Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg)	SNV Germline	Chr11:6616057	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis TPP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252376	rs_119455953	5 SubmittersRCV000002760 RCV001248011 RCV004579515 RCV004554579
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)	SNV Germline	Chr11:6616056	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 TPP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252377	rs_119455954	12 SubmittersRCV000002761 RCV000189781 RCV000526403 RCV002496238 RCV004758587
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)	SNV Germline	Chr11:6617040	Pathogenic	Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases Condition: not provided Neuronal ceroid lipofuscinosis Abnormality of the nervous system Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 TPP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA319182	rs_119455955	33 SubmittersRCV000002762 RCV000210605 RCV000189769 RCV000230952 RCV001813939 RCV000763267 RCV004554580
NM_000391.4(TPP1):c.509-1G>C	SNV Germline	Chr11:6617154	Pathogenic	Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Inborn genetic diseases Neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 TPP1-related disorder Malignant tumor of urinary bladder Ovarian serous cystadenocarcinoma Lung cancer Retinal disorder Familial cancer of breast Autosomal recessive TPP1-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA145458	rs_56144125	42 SubmittersRCV000002763 RCV000074608 RCV000210689 RCV000228119 RCV000189765 RCV000763268 RCV004554581 RCV005887223 RCV005887224 RCV005887225 RCV006634816 RCV005887222 RCV006695482
NM_000391.4(TPP1):c.1340G>A (p.Arg447His)	SNV Germline	Chr11:6615256	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA252378	rs_119455956	12 SubmittersRCV000002764 RCV000189790 RCV005049313 RCV006456594
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys)	SNV Germline	Chr11:6617046	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252379	rs_28940573	7 SubmittersRCV000002765 RCV001382645
NM_000391.4(TPP1):c.851G>T (p.Gly284Val)	SNV Germline	Chr11:6616696	Pathogenic	Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252380	rs_119455957	7 SubmittersRCV000002766 RCV000763266 RCV000531153
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)	SNV Germline	Chr11:6616690	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA252381	rs_119455958	6 SubmittersRCV000002767 RCV001851588 RCV006456595
NM_000391.4(TPP1):c.887-10A>G	SNV Germline	Chr11:6616513	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Conflicting Classifications	CA252382	rs_755445790	6 SubmittersRCV000002768 RCV000359791 RCV005049314
NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys)	SNV Germline	Chr11:6616363	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA266177	rs_121908197	4 SubmittersRCV000059616 RCV001069102 RCV005237495
NM_000391.4(TPP1):c.1154T>A (p.Val385Asp)	SNV Germline	Chr11:6615554	Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Single Submitter	CA266179	rs_121908198	2 SubmittersRCV000059618 RCV001854251
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu)	SNV Germline	Chr11:6615542	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA266180	rs_121908199	4 SubmittersRCV000059619 RCV000541263
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)	SNV Germline	Chr11:6615442	Pathogenic	Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases Condition: not provided Neuronal ceroid lipofuscinosis Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA266181	rs_121908200	8 SubmittersRCV000059620 RCV000210643 RCV000189782 RCV000529451 RCV001252369 RCV005049415
NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu)	SNV Germline	Chr11:6615235	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	No Assertion Criteria Provided	CA266182	rs_121908201	2 SubmittersRCV000059621
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg)	SNV Germline	Chr11:6615179	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA266183	rs_121908203	6 SubmittersRCV000059622 RCV001854252 RCV005049416
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)	SNV Germline	Chr11:6615172	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA266184	rs_121908202	11 SubmittersRCV000059623 RCV000800616 RCV002307388 RCV005049417
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg)	SNV Germline	Chr11:6618776	Pathogenic	Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA266187	rs_121908195	4 SubmittersRCV000059626 RCV001731479 RCV001854253
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)	SNV Germline	Chr11:6617626	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA266188	rs_121908204	8 SubmittersRCV000059628 RCV000494361 RCV002281905
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu)	SNV Germline	Chr11:6617057	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA266189	rs_121908205	4 SubmittersRCV000059629 RCV001854254
NM_000391.4(TPP1):c.617G>A (p.Arg206His)	SNV Germline	Chr11:6617045	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA266190	rs_121908209	9 SubmittersRCV000059630 RCV000469057 RCV001200081 RCV002354256
NM_000391.4(TPP1):c.829G>A (p.Val277Met)	SNV Germline	Chr11:6616718	Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA266191	rs_121908207	2 SubmittersRCV000059631 RCV001778699
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)	SNV Germline	Chr11:6615199	Pathogenic/Likely pathogenic	Autosomal recessive spinocerebellar ataxia 7 Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA145459	rs_398122959	7 SubmittersRCV000074609 RCV001529105 RCV006644501
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)	SNV Germline	Chr11:6619387	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA220703	rs_138976576	14 SubmittersRCV000189797 RCV000723684 RCV000674709 RCV001280958 RCV002316221
NM_000391.4(TPP1):c.840G>C (p.Leu280=)	SNV Germline	Chr11:6616707	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA289080	rs_140349036	11 SubmittersRCV000118657 RCV000343988 RCV000473376 RCV002311556
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)	SNV Germline	Chr11:6617713	Conflicting classifications of pathogenicity	Condition: not provided not specified Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA231553	rs_140726254	13 SubmittersRCV000118653 RCV000186669 RCV000509378 RCV002313926
NM_000391.4(TPP1):c.1551+1G>A	SNV Germline	Chr11:6614865	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274113	rs_786204553	5 SubmittersRCV000169269 RCV000524081
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)	SNV Germline	Chr11:6615217	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA274465	rs_786204753	5 SubmittersRCV000169608 RCV000189791 RCV002498846
NM_000391.4(TPP1):c.1552-9C>T	SNV Germline	Chr11:6614695	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 not specified	Criteria Provided Conflicting Classifications	CA240010	rs_369699167	6 SubmittersRCV000724266 RCV001107389 RCV006688541
NM_000391.4(TPP1):c.244C>T (p.Leu82=)	SNV Germline	Chr11:6617762	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA245102	rs_794727623	2 SubmittersRCV000178082
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe)	SNV Germline	Chr11:6617120	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases TPP1-related disorder	Criteria Provided Conflicting Classifications	CA246564	rs_139059149	8 SubmittersRCV000179300 RCV000724369 RCV002314660 RCV004758666
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)	SNV Germline	Chr11:6616374	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA247530	rs_765380155	11 SubmittersRCV000180153 RCV000625040
NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter)	SNV Germline	Chr11:6614638	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA319218	rs_1554901472	2 SubmittersRCV001385651 RCV001828011
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe)	SNV Germline	Chr11:6614874	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319216	rs_748345018	4 SubmittersRCV000189794 RCV001274536 RCV002399705
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)	SNV Germline	Chr11:6614891	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319214	rs_149529997	5 SubmittersRCV000189793 RCV000764996 RCV001274537 RCV002390502
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met)	SNV Germline	Chr11:6615316	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Intellectual disability Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319206	rs_201034755	5 SubmittersRCV000189787 RCV000764997 RCV001252368 RCV002381645
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)	SNV Germline	Chr11:6616375	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases Neuronal ceroid lipofuscinosis Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA319198	rs_750428882	9 SubmittersRCV000189779 RCV001329231 RCV002317664 RCV003401035 RCV005049466
NM_000391.4(TPP1):c.845G>A (p.Ser282Asn)	SNV Germline	Chr11:6616702	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA319192	rs_796053440	1 SubmittersRCV000189775
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)	SNV Germline	Chr11:6616714	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA319191	rs_796053439	6 SubmittersRCV000189774 RCV000209853 RCV003235113
NM_000391.4(TPP1):c.827A>T (p.Asp276Val)	SNV Germline	Chr11:6616720	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA319189	rs_763162812	8 SubmittersRCV000189773 RCV000666770 RCV002485283
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)	SNV Germline	Chr11:6616751	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA319225	rs_200138397	5 SubmittersRCV000384515 RCV000725967
NM_000391.4(TPP1):c.776G>A (p.Arg259His)	SNV Germline	Chr11:6616771	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319186	rs_140176031	5 SubmittersRCV000189771 RCV000764999 RCV001274539 RCV002317662
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu)	SNV Germline	Chr11:6617024	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Conflicting Classifications	CA319184	rs_773546205	5 SubmittersRCV000189770 RCV001274540 RCV001578829
NM_000391.4(TPP1):c.509-1G>A	SNV Germline	Chr11:6617154	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA319175	rs_56144125	9 SubmittersRCV000189764 RCV000586250 RCV000673911 RCV002336504 RCV005049465
NM_000391.4(TPP1):c.425T>G (p.Val142Gly)	SNV Germline	Chr11:6617384	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA319169	rs_775217501	3 SubmittersRCV000189761 RCV001833128
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)	SNV Germline	Chr11:6617627	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 Angelman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA319165	rs_756564767	13 SubmittersRCV000189759 RCV000763269 RCV000792396 RCV001004372 RCV001804926
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg)	SNV Germline	Chr11:6617687	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA319163	rs_201613668	4 SubmittersRCV000189758 RCV000765000 RCV001274542
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)	SNV Germline	Chr11:6617695	Pathogenic	Condition: not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA319150	rs_202189057	8 SubmittersRCV000189751 RCV000210549 RCV000984312 RCV002492873 RCV004800327
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)	SNV Germline	Chr11:6617746	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319132	rs_148064565	7 SubmittersRCV000189741 RCV000766956 RCV001274545 RCV002314770
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)	SNV Germline	Chr11:6618776	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA319162	rs_121908195	7 SubmittersRCV000189757 RCV000673684 RCV001731509
NM_000391.4(TPP1):c.228C>T (p.Tyr76=)	SNV Germline	Chr11:6618777	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA319130	rs_373318861	2 SubmittersRCV000189740 RCV001852518
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu)	SNV Germline	Chr11:6618808	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319158	rs_751088292	5 SubmittersRCV000189755 RCV001833127 RCV002415815
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)	SNV Germline	Chr11:6618809	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA319156	rs_759080581	5 SubmittersRCV000189754 RCV000824347 RCV006640438
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)	SNV Germline	Chr11:6618904	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA319148	rs_138448968	9 SubmittersRCV000189750 RCV000341505 RCV000765001 RCV002362994 RCV005406918
NM_000391.4(TPP1):c.89+5G>C	SNV Germline	Chr11:6619191	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA319224	rs_746085696	3 SubmittersRCV000189799 RCV003235114
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)	SNV Germline	Chr11:6619394	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Conflicting Classifications	CA319144	rs_142163063	7 SubmittersRCV000726300 RCV001274548 RCV002314771 RCV003224212
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser)	SNV Germline	Chr11:6615220	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA277862	rs_864309505	2 SubmittersRCV000202601
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser)	SNV Unknown	Chr11:6617353	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	No Assertion Criteria Provided	CA351534	rs_869025274	1 SubmittersRCV000207147
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter)	SNV Germline	Chr11:6617338	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10583994	rs_553522118	3 SubmittersRCV000234824 RCV003137850
NM_000391.4(TPP1):c.509-1G>T	SNV Germline	Chr11:6617154	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA10603269	rs_56144125	4 SubmittersRCV000391641 RCV000666428
NM_000391.4(TPP1):c.687+20C>T	SNV Germline	Chr11:6616955	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA5858877	rs_569432039	3 SubmittersRCV000280348
NM_000391.4(TPP1):c.1653C>G (p.Pro551=)	SNV Germline	Chr11:6614585	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided not specified TPP1-related disorder	Criteria Provided Conflicting Classifications	CA5858594	rs_372564255	6 SubmittersRCV000365676 RCV000726663 RCV000444737 RCV004554762
NM_000391.4(TPP1):c.1116C>T (p.His372=)	SNV Germline	Chr11:6616034	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10635359	rs_751321300	2 SubmittersRCV000354560 RCV002056219
NM_000391.4(TPP1):c.886+7C>T	SNV Germline	Chr11:6616654	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10639086	rs_886048543	2 SubmittersRCV000289036 RCV001476514
NM_000391.4(TPP1):c.1281G>A (p.Thr427=)	SNV Germline	Chr11:6615315	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5858679	rs_577520250	4 SubmittersRCV000357888 RCV000867657
NM_000391.4(TPP1):c.1552-1G>A	SNV Unknown	Chr11:6614687	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	No Assertion Criteria Provided	CA16041509	rs_1057516511	1 SubmittersRCV000409021
NM_000391.4(TPP1):c.1551+1G>C	SNV Germline	Chr11:6614865	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA16041510	rs_786204553	4 SubmittersRCV001038809 RCV005049534 RCV000411444
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter)	SNV Germline	Chr11:6615449	Pathogenic	Neuronal ceroid lipofuscinosis 2 Abnormality of the nervous system Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041512	rs_1057516319	4 SubmittersRCV000411513 RCV001814153 RCV005049533 RCV005415567
NM_000391.4(TPP1):c.1145+1G>A	SNV Germline	Chr11:6616004	Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Single Submitter	CA16041513	rs_113019349	2 SubmittersRCV000411197 RCV001378362
NM_000391.4(TPP1):c.687+2T>G	SNV Germline	Chr11:6616973	Pathogenic	Neuronal ceroid lipofuscinosis 2 Abnormality of the nervous system	Criteria Provided Single Submitter	CA16041515	rs_1057516945	2 SubmittersRCV000411672 RCV001836808
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter)	SNV Germline	Chr11:6617022	Pathogenic	Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA5858889	rs_752164603	3 SubmittersRCV000411357 RCV003114527
NM_000391.4(TPP1):c.230-1G>C	SNV Unknown	Chr11:6617777	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	No Assertion Criteria Provided	CA16041517	rs_1057516667	1 SubmittersRCV000410411
NM_000391.4(TPP1):c.887-18A>G	SNV Germline	Chr11:6616521	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA16606000	rs_935526225	3 SubmittersRCV000428562 RCV000984313
NM_000391.4(TPP1):c.-3A>G	SNV Germline	Chr11:6619403	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5859108	rs_762785189	2 SubmittersRCV000439298 RCV002356530
NM_000391.4(TPP1):c.207G>A (p.Ser69=)	SNV Germline	Chr11:6618798	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA5859031	rs_761070664	2 SubmittersRCV000946272
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn)	SNV Germline	Chr11:6616332	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Conflicting Classifications	CA5858785	rs_145966505	6 SubmittersRCV000437106 RCV001375972 RCV002313067 RCV005049548
NM_000391.4(TPP1):c.509-5T>C	SNV Germline	Chr11:6617158	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases TPP1-related disorder	Criteria Provided Conflicting Classifications	CA5858907	rs_375548657	5 SubmittersRCV000863964 RCV002524808 RCV004554769
NM_000391.4(TPP1):c.380+3G>A	SNV Germline	Chr11:6617623	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA5858984	rs_781744173	2 SubmittersRCV000422701 RCV002524807
NM_000391.4(TPP1):c.182T>G (p.Leu61Arg)	SNV Germline	Chr11:6618823	Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA16613437	rs_1060502179	2 SubmittersRCV001379112 RCV006452652
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys)	SNV Germline	Chr11:6615257	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA217321529	rs_1035033641	3 SubmittersRCV000489192 RCV001829405
NM_000391.4(TPP1):c.1146-1G>A	SNV Germline	Chr11:6615563	Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA379473210	rs_1131691676	3 SubmittersRCV001829413 RCV000494500 RCV003403142
NM_000391.4(TPP1):c.787C>T (p.Gln263Ter)	SNV Germline	Chr11:6616760	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA379475071	rs_1131691539	3 SubmittersRCV000494434 RCV004800428
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln)	SNV Germline	Chr11:6619202	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5859069	rs_369126677	5 SubmittersRCV000516351 RCV001274547 RCV001298569 RCV002316473
NM_000391.4(TPP1):c.1551+5G>A	SNV Germline	Chr11:6614861	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5858620	rs_778756815	3 SubmittersRCV000522147 RCV001829527 RCV002404352
NM_000391.4(TPP1):c.554G>A (p.Arg185His)	SNV Germline	Chr11:6617108	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5858899	rs_773455971	2 SubmittersRCV000548960 RCV005286114
NM_000391.4(TPP1):c.381-2A>G	SNV Germline	Chr11:6617430	Likely pathogenic	Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379476090	rs_1554902052	3 SubmittersRCV000589489 RCV000670849 RCV001860125
NM_000391.4(TPP1):c.6A>T (p.Gly2=)	SNV Germline	Chr11:6619395	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA5859105	rs_747594496	3 SubmittersRCV000601158 RCV000728656
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly)	SNV Germline	Chr11:6615503	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA379472987	rs_1471156821	3 SubmittersRCV000626244 RCV003884670
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala)	SNV Germline	Chr11:6614982	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5858644	rs_756530648	3 SubmittersRCV001829780 RCV001860495
NM_000391.4(TPP1):c.858C>A (p.Asn286Lys)	SNV Germline	Chr11:6616689	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379474914	rs_1420315178	1 SubmittersRCV001359419
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)	SNV Germline	Chr11:6614892	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis Condition: not provided Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA379472297	rs_1184563885	7 SubmittersRCV000666347 RCV001526988 RCV001386654 RCV002530680
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro)	SNV Germline	Chr11:6616714	Pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA379474984	rs_796053439	3 SubmittersRCV000667845
NM_000391.4(TPP1):c.225A>G (p.Gln75=)	SNV Germline	Chr11:6618780	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA5859027	rs_368709098	8 SubmittersRCV000668623 RCV001215564 RCV001644760 RCV005049644
NM_000391.4(TPP1):c.1076-1G>A	SNV Germline	Chr11:6616075	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Single Submitter	CA379473915	rs_1554901731	2 SubmittersRCV000666279 RCV001208874
NM_000391.4(TPP1):c.1076-2A>T	SNV Germline	Chr11:6616076	Pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379473917	rs_1424116749	4 SubmittersRCV000670860 RCV001379972
NM_000391.4(TPP1):c.1076-2A>G	SNV Germline	Chr11:6616076	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA379473919	rs_1424116749	4 SubmittersRCV000667649 RCV001379383 RCV003230565
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)	SNV Germline	Chr11:6616342	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA379474088	rs_1554901784	7 SubmittersRCV000668234 RCV001058281 RCV003117472 RCV005049642
NM_000391.4(TPP1):c.731T>C (p.Met244Thr)	SNV Germline	Chr11:6616816	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA379475182	rs_1554901895	4 SubmittersRCV000672940 RCV005091958 RCV006459797
NM_000391.4(TPP1):c.17+1G>A	SNV Germline	Chr11:6619383	Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Single Submitter	CA379477089	rs_779615685	2 SubmittersRCV000668665 RCV003767965
NM_000391.4(TPP1):c.1551+1G>T	SNV Germline	Chr11:6614865	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA379472238	rs_786204553	4 SubmittersRCV000674411 RCV003558528 RCV005049652
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter)	SNV Germline	Chr11:6617769	Pathogenic	Neuronal ceroid lipofuscinosis	No Assertion Criteria Provided	CA379476605	rs_1564855860	1 SubmittersRCV000678756
NM_000391.4(TPP1):c.1098G>A (p.Trp366Ter)	SNV Germline	Chr11:6616052	Pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA379473815	rs_1564854729	1 SubmittersRCV000680130
NM_000391.4(TPP1):c.122C>T (p.Ala41Val)	SNV Germline	Chr11:6618883	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5859047	rs_768795654	2 SubmittersRCV001242833 RCV002318204
NM_000391.4(TPP1):c.380+5G>A	SNV Germline/somatic	Chr11:6617621	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA913190239	rs_1564855725	3 SubmittersRCV000735435 RCV000988484
NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr)	SNV Germline	Chr11:6615245	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA379472663	rs_1589947644	2 SubmittersRCV001369652 RCV001825581
NM_000391.4(TPP1):c.437C>T (p.Thr146Met)	SNV Germline	Chr11:6617372	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Conflicting Classifications	CA5858952	rs_748686068	5 SubmittersRCV001104755 RCV001869254 RCV002501061
NM_000391.4(TPP1):c.325C>T (p.Gln109Ter)	SNV Germline	Chr11:6617681	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA379476327	rs_1589948943	3 SubmittersRCV000799250 RCV005049696 RCV006644658
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu)	SNV Germline	Chr11:6618842	Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA379476772	rs_1315730321	3 SubmittersRCV000797713 RCV001825562 RCV006262348
NM_000391.4(TPP1):c.858C>T (p.Asn286=)	SNV Germline	Chr11:6616689	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA472922663	rs_1420315178	2 SubmittersRCV000940505 RCV005392568
NM_000391.4(TPP1):c.687+1G>C	SNV Unknown	Chr11:6616974	Pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter	CA379475297	rs_1465284719	1 SubmittersRCV000988483
NM_000391.4(TPP1):c.679T>C (p.Cys227Arg)	SNV Germline	Chr11:6616983	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA379475319	rs_1855595805	3 SubmittersRCV001070527 RCV005913597
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)	SNV Germline	Chr11:6617328	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA5858944	rs_764256845	4 SubmittersRCV001065769 RCV002265936 RCV002497463 RCV006636568
NM_000391.4(TPP1):c.323C>T (p.Ala108Val)	SNV Germline	Chr11:6617683	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA5858991	rs_374132017	3 SubmittersRCV001068034 RCV001836109
NM_000391.4(TPP1):c.1267-2A>G	SNV Germline	Chr11:6615331	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379472848	rs_1855562978	1 SubmittersRCV001057360
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly)	SNV Germline	Chr11:6614978	Conflicting classifications of pathogenicity	Condition: not provided See cases	Criteria Provided Conflicting Classifications	CA379472468	rs_1192702664	3 SubmittersRCV001092692 RCV003128424
NM_000391.4(TPP1):c.65G>T (p.Ser22Ile)	SNV Germline	Chr11:6619220	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA5859075	rs_202025584	2 SubmittersRCV001092693
NM_000391.4(TPP1):c.993C>T (p.Ser331=)	SNV Germline	Chr11:6616397	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA472922480	rs_1855585414	2 SubmittersRCV001102829 RCV001433985
NM_000391.4(TPP1):c.1552-14A>C	SNV Germline	Chr11:6614700	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA217320833	rs_1006965532	2 SubmittersRCV001107390 RCV002067793
NM_000391.4(TPP1):c.1426-1G>A	SNV Germline	Chr11:6614992	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA217321161	rs_867927501	1 SubmittersRCV001221954
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp)	SNV Germline	Chr11:6616501	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2 not specified	Criteria Provided Conflicting Classifications	CA5858809	rs_553122824	4 SubmittersRCV001243103 RCV001836218 RCV006455560
NM_000391.4(TPP1):c.90-2A>T	SNV Germline	Chr11:6618917	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379476917	rs_1855627953	1 SubmittersRCV001227177
NM_000391.4(TPP1):c.1075+2T>C	SNV Germline	Chr11:6616313	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA379473972	rs_1855583482	4 SubmittersRCV001239840 RCV001828943 RCV005050306
NM_000391.4(TPP1):c.89+1G>A	SNV Germline	Chr11:6619195	Pathogenic	Autosomal recessive spinocerebellar ataxia 7	No Assertion Criteria Provided	CA379476929	rs_1855631590	1 SubmittersRCV001252370
NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro)	SNV Germline	Chr11:6615256	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA379472687	rs_119455956	1 SubmittersRCV001290314
NM_000391.4(TPP1):c.688-1G>T	SNV Germline	Chr11:6616860	Pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA379475288	rs_1855593862	1 SubmittersRCV001290315
NM_000391.4(TPP1):c.925A>T (p.Met309Leu)	SNV Germline	Chr11:6616465	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA217322694	rs_763854371	2 SubmittersRCV001319483 RCV004034973
NM_000391.4(TPP1):c.650G>T (p.Gly217Val)	SNV Germline	Chr11:6617012	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA217323401	rs_975304153	1 SubmittersRCV001379247
NM_000391.4(TPP1):c.617G>C (p.Arg206Pro)	SNV Germline	Chr11:6617045	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379475450	rs_121908209	1 SubmittersRCV001379665
NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter)	SNV Germline	Chr11:6614612	Pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA379472067	rs_2134590423	2 SubmittersRCV001387036 RCV002512153
NM_000391.4(TPP1):c.1218T>A (p.Tyr406Ter)	SNV Germline	Chr11:6615490	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379472958	rs_747179298	1 SubmittersRCV001386078
NM_000391.4(TPP1):c.509-2A>G	SNV Germline	Chr11:6617155	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379475658	rs_1855599946	1 SubmittersRCV001390988
NM_000391.4(TPP1):c.1323C>T (p.Tyr441=)	SNV Germline	Chr11:6615273	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA5858675	rs_757548236	2 SubmittersRCV001408281
NM_000391.4(TPP1):c.891G>T (p.Arg297=)	SNV Germline	Chr11:6616499	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA5858808	rs_750527536	2 SubmittersRCV001411103
NM_000391.4(TPP1):c.54A>T (p.Lys18Asn)	SNV Germline	Chr11:6619231	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5859078	rs_753509905	2 SubmittersRCV001438011 RCV002350866
NM_000391.4(TPP1):c.1671G>A (p.Leu557=)	SNV Germline	Chr11:6614567	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA5858592	rs_777267276	2 SubmittersRCV001490690
NM_000391.4(TPP1):c.824T>G (p.Leu275Arg)	SNV Germline	Chr11:6616723	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379475000	rs_2134594286	1 SubmittersRCV001532628
NM_000391.4(TPP1):c.1016G>T (p.Arg339Leu)	SNV Germline	Chr11:6616374	Conflicting classifications of pathogenicity	Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Conflicting Classifications	CA379474153	rs_765380155	2 SubmittersRCV001783896 RCV001823310
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro)	SNV Germline	Chr11:6618823	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA379476724	rs_1060502179	2 SubmittersRCV002028747 RCV003120801
NM_000391.4(TPP1):c.52A>T (p.Lys18Ter)	SNV Germline	Chr11:6619233	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379477010	rs_1469902314	1 SubmittersRCV001939828
NM_000391.4(TPP1):c.1425+2T>G	SNV Germline	Chr11:6615169	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379472502	rs_2134591515	1 SubmittersRCV002017801
NM_000391.4(TPP1):c.1540G>T (p.Gly514Ter)	SNV Germline	Chr11:6614877	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379472262	rs_2134590841	1 SubmittersRCV001881725
NM_000391.4(TPP1):c.649G>C (p.Gly217Arg)	SNV Germline	Chr11:6617013	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379475383	rs_1330875156	1 SubmittersRCV002027607
NM_000391.4(TPP1):c.509-6C>G	SNV Germline	Chr11:6617159	Conflicting classifications of pathogenicity	Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5858908	rs_778046473	2 SubmittersRCV002484587 RCV001926740
NM_000391.4(TPP1):c.1468G>T (p.Glu490Ter)	SNV Germline	Chr11:6614949	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379472411	rs_1855554832	1 SubmittersRCV001880756
NM_000391.4(TPP1):c.3G>C (p.Met1Ile)	SNV Germline	Chr11:6619398	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379477121	rs_2134599310	1 SubmittersRCV001966805
NM_000391.4(TPP1):c.472C>T (p.Gln158Ter)	SNV Germline	Chr11:6617337	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379475763	rs_2134595625	1 SubmittersRCV001949549
NM_000391.4(TPP1):c.790C>T (p.Gln264Ter)	SNV Germline	Chr11:6616757	Pathogenic	Neuronal ceroid lipofuscinosis Condition: not provided Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA379475063	rs_1405952769	3 SubmittersRCV002266274 RCV003560903 RCV006644794
NM_000391.4(TPP1):c.130G>T (p.Glu44Ter)	SNV Germline	Chr11:6618875	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Multiple Submitters No Conflicts	CA379476838	rs_2134598107	2 SubmittersRCV002275703
NM_000391.4(TPP1):c.1012C>T (p.Gln338Ter)	SNV Germline	Chr11:6616378	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA379474160	rs_2493798203	1 SubmittersRCV002287302
NM_000391.4(TPP1):c.904G>T (p.Glu302Ter)	SNV Unknown	Chr11:6616486	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA379474658	rs_2493798476	1 SubmittersRCV002309059
NM_000391.4(TPP1):c.638C>A (p.Ser213Ter)	SNV Unknown	Chr11:6617024	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA379475407	rs_773546205	1 SubmittersRCV002310309
NM_000391.4(TPP1):c.767C>A (p.Ser256Ter)	SNV Unknown	Chr11:6616780	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA379475104	rs_2493798930	1 SubmittersRCV002310313
NM_000391.4(TPP1):c.760C>T (p.Gln254Ter)	SNV Unknown	Chr11:6616787	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA379475119	rs_2493798943	1 SubmittersRCV002310324
NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter)	SNV Unknown	Chr11:6616671	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA379474836	rs_1176117951	1 SubmittersRCV002310333
NM_000391.4(TPP1):c.17+2T>A	SNV Germline	Chr11:6619382	Likely pathogenic	Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379477087	rs_2493803105	2 SubmittersRCV002406305 RCV003097138
NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu)	SNV Germline	Chr11:6616378	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379474161	rs_2493798203	2 SubmittersRCV002471430 RCV003574977
NM_000391.4(TPP1):c.1613C>A (p.Ser538Tyr)	SNV Germline	Chr11:6614625	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379472092	rs_755878872	1 SubmittersRCV003062332
NM_000391.4(TPP1):c.646G>A (p.Val216Met)	SNV Germline	Chr11:6617016	Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA379475390	rs_1344527425	3 SubmittersRCV003069412 RCV003230767 RCV005050723
NM_000391.4(TPP1):c.1145+2T>C	SNV Germline	Chr11:6616003	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379473625	rs_2493797587	1 SubmittersRCV002791596
NM_000391.4(TPP1):c.702T>G (p.Tyr234Ter)	SNV Germline	Chr11:6616845	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379475252	rs_2493799058	1 SubmittersRCV002801638
NM_000391.4(TPP1):c.605C>A (p.Pro202His)	SNV Germline	Chr11:6617057	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379475472	rs_121908205	1 SubmittersRCV002871575
NM_000391.4(TPP1):c.1603G>A (p.Gly535Ser)	SNV Germline	Chr11:6614635	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379472115	rs_2493795199	1 SubmittersRCV003039592
NM_000391.4(TPP1):c.550C>T (p.Gln184Ter)	SNV Germline	Chr11:6617112	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379475583	rs_2493799507	1 SubmittersRCV003052135
NM_000391.4(TPP1):c.1425+1G>A	SNV Germline	Chr11:6615170	Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7	Criteria Provided Multiple Submitters No Conflicts	CA379472507	rs_1855559040	2 SubmittersRCV003131758 RCV005051267
NM_000391.4(TPP1):c.230-2A>G	SNV Germline	Chr11:6617778	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA379476628	rs_2493800555	1 SubmittersRCV003226105
NM_000391.4(TPP1):c.1146-199G>A	SNV Germline	Chr11:6615761	Pathogenic	Neuronal ceroid lipofuscinosis 2	No Assertion Criteria Provided	CA2697548400	rs_2493797341	1 SubmittersRCV003486538
NM_000391.4(TPP1):c.1097G>A (p.Trp366Ter)	SNV Germline	Chr11:6616053	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379473825	rs_2493797672	1 SubmittersRCV003552362
NM_000391.4(TPP1):c.382C>T (p.Gln128Ter)	SNV Germline	Chr11:6617427	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379476082	rs_2493800029	1 SubmittersRCV003571752
NM_000391.4(TPP1):c.649G>A (p.Gly217Ser)	SNV Germline	Chr11:6617013	Likely pathogenic	Condition: not provided Cervical cancer Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter	CA379475384	rs_1330875156	3 SubmittersRCV003679375 RCV005931640 RCV005609025
NM_000391.4(TPP1):c.1266+1G>T	SNV Germline	Chr11:6615441	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379472853	rs_2493796805	1 SubmittersRCV003721052
NM_000391.4(TPP1):c.1570G>T (p.Glu524Ter)	SNV Germline	Chr11:6614668	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379472190	rs_1157546558	1 SubmittersRCV003683814
NM_000391.4(TPP1):c.687+2T>A	SNV Germline	Chr11:6616973	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379475295	rs_1057516945	1 SubmittersRCV003692849
NM_000391.4(TPP1):c.230-1G>A	SNV Germline	Chr11:6617777	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379476625	rs_1057516667	1 SubmittersRCV003704187
NM_000391.4(TPP1):c.1444G>A (p.Gly482Arg)	SNV Germline	Chr11:6614973	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379472459	rs_121908208	1 SubmittersRCV003729537
NM_000391.4(TPP1):c.1266+1G>A	SNV Germline	Chr11:6615441	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379472854	rs_2493796805	1 SubmittersRCV003737622
NM_000391.4(TPP1):c.1117C>T (p.Gln373Ter)	SNV Germline	Chr11:6616033	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379473740	rs_112812685	1 SubmittersRCV003858523
NM_000391.4(TPP1):c.565C>T (p.Gln189Ter)	SNV Germline	Chr11:6617097	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA379475552	rs_2493799479	1 SubmittersRCV003884182
NM_000391.4(TPP1):c.1551+5G>C	SNV Germline	Chr11:6614861	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004698186
NM_000391.4(TPP1):c.916C>T (p.Gln306Ter)	SNV Germline	Chr11:6616474	Likely pathogenic	Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter			1 SubmittersRCV005051087
NM_000391.4(TPP1):c.1075+2T>G	SNV Germline	Chr11:6616313	Likely pathogenic	Neuronal ceroid lipofuscinosis	Criteria Provided Single Submitter			1 SubmittersRCV005088594
NM_000391.4(TPP1):c.1445G>A (p.Gly482Glu)	SNV Germline	Chr11:6614972	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005107286
NM_000391.4(TPP1):c.349C>T (p.Gln117Ter)	SNV Germline	Chr11:6617657	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005120790
NM_000391.4(TPP1):c.901C>T (p.Gln301Ter)	SNV Germline	Chr11:6616489	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005162121
NM_000391.4(TPP1):c.1625G>A (p.Trp542Ter)	SNV Germline	Chr11:6614613	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005174783
NM_000391.4(TPP1):c.1266+2T>A	SNV Germline	Chr11:6615440	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter			1 SubmittersRCV005606060
NM_000391.4(TPP1):c.617G>T (p.Arg206Leu)	SNV Germline	Chr11:6617045	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005631674
NM_000391.4(TPP1):c.10C>T (p.Gln4Ter)	SNV Germline	Chr11:6619391	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006530883
NM_000391.4(TPP1):c.1204G>A (p.Glu402Lys)	SNV Germline	Chr11:6615504	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006624020
NM_000391.4(TPP1):c.1421C>T (p.Thr474Ile)	SNV Germline	Chr11:6615175	Likely pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter			1 SubmittersRCV006645094
NM_000391.4(TPP1):c.509-2A>T	SNV Germline	Chr11:6617155	Pathogenic	Neuronal ceroid lipofuscinosis 2	Criteria Provided Single Submitter			1 SubmittersRCV006638415

NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg)

SNV
Germline

Chr11:6616057

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis
TPP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252376

rs_119455953

5 SubmittersRCV000002760 RCV001248011 RCV004579515 RCV004554579

NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)

SNV
Germline

Chr11:6616056

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
TPP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252377

rs_119455954

12 SubmittersRCV000002761 RCV000189781 RCV000526403 RCV002496238 RCV004758587

NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)

SNV
Germline

Chr11:6617040

Pathogenic

Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases
Condition: not provided
Neuronal ceroid lipofuscinosis
Abnormality of the nervous system
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
TPP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA319182

rs_119455955

33 SubmittersRCV000002762 RCV000210605 RCV000189769 RCV000230952 RCV001813939 RCV000763267 RCV004554580

NM_000391.4(TPP1):c.509-1G>C

SNV
Germline

Chr11:6617154

Pathogenic

Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Inborn genetic diseases
Neuronal ceroid lipofuscinosis
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
TPP1-related disorder
Malignant tumor of urinary bladder
Ovarian serous cystadenocarcinoma
Lung cancer
Retinal disorder
Familial cancer of breast
Autosomal recessive TPP1-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA145458

rs_56144125

42 SubmittersRCV000002763 RCV000074608 RCV000210689 RCV000228119 RCV000189765 RCV000763268 RCV004554581 RCV005887223 RCV005887224 RCV005887225 RCV006634816 RCV005887222 RCV006695482

NM_000391.4(TPP1):c.1340G>A (p.Arg447His)

SNV
Germline

Chr11:6615256

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252378

rs_119455956

12 SubmittersRCV000002764 RCV000189790 RCV005049313 RCV006456594

NM_000391.4(TPP1):c.616C>T (p.Arg206Cys)

SNV
Germline

Chr11:6617046

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252379

rs_28940573

7 SubmittersRCV000002765 RCV001382645

NM_000391.4(TPP1):c.851G>T (p.Gly284Val)

SNV
Germline

Chr11:6616696

Pathogenic

Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252380

rs_119455957

7 SubmittersRCV000002766 RCV000763266 RCV000531153

NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)

SNV
Germline

Chr11:6616690

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252381

rs_119455958

6 SubmittersRCV000002767 RCV001851588 RCV006456595

NM_000391.4(TPP1):c.887-10A>G

SNV
Germline

Chr11:6616513

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Conflicting Classifications

CA252382

rs_755445790

6 SubmittersRCV000002768 RCV000359791 RCV005049314

NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys)

SNV
Germline

Chr11:6616363

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA266177

rs_121908197

4 SubmittersRCV000059616 RCV001069102 RCV005237495

NM_000391.4(TPP1):c.1154T>A (p.Val385Asp)

SNV
Germline

Chr11:6615554

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Single Submitter

CA266179

rs_121908198

2 SubmittersRCV000059618 RCV001854251

NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu)

SNV
Germline

Chr11:6615542

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA266180

rs_121908199

4 SubmittersRCV000059619 RCV000541263

NM_000391.4(TPP1):c.1266G>C (p.Gln422His)

SNV
Germline

Chr11:6615442

Pathogenic

Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases
Condition: not provided
Neuronal ceroid lipofuscinosis
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA266181

rs_121908200

8 SubmittersRCV000059620 RCV000210643 RCV000189782 RCV000529451 RCV001252369 RCV005049415

NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu)

SNV
Germline

Chr11:6615235

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

No Assertion Criteria Provided

CA266182

rs_121908201

2 SubmittersRCV000059621

NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg)

SNV
Germline

Chr11:6615179

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA266183

rs_121908203

6 SubmittersRCV000059622 RCV001854252 RCV005049416

NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)

SNV
Germline

Chr11:6615172

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA266184

rs_121908202

11 SubmittersRCV000059623 RCV000800616 RCV002307388 RCV005049417

NM_000391.4(TPP1):c.229G>A (p.Gly77Arg)

SNV
Germline

Chr11:6618776

Pathogenic

Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA266187

rs_121908195

4 SubmittersRCV000059626 RCV001731479 RCV001854253

NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)

SNV
Germline

Chr11:6617626

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA266188

rs_121908204

8 SubmittersRCV000059628 RCV000494361 RCV002281905

NM_000391.4(TPP1):c.605C>T (p.Pro202Leu)

SNV
Germline

Chr11:6617057

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA266189

rs_121908205

4 SubmittersRCV000059629 RCV001854254

NM_000391.4(TPP1):c.617G>A (p.Arg206His)

SNV
Germline

Chr11:6617045

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA266190

rs_121908209

9 SubmittersRCV000059630 RCV000469057 RCV001200081 RCV002354256

NM_000391.4(TPP1):c.829G>A (p.Val277Met)

SNV
Germline

Chr11:6616718

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA266191

rs_121908207

2 SubmittersRCV000059631 RCV001778699

NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)

SNV
Germline

Chr11:6615199

Pathogenic/Likely pathogenic

Autosomal recessive spinocerebellar ataxia 7
Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA145459

rs_398122959

7 SubmittersRCV000074609 RCV001529105 RCV006644501

NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)

SNV
Germline

Chr11:6619387

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA220703

rs_138976576

14 SubmittersRCV000189797 RCV000723684 RCV000674709 RCV001280958 RCV002316221

NM_000391.4(TPP1):c.840G>C (p.Leu280=)

SNV
Germline

Chr11:6616707

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA289080

rs_140349036

11 SubmittersRCV000118657 RCV000343988 RCV000473376 RCV002311556

NM_000391.4(TPP1):c.293C>T (p.Thr98Met)

SNV
Germline

Chr11:6617713

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA231553

rs_140726254

13 SubmittersRCV000118653 RCV000186669 RCV000509378 RCV002313926

NM_000391.4(TPP1):c.1551+1G>A

SNV
Germline

Chr11:6614865

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274113

rs_786204553

5 SubmittersRCV000169269 RCV000524081

NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)

SNV
Germline

Chr11:6615217

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA274465

rs_786204753

5 SubmittersRCV000169608 RCV000189791 RCV002498846

NM_000391.4(TPP1):c.1552-9C>T

SNV
Germline

Chr11:6614695

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
not specified

Criteria Provided
Conflicting Classifications

CA240010

rs_369699167

6 SubmittersRCV000724266 RCV001107389 RCV006688541

NM_000391.4(TPP1):c.244C>T (p.Leu82=)

SNV
Germline

Chr11:6617762

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA245102

rs_794727623

2 SubmittersRCV000178082

NM_000391.4(TPP1):c.542C>T (p.Ser181Phe)

SNV
Germline

Chr11:6617120

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
TPP1-related disorder

Criteria Provided
Conflicting Classifications

CA246564

rs_139059149

8 SubmittersRCV000179300 RCV000724369 RCV002314660 RCV004758666

NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)

SNV
Germline

Chr11:6616374

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA247530

rs_765380155

11 SubmittersRCV000180153 RCV000625040

NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter)

SNV
Germline

Chr11:6614638

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA319218

rs_1554901472

2 SubmittersRCV001385651 RCV001828011

NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe)

SNV
Germline

Chr11:6614874

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319216

rs_748345018

4 SubmittersRCV000189794 RCV001274536 RCV002399705

NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)

SNV
Germline

Chr11:6614891

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319214

rs_149529997

5 SubmittersRCV000189793 RCV000764996 RCV001274537 RCV002390502

NM_000391.4(TPP1):c.1280C>T (p.Thr427Met)

SNV
Germline

Chr11:6615316

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Intellectual disability
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319206

rs_201034755

5 SubmittersRCV000189787 RCV000764997 RCV001252368 RCV002381645

NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)

SNV
Germline

Chr11:6616375

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases
Neuronal ceroid lipofuscinosis
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA319198

rs_750428882

9 SubmittersRCV000189779 RCV001329231 RCV002317664 RCV003401035 RCV005049466

NM_000391.4(TPP1):c.845G>A (p.Ser282Asn)

SNV
Germline

Chr11:6616702

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA319192

rs_796053440

1 SubmittersRCV000189775

NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)

SNV
Germline

Chr11:6616714

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA319191

rs_796053439

6 SubmittersRCV000189774 RCV000209853 RCV003235113

NM_000391.4(TPP1):c.827A>T (p.Asp276Val)

SNV
Germline

Chr11:6616720

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA319189

rs_763162812

8 SubmittersRCV000189773 RCV000666770 RCV002485283

NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)

SNV
Germline

Chr11:6616751

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA319225

rs_200138397

5 SubmittersRCV000384515 RCV000725967

NM_000391.4(TPP1):c.776G>A (p.Arg259His)

SNV
Germline

Chr11:6616771

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319186

rs_140176031

5 SubmittersRCV000189771 RCV000764999 RCV001274539 RCV002317662

NM_000391.4(TPP1):c.638C>T (p.Ser213Leu)

SNV
Germline

Chr11:6617024

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Conflicting Classifications

CA319184

rs_773546205

5 SubmittersRCV000189770 RCV001274540 RCV001578829

NM_000391.4(TPP1):c.509-1G>A

SNV
Germline

Chr11:6617154

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA319175

rs_56144125

9 SubmittersRCV000189764 RCV000586250 RCV000673911 RCV002336504 RCV005049465

NM_000391.4(TPP1):c.425T>G (p.Val142Gly)

SNV
Germline

Chr11:6617384

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA319169

rs_775217501

3 SubmittersRCV000189761 RCV001833128

NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)

SNV
Germline

Chr11:6617627

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Angelman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA319165

rs_756564767

13 SubmittersRCV000189759 RCV000763269 RCV000792396 RCV001004372 RCV001804926

NM_000391.4(TPP1):c.319G>A (p.Gly107Arg)

SNV
Germline

Chr11:6617687

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA319163

rs_201613668

4 SubmittersRCV000189758 RCV000765000 RCV001274542

NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)

SNV
Germline

Chr11:6617695

Pathogenic

Condition: not provided
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA319150

rs_202189057

8 SubmittersRCV000189751 RCV000210549 RCV000984312 RCV002492873 RCV004800327

NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)

SNV
Germline

Chr11:6617746

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319132

rs_148064565

7 SubmittersRCV000189741 RCV000766956 RCV001274545 RCV002314770

NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)

SNV
Germline

Chr11:6618776

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA319162

rs_121908195

7 SubmittersRCV000189757 RCV000673684 RCV001731509

NM_000391.4(TPP1):c.228C>T (p.Tyr76=)

SNV
Germline

Chr11:6618777

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA319130

rs_373318861

2 SubmittersRCV000189740 RCV001852518

NM_000391.4(TPP1):c.197A>T (p.Gln66Leu)

SNV
Germline

Chr11:6618808

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319158

rs_751088292

5 SubmittersRCV000189755 RCV001833127 RCV002415815

NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)

SNV
Germline

Chr11:6618809

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA319156

rs_759080581

5 SubmittersRCV000189754 RCV000824347 RCV006640438

NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)

SNV
Germline

Chr11:6618904

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA319148

rs_138448968

9 SubmittersRCV000189750 RCV000341505 RCV000765001 RCV002362994 RCV005406918

NM_000391.4(TPP1):c.89+5G>C

SNV
Germline

Chr11:6619191

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA319224

rs_746085696

3 SubmittersRCV000189799 RCV003235114

NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)

SNV
Germline

Chr11:6619394

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Conflicting Classifications

CA319144

rs_142163063

7 SubmittersRCV000726300 RCV001274548 RCV002314771 RCV003224212

NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser)

SNV
Germline

Chr11:6615220

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA277862

rs_864309505

2 SubmittersRCV000202601

NM_000391.4(TPP1):c.456G>C (p.Arg152Ser)

SNV
Unknown

Chr11:6617353

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

No Assertion Criteria Provided

CA351534

rs_869025274

1 SubmittersRCV000207147

NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter)

SNV
Germline

Chr11:6617338

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10583994

rs_553522118

3 SubmittersRCV000234824 RCV003137850

NM_000391.4(TPP1):c.509-1G>T

SNV
Germline

Chr11:6617154

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10603269

rs_56144125

4 SubmittersRCV000391641 RCV000666428

NM_000391.4(TPP1):c.687+20C>T

SNV
Germline

Chr11:6616955

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA5858877

rs_569432039

3 SubmittersRCV000280348

NM_000391.4(TPP1):c.1653C>G (p.Pro551=)

SNV
Germline

Chr11:6614585

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided
not specified
TPP1-related disorder

Criteria Provided
Conflicting Classifications

CA5858594

rs_372564255

6 SubmittersRCV000365676 RCV000726663 RCV000444737 RCV004554762

NM_000391.4(TPP1):c.1116C>T (p.His372=)

SNV
Germline

Chr11:6616034

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10635359

rs_751321300

2 SubmittersRCV000354560 RCV002056219

NM_000391.4(TPP1):c.886+7C>T

SNV
Germline

Chr11:6616654

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10639086

rs_886048543

2 SubmittersRCV000289036 RCV001476514

NM_000391.4(TPP1):c.1281G>A (p.Thr427=)

SNV
Germline

Chr11:6615315

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5858679

rs_577520250

4 SubmittersRCV000357888 RCV000867657

NM_000391.4(TPP1):c.1552-1G>A

SNV
Unknown

Chr11:6614687

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

No Assertion Criteria Provided

CA16041509

rs_1057516511

1 SubmittersRCV000409021

NM_000391.4(TPP1):c.1551+1G>C

SNV
Germline

Chr11:6614865

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16041510

rs_786204553

4 SubmittersRCV001038809 RCV005049534 RCV000411444

NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter)

SNV
Germline

Chr11:6615449

Pathogenic

Neuronal ceroid lipofuscinosis 2
Abnormality of the nervous system
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041512

rs_1057516319

4 SubmittersRCV000411513 RCV001814153 RCV005049533 RCV005415567

NM_000391.4(TPP1):c.1145+1G>A

SNV
Germline

Chr11:6616004

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Single Submitter

CA16041513

rs_113019349

2 SubmittersRCV000411197 RCV001378362

NM_000391.4(TPP1):c.687+2T>G

SNV
Germline

Chr11:6616973

Pathogenic

Neuronal ceroid lipofuscinosis 2
Abnormality of the nervous system

Criteria Provided
Single Submitter

CA16041515

rs_1057516945

2 SubmittersRCV000411672 RCV001836808

NM_000391.4(TPP1):c.640C>T (p.Gln214Ter)

SNV
Germline

Chr11:6617022

Pathogenic

Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA5858889

rs_752164603

3 SubmittersRCV000411357 RCV003114527

NM_000391.4(TPP1):c.230-1G>C

SNV
Unknown

Chr11:6617777

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

No Assertion Criteria Provided

CA16041517

rs_1057516667

1 SubmittersRCV000410411

NM_000391.4(TPP1):c.887-18A>G

SNV
Germline

Chr11:6616521

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA16606000

rs_935526225

3 SubmittersRCV000428562 RCV000984313

NM_000391.4(TPP1):c.-3A>G

SNV
Germline

Chr11:6619403

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5859108

rs_762785189

2 SubmittersRCV000439298 RCV002356530

NM_000391.4(TPP1):c.207G>A (p.Ser69=)

SNV
Germline

Chr11:6618798

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA5859031

rs_761070664

2 SubmittersRCV000946272

NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn)

SNV
Germline

Chr11:6616332

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Conflicting Classifications

CA5858785

rs_145966505

6 SubmittersRCV000437106 RCV001375972 RCV002313067 RCV005049548

NM_000391.4(TPP1):c.509-5T>C

SNV
Germline

Chr11:6617158

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
TPP1-related disorder

Criteria Provided
Conflicting Classifications

CA5858907

rs_375548657

5 SubmittersRCV000863964 RCV002524808 RCV004554769

NM_000391.4(TPP1):c.380+3G>A

SNV
Germline

Chr11:6617623

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5858984

rs_781744173

2 SubmittersRCV000422701 RCV002524807

NM_000391.4(TPP1):c.182T>G (p.Leu61Arg)

SNV
Germline

Chr11:6618823

Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16613437

rs_1060502179

2 SubmittersRCV001379112 RCV006452652

NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys)

SNV
Germline

Chr11:6615257

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA217321529

rs_1035033641

3 SubmittersRCV000489192 RCV001829405

NM_000391.4(TPP1):c.1146-1G>A

SNV
Germline

Chr11:6615563

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA379473210

rs_1131691676

3 SubmittersRCV001829413 RCV000494500 RCV003403142

NM_000391.4(TPP1):c.787C>T (p.Gln263Ter)

SNV
Germline

Chr11:6616760

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA379475071

rs_1131691539

3 SubmittersRCV000494434 RCV004800428

NM_000391.4(TPP1):c.83G>A (p.Arg28Gln)

SNV
Germline

Chr11:6619202

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5859069

rs_369126677

5 SubmittersRCV000516351 RCV001274547 RCV001298569 RCV002316473

NM_000391.4(TPP1):c.1551+5G>A

SNV
Germline

Chr11:6614861

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5858620

rs_778756815

3 SubmittersRCV000522147 RCV001829527 RCV002404352

NM_000391.4(TPP1):c.554G>A (p.Arg185His)

SNV
Germline

Chr11:6617108

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5858899

rs_773455971

2 SubmittersRCV000548960 RCV005286114

NM_000391.4(TPP1):c.381-2A>G

SNV
Germline

Chr11:6617430

Likely pathogenic

Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379476090

rs_1554902052

3 SubmittersRCV000589489 RCV000670849 RCV001860125

NM_000391.4(TPP1):c.6A>T (p.Gly2=)

SNV
Germline

Chr11:6619395

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5859105

rs_747594496

3 SubmittersRCV000601158 RCV000728656

NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly)

SNV
Germline

Chr11:6615503

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA379472987

rs_1471156821

3 SubmittersRCV000626244 RCV003884670

NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala)

SNV
Germline

Chr11:6614982

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5858644

rs_756530648

3 SubmittersRCV001829780 RCV001860495

NM_000391.4(TPP1):c.858C>A (p.Asn286Lys)

SNV
Germline

Chr11:6616689

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379474914

rs_1420315178

1 SubmittersRCV001359419

NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)

SNV
Germline

Chr11:6614892

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis
Condition: not provided
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA379472297

rs_1184563885

7 SubmittersRCV000666347 RCV001526988 RCV001386654 RCV002530680

NM_000391.4(TPP1):c.833A>C (p.Gln278Pro)

SNV
Germline

Chr11:6616714

Pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379474984

rs_796053439

3 SubmittersRCV000667845

NM_000391.4(TPP1):c.225A>G (p.Gln75=)

SNV
Germline

Chr11:6618780

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA5859027

rs_368709098

8 SubmittersRCV000668623 RCV001215564 RCV001644760 RCV005049644

NM_000391.4(TPP1):c.1076-1G>A

SNV
Germline

Chr11:6616075

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Single Submitter

CA379473915

rs_1554901731

2 SubmittersRCV000666279 RCV001208874

NM_000391.4(TPP1):c.1076-2A>T

SNV
Germline

Chr11:6616076

Pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379473917

rs_1424116749

4 SubmittersRCV000670860 RCV001379972

NM_000391.4(TPP1):c.1076-2A>G

SNV
Germline

Chr11:6616076

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA379473919

rs_1424116749

4 SubmittersRCV000667649 RCV001379383 RCV003230565

NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)

SNV
Germline

Chr11:6616342

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA379474088

rs_1554901784

7 SubmittersRCV000668234 RCV001058281 RCV003117472 RCV005049642

NM_000391.4(TPP1):c.731T>C (p.Met244Thr)

SNV
Germline

Chr11:6616816

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA379475182

rs_1554901895

4 SubmittersRCV000672940 RCV005091958 RCV006459797

NM_000391.4(TPP1):c.17+1G>A

SNV
Germline

Chr11:6619383

Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Single Submitter

CA379477089

rs_779615685

2 SubmittersRCV000668665 RCV003767965

NM_000391.4(TPP1):c.1551+1G>T

SNV
Germline

Chr11:6614865

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA379472238

rs_786204553

4 SubmittersRCV000674411 RCV003558528 RCV005049652

NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter)

SNV
Germline

Chr11:6617769

Pathogenic

Neuronal ceroid lipofuscinosis

No Assertion Criteria Provided

CA379476605

rs_1564855860

1 SubmittersRCV000678756

NM_000391.4(TPP1):c.1098G>A (p.Trp366Ter)

SNV
Germline

Chr11:6616052

Pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379473815

rs_1564854729

1 SubmittersRCV000680130

NM_000391.4(TPP1):c.122C>T (p.Ala41Val)

SNV
Germline

Chr11:6618883

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5859047

rs_768795654

2 SubmittersRCV001242833 RCV002318204

NM_000391.4(TPP1):c.380+5G>A

SNV
Germline/somatic

Chr11:6617621

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA913190239

rs_1564855725

3 SubmittersRCV000735435 RCV000988484

NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr)

SNV
Germline

Chr11:6615245

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379472663

rs_1589947644

2 SubmittersRCV001369652 RCV001825581

NM_000391.4(TPP1):c.437C>T (p.Thr146Met)

SNV
Germline

Chr11:6617372

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Conflicting Classifications

CA5858952

rs_748686068

5 SubmittersRCV001104755 RCV001869254 RCV002501061

NM_000391.4(TPP1):c.325C>T (p.Gln109Ter)

SNV
Germline

Chr11:6617681

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA379476327

rs_1589948943

3 SubmittersRCV000799250 RCV005049696 RCV006644658

NM_000391.4(TPP1):c.163C>G (p.Gln55Glu)

SNV
Germline

Chr11:6618842

Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA379476772

rs_1315730321

3 SubmittersRCV000797713 RCV001825562 RCV006262348

NM_000391.4(TPP1):c.858C>T (p.Asn286=)

SNV
Germline

Chr11:6616689

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA472922663

rs_1420315178

2 SubmittersRCV000940505 RCV005392568

NM_000391.4(TPP1):c.687+1G>C

SNV
Unknown

Chr11:6616974

Pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

CA379475297

rs_1465284719

1 SubmittersRCV000988483

NM_000391.4(TPP1):c.679T>C (p.Cys227Arg)

SNV
Germline

Chr11:6616983

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA379475319

rs_1855595805

3 SubmittersRCV001070527 RCV005913597

NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)

SNV
Germline

Chr11:6617328

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA5858944

rs_764256845

4 SubmittersRCV001065769 RCV002265936 RCV002497463 RCV006636568

NM_000391.4(TPP1):c.323C>T (p.Ala108Val)

SNV
Germline

Chr11:6617683

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA5858991

rs_374132017

3 SubmittersRCV001068034 RCV001836109

NM_000391.4(TPP1):c.1267-2A>G

SNV
Germline

Chr11:6615331

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379472848

rs_1855562978

1 SubmittersRCV001057360

NM_000391.4(TPP1):c.1439T>G (p.Val480Gly)

SNV
Germline

Chr11:6614978

Conflicting classifications of pathogenicity

Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA379472468

rs_1192702664

3 SubmittersRCV001092692 RCV003128424

NM_000391.4(TPP1):c.65G>T (p.Ser22Ile)

SNV
Germline

Chr11:6619220

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA5859075

rs_202025584

2 SubmittersRCV001092693

NM_000391.4(TPP1):c.993C>T (p.Ser331=)

SNV
Germline

Chr11:6616397

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA472922480

rs_1855585414

2 SubmittersRCV001102829 RCV001433985

NM_000391.4(TPP1):c.1552-14A>C

SNV
Germline

Chr11:6614700

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA217320833

rs_1006965532

2 SubmittersRCV001107390 RCV002067793

NM_000391.4(TPP1):c.1426-1G>A

SNV
Germline

Chr11:6614992

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA217321161

rs_867927501

1 SubmittersRCV001221954

NM_000391.4(TPP1):c.889C>T (p.Arg297Trp)

SNV
Germline

Chr11:6616501

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2
not specified

Criteria Provided
Conflicting Classifications

CA5858809

rs_553122824

4 SubmittersRCV001243103 RCV001836218 RCV006455560

NM_000391.4(TPP1):c.90-2A>T

SNV
Germline

Chr11:6618917

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379476917

rs_1855627953

1 SubmittersRCV001227177

NM_000391.4(TPP1):c.1075+2T>C

SNV
Germline

Chr11:6616313

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA379473972

rs_1855583482

4 SubmittersRCV001239840 RCV001828943 RCV005050306

NM_000391.4(TPP1):c.89+1G>A

SNV
Germline

Chr11:6619195

Pathogenic

Autosomal recessive spinocerebellar ataxia 7

No Assertion Criteria Provided

CA379476929

rs_1855631590

1 SubmittersRCV001252370

NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro)

SNV
Germline

Chr11:6615256

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379472687

rs_119455956

1 SubmittersRCV001290314

NM_000391.4(TPP1):c.688-1G>T

SNV
Germline

Chr11:6616860

Pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379475288

rs_1855593862

1 SubmittersRCV001290315

NM_000391.4(TPP1):c.925A>T (p.Met309Leu)

SNV
Germline

Chr11:6616465

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA217322694

rs_763854371

2 SubmittersRCV001319483 RCV004034973

NM_000391.4(TPP1):c.650G>T (p.Gly217Val)

SNV
Germline

Chr11:6617012

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA217323401

rs_975304153

1 SubmittersRCV001379247

NM_000391.4(TPP1):c.617G>C (p.Arg206Pro)

SNV
Germline

Chr11:6617045

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379475450

rs_121908209

1 SubmittersRCV001379665

NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter)

SNV
Germline

Chr11:6614612

Pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA379472067

rs_2134590423

2 SubmittersRCV001387036 RCV002512153

NM_000391.4(TPP1):c.1218T>A (p.Tyr406Ter)

SNV
Germline

Chr11:6615490

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379472958

rs_747179298

1 SubmittersRCV001386078

NM_000391.4(TPP1):c.509-2A>G

SNV
Germline

Chr11:6617155

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379475658

rs_1855599946

1 SubmittersRCV001390988

NM_000391.4(TPP1):c.1323C>T (p.Tyr441=)

SNV
Germline

Chr11:6615273

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA5858675

rs_757548236

2 SubmittersRCV001408281

NM_000391.4(TPP1):c.891G>T (p.Arg297=)

SNV
Germline

Chr11:6616499

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA5858808

rs_750527536

2 SubmittersRCV001411103

NM_000391.4(TPP1):c.54A>T (p.Lys18Asn)

SNV
Germline

Chr11:6619231

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5859078

rs_753509905

2 SubmittersRCV001438011 RCV002350866

NM_000391.4(TPP1):c.1671G>A (p.Leu557=)

SNV
Germline

Chr11:6614567

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA5858592

rs_777267276

2 SubmittersRCV001490690

NM_000391.4(TPP1):c.824T>G (p.Leu275Arg)

SNV
Germline

Chr11:6616723

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379475000

rs_2134594286

1 SubmittersRCV001532628

NM_000391.4(TPP1):c.1016G>T (p.Arg339Leu)

SNV
Germline

Chr11:6616374

Conflicting classifications of pathogenicity

Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Conflicting Classifications

CA379474153

rs_765380155

2 SubmittersRCV001783896 RCV001823310

NM_000391.4(TPP1):c.182T>C (p.Leu61Pro)

SNV
Germline

Chr11:6618823

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA379476724

rs_1060502179

2 SubmittersRCV002028747 RCV003120801

NM_000391.4(TPP1):c.52A>T (p.Lys18Ter)

SNV
Germline

Chr11:6619233

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379477010

rs_1469902314

1 SubmittersRCV001939828

NM_000391.4(TPP1):c.1425+2T>G

SNV
Germline

Chr11:6615169

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379472502

rs_2134591515

1 SubmittersRCV002017801

NM_000391.4(TPP1):c.1540G>T (p.Gly514Ter)

SNV
Germline

Chr11:6614877

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379472262

rs_2134590841

1 SubmittersRCV001881725

NM_000391.4(TPP1):c.649G>C (p.Gly217Arg)

SNV
Germline

Chr11:6617013

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379475383

rs_1330875156

1 SubmittersRCV002027607

NM_000391.4(TPP1):c.509-6C>G

SNV
Germline

Chr11:6617159

Conflicting classifications of pathogenicity

Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5858908

rs_778046473

2 SubmittersRCV002484587 RCV001926740

NM_000391.4(TPP1):c.1468G>T (p.Glu490Ter)

SNV
Germline

Chr11:6614949

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379472411

rs_1855554832

1 SubmittersRCV001880756

NM_000391.4(TPP1):c.3G>C (p.Met1Ile)

SNV
Germline

Chr11:6619398

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379477121

rs_2134599310

1 SubmittersRCV001966805

NM_000391.4(TPP1):c.472C>T (p.Gln158Ter)

SNV
Germline

Chr11:6617337

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379475763

rs_2134595625

1 SubmittersRCV001949549

NM_000391.4(TPP1):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr11:6616757

Pathogenic

Neuronal ceroid lipofuscinosis
Condition: not provided
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA379475063

rs_1405952769

3 SubmittersRCV002266274 RCV003560903 RCV006644794

NM_000391.4(TPP1):c.130G>T (p.Glu44Ter)

SNV
Germline

Chr11:6618875

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA379476838

rs_2134598107

2 SubmittersRCV002275703

NM_000391.4(TPP1):c.1012C>T (p.Gln338Ter)

SNV
Germline

Chr11:6616378

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379474160

rs_2493798203

1 SubmittersRCV002287302

NM_000391.4(TPP1):c.904G>T (p.Glu302Ter)

SNV
Unknown

Chr11:6616486

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379474658

rs_2493798476

1 SubmittersRCV002309059

NM_000391.4(TPP1):c.638C>A (p.Ser213Ter)

SNV
Unknown

Chr11:6617024

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379475407

rs_773546205

1 SubmittersRCV002310309

NM_000391.4(TPP1):c.767C>A (p.Ser256Ter)

SNV
Unknown

Chr11:6616780

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379475104

rs_2493798930

1 SubmittersRCV002310313

NM_000391.4(TPP1):c.760C>T (p.Gln254Ter)

SNV
Unknown

Chr11:6616787

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379475119

rs_2493798943

1 SubmittersRCV002310324

NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter)

SNV
Unknown

Chr11:6616671

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379474836

rs_1176117951

1 SubmittersRCV002310333

NM_000391.4(TPP1):c.17+2T>A

SNV
Germline

Chr11:6619382

Likely pathogenic

Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379477087

rs_2493803105

2 SubmittersRCV002406305 RCV003097138

NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu)

SNV
Germline

Chr11:6616378

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379474161

rs_2493798203

2 SubmittersRCV002471430 RCV003574977

NM_000391.4(TPP1):c.1613C>A (p.Ser538Tyr)

SNV
Germline

Chr11:6614625

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379472092

rs_755878872

1 SubmittersRCV003062332

NM_000391.4(TPP1):c.646G>A (p.Val216Met)

SNV
Germline

Chr11:6617016

Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA379475390

rs_1344527425

3 SubmittersRCV003069412 RCV003230767 RCV005050723

NM_000391.4(TPP1):c.1145+2T>C

SNV
Germline

Chr11:6616003

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379473625

rs_2493797587

1 SubmittersRCV002791596

NM_000391.4(TPP1):c.702T>G (p.Tyr234Ter)

SNV
Germline

Chr11:6616845

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379475252

rs_2493799058

1 SubmittersRCV002801638

NM_000391.4(TPP1):c.605C>A (p.Pro202His)

SNV
Germline

Chr11:6617057

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379475472

rs_121908205

1 SubmittersRCV002871575

NM_000391.4(TPP1):c.1603G>A (p.Gly535Ser)

SNV
Germline

Chr11:6614635

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379472115

rs_2493795199

1 SubmittersRCV003039592

NM_000391.4(TPP1):c.550C>T (p.Gln184Ter)

SNV
Germline

Chr11:6617112

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379475583

rs_2493799507

1 SubmittersRCV003052135

NM_000391.4(TPP1):c.1425+1G>A

SNV
Germline

Chr11:6615170

Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA379472507

rs_1855559040

2 SubmittersRCV003131758 RCV005051267

NM_000391.4(TPP1):c.230-2A>G

SNV
Germline

Chr11:6617778

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379476628

rs_2493800555

1 SubmittersRCV003226105

NM_000391.4(TPP1):c.1146-199G>A

SNV
Germline

Chr11:6615761

Pathogenic

Neuronal ceroid lipofuscinosis 2

No Assertion Criteria Provided

CA2697548400

rs_2493797341

1 SubmittersRCV003486538

NM_000391.4(TPP1):c.1097G>A (p.Trp366Ter)

SNV
Germline

Chr11:6616053

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379473825

rs_2493797672

1 SubmittersRCV003552362

NM_000391.4(TPP1):c.382C>T (p.Gln128Ter)

SNV
Germline

Chr11:6617427

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379476082

rs_2493800029

1 SubmittersRCV003571752

NM_000391.4(TPP1):c.649G>A (p.Gly217Ser)

SNV
Germline

Chr11:6617013

Likely pathogenic

Condition: not provided
Cervical cancer
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

CA379475384

rs_1330875156

3 SubmittersRCV003679375 RCV005931640 RCV005609025

NM_000391.4(TPP1):c.1266+1G>T

SNV
Germline

Chr11:6615441

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379472853

rs_2493796805

1 SubmittersRCV003721052

NM_000391.4(TPP1):c.1570G>T (p.Glu524Ter)

SNV
Germline

Chr11:6614668

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379472190

rs_1157546558

1 SubmittersRCV003683814

NM_000391.4(TPP1):c.687+2T>A

SNV
Germline

Chr11:6616973

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379475295

rs_1057516945

1 SubmittersRCV003692849

NM_000391.4(TPP1):c.230-1G>A

SNV
Germline

Chr11:6617777

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379476625

rs_1057516667

1 SubmittersRCV003704187

NM_000391.4(TPP1):c.1444G>A (p.Gly482Arg)

SNV
Germline

Chr11:6614973

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379472459

rs_121908208

1 SubmittersRCV003729537

NM_000391.4(TPP1):c.1266+1G>A

SNV
Germline

Chr11:6615441

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379472854

rs_2493796805

1 SubmittersRCV003737622

NM_000391.4(TPP1):c.1117C>T (p.Gln373Ter)

SNV
Germline

Chr11:6616033

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379473740

rs_112812685

1 SubmittersRCV003858523

NM_000391.4(TPP1):c.565C>T (p.Gln189Ter)

SNV
Germline

Chr11:6617097

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA379475552

rs_2493799479

1 SubmittersRCV003884182

NM_000391.4(TPP1):c.1551+5G>C

SNV
Germline

Chr11:6614861

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004698186

NM_000391.4(TPP1):c.916C>T (p.Gln306Ter)

SNV
Germline

Chr11:6616474

Likely pathogenic

Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005051087

NM_000391.4(TPP1):c.1075+2T>G

SNV
Germline

Chr11:6616313

Likely pathogenic

Neuronal ceroid lipofuscinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005088594

NM_000391.4(TPP1):c.1445G>A (p.Gly482Glu)

SNV
Germline

Chr11:6614972

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005107286

NM_000391.4(TPP1):c.349C>T (p.Gln117Ter)

SNV
Germline

Chr11:6617657

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005120790

NM_000391.4(TPP1):c.901C>T (p.Gln301Ter)

SNV
Germline

Chr11:6616489

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005162121

NM_000391.4(TPP1):c.1625G>A (p.Trp542Ter)

SNV
Germline

Chr11:6614613

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005174783

NM_000391.4(TPP1):c.1266+2T>A

SNV
Germline

Chr11:6615440

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005606060

NM_000391.4(TPP1):c.617G>T (p.Arg206Leu)

SNV
Germline

Chr11:6617045

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005631674

NM_000391.4(TPP1):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr11:6619391

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006530883

NM_000391.4(TPP1):c.1204G>A (p.Glu402Lys)

SNV
Germline

Chr11:6615504

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006624020

NM_000391.4(TPP1):c.1421C>T (p.Thr474Ile)

SNV
Germline

Chr11:6615175

Likely pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006645094

NM_000391.4(TPP1):c.509-2A>T

SNV
Germline

Chr11:6617155

Pathogenic

Neuronal ceroid lipofuscinosis 2

Criteria Provided
Single Submitter

1 SubmittersRCV006638415