Pro171=)	SNV Germline	Chr8:1771567	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases CLN8-related disorder Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA4599279	rs_376910635	6 SubmittersRCV000726643 RCV002339051 RCV004539856 RCV001081197
NM_018941.4(CLN8):c.464C>A (p.Ala155Asp)	SNV Germline	Chr8:1771518	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16618619	rs_386834128	1 SubmittersRCV000485243
NM_018941.4(CLN8):c.796G>A (p.Ala266Thr)	SNV Germline	Chr8:1780502	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4599354	rs_766292710	4 SubmittersRCV000479521 RCV001273356 RCV001851272 RCV003278837
NM_018941.4(CLN8):c.1A>G (p.Met1Val)	SNV Germline	Chr8:1771055	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4599166	rs_143730802	5 SubmittersRCV000677235 RCV001229215 RCV005409678
NM_018941.4(CLN8):c.510G>A (p.Thr170=)	SNV Germline	Chr8:1771564	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4599277	rs_759153401	4 SubmittersRCV000591388 RCV001088085 RCV001829650 RCV002341522
NM_018941.4(CLN8):c.151G>A (p.Ala51Thr)	SNV Germline	Chr8:1771205	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4599214	rs_777453297	3 SubmittersRCV000596520 RCV002531040 RCV005801835
NM_018941.4(CLN8):c.92G>A (p.Gly31Asp)	SNV Germline	Chr8:1771146	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA369952852	rs_1366421988	1 SubmittersRCV000623561
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)	SNV Germline	Chr8:1780469	Pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA4599348	rs_746397087	3 SubmittersRCV000674890 RCV002544675
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter)	SNV Germline	Chr8:1771337	Pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA4599239	rs_759830733	2 SubmittersRCV000670971 RCV001868250
NM_018941.4(CLN8):c.306G>A (p.Trp102Ter)	SNV Unknown	Chr8:1771360	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA369953280	rs_1554449124	1 SubmittersRCV000666024
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)	SNV Germline	Chr8:1771452	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA369953483	rs_554042394	3 SubmittersRCV000674248 RCV001381243
NM_018941.4(CLN8):c.544-2A>G	SNV Unknown	Chr8:1780248	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA369953795	rs_1554451484	1 SubmittersRCV000668307
NM_018941.4(CLN8):c.2T>C (p.Met1Thr)	SNV Unknown	Chr8:1771056	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	No Assertion Criteria Provided	CA369952681	rs_1554448874	1 SubmittersRCV000671294
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter)	SNV Germline	Chr8:1771280	Pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369953125	rs_1554449047	2 SubmittersRCV000672400 RCV002532124
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter)	SNV Germline	Chr8:1771366	Pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA369953297	rs_1554449136	3 SubmittersRCV000672329 RCV001855577
NM_018941.4(CLN8):c.611G>A (p.Arg204His)	SNV Germline	Chr8:1780317	Likely pathogenic	Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA4599319	rs_386834134	3 SubmittersRCV000673946 RCV001045975
NM_018941.4(CLN8):c.295C>T (p.Gln99Ter)	SNV Germline	Chr8:1771349	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8	Criteria Provided Multiple Submitters No Conflicts	CA170445729	rs_750162094	4 SubmittersRCV000810062 RCV005427308 RCV005047096 RCV006642648
NM_018941.4(CLN8):c.473A>C (p.Tyr158Ser)	SNV Unknown	Chr8:1771527	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369953637	rs_386834130	1 SubmittersRCV000988029
NM_018941.4(CLN8):c.311G>A (p.Trp104Ter)	SNV Germline	Chr8:1771365	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369953295	rs_1801297484	1 SubmittersRCV001057047
NM_018941.4(CLN8):c.523G>A (p.Val175Ile)	SNV Germline	Chr8:1771577	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis 8	Criteria Provided Conflicting Classifications	CA4599280	rs_768139689	3 SubmittersRCV001052230 RCV001772259 RCV001832480
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro)	SNV Germline	Chr8:1771263	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8	Criteria Provided Conflicting Classifications	CA369953092	rs_386834124	3 SubmittersRCV001373416 RCV002246347
NM_018941.4(CLN8):c.455A>G (p.Asn152Ser)	SNV Germline	Chr8:1771509	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA4599267	rs_138581191	5 SubmittersRCV001359907 RCV001549577 RCV002341751 RCV005911248
NM_018941.4(CLN8):c.130C>T (p.Gln44Ter)	SNV Germline	Chr8:1771184	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369952934	rs_2130990747	1 SubmittersRCV001381074
NM_018941.4(CLN8):c.29C>G (p.Ser10Ter)	SNV Germline	Chr8:1771083	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8	Criteria Provided Multiple Submitters No Conflicts	CA369952735	rs_1454175058	2 SubmittersRCV001917477 RCV006639056
NM_018941.4(CLN8):c.635G>A (p.Trp212Ter)	SNV Germline	Chr8:1780341	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369954001	rs_2129015230	1 SubmittersRCV001920978
NM_018941.4(CLN8):c.126C>A (p.Cys42Ter)	SNV Germline	Chr8:1771180	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369952923	rs_192196274	1 SubmittersRCV001994795
NM_018941.4(CLN8):c.543+1G>A	SNV Germline	Chr8:1771598	Pathogenic	Neuronal ceroid lipofuscinosis Thyroid cancer, nonmedullary, 1	Criteria Provided Single Submitter	CA369953788	rs_756267448	2 SubmittersRCV001999996 RCV005924363
NM_018941.4(CLN8):c.105C>G (p.Tyr35Ter)	SNV Germline	Chr8:1771159	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369952882	rs_2130990601	1 SubmittersRCV002007433
NM_018941.4(CLN8):c.539T>A (p.Leu180Ter)	SNV Germline	Chr8:1771593	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369953775	rs_1801309834	1 SubmittersRCV001941941
NM_018941.4(CLN8):c.544-1G>T	SNV Unknown	Chr8:1780249	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	Criteria Provided Single Submitter	CA369953799	rs_2486488212	1 SubmittersRCV002488681
NM_018941.4(CLN8):c.835C>T (p.Gln279Ter)	SNV Germline	Chr8:1780541	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8	Criteria Provided Conflicting Classifications	CA369954428	rs_2486491551	2 SubmittersRCV003084064 RCV006641202
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)	SNV Germline	Chr8:1780488	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 Neuronal ceroid lipofuscinosis 8 northern epilepsy variant	Criteria Provided Conflicting Classifications	CA369954313	rs_1310195190	2 SubmittersRCV003087898 RCV003883879
NM_018941.4(CLN8):c.71G>T (p.Arg24Leu)	SNV Germline	Chr8:1771125	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369952817	rs_762079123	1 SubmittersRCV003078046
NM_018941.4(CLN8):c.159C>A (p.Tyr53Ter)	SNV Germline	Chr8:1771213	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA4599218	rs_780551031	1 SubmittersRCV003082535
NM_018941.4(CLN8):c.610C>G (p.Arg204Gly)	SNV Germline	Chr8:1780316	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369953952	rs_104894060	1 SubmittersRCV002594682
NM_018941.4(CLN8):c.766C>T (p.Gln256Ter)	SNV Germline	Chr8:1780472	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369954282	rs_386834138	1 SubmittersRCV002695903
NM_018941.4(CLN8):c.71G>A (p.Arg24His)	SNV Germline	Chr8:1771125	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis not specified	Criteria Provided Conflicting Classifications	CA4599188	rs_762079123	2 SubmittersRCV002938528 RCV003331405
NM_018941.4(CLN8):c.709G>C (p.Gly237Arg)	SNV Germline	Chr8:1780415	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369954161	rs_746645358	1 SubmittersRCV003014527
NM_018941.4(CLN8):c.544-6A>T	SNV Germline	Chr8:1780244	Conflicting classifications of pathogenicity	Inborn genetic diseases Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA579552642	rs_200435861	2 SubmittersRCV002831535 RCV003777829
NM_018941.4(CLN8):c.447C>A (p.Cys149Ter)	SNV Germline	Chr8:1771501	Pathogenic	Neuronal ceroid lipofuscinosis 8	Criteria Provided Single Submitter	CA369953587	rs_758707781	1 SubmittersRCV003388644
NM_018941.4(CLN8):c.607T>C (p.Cys203Arg)	SNV Germline	Chr8:1780313	Likely pathogenic	Neuronal ceroid lipofuscinosis 8	Criteria Provided Single Submitter	CA369953944	rs_2486488805	1 SubmittersRCV003388919
NM_018941.4(CLN8):c.530G>A (p.Trp177Ter)	SNV Germline	Chr8:1771584	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369953753	rs_2486443393	1 SubmittersRCV003533876
NM_018941.4(CLN8):c.1A>T (p.Met1Leu)	SNV Germline	Chr8:1771055	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369952679	rs_143730802	1 SubmittersRCV003531753
NM_018941.4(CLN8):c.627C>G (p.Tyr209Ter)	SNV Germline	Chr8:1780333	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369953982	rs_2486489059	1 SubmittersRCV003531840
NM_018941.4(CLN8):c.377T>A (p.Leu126Ter)	SNV Germline	Chr8:1771431	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA369953436	rs_2486441460	1 SubmittersRCV003648286
NM_018941.4(CLN8):c.757A>G (p.Lys253Glu)	SNV Unknown	Chr8:1780463	Likely pathogenic	Seizure	Criteria Provided Single Submitter	CA369954261	rs_1801681007	1 SubmittersRCV004545972
NM_018941.4(CLN8):c.609C>A (p.Cys203Ter)	SNV Germline	Chr8:1780315	Likely pathogenic	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Neuronal ceroid lipofuscinosis 8	Criteria Provided Single Submitter			1 SubmittersRCV005051599
NM_018941.4(CLN8):c.191G>A (p.Trp64Ter)	SNV Germline	Chr8:1771245	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter			1 SubmittersRCV005118765
NM_018941.4(CLN8):c.551G>A (p.Trp184Ter)	SNV Germline	Chr8:1780257	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter			1 SubmittersRCV005179229
NM_018941.4(CLN8):c.620T>G (p.Leu207Arg)	SNV Germline	Chr8:1780326	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005200666
NM_018941.4(CLN8):c.248G>A (p.Trp83Ter)	SNV Germline	Chr8:1771302	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter			1 SubmittersRCV006503045
NM_018941.4(CLN8):c.298C>T (p.Gln100Ter)	SNV Germline	Chr8:1771352	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter			1 SubmittersRCV006516820
NM_018941.4(CLN8):c.1A>C (p.Met1Leu)	SNV Germline	Chr8:1771055	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter			1 SubmittersRCV006626618

SNV
Germline

Chr8:1771124

Pathogenic

Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA340024

rs_104894064

6 SubmittersRCV000002936 RCV000409951 RCV000820654 RCV005041973

NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)

SNV
Germline

Chr8:1780495

Pathogenic

Neuronal ceroid lipofuscinosis 8
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252416

rs_28940569

3 SubmittersRCV000002937 RCV001090293 RCV001851598

NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)

SNV
Germline

Chr8:1780316

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Condition: not provided
CLN8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252418

rs_104894060

9 SubmittersRCV000002938 RCV000763180 RCV000805014 RCV002225256 RCV002291264

NM_018941.4(CLN8):c.88G>C (p.Ala30Pro)

SNV
Germline

Chr8:1771142

Pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA252420

rs_137852883

1 SubmittersRCV000002940

NM_018941.4(CLN8):c.209G>A (p.Arg70His)

SNV
Germline

Chr8:1771263

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA264159

rs_386834124

9 SubmittersRCV000050117 RCV000464589 RCV000623329 RCV005625253

NM_018941.4(CLN8):c.227A>G (p.Gln76Arg)

SNV
Unknown

Chr8:1771281

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA264161

rs_386834125

1 SubmittersRCV000050118

NM_018941.4(CLN8):c.320T>G (p.Ile107Ser)

SNV
Unknown

Chr8:1771374

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA264163

rs_386834126

1 SubmittersRCV000050119

NM_018941.4(CLN8):c.464C>T (p.Ala155Val)

SNV
Unknown

Chr8:1771518

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA264167

rs_386834128

1 SubmittersRCV000050121

NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)

SNV
Germline

Chr8:1771527

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA264172

rs_386834130

10 SubmittersRCV000050123 RCV001377678 RCV002483067 RCV002514269

NM_018941.4(CLN8):c.507C>T (p.Ser169=)

SNV
Unknown

Chr8:1771561

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA264174

rs_386834131

2 SubmittersRCV000050124

NM_018941.4(CLN8):c.509C>T (p.Thr170Met)

SNV
Germline

Chr8:1771563

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 8
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA264177

rs_188259026

4 SubmittersRCV000050125 RCV001753470 RCV003387747

NM_018941.4(CLN8):c.581A>G (p.Gln194Arg)

SNV
Unknown

Chr8:1780287

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA264180

rs_386834133

1 SubmittersRCV000050127

NM_018941.4(CLN8):c.611G>T (p.Arg204Leu)

SNV
Germline

Chr8:1780317

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
not specified

Criteria Provided
Conflicting Classifications

CA264182

rs_386834134

3 SubmittersRCV000050128 RCV000632701 RCV002222375

NM_018941.4(CLN8):c.766C>G (p.Gln256Glu)

SNV
Unknown

Chr8:1780472

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA264191

rs_386834138

1 SubmittersRCV000050132

NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)

SNV
Germline

Chr8:1780498

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Criteria Provided
Conflicting Classifications

CA267596

rs_587779411

7 SubmittersRCV000087102 RCV000988030 RCV005042202

NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)

SNV
Germline

Chr8:1780415

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA274121

rs_746645358

7 SubmittersRCV000169279 RCV000187126 RCV003532006

NM_018941.4(CLN8):c.200C>T (p.Ala67Val)

SNV
Germline

Chr8:1771254

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 1
not specified

Criteria Provided
Conflicting Classifications

CA241753

rs_373957283

8 SubmittersRCV000632691 RCV000724133 RCV001273351 RCV001838985 RCV002317017 RCV003224189 RCV004782284

NM_018941.4(CLN8):c.11C>T (p.Ala4Val)

SNV
Germline

Chr8:1771065

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA302819

rs_147181589

7 SubmittersRCV000175911 RCV000465790 RCV001704258 RCV002314613 RCV004799187 RCV005889831

NM_018941.4(CLN8):c.806A>T (p.Glu269Val)

SNV
Germline

Chr8:1780512

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8
Condition: not provided
Neuronal ceroid lipofuscinosis
See cases
Inborn genetic diseases
CLN8-related disorder

Criteria Provided
Conflicting Classifications

CA243465

rs_139003032

14 SubmittersRCV000187131 RCV000515342 RCV000670572 RCV000723601 RCV001084070 RCV002252020 RCV002408767 RCV004537428

NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)

SNV
Germline

Chr8:1771428

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Intellectual disability
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Conflicting Classifications

CA314053

rs_142269885

17 SubmittersRCV000187142 RCV000656837 RCV000677331 RCV001080578 RCV001251946 RCV002314707 RCV003224205

NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)

SNV
Germline

Chr8:1771553

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA314014

rs_144495588

9 SubmittersRCV000187127 RCV000503130 RCV000665564 RCV002336495 RCV005042399

NM_018941.4(CLN8):c.522C>T (p.Cys174=)

SNV
Germline

Chr8:1771576

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
CLN8-related disorder

Criteria Provided
Conflicting Classifications

CA314002

rs_148417620

5 SubmittersRCV000187122 RCV000729236 RCV001079239 RCV002336494 RCV004539736

NM_018941.4(CLN8):c.725C>T (p.Thr242Met)

SNV
Germline

Chr8:1780431

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
CLN8-related disorder

Criteria Provided
Conflicting Classifications

CA314017

rs_138821993

5 SubmittersRCV000458992 RCV001704979 RCV004537573

NM_018941.4(CLN8):c.776A>G (p.Asn259Ser)

SNV
Germline

Chr8:1780482

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314061

rs_201956727

4 SubmittersRCV000187145 RCV000706746 RCV001833114 RCV002513993

NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)

SNV
Germline

Chr8:1780485

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA314020

rs_146579299

12 SubmittersRCV000187129 RCV000768188 RCV001080174 RCV001272624 RCV002247602 RCV002408830

NM_018941.4(CLN8):c.470A>G (p.His157Arg)

SNV
Germline

Chr8:1771524

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 8
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA277008

rs_149308952

7 SubmittersRCV000192707 RCV001580081 RCV002307439

NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)

SNV
Germline

Chr8:1771262

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA056214

rs_765097897

4 SubmittersRCV000988028 RCV006640501

NM_018941.4(CLN8):c.788G>A (p.Trp263Ter)

SNV
Germline

Chr8:1780494

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA10582576

rs_878855053

1 SubmittersRCV000230938

NM_018941.4(CLN8):c.207G>A (p.Thr69=)

SNV
Germline

Chr8:1771261

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4599226

rs_368365607

7 SubmittersRCV000251360 RCV000726178 RCV001082817 RCV001828146 RCV002418085

NM_018941.4(CLN8):c.648C>T (p.Phe216=)

SNV
Germline

Chr8:1780354

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4599328

rs_564074916

5 SubmittersRCV000331844 RCV000725017 RCV001085032 RCV002365298

NM_018941.4(CLN8):c.256C>T (p.Leu86=)

SNV
Germline

Chr8:1771310

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA4599232

rs_755248868

4 SubmittersRCV000390779 RCV001086060

NM_018941.4(CLN8):c.838C>T (p.Leu280=)

SNV
Germline

Chr8:1780544

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA10605059

rs_886043061

2 SubmittersRCV000339809 RCV001479855

NM_018941.4(CLN8):c.837G>A (p.Gln279=)

SNV
Germline

Chr8:1780543

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA10605317

rs_774442159

2 SubmittersRCV000351403 RCV006462337

NM_018941.4(CLN8):c.543+1G>T

SNV
Germline

Chr8:1771598

Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA4599282

rs_756267448

2 SubmittersRCV000410670 RCV001850955

NM_018941.4(CLN8):c.513C>G (p.Pro171=)

SNV
Germline

Chr8:1771567

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
CLN8-related disorder
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA4599279

rs_376910635

6 SubmittersRCV000726643 RCV002339051 RCV004539856 RCV001081197

NM_018941.4(CLN8):c.464C>A (p.Ala155Asp)

SNV
Germline

Chr8:1771518

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16618619

rs_386834128

1 SubmittersRCV000485243

NM_018941.4(CLN8):c.796G>A (p.Ala266Thr)

SNV
Germline

Chr8:1780502

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4599354

rs_766292710

4 SubmittersRCV000479521 RCV001273356 RCV001851272 RCV003278837

NM_018941.4(CLN8):c.1A>G (p.Met1Val)

SNV
Germline

Chr8:1771055

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4599166

rs_143730802

5 SubmittersRCV000677235 RCV001229215 RCV005409678

NM_018941.4(CLN8):c.510G>A (p.Thr170=)

SNV
Germline

Chr8:1771564

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4599277

rs_759153401

4 SubmittersRCV000591388 RCV001088085 RCV001829650 RCV002341522

NM_018941.4(CLN8):c.151G>A (p.Ala51Thr)

SNV
Germline

Chr8:1771205

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4599214

rs_777453297

3 SubmittersRCV000596520 RCV002531040 RCV005801835

NM_018941.4(CLN8):c.92G>A (p.Gly31Asp)

SNV
Germline

Chr8:1771146

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA369952852

rs_1366421988

1 SubmittersRCV000623561

NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)

SNV
Germline

Chr8:1780469

Pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA4599348

rs_746397087

3 SubmittersRCV000674890 RCV002544675

NM_018941.4(CLN8):c.283A>T (p.Lys95Ter)

SNV
Germline

Chr8:1771337

Pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA4599239

rs_759830733

2 SubmittersRCV000670971 RCV001868250

NM_018941.4(CLN8):c.306G>A (p.Trp102Ter)

SNV
Unknown

Chr8:1771360

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA369953280

rs_1554449124

1 SubmittersRCV000666024

NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)

SNV
Germline

Chr8:1771452

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA369953483

rs_554042394

3 SubmittersRCV000674248 RCV001381243

NM_018941.4(CLN8):c.544-2A>G

SNV
Unknown

Chr8:1780248

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA369953795

rs_1554451484

1 SubmittersRCV000668307

NM_018941.4(CLN8):c.2T>C (p.Met1Thr)

SNV
Unknown

Chr8:1771056

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

No Assertion Criteria Provided

CA369952681

rs_1554448874

1 SubmittersRCV000671294

NM_018941.4(CLN8):c.226C>T (p.Gln76Ter)

SNV
Germline

Chr8:1771280

Pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953125

rs_1554449047

2 SubmittersRCV000672400 RCV002532124

NM_018941.4(CLN8):c.312G>A (p.Trp104Ter)

SNV
Germline

Chr8:1771366

Pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA369953297

rs_1554449136

3 SubmittersRCV000672329 RCV001855577

NM_018941.4(CLN8):c.611G>A (p.Arg204His)

SNV
Germline

Chr8:1780317

Likely pathogenic

Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA4599319

rs_386834134

3 SubmittersRCV000673946 RCV001045975

NM_018941.4(CLN8):c.295C>T (p.Gln99Ter)

SNV
Germline

Chr8:1771349

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Condition: not provided
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA170445729

rs_750162094

4 SubmittersRCV000810062 RCV005427308 RCV005047096 RCV006642648

NM_018941.4(CLN8):c.473A>C (p.Tyr158Ser)

SNV
Unknown

Chr8:1771527

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953637

rs_386834130

1 SubmittersRCV000988029

NM_018941.4(CLN8):c.311G>A (p.Trp104Ter)

SNV
Germline

Chr8:1771365

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953295

rs_1801297484

1 SubmittersRCV001057047

NM_018941.4(CLN8):c.523G>A (p.Val175Ile)

SNV
Germline

Chr8:1771577

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Conflicting Classifications

CA4599280

rs_768139689

3 SubmittersRCV001052230 RCV001772259 RCV001832480

NM_018941.4(CLN8):c.209G>C (p.Arg70Pro)

SNV
Germline

Chr8:1771263

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Conflicting Classifications

CA369953092

rs_386834124

3 SubmittersRCV001373416 RCV002246347

NM_018941.4(CLN8):c.455A>G (p.Asn152Ser)

SNV
Germline

Chr8:1771509

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA4599267

rs_138581191

5 SubmittersRCV001359907 RCV001549577 RCV002341751 RCV005911248

NM_018941.4(CLN8):c.130C>T (p.Gln44Ter)

SNV
Germline

Chr8:1771184

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369952934

rs_2130990747

1 SubmittersRCV001381074

NM_018941.4(CLN8):c.29C>G (p.Ser10Ter)

SNV
Germline

Chr8:1771083

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA369952735

rs_1454175058

2 SubmittersRCV001917477 RCV006639056

NM_018941.4(CLN8):c.635G>A (p.Trp212Ter)

SNV
Germline

Chr8:1780341

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369954001

rs_2129015230

1 SubmittersRCV001920978

NM_018941.4(CLN8):c.126C>A (p.Cys42Ter)

SNV
Germline

Chr8:1771180

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369952923

rs_192196274

1 SubmittersRCV001994795

NM_018941.4(CLN8):c.543+1G>A

SNV
Germline

Chr8:1771598

Pathogenic

Neuronal ceroid lipofuscinosis
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA369953788

rs_756267448

2 SubmittersRCV001999996 RCV005924363

NM_018941.4(CLN8):c.105C>G (p.Tyr35Ter)

SNV
Germline

Chr8:1771159

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369952882

rs_2130990601

1 SubmittersRCV002007433

NM_018941.4(CLN8):c.539T>A (p.Leu180Ter)

SNV
Germline

Chr8:1771593

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953775

rs_1801309834

1 SubmittersRCV001941941

NM_018941.4(CLN8):c.544-1G>T

SNV
Unknown

Chr8:1780249

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

Criteria Provided
Single Submitter

CA369953799

rs_2486488212

1 SubmittersRCV002488681

NM_018941.4(CLN8):c.835C>T (p.Gln279Ter)

SNV
Germline

Chr8:1780541

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Conflicting Classifications

CA369954428

rs_2486491551

2 SubmittersRCV003084064 RCV006641202

NM_018941.4(CLN8):c.782T>C (p.Val261Ala)

SNV
Germline

Chr8:1780488

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Criteria Provided
Conflicting Classifications

CA369954313

rs_1310195190

2 SubmittersRCV003087898 RCV003883879

NM_018941.4(CLN8):c.71G>T (p.Arg24Leu)

SNV
Germline

Chr8:1771125

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369952817

rs_762079123

1 SubmittersRCV003078046

NM_018941.4(CLN8):c.159C>A (p.Tyr53Ter)

SNV
Germline

Chr8:1771213

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA4599218

rs_780551031

1 SubmittersRCV003082535

NM_018941.4(CLN8):c.610C>G (p.Arg204Gly)

SNV
Germline

Chr8:1780316

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953952

rs_104894060

1 SubmittersRCV002594682

NM_018941.4(CLN8):c.766C>T (p.Gln256Ter)

SNV
Germline

Chr8:1780472

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369954282

rs_386834138

1 SubmittersRCV002695903

NM_018941.4(CLN8):c.71G>A (p.Arg24His)

SNV
Germline

Chr8:1771125

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis
not specified

Criteria Provided
Conflicting Classifications

CA4599188

rs_762079123

2 SubmittersRCV002938528 RCV003331405

NM_018941.4(CLN8):c.709G>C (p.Gly237Arg)

SNV
Germline

Chr8:1780415

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369954161

rs_746645358

1 SubmittersRCV003014527

NM_018941.4(CLN8):c.544-6A>T

SNV
Germline

Chr8:1780244

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA579552642

rs_200435861

2 SubmittersRCV002831535 RCV003777829

NM_018941.4(CLN8):c.447C>A (p.Cys149Ter)

SNV
Germline

Chr8:1771501

Pathogenic

Neuronal ceroid lipofuscinosis 8

Criteria Provided
Single Submitter

CA369953587

rs_758707781

1 SubmittersRCV003388644

NM_018941.4(CLN8):c.607T>C (p.Cys203Arg)

SNV
Germline

Chr8:1780313

Likely pathogenic

Neuronal ceroid lipofuscinosis 8

Criteria Provided
Single Submitter

CA369953944

rs_2486488805

1 SubmittersRCV003388919

NM_018941.4(CLN8):c.530G>A (p.Trp177Ter)

SNV
Germline

Chr8:1771584

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953753

rs_2486443393

1 SubmittersRCV003533876

NM_018941.4(CLN8):c.1A>T (p.Met1Leu)

SNV
Germline

Chr8:1771055

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369952679

rs_143730802

1 SubmittersRCV003531753

NM_018941.4(CLN8):c.627C>G (p.Tyr209Ter)

SNV
Germline

Chr8:1780333

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953982

rs_2486489059

1 SubmittersRCV003531840

NM_018941.4(CLN8):c.377T>A (p.Leu126Ter)

SNV
Germline

Chr8:1771431

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA369953436

rs_2486441460

1 SubmittersRCV003648286

NM_018941.4(CLN8):c.757A>G (p.Lys253Glu)

SNV
Unknown

Chr8:1780463

Likely pathogenic

Seizure

Criteria Provided
Single Submitter

CA369954261

rs_1801681007

1 SubmittersRCV004545972

NM_018941.4(CLN8):c.609C>A (p.Cys203Ter)

SNV
Germline

Chr8:1780315

Likely pathogenic

Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8

Criteria Provided
Single Submitter

1 SubmittersRCV005051599

NM_018941.4(CLN8):c.191G>A (p.Trp64Ter)

SNV
Germline

Chr8:1771245

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005118765

NM_018941.4(CLN8):c.551G>A (p.Trp184Ter)

SNV
Germline

Chr8:1780257

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005179229

NM_018941.4(CLN8):c.620T>G (p.Leu207Arg)

SNV
Germline

Chr8:1780326

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005200666

NM_018941.4(CLN8):c.248G>A (p.Trp83Ter)

SNV
Germline

Chr8:1771302

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV006503045

NM_018941.4(CLN8):c.298C>T (p.Gln100Ter)

SNV
Germline

Chr8:1771352

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV006516820

NM_018941.4(CLN8):c.1A>C (p.Met1Leu)

SNV
Germline

Chr8:1771055

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV006626618