NM_000391.4(TPP1):c.1069G>A (p.Ala357Thr) |
single nucleotide variant |
not provided [RCV000520590] |
Chr11:6616321 [GRCh38] Chr11:6637552 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.580G>A (p.Val194Ile) |
single nucleotide variant |
not specified [RCV000516918] |
Chr11:6617082 [GRCh38] Chr11:6638313 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.78C>A (p.Asp26Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001829564]|not provided [RCV000551985] |
Chr11:6619207 [GRCh38] Chr11:6640438 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1496C>G (p.Pro499Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001834754]|not provided [RCV000551335] |
Chr11:6614921 [GRCh38] Chr11:6636152 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.866C>A (p.Thr289Asn) |
single nucleotide variant |
not provided [RCV001294501] |
Chr11:6616681 [GRCh38] Chr11:6637912 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) |
single nucleotide variant |
Abnormality of the nervous system [RCV001813939]|Inborn genetic diseases [RCV000210605]|Neuronal ceroid lipofuscinosis 2 [RCV000002762]|Neuronal ceroid lipofuscinosis 2 [RCV000763267]|Neuronal ceroid lipofuscinosis [RCV000230952]|TPP1-related condition [RCV003398423]|not provided [RCV000189769] |
Chr11:6617040 [GRCh38] Chr11:6638271 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.887-10A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000002768]|not provided [RCV000359791] |
Chr11:6616513 [GRCh38] Chr11:6637744 [GRCh37] Chr11:11p15.4 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.579T>C (p.Thr193=) |
single nucleotide variant |
not provided [RCV001450158] |
Chr11:6617083 [GRCh38] Chr11:6638314 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001290314] |
Chr11:6615256 [GRCh38] Chr11:6636487 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1451T>C (p.Ile484Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001834752]|not provided [RCV001366977] |
Chr11:6614966 [GRCh38] Chr11:6636197 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.380+5G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000735435]|Neuronal ceroid lipofuscinosis [RCV000988484] |
Chr11:6617621 [GRCh38] Chr11:6638852 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.554G>A (p.Arg185His) |
single nucleotide variant |
not provided [RCV000548960] |
Chr11:6617108 [GRCh38] Chr11:6638339 [GRCh37] Chr11:11p15.4 |
benign|uncertain significance |
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002525290]|Neuronal ceroid lipofuscinosis 2 [RCV001273172]|Seizure [RCV000678854]|not provided [RCV000993341] |
Chr11:6615289 [GRCh38] Chr11:6636520 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002316473]|Neuronal ceroid lipofuscinosis 2 [RCV001274547]|not provided [RCV001298569]|not specified [RCV000516351] |
Chr11:6619202 [GRCh38] Chr11:6640433 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.626A>G (p.Tyr209Cys) |
single nucleotide variant |
not provided [RCV001361944] |
Chr11:6617036 [GRCh38] Chr11:6638267 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1551+5G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002404352]|Neuronal ceroid lipofuscinosis 2 [RCV001829527]|not provided [RCV000522147] |
Chr11:6614861 [GRCh38] Chr11:6636092 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000002760]|TPP1-related condition [RCV003415631]|not provided [RCV001248011] |
Chr11:6616057 [GRCh38] Chr11:6637288 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000002761]|Neuronal ceroid lipofuscinosis 2 [RCV002496238]|Neuronal ceroid lipofuscinosis [RCV000526403]|not provided [RCV000189781] |
Chr11:6616056 [GRCh38] Chr11:6637287 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
NM_000391.4(TPP1):c.509-1G>C |
single nucleotide variant |
Autosomal recessive spinocerebellar ataxia 7 [RCV000074608]|Inborn genetic diseases [RCV000210689]|Neuronal ceroid lipofuscinosis 2 [RCV000002763]|Neuronal ceroid lipofuscinosis 2 [RCV000763268]|Neuronal ceroid lipofuscinosis [RCV000228119]|not provided [RCV000189765] |
Chr11:6617154 [GRCh38] Chr11:6638385 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000002764]|not provided [RCV000189790] |
Chr11:6615256 [GRCh38] Chr11:6636487 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000002765]|not provided [RCV001382645] |
Chr11:6617046 [GRCh38] Chr11:6638277 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000002766]|Neuronal ceroid lipofuscinosis 2 [RCV000763266]|not provided [RCV000531153] |
Chr11:6616696 [GRCh38] Chr11:6637927 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000002767]|not provided [RCV001851588] |
Chr11:6616690 [GRCh38] Chr11:6637921 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) |
single nucleotide variant |
Autosomal recessive spinocerebellar ataxia 7 [RCV000074609]|not provided [RCV001529105] |
Chr11:6615199 [GRCh38] Chr11:6636430 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 |
copy number gain |
See cases [RCV000053616] |
Chr11:3745061..7846057 [GRCh38] Chr11:3766291..7867604 [GRCh37] Chr11:3722867..7824180 [NCBI36] Chr11:11p15.4 |
pathogenic |
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 |
copy number gain |
See cases [RCV000053613] |
Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13 |
pathogenic |
NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000059616]|not provided [RCV001069102] |
Chr11:6616363 [GRCh38] Chr11:6637594 [GRCh37] Chr11:11p15.4 |
pathogenic|not provided |
NM_000391.4(TPP1):c.1057A>C (p.Thr353Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000059617] |
Chr11:6616333 [GRCh38] Chr11:6637564 [GRCh37] Chr11:11p15.4 |
not provided |
NM_000391.4(TPP1):c.1154T>A (p.Val385Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000059618]|not provided [RCV001854251] |
Chr11:6615554 [GRCh38] Chr11:6636785 [GRCh37] Chr11:11p15.4 |
likely pathogenic|not provided |
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000059619]|not provided [RCV000541263] |
Chr11:6615542 [GRCh38] Chr11:6636773 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|not provided |
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) |
single nucleotide variant |
Autosomal recessive spinocerebellar ataxia 7 [RCV001252369]|Inborn genetic diseases [RCV000210643]|Neuronal ceroid lipofuscinosis 2 [RCV000059620]|Neuronal ceroid lipofuscinosis [RCV000529451]|not provided [RCV000189782] |
Chr11:6615442 [GRCh38] Chr11:6636673 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|not provided |
NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000059621] |
Chr11:6615235 [GRCh38] Chr11:6636466 [GRCh37] Chr11:11p15.4 |
likely pathogenic|not provided |
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000059622]|not provided [RCV001854252] |
Chr11:6615179 [GRCh38] Chr11:6636410 [GRCh37] Chr11:11p15.4 |
pathogenic|not provided |
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000059623]|Neuronal ceroid lipofuscinosis [RCV002307388]|not provided [RCV000800616] |
Chr11:6615172 [GRCh38] Chr11:6636403 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|not provided |
NM_000391.4(TPP1):c.1444G>C (p.Gly482Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000059624] |
Chr11:6614973 [GRCh38] Chr11:6636204 [GRCh37] Chr11:11p15.4 |
not provided |
NM_000391.4(TPP1):c.1630C>T (p.Pro544Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000059625] |
Chr11:6614608 [GRCh38] Chr11:6635839 [GRCh37] Chr11:11p15.4 |
not provided |
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000059626]|Neuronal ceroid lipofuscinosis [RCV001731479]|not provided [RCV001854253] |
Chr11:6618776 [GRCh38] Chr11:6640007 [GRCh37] Chr11:11p15.4 |
pathogenic|not provided |
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002311542]|Neuronal ceroid lipofuscinosis 2 [RCV001104756]|Neuronal ceroid lipofuscinosis 2 [RCV002490667]|Neuronal ceroid lipofuscinosis [RCV000988485]|not provided [RCV000059627]|not specified [RCV000118654] |
Chr11:6617707 [GRCh38] Chr11:6638938 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000059628]|Neuronal ceroid lipofuscinosis [RCV002281905]|not provided [RCV000494361] |
Chr11:6617626 [GRCh38] Chr11:6638857 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000059629]|not provided [RCV001854254] |
Chr11:6617057 [GRCh38] Chr11:6638288 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|not provided |
NM_000391.4(TPP1):c.617G>A (p.Arg206His) |
single nucleotide variant |
Inborn genetic diseases [RCV002354256]|Neuronal ceroid lipofuscinosis 2 [RCV000059630]|Neuronal ceroid lipofuscinosis [RCV000469057]|not provided [RCV001200081] |
Chr11:6617045 [GRCh38] Chr11:6638276 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_000391.4(TPP1):c.829G>A (p.Val277Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000059631]|Neuronal ceroid lipofuscinosis [RCV001778699] |
Chr11:6616718 [GRCh38] Chr11:6637949 [GRCh37] Chr11:11p15.4 |
likely pathogenic|not provided |
NM_000391.4(TPP1):c.860T>A (p.Ile287Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000059632] |
Chr11:6616687 [GRCh38] Chr11:6637918 [GRCh37] Chr11:11p15.4 |
not provided |
NM_000391.4(TPP1):c.733C>T (p.Arg245Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002515801]|Neuronal ceroid lipofuscinosis 2 [RCV001831911]|not provided [RCV000118656] |
Chr11:6616814 [GRCh38] Chr11:6638045 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002316221]|Neuronal ceroid lipofuscinosis 2 [RCV000674709]|Neuronal ceroid lipofuscinosis 2 [RCV001280958]|not provided [RCV000723684]|not specified [RCV000189797] |
Chr11:6619387 [GRCh38] Chr11:6640618 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.840G>C (p.Leu280=) |
single nucleotide variant |
Inborn genetic diseases [RCV002311556]|Neuronal ceroid lipofuscinosis 2 [RCV000343988]|not provided [RCV000473376]|not specified [RCV000118657] |
Chr11:6616707 [GRCh38] Chr11:6637938 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312512]|Neuronal ceroid lipofuscinosis 2 [RCV001102828]|Neuronal ceroid lipofuscinosis 2 [RCV002498539]|not provided [RCV000675457]|not specified [RCV000118649] |
Chr11:6616346 [GRCh38] Chr11:6637577 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000391.4(TPP1):c.1266+5G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002312513]|Neuronal ceroid lipofuscinosis 2 [RCV000267775]|Neuronal ceroid lipofuscinosis 2 [RCV002490815]|not provided [RCV000224226]|not specified [RCV000118650] |
Chr11:6615437 [GRCh38] Chr11:6636668 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312514]|Neuronal ceroid lipofuscinosis 2 [RCV000303128]|not provided [RCV000675453]|not specified [RCV000118651] |
Chr11:6614923 [GRCh38] Chr11:6636154 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) |
single nucleotide variant |
Autosomal recessive spinocerebellar ataxia 7 [RCV001538063]|Inborn genetic diseases [RCV002312515]|Neuronal ceroid lipofuscinosis 2 [RCV000601152]|not provided [RCV000587812]|not specified [RCV000118652] |
Chr11:6614875 [GRCh38] Chr11:6636106 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002313926]|Neuronal ceroid lipofuscinosis 2 [RCV000509378]|not provided [RCV000118653]|not specified [RCV000186669] |
Chr11:6617713 [GRCh38] Chr11:6638944 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
NM_000391.4(TPP1):c.441A>G (p.Glu147=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312516]|Neuronal ceroid lipofuscinosis 2 [RCV000290078]|not provided [RCV000675464]|not specified [RCV000118655] |
Chr11:6617368 [GRCh38] Chr11:6638599 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002312888]|Neuronal ceroid lipofuscinosis 2 [RCV001105890]|Neuronal ceroid lipofuscinosis 2 [RCV002492470]|not provided [RCV000713863]|not specified [RCV000125584] |
Chr11:6618820 [GRCh38] Chr11:6640051 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.513G>T (p.Gly171=) |
single nucleotide variant |
Inborn genetic diseases [RCV002336275]|not provided [RCV000632752]|not specified [RCV000125586] |
Chr11:6617149 [GRCh38] Chr11:6638380 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.688-18C>T |
single nucleotide variant |
not provided [RCV001467906]|not specified [RCV000125587] |
Chr11:6616877 [GRCh38] Chr11:6638108 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002312568]|Neuronal ceroid lipofuscinosis 2 [RCV000625039]|not provided [RCV000713859]|not specified [RCV000125589] |
Chr11:6616033 [GRCh38] Chr11:6637264 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000671745]|not provided [RCV000868268]|not specified [RCV000125590] |
Chr11:6616025 [GRCh38] Chr11:6637256 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002312569]|Neuronal ceroid lipofuscinosis 2 [RCV001108043]|Neuronal ceroid lipofuscinosis 2 [RCV002492471]|not provided [RCV000465600]|not specified [RCV000125591] |
Chr11:6615455 [GRCh38] Chr11:6636686 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000391.4(TPP1):c.1396G>A (p.Val466Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002316376]|Neuronal ceroid lipofuscinosis 2 [RCV001108042]|not provided [RCV000473474]|not specified [RCV000125593] |
Chr11:6615200 [GRCh38] Chr11:6636431 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.1426-10A>G |
single nucleotide variant |
not provided [RCV000557672]|not specified [RCV000125594] |
Chr11:6615001 [GRCh38] Chr11:6636232 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312889]|not provided [RCV000713861]|not specified [RCV000125596] |
Chr11:6614920 [GRCh38] Chr11:6636151 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000391.4(TPP1):c.42C>A (p.Ile14=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312570]|not provided [RCV000457457]|not specified [RCV000125597] |
Chr11:6619243 [GRCh38] Chr11:6640474 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.802C>T (p.Arg268Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001835454]|not provided [RCV001302464] |
Chr11:6616745 [GRCh38] Chr11:6637976 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.688-1G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001290315] |
Chr11:6616860 [GRCh38] Chr11:6638091 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.4G>C (p.Gly2Arg) |
single nucleotide variant |
not provided [RCV001302786] |
Chr11:6619397 [GRCh38] Chr11:6640628 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002316995]|Neuronal ceroid lipofuscinosis 2 [RCV000322901]|Neuronal ceroid lipofuscinosis 2 [RCV001280959]|not provided [RCV000724076] |
Chr11:6615467 [GRCh38] Chr11:6636698 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1552-9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001107389]|not provided [RCV000724266] |
Chr11:6614695 [GRCh38] Chr11:6635926 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 |
copy number gain |
See cases [RCV000133997] |
Chr11:446754..18904742 [GRCh38] Chr11:446754..18926289 [GRCh37] Chr11:436754..18882865 [NCBI36] Chr11:11p15.5-15.1 |
pathogenic |
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000202601] |
Chr11:6615220 [GRCh38] Chr11:6636451 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3 |
copy number gain |
See cases [RCV000136804] |
Chr11:6261582..6637999 [GRCh38] Chr11:6282812..6659230 [GRCh37] Chr11:6239388..6615806 [NCBI36] Chr11:11p15.4 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 |
copy number gain |
See cases [RCV000139987] |
Chr11:61793..10727969 [GRCh38] Chr11:61793..10749516 [GRCh37] Chr11:51793..10706092 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp) |
single nucleotide variant |
Autosomal recessive spinocerebellar ataxia 7 [RCV000211004]|not provided [RCV002509307] |
Chr11:6616361 [GRCh38] Chr11:6637592 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance |
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV000169200] |
Chr11:6616411..6616418 [GRCh38] Chr11:6637642..6637649 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.1551+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000169269]|not provided [RCV000524081] |
Chr11:6614865 [GRCh38] Chr11:6636096 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000169608]|Neuronal ceroid lipofuscinosis 2 [RCV002498846]|not provided [RCV000189791] |
Chr11:6615217 [GRCh38] Chr11:6636448 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.244C>T (p.Leu82=) |
single nucleotide variant |
not provided [RCV000178082] |
Chr11:6617762 [GRCh38] Chr11:6638993 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.381-10dup |
duplication |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000340409]|Neuronal ceroid lipofuscinosis 2 [RCV000678677]|not provided [RCV000675465]|not specified [RCV000178763] |
Chr11:6617437..6617438 [GRCh38] Chr11:6638668..6638669 [GRCh37] Chr11:11p15.4 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
NM_000391.4(TPP1):c.510G>A (p.Val170=) |
single nucleotide variant |
not provided [RCV000179299] |
Chr11:6617152 [GRCh38] Chr11:6638383 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002314660]|not provided [RCV000724369]|not specified [RCV000179300] |
Chr11:6617120 [GRCh38] Chr11:6638351 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.523C>T (p.Arg175Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001275124]|not provided [RCV000724258] |
Chr11:6617139 [GRCh38] Chr11:6638370 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000625040]|not provided [RCV000180153] |
Chr11:6616374 [GRCh38] Chr11:6637605 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.118C>T (p.Arg40Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001275128]|not provided [RCV000724375] |
Chr11:6618887 [GRCh38] Chr11:6640118 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.509-1G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000666428]|not provided [RCV000391641] |
Chr11:6617154 [GRCh38] Chr11:6638385 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.216C>A (p.Ser72Arg) |
single nucleotide variant |
not specified [RCV000189739] |
Chr11:6618789 [GRCh38] Chr11:6640020 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1002C>T (p.Ser334=) |
single nucleotide variant |
not provided [RCV001447893]|not specified [RCV000189744] |
Chr11:6616388 [GRCh38] Chr11:6637619 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.1393A>G (p.Arg465Gly) |
single nucleotide variant |
not specified [RCV000189746] |
Chr11:6615203 [GRCh38] Chr11:6636434 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.128C>G (p.Pro43Arg) |
single nucleotide variant |
not provided [RCV000189752] |
Chr11:6618877 [GRCh38] Chr11:6640108 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.200C>G (p.Ala67Gly) |
single nucleotide variant |
not provided [RCV000189756] |
Chr11:6618805 [GRCh38] Chr11:6640036 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.404G>A (p.Gly135Glu) |
single nucleotide variant |
not provided [RCV000189760] |
Chr11:6617405 [GRCh38] Chr11:6638636 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.497A>T (p.His166Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002514073]|Neuronal ceroid lipofuscinosis 2 [RCV001275125]|not provided [RCV001360553] |
Chr11:6617312 [GRCh38] Chr11:6638543 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.520C>T (p.His174Tyr) |
single nucleotide variant |
not provided [RCV000189766] |
Chr11:6617142 [GRCh38] Chr11:6638373 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000209853]|Neuronal ceroid lipofuscinosis [RCV003235113]|not provided [RCV000189774] |
Chr11:6616714 [GRCh38] Chr11:6637945 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.845G>A (p.Ser282Asn) |
single nucleotide variant |
not provided [RCV000189775] |
Chr11:6616702 [GRCh38] Chr11:6637933 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003352801]|Neuronal ceroid lipofuscinosis 2 [RCV001102831]|not provided [RCV000189777] |
Chr11:6616500 [GRCh38] Chr11:6637731 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1181A>G (p.Gln394Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002517902]|not provided [RCV000189784] |
Chr11:6615527 [GRCh38] Chr11:6636758 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1402A>C (p.Ile468Leu) |
single nucleotide variant |
not provided [RCV000189792] |
Chr11:6615194 [GRCh38] Chr11:6636425 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001828011]|not provided [RCV001385651] |
Chr11:6614638 [GRCh38] Chr11:6635869 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.37C>T (p.Leu13Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001833131]|not provided [RCV000189798] |
Chr11:6619248 [GRCh38] Chr11:6640479 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.228C>T (p.Tyr76=) |
single nucleotide variant |
not provided [RCV001852518]|not specified [RCV000189740] |
Chr11:6618777 [GRCh38] Chr11:6640008 [GRCh37] Chr11:11p15.4 |
benign|uncertain significance |
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002314770]|Neuronal ceroid lipofuscinosis 2 [RCV001274545]|not provided [RCV000766956]|not specified [RCV000189741] |
Chr11:6617746 [GRCh38] Chr11:6638977 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.532C>G (p.Pro178Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003362719]|Neuronal ceroid lipofuscinosis 2 [RCV001833126]|not provided [RCV000189742] |
Chr11:6617130 [GRCh38] Chr11:6638361 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.688-7T>A |
single nucleotide variant |
not provided [RCV000632746]|not specified [RCV000189743] |
Chr11:6616866 [GRCh38] Chr11:6638097 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.1383G>A (p.Val461=) |
single nucleotide variant |
not provided [RCV000861685]|not specified [RCV000189745] |
Chr11:6615213 [GRCh38] Chr11:6636444 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.3(TPP1):c.-40T>C |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000356414]|not specified [RCV000189747] |
Chr11:6619440 [GRCh38] Chr11:6640671 [GRCh37] Chr11:11p15.4 |
benign|uncertain significance |
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002314771]|Neuronal ceroid lipofuscinosis 2 [RCV001274548]|Neuronal ceroid lipofuscinosis 2 [RCV003224212]|not provided [RCV000726300]|not specified [RCV000189748] |
Chr11:6619394 [GRCh38] Chr11:6640625 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001105891]|not provided [RCV000476891] |
Chr11:6619220 [GRCh38] Chr11:6640451 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002362994]|Neuronal ceroid lipofuscinosis 2 [RCV000341505]|Neuronal ceroid lipofuscinosis 2 [RCV000765001]|not provided [RCV000189750] |
Chr11:6618904 [GRCh38] Chr11:6640135 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000210549]|Neuronal ceroid lipofuscinosis 2 [RCV000984312]|Neuronal ceroid lipofuscinosis 2 [RCV002492873]|not provided [RCV000189751] |
Chr11:6617695 [GRCh38] Chr11:6638926 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000305227]|not provided [RCV000189753] |
Chr11:6618867 [GRCh38] Chr11:6640098 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000824347]|not provided [RCV000189754] |
Chr11:6618809 [GRCh38] Chr11:6640040 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002415815]|Neuronal ceroid lipofuscinosis 2 [RCV001833127]|not provided [RCV000189755] |
Chr11:6618808 [GRCh38] Chr11:6640039 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000673684]|Neuronal ceroid lipofuscinosis [RCV001731509]|not provided [RCV000189757] |
Chr11:6618776 [GRCh38] Chr11:6640007 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000765000]|Neuronal ceroid lipofuscinosis 2 [RCV001274542]|not provided [RCV000189758] |
Chr11:6617687 [GRCh38] Chr11:6638918 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) |
single nucleotide variant |
Angelman syndrome [RCV001804926]|Neuronal ceroid lipofuscinosis 2 [RCV000763269]|Neuronal ceroid lipofuscinosis 2 [RCV001004372]|Neuronal ceroid lipofuscinosis [RCV000792396]|not provided [RCV000189759] |
Chr11:6617627 [GRCh38] Chr11:6638858 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.425T>G (p.Val142Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001833128]|not provided [RCV000189761] |
Chr11:6617384 [GRCh38] Chr11:6638615 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.473A>C (p.Gln158Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001104754]|not provided [RCV000189762] |
Chr11:6617336 [GRCh38] Chr11:6638567 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.509-1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002336504]|Neuronal ceroid lipofuscinosis 2 [RCV000673911]|Neuronal ceroid lipofuscinosis [RCV000586250]|not provided [RCV000189764] |
Chr11:6617154 [GRCh38] Chr11:6638385 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.524G>A (p.Arg175His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001275123]|not provided [RCV001070245]|not specified [RCV000189767] |
Chr11:6617138 [GRCh38] Chr11:6638369 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002317661]|Neuronal ceroid lipofuscinosis 2 [RCV001833129]|not provided [RCV000466705]|not specified [RCV000189768] |
Chr11:6617109 [GRCh38] Chr11:6638340 [GRCh37] Chr11:11p15.4 |
benign|likely benign|uncertain significance |
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu) |
single nucleotide variant |
Autosomal recessive spinocerebellar ataxia 7 [RCV001578829]|Neuronal ceroid lipofuscinosis 2 [RCV001274540]|not provided [RCV000189770] |
Chr11:6617024 [GRCh38] Chr11:6638255 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.776G>A (p.Arg259His) |
single nucleotide variant |
Inborn genetic diseases [RCV002317662]|Neuronal ceroid lipofuscinosis 2 [RCV000764999]|Neuronal ceroid lipofuscinosis 2 [RCV001274539]|not provided [RCV000189771] |
Chr11:6616771 [GRCh38] Chr11:6638002 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002317663]|Neuronal ceroid lipofuscinosis 2 [RCV001275122]|not provided [RCV000189772]|not specified [RCV002265676] |
Chr11:6616750 [GRCh38] Chr11:6637981 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000666770]|Neuronal ceroid lipofuscinosis 2 [RCV002485283]|not provided [RCV000189773] |
Chr11:6616720 [GRCh38] Chr11:6637951 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.992C>T (p.Ser331Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001833130]|not provided [RCV000189778] |
Chr11:6616398 [GRCh38] Chr11:6637629 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002317664]|Neuronal ceroid lipofuscinosis 2 [RCV001329231]|Neuronal ceroid lipofuscinosis [RCV003401035]|not provided [RCV000189779] |
Chr11:6616375 [GRCh38] Chr11:6637606 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002514074]|Neuronal ceroid lipofuscinosis 2 [RCV000764998]|Neuronal ceroid lipofuscinosis 2 [RCV001273174]|not provided [RCV000189783] |
Chr11:6616012 [GRCh38] Chr11:6637243 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1217A>G (p.Tyr406Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001273173]|not provided [RCV000189785] |
Chr11:6615491 [GRCh38] Chr11:6636722 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002381645]|Intellectual disability [RCV001252368]|Neuronal ceroid lipofuscinosis 2 [RCV000764997]|not provided [RCV000189787] |
Chr11:6615316 [GRCh38] Chr11:6636547 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.1289T>A (p.Leu430Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002517022]|Neuronal ceroid lipofuscinosis 2 [RCV001828010]|not provided [RCV000189788] |
Chr11:6615307 [GRCh38] Chr11:6636538 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1331C>A (p.Ala444Asp) |
single nucleotide variant |
not provided [RCV000189789] |
Chr11:6615265 [GRCh38] Chr11:6636496 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002390502]|Neuronal ceroid lipofuscinosis 2 [RCV000764996]|Neuronal ceroid lipofuscinosis 2 [RCV001274537]|not provided [RCV000189793] |
Chr11:6614891 [GRCh38] Chr11:6636122 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002399705]|Neuronal ceroid lipofuscinosis 2 [RCV001274536]|not provided [RCV000189794] |
Chr11:6614874 [GRCh38] Chr11:6636105 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001835715]|not provided [RCV000189796] |
Chr11:6614574 [GRCh38] Chr11:6635805 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.89+5G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003235114]|not provided [RCV000189799] |
Chr11:6619191 [GRCh38] Chr11:6640422 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000384515]|not provided [RCV000725967] |
Chr11:6616751 [GRCh38] Chr11:6637982 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.1303C>G (p.His435Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001833132]|not provided [RCV000189801] |
Chr11:6615293 [GRCh38] Chr11:6636524 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1610G>A (p.Cys537Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001828012]|not provided [RCV000189802] |
Chr11:6614628 [GRCh38] Chr11:6635859 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000207147] |
Chr11:6617353 [GRCh38] Chr11:6638584 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.457_490del (p.Ser153fs) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV000234817] |
Chr11:6617319..6617352 [GRCh38] Chr11:6638550..6638583 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000234824]|not provided [RCV003137850] |
Chr11:6617338 [GRCh38] Chr11:6638569 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000669857]|not specified [RCV001844216] |
Chr11:6617352 [GRCh38] Chr11:6638583 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.4(chr11:6639647-6641899)x1 |
copy number loss |
See cases [RCV000240026] |
Chr11:6639647..6641899 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.6A>T (p.Gly2=) |
single nucleotide variant |
not provided [RCV000728656]|not specified [RCV000601158] |
Chr11:6619395 [GRCh38] Chr11:6640626 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.*44T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000306279] |
Chr11:6614502 [GRCh38] Chr11:6635733 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1116C>T (p.His372=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000354560]|not provided [RCV002056219] |
Chr11:6616034 [GRCh38] Chr11:6637265 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.*1588C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000273317] |
Chr11:6612958 [GRCh38] Chr11:6634189 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.*71G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000404663] |
Chr11:6614475 [GRCh38] Chr11:6635706 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.*1428T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000359276] |
Chr11:6613118 [GRCh38] Chr11:6634349 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*314del |
deletion |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000295924] |
Chr11:6614232 [GRCh38] Chr11:6635463 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000259663]|Neuronal ceroid lipofuscinosis 2 [RCV002502207]|not provided [RCV000632726]|not specified [RCV002222484] |
Chr11:6616357 [GRCh38] Chr11:6637588 [GRCh37] Chr11:11p15.4 |
benign|likely benign|uncertain significance |
NM_000391.3(TPP1):c.-33C>G |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000296861]|not specified [RCV000428971] |
Chr11:6619433 [GRCh38] Chr11:6640664 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.*986C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000281304] |
Chr11:6613560 [GRCh38] Chr11:6634791 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.*1118G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000316562] |
Chr11:6613428 [GRCh38] Chr11:6634659 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000365676]|not provided [RCV000726663]|not specified [RCV000444737] |
Chr11:6614585 [GRCh38] Chr11:6635816 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.665A>G (p.Asn222Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001828243]|not provided [RCV000270685] |
Chr11:6616997 [GRCh38] Chr11:6638228 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.887-10_887-6del |
deletion |
not specified [RCV000302045] |
Chr11:6616509..6616513 [GRCh38] Chr11:6637740..6637744 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.*1216dup |
duplication |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000280199]|not provided [RCV003401299] |
Chr11:6613329..6613330 [GRCh38] Chr11:6634560..6634561 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.-21G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000395682] |
Chr11:6619421 [GRCh38] Chr11:6640652 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*785T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000349629] |
Chr11:6613761 [GRCh38] Chr11:6634992 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.687+20C>T |
single nucleotide variant |
not provided [RCV000280348] |
Chr11:6616955 [GRCh38] Chr11:6638186 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.887-6del |
deletion |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000273949]|Neuronal ceroid lipofuscinosis 2 [RCV001835777]|not provided [RCV000675461]|not specified [RCV001702419] |
Chr11:6616509 [GRCh38] Chr11:6637740 [GRCh37] Chr11:11p15.4 |
benign|likely benign|uncertain significance |
NM_000391.4(TPP1):c.*1570C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000328365] |
Chr11:6612976 [GRCh38] Chr11:6634207 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*312T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000350783] |
Chr11:6614234 [GRCh38] Chr11:6635465 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1558C>A (p.Arg520Ser) |
single nucleotide variant |
not provided [RCV000281403] |
Chr11:6614680 [GRCh38] Chr11:6635911 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*1412T>G |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000264580] |
Chr11:6613134 [GRCh38] Chr11:6634365 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.887-7_887-6del |
deletion |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000333752]|Neuronal ceroid lipofuscinosis 2 [RCV001273176]|not provided [RCV000675458] |
Chr11:6616509..6616510 [GRCh38] Chr11:6637740..6637741 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.1281G>A (p.Thr427=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000357888]|not provided [RCV000867657] |
Chr11:6615315 [GRCh38] Chr11:6636546 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.938_939del (p.Asn313fs) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV000411972]|not provided [RCV000379065] |
Chr11:6616451..6616452 [GRCh38] Chr11:6637682..6637683 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.*1628G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000363243] |
Chr11:6612918 [GRCh38] Chr11:6634149 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.381-2A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000670849]|Neuronal ceroid lipofuscinosis [RCV000589489]|not provided [RCV001860125] |
Chr11:6617430 [GRCh38] Chr11:6638661 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1090G>A (p.Gly364Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001278538]|not provided [RCV001346565] |
Chr11:6616060 [GRCh38] Chr11:6637291 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001829405]|not provided [RCV000489192] |
Chr11:6615257 [GRCh38] Chr11:6636488 [GRCh37] Chr11:11p15.4 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002311808]|Neuronal ceroid lipofuscinosis 2 [RCV001102830]|not provided [RCV000489363] |
Chr11:6616443 [GRCh38] Chr11:6637674 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1045G>A (p.Ala349Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001829400]|not provided [RCV000489694] |
Chr11:6616345 [GRCh38] Chr11:6637576 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.514G>A (p.Gly172Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001278541] |
Chr11:6617148 [GRCh38] Chr11:6638379 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.35C>T (p.Ala12Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001278545] |
Chr11:6619250 [GRCh38] Chr11:6640481 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.18-5T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001278546] |
Chr11:6619272 [GRCh38] Chr11:6640503 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.887-5del |
deletion |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000319602] |
Chr11:6616508 [GRCh38] Chr11:6637739 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*668C>A |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000405420] |
Chr11:6613878 [GRCh38] Chr11:6635109 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*1634T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000308532] |
Chr11:6612912 [GRCh38] Chr11:6634143 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*1774G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000371192] |
Chr11:6612772 [GRCh38] Chr11:6634003 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*1311C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000324411] |
Chr11:6613235 [GRCh38] Chr11:6634466 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.887-6_887-5del |
deletion |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000374250]|not provided [RCV002520737] |
Chr11:6616508..6616509 [GRCh38] Chr11:6637739..6637740 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.*1000T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000375789] |
Chr11:6613546 [GRCh38] Chr11:6634777 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.886+7C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000289036]|not provided [RCV001476514] |
Chr11:6616654 [GRCh38] Chr11:6637885 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.*1302A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000379045] |
Chr11:6613244 [GRCh38] Chr11:6634475 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*1715T>C |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000397968] |
Chr11:6612831 [GRCh38] Chr11:6634062 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1076-18A>G |
single nucleotide variant |
not provided [RCV000589362] |
Chr11:6616092 [GRCh38] Chr11:6637323 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.213C>T (p.Pro71=) |
single nucleotide variant |
Inborn genetic diseases [RCV002431768]|not provided [RCV000868155]|not specified [RCV000602910] |
Chr11:6618792 [GRCh38] Chr11:6640023 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1089C>T (p.Ala363=) |
single nucleotide variant |
not provided [RCV000632747] |
Chr11:6616061 [GRCh38] Chr11:6637292 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1495C>G (p.Pro499Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001834908]|not provided [RCV000598289] |
Chr11:6614922 [GRCh38] Chr11:6636153 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.609dup (p.Val204fs) |
duplication |
Neuronal ceroid lipofuscinosis 2 [RCV000409411]|not provided [RCV002524617] |
Chr11:6617052..6617053 [GRCh38] Chr11:6638283..6638284 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) |
duplication |
Neuronal ceroid lipofuscinosis 2 [RCV000410133]|not provided [RCV001390448] |
Chr11:6614967..6614968 [GRCh38] Chr11:6636198..6636199 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.1661dup (p.Ala555fs) |
duplication |
Neuronal ceroid lipofuscinosis 2 [RCV000410236] |
Chr11:6614576..6614577 [GRCh38] Chr11:6635807..6635808 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.230-1G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000410411] |
Chr11:6617777 [GRCh38] Chr11:6639008 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.819del (p.Ser274fs) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV000410935] |
Chr11:6616728 [GRCh38] Chr11:6637959 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1145+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000411197]|not provided [RCV001378362] |
Chr11:6616004 [GRCh38] Chr11:6637235 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000411357]|Neuronal ceroid lipofuscinosis [RCV003114527] |
Chr11:6617022 [GRCh38] Chr11:6638253 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1551+1G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000411444]|not provided [RCV001038809] |
Chr11:6614865 [GRCh38] Chr11:6636096 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|uncertain significance |
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter) |
single nucleotide variant |
Abnormality of the nervous system [RCV001814153]|Neuronal ceroid lipofuscinosis 2 [RCV000411513] |
Chr11:6615449 [GRCh38] Chr11:6636680 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.1266+8T>C |
single nucleotide variant |
not provided [RCV000555542] |
Chr11:6615434 [GRCh38] Chr11:6636665 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.687+2T>G |
single nucleotide variant |
Abnormality of the nervous system [RCV001836808]|Neuronal ceroid lipofuscinosis 2 [RCV000411672] |
Chr11:6616973 [GRCh38] Chr11:6638204 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.1426-10A>T |
single nucleotide variant |
not provided [RCV000536136] |
Chr11:6615001 [GRCh38] Chr11:6636232 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1552-1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000409021] |
Chr11:6614687 [GRCh38] Chr11:6635918 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 |
copy number gain |
See cases [RCV000449417] |
Chr11:230615..6644927 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_000391.4(TPP1):c.207G>A (p.Ser69=) |
single nucleotide variant |
not provided [RCV000946272] |
Chr11:6618798 [GRCh38] Chr11:6640029 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.139C>T (p.Leu47=) |
single nucleotide variant |
not provided [RCV002059860]|not specified [RCV000434219] |
Chr11:6618866 [GRCh38] Chr11:6640097 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.-12C>T |
single nucleotide variant |
not specified [RCV000417714] |
Chr11:6619412 [GRCh38] Chr11:6640643 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.828T>C (p.Asp276=) |
single nucleotide variant |
not provided [RCV001440653]|not specified [RCV000418018] |
Chr11:6616719 [GRCh38] Chr11:6637950 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.645C>T (p.Asp215=) |
single nucleotide variant |
not provided [RCV001405480]|not specified [RCV000438298] |
Chr11:6617017 [GRCh38] Chr11:6638248 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.123G>A (p.Ala41=) |
single nucleotide variant |
not provided [RCV001703506] |
Chr11:6618882 [GRCh38] Chr11:6640113 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.1515A>G (p.Pro505=) |
single nucleotide variant |
not specified [RCV000424769] |
Chr11:6614902 [GRCh38] Chr11:6636133 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1362A>G (p.Ala454=) |
single nucleotide variant |
not provided [RCV001398514]|not specified [RCV000428301] |
Chr11:6615234 [GRCh38] Chr11:6636465 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1146-18G>A |
single nucleotide variant |
not specified [RCV000428708] |
Chr11:6615580 [GRCh38] Chr11:6636811 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.69G>A (p.Pro23=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318400]|not provided [RCV000541669] |
Chr11:6619216 [GRCh38] Chr11:6640447 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.-3A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002356530]|not specified [RCV000439298] |
Chr11:6619403 [GRCh38] Chr11:6640634 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.-20C>G |
single nucleotide variant |
not specified [RCV000425524] |
Chr11:6619420 [GRCh38] Chr11:6640651 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.18-10G>T |
single nucleotide variant |
not provided [RCV000713862] |
Chr11:6619277 [GRCh38] Chr11:6640508 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.887-18A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000984313]|not provided [RCV000428562] |
Chr11:6616521 [GRCh38] Chr11:6637752 [GRCh37] Chr11:11p15.4 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.75C>T (p.Pro25=) |
single nucleotide variant |
not provided [RCV001434898]|not specified [RCV000422500] |
Chr11:6619210 [GRCh38] Chr11:6640441 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.230-19C>T |
single nucleotide variant |
not specified [RCV000443708] |
Chr11:6617795 [GRCh38] Chr11:6639026 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.380+3G>A |
single nucleotide variant |
not provided [RCV002524807]|not specified [RCV000422701] |
Chr11:6617623 [GRCh38] Chr11:6638854 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.318C>T (p.Ala106=) |
single nucleotide variant |
Inborn genetic diseases [RCV002323593]|not provided [RCV000632696]|not specified [RCV000440393] |
Chr11:6617688 [GRCh38] Chr11:6638919 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.509-5T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002524808]|not provided [RCV000863964] |
Chr11:6617158 [GRCh38] Chr11:6638389 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002313067]|Neuronal ceroid lipofuscinosis 2 [RCV001375972]|not provided [RCV000437106] |
Chr11:6616332 [GRCh38] Chr11:6637563 [GRCh37] Chr11:11p15.4 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.435T>C (p.Pro145=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002488889]|not provided [RCV001480945]|not specified [RCV000433843] |
Chr11:6617374 [GRCh38] Chr11:6638605 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.420C>T (p.His140=) |
single nucleotide variant |
not provided [RCV002065043]|not specified [RCV000444509] |
Chr11:6617389 [GRCh38] Chr11:6638620 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1086G>A (p.Gly362=) |
single nucleotide variant |
Inborn genetic diseases [RCV002311449]|not provided [RCV000866538]|not specified [RCV000434108] |
Chr11:6616064 [GRCh38] Chr11:6637295 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1466A>G (p.Asn489Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001833580]|not provided [RCV000464531] |
Chr11:6614951 [GRCh38] Chr11:6636182 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.182T>G (p.Leu61Arg) |
single nucleotide variant |
not provided [RCV001379112] |
Chr11:6618823 [GRCh38] Chr11:6640054 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.688-4A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002374852]|not provided [RCV000470536]|not specified [RCV000601663] |
Chr11:6616863 [GRCh38] Chr11:6638094 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002313167]|Neuronal ceroid lipofuscinosis 2 [RCV001108044]|not provided [RCV001298323] |
Chr11:6615516 [GRCh38] Chr11:6636747 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.274del (p.Ser92fs) |
deletion |
not provided [RCV000480719] |
Chr11:6617732 [GRCh38] Chr11:6638963 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.511G>C (p.Gly171Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001278542]|not provided [RCV000484558] |
Chr11:6617151 [GRCh38] Chr11:6638382 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1116C>G (p.His372Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001833610]|not provided [RCV000481665] |
Chr11:6616034 [GRCh38] Chr11:6637265 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.206C>G (p.Ser69Trp) |
single nucleotide variant |
not provided [RCV000481891] |
Chr11:6618799 [GRCh38] Chr11:6640030 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.500_503dup (p.Phe169fs) |
duplication |
not provided [RCV000478948] |
Chr11:6617305..6617306 [GRCh38] Chr11:6638536..6638537 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1496C>T (p.Pro499Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001273170]|not provided [RCV001856803] |
Chr11:6614921 [GRCh38] Chr11:6636152 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.297G>A (p.Val99=) |
single nucleotide variant |
not provided [RCV001467938] |
Chr11:6617709 [GRCh38] Chr11:6638940 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.9:g.6638385G>C |
single nucleotide variant |
Ceroid lipofuscinosis neuronal 2 [RCV000509343] |
Chr11:6638385 [GRCh37] Chr11:11p15.4 |
not provided |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 |
copy number gain |
See cases [RCV000511561] |
Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12 |
pathogenic |
NM_000391.4(TPP1):c.787C>T (p.Gln263Ter) |
single nucleotide variant |
not provided [RCV000494434] |
Chr11:6616760 [GRCh38] Chr11:6637991 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1146-1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001829413]|Neuronal ceroid lipofuscinosis [RCV003403142]|not provided [RCV000494500] |
Chr11:6615563 [GRCh38] Chr11:6636794 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup) |
duplication |
Neuronal ceroid lipofuscinosis 2 [RCV000578444] |
Chr11:6615251..6615252 [GRCh38] Chr11:6636482..6636483 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_000391.4(TPP1):c.665A>C (p.Asn222Thr) |
single nucleotide variant |
not provided [RCV001371426] |
Chr11:6616997 [GRCh38] Chr11:6638228 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1009A>C (p.Ile337Leu) |
single nucleotide variant |
not provided [RCV001364830] |
Chr11:6616381 [GRCh38] Chr11:6637612 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001273171]|Neuronal ceroid lipofuscinosis 2 [RCV002497073]|not provided [RCV000713860] |
Chr11:6614927 [GRCh38] Chr11:6636158 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.959T>G (p.Val320Gly) |
single nucleotide variant |
Seizure [RCV001281468]|not provided [RCV000632719]|not specified [RCV003235318] |
Chr11:6616431 [GRCh38] Chr11:6637662 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.381-4C>G |
single nucleotide variant |
not provided [RCV000632765] |
Chr11:6617432 [GRCh38] Chr11:6638663 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.219T>C (p.Ser73=) |
single nucleotide variant |
not provided [RCV000632766] |
Chr11:6618786 [GRCh38] Chr11:6640017 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.127C>G (p.Pro43Ala) |
single nucleotide variant |
not provided [RCV000632686] |
Chr11:6618878 [GRCh38] Chr11:6640109 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.808G>A (p.Gly270Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001829779]|not provided [RCV002528858] |
Chr11:6616739 [GRCh38] Chr11:6637970 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001829780]|not provided [RCV001860495] |
Chr11:6614982 [GRCh38] Chr11:6636213 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.858C>A (p.Asn286Lys) |
single nucleotide variant |
not provided [RCV001359419] |
Chr11:6616689 [GRCh38] Chr11:6637920 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance |
NM_000391.4(TPP1):c.1593A>G (p.Val531=) |
single nucleotide variant |
not provided [RCV001490959] |
Chr11:6614645 [GRCh38] Chr11:6635876 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.669C>T (p.Asn223=) |
single nucleotide variant |
not provided [RCV000632773] |
Chr11:6616993 [GRCh38] Chr11:6638224 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.229+8T>C |
single nucleotide variant |
not provided [RCV000632762] |
Chr11:6618768 [GRCh38] Chr11:6639999 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.544C>T (p.Leu182=) |
single nucleotide variant |
not provided [RCV001391778] |
Chr11:6617118 [GRCh38] Chr11:6638349 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1049G>A (p.Arg350Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001273175]|not provided [RCV000594927] |
Chr11:6616341 [GRCh38] Chr11:6637572 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV000672326] |
Chr11:6616343..6616348 [GRCh38] Chr11:6637574..6637579 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1497del (p.Gly501fs) |
deletion |
Inborn genetic diseases [RCV000624559]|not provided [RCV001860456] |
Chr11:6614920 [GRCh38] Chr11:6636151 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.960G>C (p.Val320=) |
single nucleotide variant |
not specified [RCV000615574] |
Chr11:6616430 [GRCh38] Chr11:6637661 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.741C>T (p.Phe247=) |
single nucleotide variant |
not provided [RCV000865677]|not specified [RCV000616000] |
Chr11:6616806 [GRCh38] Chr11:6638037 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1328A>G (p.Asn443Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002527680]|Neuronal ceroid lipofuscinosis 2 [RCV001834751]|not provided [RCV001566516] |
Chr11:6615268 [GRCh38] Chr11:6636499 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1470G>A (p.Glu490=) |
single nucleotide variant |
not provided [RCV001405549]|not specified [RCV000616189] |
Chr11:6614947 [GRCh38] Chr11:6636178 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1377C>T (p.Tyr459=) |
single nucleotide variant |
not specified [RCV000613206] |
Chr11:6615219 [GRCh38] Chr11:6636450 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1076-7C>T |
single nucleotide variant |
not provided [RCV001486746]|not specified [RCV000608232] |
Chr11:6616081 [GRCh38] Chr11:6637312 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.330G>A (p.Lys110=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001275126]|not provided [RCV000866927] |
Chr11:6617676 [GRCh38] Chr11:6638907 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1407A>T (p.Pro469=) |
single nucleotide variant |
not specified [RCV000611330] |
Chr11:6615189 [GRCh38] Chr11:6636420 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1569T>C (p.His523=) |
single nucleotide variant |
not provided [RCV001411292] |
Chr11:6614669 [GRCh38] Chr11:6635900 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1489C>T (p.Arg497Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001834753]|not provided [RCV000558562] |
Chr11:6614928 [GRCh38] Chr11:6636159 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.-22A>C |
single nucleotide variant |
not specified [RCV000604974] |
Chr11:6619422 [GRCh38] Chr11:6640653 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.3(TPP1):c.-33C>T |
single nucleotide variant |
not specified [RCV000604530] |
Chr11:6619433 [GRCh38] Chr11:6640664 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.687+6C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001835010]|not provided [RCV001868170] |
Chr11:6616969 [GRCh38] Chr11:6638200 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1134C>G (p.Phe378Leu) |
single nucleotide variant |
not provided [RCV001338190] |
Chr11:6616016 [GRCh38] Chr11:6637247 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000626244] |
Chr11:6615503 [GRCh38] Chr11:6636734 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance |
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 |
copy number gain |
See cases [RCV000512225] |
Chr11:230615..25584362 [GRCh37] Chr11:11p15.5-14.3 |
pathogenic |
NM_000391.4(TPP1):c.1593dup (p.Glu532fs) |
duplication |
Neuronal ceroid lipofuscinosis 2 [RCV001835059]|not provided [RCV000656241] |
Chr11:6614644..6614645 [GRCh38] Chr11:6635875..6635876 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 |
copy number gain |
See cases [RCV000512477] |
Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000672851] |
Chr11:6614596 [GRCh38] Chr11:6635827 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.731T>C (p.Met244Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000672940] |
Chr11:6616816 [GRCh38] Chr11:6638047 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.887-8_887-6del |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV001829887]|not provided [RCV000675459]|not specified [RCV001703231] |
Chr11:6616509..6616511 [GRCh38] Chr11:6637740..6637742 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.887-9_887-6del |
deletion |
not provided [RCV000675460] |
Chr11:6616509..6616512 [GRCh38] Chr11:6637740..6637743 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.1449del (p.Ile484fs) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV000673108] |
Chr11:6614968 [GRCh38] Chr11:6636199 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.772G>T (p.Ala258Ser) |
single nucleotide variant |
not provided [RCV000685138] |
Chr11:6616775 [GRCh38] Chr11:6638006 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1267-56_1267-37del |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV000671649] |
Chr11:6615366..6615385 [GRCh38] Chr11:6636597..6636616 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.225A>G (p.Gln75=) |
single nucleotide variant |
Autosomal recessive spinocerebellar ataxia 7 [RCV001644760]|Neuronal ceroid lipofuscinosis 2 [RCV000668623]|not provided [RCV001215564] |
Chr11:6618780 [GRCh38] Chr11:6640011 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.17+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000668665] |
Chr11:6619383 [GRCh38] Chr11:6640614 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV000668676]|not provided [RCV001388426] |
Chr11:6614869..6614870 [GRCh38] Chr11:6636100..6636101 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance |
NM_000391.4(TPP1):c.1098G>A (p.Trp366Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000680130] |
Chr11:6616052 [GRCh38] Chr11:6637283 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV000673142] |
Chr11:6615203..6615204 [GRCh38] Chr11:6636434..6636435 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.689del (p.Phe230fs) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV000677174] |
Chr11:6616858 [GRCh38] Chr11:6638089 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.184del (p.Ser62fs) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV000677192] |
Chr11:6618821 [GRCh38] Chr11:6640052 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) |
microsatellite |
Neuronal ceroid lipofuscinosis 2 [RCV000667218]|Neuronal ceroid lipofuscinosis [RCV000988486] |
Chr11:6618820..6618821 [GRCh38] Chr11:6640050..6640052 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.1076-2A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000670860]|not provided [RCV001379972] |
Chr11:6616076 [GRCh38] Chr11:6637307 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.357dup (p.Leu120fs) |
duplication |
Neuronal ceroid lipofuscinosis 2 [RCV000670223]|Neuronal ceroid lipofuscinosis 2 [RCV002493105]|not provided [RCV001385878] |
Chr11:6617648..6617649 [GRCh38] Chr11:6638879..6638880 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.1208T>C (p.Ile403Thr) |
single nucleotide variant |
not provided [RCV000703789] |
Chr11:6615500 [GRCh38] Chr11:6636731 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1076-2A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000667649]|Neuronal ceroid lipofuscinosis [RCV003230565]|not provided [RCV001379383] |
Chr11:6616076 [GRCh38] Chr11:6637307 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000667845] |
Chr11:6616714 [GRCh38] Chr11:6637945 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1266+28G>A |
single nucleotide variant |
not provided [RCV000675454] |
Chr11:6615414 [GRCh38] Chr11:6636645 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.509-25C>T |
single nucleotide variant |
not provided [RCV000675462] |
Chr11:6617178 [GRCh38] Chr11:6638409 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.1076-1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000666279]|not provided [RCV001208874] |
Chr11:6616075 [GRCh38] Chr11:6637306 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV000668227] |
Chr11:6614617..6614627 [GRCh38] Chr11:6635848..6635858 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000668234]|Neuronal ceroid lipofuscinosis [RCV003117472]|not provided [RCV001058281] |
Chr11:6616342 [GRCh38] Chr11:6637573 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.508+2dup |
duplication |
Neuronal ceroid lipofuscinosis 2 [RCV000668261] |
Chr11:6617298..6617299 [GRCh38] Chr11:6638529..6638530 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.422dup (p.Tyr141Ter) |
duplication |
Neuronal ceroid lipofuscinosis 2 [RCV000665414] |
Chr11:6617386..6617387 [GRCh38] Chr11:6638617..6638618 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1551+1G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000674411] |
Chr11:6614865 [GRCh38] Chr11:6636096 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) |
single nucleotide variant |
Autosomal recessive spinocerebellar ataxia 7 [RCV002530680]|Neuronal ceroid lipofuscinosis 2 [RCV000666347]|Neuronal ceroid lipofuscinosis [RCV001526988]|not provided [RCV001386654] |
Chr11:6614892 [GRCh38] Chr11:6636123 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.1146-24C>A |
single nucleotide variant |
not provided [RCV000675455] |
Chr11:6615586 [GRCh38] Chr11:6636817 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.1075+28T>C |
single nucleotide variant |
Autosomal recessive spinocerebellar ataxia 7 [RCV001538069]|Neuronal ceroid lipofuscinosis 2 [RCV001538068]|not provided [RCV000675456] |
Chr11:6616287 [GRCh38] Chr11:6637518 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.508+26T>A |
single nucleotide variant |
Autosomal recessive spinocerebellar ataxia 7 [RCV001538073]|Neuronal ceroid lipofuscinosis 2 [RCV001538072]|not provided [RCV000675463] |
Chr11:6617275 [GRCh38] Chr11:6638506 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV000665954] |
Chr11:6615228..6615229 [GRCh38] Chr11:6636459..6636460 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000678756] |
Chr11:6617769 [GRCh38] Chr11:6639000 [GRCh37] Chr11:11p15.4 |
pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 |
copy number gain |
not provided [RCV000683369] |
Chr11:230615..9704511 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 |
copy number gain |
not provided [RCV000683372] |
Chr11:230615..17099213 [GRCh37] Chr11:11p15.5-15.1 |
pathogenic |
NM_000391.4(TPP1):c.1613C>G (p.Ser538Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001830489]|not provided [RCV001367894] |
Chr11:6614625 [GRCh38] Chr11:6635856 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1123C>T (p.Arg375Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001830541]|not provided [RCV000699528] |
Chr11:6616027 [GRCh38] Chr11:6637258 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000709849]|not provided [RCV001313824] |
Chr11:6616488 [GRCh38] Chr11:6637719 [GRCh37] Chr11:11p15.4 |
uncertain significance|not provided |
NM_000391.4(TPP1):c.775C>T (p.Arg259Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002406589]|Neuronal ceroid lipofuscinosis 2 [RCV001830522]|not provided [RCV001662760] |
Chr11:6616772 [GRCh38] Chr11:6638003 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002315999]|Neuronal ceroid lipofuscinosis 2 [RCV001274538]|not provided [RCV000731066] |
Chr11:6615456 [GRCh38] Chr11:6636687 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.734G>A (p.Arg245His) |
single nucleotide variant |
Inborn genetic diseases [RCV002547134]|Neuronal ceroid lipofuscinosis 2 [RCV001104753]|not provided [RCV000688974] |
Chr11:6616813 [GRCh38] Chr11:6638044 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.812T>C (p.Ile271Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001835918]|not provided [RCV000691253] |
Chr11:6616735 [GRCh38] Chr11:6637966 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1512C>T (p.Asn504=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313560] |
Chr11:6614905 [GRCh38] Chr11:6636136 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.816G>A (p.Glu272=) |
single nucleotide variant |
Inborn genetic diseases [RCV002315386]|not provided [RCV001410199] |
Chr11:6616731 [GRCh38] Chr11:6637962 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.465T>C (p.His155=) |
single nucleotide variant |
Inborn genetic diseases [RCV002315415]|not provided [RCV001486062] |
Chr11:6617344 [GRCh38] Chr11:6638575 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.1300C>T (p.Pro434Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002318248]|Neuronal ceroid lipofuscinosis 2 [RCV001830594]|not provided [RCV001532627] |
Chr11:6615296 [GRCh38] Chr11:6636527 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.122C>T (p.Ala41Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002318204]|not provided [RCV001242833] |
Chr11:6618883 [GRCh38] Chr11:6640114 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.284C>G (p.Thr95Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002318339]|Neuronal ceroid lipofuscinosis 2 [RCV001274544]|not provided [RCV002534985] |
Chr11:6617722 [GRCh38] Chr11:6638953 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV000758017] |
Chr11:6616070 [GRCh38] Chr11:6637301 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_000391.4(TPP1):c.1076-66T>A |
single nucleotide variant |
not provided [RCV001540699] |
Chr11:6616140 [GRCh38] Chr11:6637371 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1407A>G (p.Pro469=) |
single nucleotide variant |
not provided [RCV001610944] |
Chr11:6615189 [GRCh38] Chr11:6636420 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002497463]|Neuronal ceroid lipofuscinosis [RCV002265936]|not provided [RCV001065769] |
Chr11:6617328 [GRCh38] Chr11:6638559 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.124G>T (p.Asp42Tyr) |
single nucleotide variant |
not provided [RCV001067248] |
Chr11:6618881 [GRCh38] Chr11:6640112 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.885T>C (p.Pro295=) |
single nucleotide variant |
not provided [RCV001862796] |
Chr11:6616662 [GRCh38] Chr11:6637893 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.941_942del (p.Glu314fs) |
deletion |
not provided [RCV001067930] |
Chr11:6616448..6616449 [GRCh38] Chr11:6637679..6637680 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.135A>G (p.Glu45=) |
single nucleotide variant |
not provided [RCV000865276] |
Chr11:6618870 [GRCh38] Chr11:6640101 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.972C>T (p.Ser324=) |
single nucleotide variant |
not provided [RCV000982539] |
Chr11:6616418 [GRCh38] Chr11:6637649 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.510G>T (p.Val170=) |
single nucleotide variant |
not provided [RCV000882440] |
Chr11:6617152 [GRCh38] Chr11:6638383 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.573A>T (p.Thr191=) |
single nucleotide variant |
not provided [RCV000981931] |
Chr11:6617089 [GRCh38] Chr11:6638320 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1551+8T>C |
single nucleotide variant |
not provided [RCV000866463] |
Chr11:6614858 [GRCh38] Chr11:6636089 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.438G>A (p.Thr146=) |
single nucleotide variant |
Inborn genetic diseases [RCV002332805]|Neuronal ceroid lipofuscinosis 2 [RCV001274541]|not provided [RCV000868373] |
Chr11:6617371 [GRCh38] Chr11:6638602 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.1020C>G (p.Val340=) |
single nucleotide variant |
not provided [RCV000980865] |
Chr11:6616370 [GRCh38] Chr11:6637601 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.648G>A (p.Val216=) |
single nucleotide variant |
not provided [RCV000982583] |
Chr11:6617014 [GRCh38] Chr11:6638245 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1140C>T (p.Ala380=) |
single nucleotide variant |
not provided [RCV000981059] |
Chr11:6616010 [GRCh38] Chr11:6637241 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.688-10C>T |
single nucleotide variant |
not provided [RCV000927839] |
Chr11:6616869 [GRCh38] Chr11:6638100 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1131C>G (p.Thr377=) |
single nucleotide variant |
not provided [RCV000981309] |
Chr11:6616019 [GRCh38] Chr11:6637250 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.333C>T (p.Cys111=) |
single nucleotide variant |
not provided [RCV000927276] |
Chr11:6617673 [GRCh38] Chr11:6638904 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.6A>G (p.Gly2=) |
single nucleotide variant |
Inborn genetic diseases [RCV002363452]|not provided [RCV000944267] |
Chr11:6619395 [GRCh38] Chr11:6640626 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.918G>A (p.Gln306=) |
single nucleotide variant |
not provided [RCV000879651] |
Chr11:6616472 [GRCh38] Chr11:6637703 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1563C>G (p.Gly521=) |
single nucleotide variant |
not provided [RCV000927922] |
Chr11:6614675 [GRCh38] Chr11:6635906 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.249G>T (p.Glu83Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001275127]|not provided [RCV001560279] |
Chr11:6617757 [GRCh38] Chr11:6638988 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1069G>C (p.Ala357Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001827393]|not provided [RCV001862468] |
Chr11:6616321 [GRCh38] Chr11:6637552 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.763G>C (p.Ala255Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001059092] |
Chr11:6616784 [GRCh38] Chr11:6638015 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1687C>T (p.Pro563Ser) |
single nucleotide variant |
not provided [RCV001862472] |
Chr11:6614551 [GRCh38] Chr11:6635782 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.847G>A (p.Ala283Thr) |
single nucleotide variant |
not provided [RCV001051981] |
Chr11:6616700 [GRCh38] Chr11:6637931 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) |
copy number gain |
Silver-Russell syndrome 1 [RCV000767567] |
Chr11:193146..12643136 [GRCh37] Chr11:11p15.5-15.3 |
pathogenic |
NM_000391.4(TPP1):c.1551+9G>A |
single nucleotide variant |
not provided [RCV000942610] |
Chr11:6614857 [GRCh38] Chr11:6636088 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1449G>A (p.Gly483=) |
single nucleotide variant |
not provided [RCV000928262] |
Chr11:6614968 [GRCh38] Chr11:6636199 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.636C>G (p.Thr212=) |
single nucleotide variant |
not provided [RCV000981930] |
Chr11:6617026 [GRCh38] Chr11:6638257 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.858C>T (p.Asn286=) |
single nucleotide variant |
not provided [RCV000940505] |
Chr11:6616689 [GRCh38] Chr11:6637920 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1068C>T (p.Phe356=) |
single nucleotide variant |
not provided [RCV000937097] |
Chr11:6616322 [GRCh38] Chr11:6637553 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.996C>T (p.Leu332=) |
single nucleotide variant |
not provided [RCV000982524] |
Chr11:6616394 [GRCh38] Chr11:6637625 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1065C>G (p.Leu355=) |
single nucleotide variant |
not provided [RCV000941336] |
Chr11:6616325 [GRCh38] Chr11:6637556 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.325C>T (p.Gln109Ter) |
single nucleotide variant |
not provided [RCV000799250] |
Chr11:6617681 [GRCh38] Chr11:6638912 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.688-18C>G |
single nucleotide variant |
not provided [RCV000839548] |
Chr11:6616877 [GRCh38] Chr11:6638108 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.1076-17C>T |
single nucleotide variant |
not provided [RCV000841809]|not specified [RCV001844241] |
Chr11:6616091 [GRCh38] Chr11:6637322 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.3(TPP1):c.-122T>C |
single nucleotide variant |
not provided [RCV000832481] |
Chr11:6619522 [GRCh38] Chr11:6640753 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001825581]|not provided [RCV001369652] |
Chr11:6615245 [GRCh38] Chr11:6636476 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.746G>T (p.Gly249Val) |
single nucleotide variant |
not provided [RCV000819358] |
Chr11:6616801 [GRCh38] Chr11:6638032 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1145G>C (p.Ser382Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001830809]|not provided [RCV000821227] |
Chr11:6616005 [GRCh38] Chr11:6637236 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1416C>T (p.Ser472=) |
single nucleotide variant |
not provided [RCV000869509] |
Chr11:6615180 [GRCh38] Chr11:6636411 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs) |
microsatellite |
Neuronal ceroid lipofuscinosis [RCV000819442]|not provided [RCV001092691] |
Chr11:6614559..6614560 [GRCh38] Chr11:6635790..6635791 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001104755]|Neuronal ceroid lipofuscinosis 2 [RCV002501061]|not provided [RCV001869254] |
Chr11:6617372 [GRCh38] Chr11:6638603 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.956A>G (p.His319Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001825653]|not provided [RCV001856257] |
Chr11:6616434 [GRCh38] Chr11:6637665 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.3(TPP1):c.-49T>C |
single nucleotide variant |
not provided [RCV000828724] |
Chr11:6619449 [GRCh38] Chr11:6640680 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.880A>T (p.Ser294Cys) |
single nucleotide variant |
not provided [RCV000994560] |
Chr11:6616667 [GRCh38] Chr11:6637898 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1551+70C>T |
single nucleotide variant |
not provided [RCV000833774] |
Chr11:6614796 [GRCh38] Chr11:6636027 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.90-12C>A |
single nucleotide variant |
not provided [RCV000840920] |
Chr11:6618927 [GRCh38] Chr11:6640158 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.17+17G>A |
single nucleotide variant |
not provided [RCV000827443] |
Chr11:6619367 [GRCh38] Chr11:6640598 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001830691]|not provided [RCV001873237] |
Chr11:6614680 [GRCh38] Chr11:6635911 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.381-23G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001835984]|not provided [RCV000830081] |
Chr11:6617451 [GRCh38] Chr11:6638682 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.90-44C>T |
single nucleotide variant |
not provided [RCV000833646] |
Chr11:6618959 [GRCh38] Chr11:6640190 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.688-43C>T |
single nucleotide variant |
not provided [RCV000833647] |
Chr11:6616902 [GRCh38] Chr11:6638133 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.119G>A (p.Arg40His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001274546]|not provided [RCV000815647] |
Chr11:6618886 [GRCh38] Chr11:6640117 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1146-107C>G |
single nucleotide variant |
not provided [RCV000834426] |
Chr11:6615669 [GRCh38] Chr11:6636900 [GRCh37] Chr11:11p15.4 |
benign |
NC_000011.10:g.6616955G>A |
single nucleotide variant |
not provided [RCV000828258] |
Chr11:6638186 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.295G>C (p.Val99Leu) |
single nucleotide variant |
not provided [RCV001343766] |
Chr11:6617711 [GRCh38] Chr11:6638942 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.202G>A (p.Val68Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001825590]|not provided [RCV001856250] |
Chr11:6618803 [GRCh38] Chr11:6640034 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001825562]|not provided [RCV000797713] |
Chr11:6618842 [GRCh38] Chr11:6640073 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance |
NM_000391.4(TPP1):c.1559G>A (p.Arg520His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001273169]|not provided [RCV000811312] |
Chr11:6614679 [GRCh38] Chr11:6635910 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.10:g.6617275A>T |
single nucleotide variant |
not provided [RCV000829851] |
Chr11:6638506 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.1075+42C>T |
single nucleotide variant |
Autosomal recessive spinocerebellar ataxia 7 [RCV001538067]|Neuronal ceroid lipofuscinosis 2 [RCV001538066]|not provided [RCV000829899] |
Chr11:6616273 [GRCh38] Chr11:6637504 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.859A>G (p.Ile287Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002497295]|not provided [RCV000994562] |
Chr11:6616688 [GRCh38] Chr11:6637919 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.687+32T>C |
single nucleotide variant |
Autosomal recessive spinocerebellar ataxia 7 [RCV001538071]|Neuronal ceroid lipofuscinosis 2 [RCV001538070]|not provided [RCV000830089] |
Chr11:6616943 [GRCh38] Chr11:6638174 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.89C>A (p.Thr30Lys) |
single nucleotide variant |
not provided [RCV001869255] |
Chr11:6619196 [GRCh38] Chr11:6640427 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.572C>T (p.Thr191Ile) |
single nucleotide variant |
not provided [RCV001295379] |
Chr11:6617090 [GRCh38] Chr11:6638321 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.209A>G (p.Asp70Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001329232]|not provided [RCV002537370] |
Chr11:6618796 [GRCh38] Chr11:6640027 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1554A>T (p.Val518=) |
single nucleotide variant |
not provided [RCV000939526] |
Chr11:6614684 [GRCh38] Chr11:6635915 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.688-45G>A |
single nucleotide variant |
not provided [RCV000833773] |
Chr11:6616904 [GRCh38] Chr11:6638135 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.508+31G>A |
single nucleotide variant |
not provided [RCV000833799] |
Chr11:6617270 [GRCh38] Chr11:6638501 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.3(TPP1):c.-238T>C |
single nucleotide variant |
not provided [RCV000829389] |
Chr11:6619638 [GRCh38] Chr11:6640869 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.1552-4del |
deletion |
not provided [RCV001369688] |
Chr11:6614690 [GRCh38] Chr11:6635921 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.782T>C (p.Val261Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002406787]|Neuronal ceroid lipofuscinosis 2 [RCV001825589]|not provided [RCV000804021] |
Chr11:6616765 [GRCh38] Chr11:6637996 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.694G>A (p.Glu232Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001825580]|not provided [RCV001338549] |
Chr11:6616853 [GRCh38] Chr11:6638084 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.17G>C (p.Cys6Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001825555]|not provided [RCV001371478] |
Chr11:6619384 [GRCh38] Chr11:6640615 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.687+1G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000988483] |
Chr11:6616974 [GRCh38] Chr11:6638205 [GRCh37] Chr11:11p15.4 |
pathogenic |
GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3 |
copy number gain |
not provided [RCV000849971] |
Chr11:5896551..6719852 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.26G>T (p.Gly9Val) |
single nucleotide variant |
not provided [RCV001065803] |
Chr11:6619259 [GRCh38] Chr11:6640490 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs) |
indel |
Neuronal ceroid lipofuscinosis [RCV001242500]|not provided [RCV001876290] |
Chr11:6615188..6615199 [GRCh38] Chr11:6636419..6636430 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.446A>G (p.His149Arg) |
single nucleotide variant |
not provided [RCV001205076] |
Chr11:6617363 [GRCh38] Chr11:6638594 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1669C>A (p.Leu557Met) |
single nucleotide variant |
not provided [RCV001209429] |
Chr11:6614569 [GRCh38] Chr11:6635800 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1003G>A (p.Ala335Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002402651]|Neuronal ceroid lipofuscinosis 2 [RCV001828728]|not provided [RCV001217456] |
Chr11:6616387 [GRCh38] Chr11:6637618 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1049G>C (p.Arg350Pro) |
single nucleotide variant |
not provided [RCV001237545] |
Chr11:6616341 [GRCh38] Chr11:6637572 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1266+4C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001833918]|not provided [RCV001859219] |
Chr11:6615438 [GRCh38] Chr11:6636669 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.230-8C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001835101]|not provided [RCV002563999] |
Chr11:6617784 [GRCh38] Chr11:6639015 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.509-8C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001833945]|not provided [RCV001859220] |
Chr11:6617161 [GRCh38] Chr11:6638392 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.90-2A>T |
single nucleotide variant |
not provided [RCV001227177] |
Chr11:6618917 [GRCh38] Chr11:6640148 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1228G>A (p.Gly410Ser) |
single nucleotide variant |
not provided [RCV001227190] |
Chr11:6615480 [GRCh38] Chr11:6636711 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1034T>C (p.Met345Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001828815]|not provided [RCV001227343] |
Chr11:6616356 [GRCh38] Chr11:6637587 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1075+2T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001828943]|not provided [RCV001239840] |
Chr11:6616313 [GRCh38] Chr11:6637544 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1099T>C (p.Ser367Pro) |
single nucleotide variant |
not provided [RCV001224372] |
Chr11:6616051 [GRCh38] Chr11:6637282 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.90-3C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001828801]|not provided [RCV001225928] |
Chr11:6618918 [GRCh38] Chr11:6640149 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.770T>C (p.Val257Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001278540]|not provided [RCV002562601] |
Chr11:6616777 [GRCh38] Chr11:6638008 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1075+5C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001835333]|not provided [RCV001248399] |
Chr11:6616310 [GRCh38] Chr11:6637541 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.4(chr11:6607967-6796286)x3 |
copy number gain |
not provided [RCV000846249] |
Chr11:6607967..6796286 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*1741G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001107301] |
Chr11:6612805 [GRCh38] Chr11:6634036 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*984T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001104640] |
Chr11:6613562 [GRCh38] Chr11:6634793 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*829C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001104642] |
Chr11:6613717 [GRCh38] Chr11:6634948 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*346A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001104645] |
Chr11:6614200 [GRCh38] Chr11:6635431 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.199G>C (p.Ala67Pro) |
single nucleotide variant |
not provided [RCV001211850] |
Chr11:6618806 [GRCh38] Chr11:6640037 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*1282C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001102723] |
Chr11:6613264 [GRCh38] Chr11:6634495 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.9:g.(?_6625502)_(6662844_?)dup |
duplication |
not provided [RCV003107734] |
Chr11:6625502..6662844 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1496dup (p.Leu500fs) |
duplication |
not provided [RCV001551129] |
Chr11:6614920..6614921 [GRCh38] Chr11:6636151..6636152 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.508+45G>T |
single nucleotide variant |
not provided [RCV001570079] |
Chr11:6617256 [GRCh38] Chr11:6638487 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.229+19G>A |
single nucleotide variant |
not provided [RCV003107247] |
Chr11:6618757 [GRCh38] Chr11:6639988 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1226G>T (p.Gly409Val) |
single nucleotide variant |
not provided [RCV003106683] |
Chr11:6615482 [GRCh38] Chr11:6636713 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.688-23C>T |
single nucleotide variant |
not provided [RCV001558044] |
Chr11:6616882 [GRCh38] Chr11:6638113 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1552-54C>T |
single nucleotide variant |
not provided [RCV001570788] |
Chr11:6614740 [GRCh38] Chr11:6635971 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.824T>G (p.Leu275Arg) |
single nucleotide variant |
not provided [RCV001532628] |
Chr11:6616723 [GRCh38] Chr11:6637954 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.509-4A>G |
single nucleotide variant |
not provided [RCV000918958] |
Chr11:6617157 [GRCh38] Chr11:6638388 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.894T>C (p.His298=) |
single nucleotide variant |
not provided [RCV000930918] |
Chr11:6616496 [GRCh38] Chr11:6637727 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1536G>A (p.Gly512=) |
single nucleotide variant |
not provided [RCV000933322] |
Chr11:6614881 [GRCh38] Chr11:6636112 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1267-9G>C |
single nucleotide variant |
not provided [RCV000928864] |
Chr11:6615338 [GRCh38] Chr11:6636569 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1426-1G>A |
single nucleotide variant |
not provided [RCV001221954] |
Chr11:6614992 [GRCh38] Chr11:6636223 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.800G>A (p.Gly267Asp) |
single nucleotide variant |
not provided [RCV001203463] |
Chr11:6616747 [GRCh38] Chr11:6637978 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1087delinsTT (p.Ala363fs) |
indel |
Neuronal ceroid lipofuscinosis [RCV001244682] |
Chr11:6616063 [GRCh38] Chr11:6637294 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001836218]|not provided [RCV001243103] |
Chr11:6616501 [GRCh38] Chr11:6637732 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance |
NM_000391.4(TPP1):c.*124C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001107388] |
Chr11:6614422 [GRCh38] Chr11:6635653 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1552-14A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001107390]|not provided [RCV002067793] |
Chr11:6614700 [GRCh38] Chr11:6635931 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.1373G>A (p.Gly458Asp) |
single nucleotide variant |
Seizure [RCV001263299]|not provided [RCV001208281] |
Chr11:6615223 [GRCh38] Chr11:6636454 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*1508G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001107957] |
Chr11:6613038 [GRCh38] Chr11:6634269 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.965C>T (p.Thr322Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001836236]|not provided [RCV001245345] |
Chr11:6616425 [GRCh38] Chr11:6637656 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.563C>T (p.Pro188Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001832431]|not provided [RCV002552574] |
Chr11:6617099 [GRCh38] Chr11:6638330 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.881G>A (p.Ser294Asn) |
single nucleotide variant |
not provided [RCV001209550] |
Chr11:6616666 [GRCh38] Chr11:6637897 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1663G>A (p.Ala555Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001828731]|not provided [RCV001217661] |
Chr11:6614575 [GRCh38] Chr11:6635806 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.11A>T (p.Gln4Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001836212]|not provided [RCV001859222] |
Chr11:6619390 [GRCh38] Chr11:6640621 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.381-7C>T |
single nucleotide variant |
not provided [RCV000935418] |
Chr11:6617435 [GRCh38] Chr11:6638666 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.509-3C>T |
single nucleotide variant |
not provided [RCV001561802] |
Chr11:6617156 [GRCh38] Chr11:6638387 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.10:g.6619625T>C |
single nucleotide variant |
not provided [RCV001577610] |
Chr11:6619625 [GRCh38] Chr11:6640856 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002471430] |
Chr11:6616378 [GRCh38] Chr11:6637609 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000391.4(TPP1):c.89+101G>A |
single nucleotide variant |
not provided [RCV001558595] |
Chr11:6619095 [GRCh38] Chr11:6640326 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.879T>G (p.Ser293Arg) |
single nucleotide variant |
not provided [RCV000994561] |
Chr11:6616668 [GRCh38] Chr11:6637899 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 |
copy number gain |
not provided [RCV001006372] |
Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
NM_000391.4(TPP1):c.*1250T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001102724] |
Chr11:6613296 [GRCh38] Chr11:6634527 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.993C>T (p.Ser331=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001102829]|not provided [RCV001433985] |
Chr11:6616397 [GRCh38] Chr11:6637628 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NC_000011.9:g.(?_5709028)_(6640651_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV001032559] |
Chr11:5709028..6640651 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*241T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001103405] |
Chr11:6614305 [GRCh38] Chr11:6635536 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.89+1G>A |
single nucleotide variant |
Autosomal recessive spinocerebellar ataxia 7 [RCV001252370] |
Chr11:6619195 [GRCh38] Chr11:6640426 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.*716C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001104643] |
Chr11:6613830 [GRCh38] Chr11:6635061 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*704C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001104644] |
Chr11:6613842 [GRCh38] Chr11:6635073 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1425G>A (p.Ser475=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001027809]|Neuronal ceroid lipofuscinosis 2 [RCV001827209]|not provided [RCV001759924] |
Chr11:6615171 [GRCh38] Chr11:6636402 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1582G>A (p.Asp528Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001832467]|not provided [RCV002553234] |
Chr11:6614656 [GRCh38] Chr11:6635887 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.65G>T (p.Ser22Ile) |
single nucleotide variant |
not provided [RCV001092693] |
Chr11:6619220 [GRCh38] Chr11:6640451 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.323C>T (p.Ala108Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001836109]|not provided [RCV001068034] |
Chr11:6617683 [GRCh38] Chr11:6638914 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.*1560C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001107955] |
Chr11:6612986 [GRCh38] Chr11:6634217 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly) |
single nucleotide variant |
See cases [RCV003128424]|not provided [RCV001092692] |
Chr11:6614978 [GRCh38] Chr11:6636209 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000391.4(TPP1):c.*1108T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001102725] |
Chr11:6613438 [GRCh38] Chr11:6634669 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*223T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001107386] |
Chr11:6614323 [GRCh38] Chr11:6635554 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*171T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001107387] |
Chr11:6614375 [GRCh38] Chr11:6635606 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1145+3A>G |
single nucleotide variant |
not provided [RCV001862793] |
Chr11:6616002 [GRCh38] Chr11:6637233 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1222_1224del (p.Ser408del) |
deletion |
not provided [RCV001862794] |
Chr11:6615484..6615486 [GRCh38] Chr11:6636715..6636717 [GRCh37] Chr11:11p15.4 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000391.4(TPP1):c.53A>T (p.Lys18Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002481938]|not provided [RCV001047837] |
Chr11:6619232 [GRCh38] Chr11:6640463 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1426-78T>C |
single nucleotide variant |
Autosomal recessive spinocerebellar ataxia 7 [RCV001538065]|Neuronal ceroid lipofuscinosis 2 [RCV001538064]|not provided [RCV001712987] |
Chr11:6615069 [GRCh38] Chr11:6636300 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.*12C>A |
single nucleotide variant |
not provided [RCV001666123] |
Chr11:6614534 [GRCh38] Chr11:6635765 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.475C>T (p.Leu159Phe) |
single nucleotide variant |
not provided [RCV001048224] |
Chr11:6617334 [GRCh38] Chr11:6638565 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.542C>A (p.Ser181Tyr) |
single nucleotide variant |
not provided [RCV001048971] |
Chr11:6617120 [GRCh38] Chr11:6638351 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.761A>G (p.Gln254Arg) |
single nucleotide variant |
not provided [RCV001206008] |
Chr11:6616786 [GRCh38] Chr11:6638017 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.294G>A (p.Thr98=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001828748]|not provided [RCV001219810] |
Chr11:6617712 [GRCh38] Chr11:6638943 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.1267-2A>G |
single nucleotide variant |
not provided [RCV001057360] |
Chr11:6615331 [GRCh38] Chr11:6636562 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.100G>A (p.Gly34Ser) |
single nucleotide variant |
not provided [RCV001216341] |
Chr11:6618905 [GRCh38] Chr11:6640136 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.535A>T (p.Thr179Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001828670]|not provided [RCV001208515] |
Chr11:6617127 [GRCh38] Chr11:6638358 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1660C>T (p.Pro554Ser) |
single nucleotide variant |
not provided [RCV001233991] |
Chr11:6614578 [GRCh38] Chr11:6635809 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1034T>G (p.Met345Arg) |
single nucleotide variant |
not provided [RCV001234140] |
Chr11:6616356 [GRCh38] Chr11:6637587 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*937C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001104641] |
Chr11:6613609 [GRCh38] Chr11:6634840 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1186C>G (p.Pro396Ala) |
single nucleotide variant |
not provided [RCV001248103] |
Chr11:6615522 [GRCh38] Chr11:6636753 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.376_380+6del |
deletion |
not provided [RCV001235198] |
Chr11:6617620..6617630 [GRCh38] Chr11:6638851..6638861 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.778G>C (p.Val260Leu) |
single nucleotide variant |
not provided [RCV001206968] |
Chr11:6616769 [GRCh38] Chr11:6638000 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.679T>C (p.Cys227Arg) |
single nucleotide variant |
not provided [RCV001070527] |
Chr11:6616983 [GRCh38] Chr11:6638214 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance |
NM_000391.4(TPP1):c.1142C>G (p.Ser381Cys) |
single nucleotide variant |
not provided [RCV001234145] |
Chr11:6616008 [GRCh38] Chr11:6637239 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1443T>G (p.Phe481Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001835325]|not provided [RCV001248199] |
Chr11:6614974 [GRCh38] Chr11:6636205 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*1540T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001107956] |
Chr11:6613006 [GRCh38] Chr11:6634237 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.*1478T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001107958] |
Chr11:6613068 [GRCh38] Chr11:6634299 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.313G>T (p.Ala105Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001274543]|not provided [RCV001037242] |
Chr11:6617693 [GRCh38] Chr11:6638924 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1181A>T (p.Gln394Leu) |
single nucleotide variant |
not provided [RCV001229583] |
Chr11:6615527 [GRCh38] Chr11:6636758 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.533del (p.Pro178fs) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV001250747] |
Chr11:6617129 [GRCh38] Chr11:6638360 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 |
copy number gain |
Silver-Russell syndrome 1 [RCV001263222] |
Chr11:210300..8664358 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_000391.4(TPP1):c.807C>T (p.Ala269=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001278539]|not provided [RCV001411311] |
Chr11:6616740 [GRCh38] Chr11:6637971 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.843G>A (p.Met281Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001262372] |
Chr11:6616704 [GRCh38] Chr11:6637935 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.420C>A (p.His140Gln) |
single nucleotide variant |
not provided [RCV001341906] |
Chr11:6617389 [GRCh38] Chr11:6638620 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.772_773delinsTA (p.Ala258Tyr) |
indel |
not provided [RCV001301082] |
Chr11:6616774..6616775 [GRCh38] Chr11:6638005..6638006 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1483A>C (p.Ser495Arg) |
single nucleotide variant |
not provided [RCV001339557] |
Chr11:6614934 [GRCh38] Chr11:6636165 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.274T>C (p.Ser92Pro) |
single nucleotide variant |
not provided [RCV001339594] |
Chr11:6617732 [GRCh38] Chr11:6638963 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1381G>T (p.Val461Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001831062]|not provided [RCV001340463] |
Chr11:6615215 [GRCh38] Chr11:6636446 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.241A>G (p.Thr81Ala) |
single nucleotide variant |
not provided [RCV001315563] |
Chr11:6617765 [GRCh38] Chr11:6638996 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.272C>T (p.Pro91Leu) |
single nucleotide variant |
not provided [RCV001306669] |
Chr11:6617734 [GRCh38] Chr11:6638965 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.79C>G (p.Gln27Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001835469]|not provided [RCV001304425] |
Chr11:6619206 [GRCh38] Chr11:6640437 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.94C>T (p.Pro32Ser) |
single nucleotide variant |
not provided [RCV001306054] |
Chr11:6618911 [GRCh38] Chr11:6640142 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.593T>C (p.Leu198Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001835516]|not provided [RCV001309247] |
Chr11:6617069 [GRCh38] Chr11:6638300 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1162G>A (p.Val388Met) |
single nucleotide variant |
not provided [RCV001313720] |
Chr11:6615546 [GRCh38] Chr11:6636777 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.925A>T (p.Met309Leu) |
single nucleotide variant |
not provided [RCV001319483] |
Chr11:6616465 [GRCh38] Chr11:6637696 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.886+5del |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV001830296]|not provided [RCV001315591] |
Chr11:6616656 [GRCh38] Chr11:6637887 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.548G>A (p.Arg183Lys) |
single nucleotide variant |
not provided [RCV001316640] |
Chr11:6617114 [GRCh38] Chr11:6638345 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.97C>T (p.Pro33Ser) |
single nucleotide variant |
not provided [RCV001305768] |
Chr11:6618908 [GRCh38] Chr11:6640139 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.9:g.(?_5709028)_(6640651_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV001032559]|not provided [RCV001327815] |
Chr11:5709028..6640651 [GRCh37] Chr11:11p15.4 |
uncertain significance|no classifications from unflagged records |
NM_000391.4(TPP1):c.1643G>A (p.Trp548Ter) |
single nucleotide variant |
not provided [RCV001359304] |
Chr11:6614595 [GRCh38] Chr11:6635826 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.84G>A (p.Arg28=) |
single nucleotide variant |
not provided [RCV001392444] |
Chr11:6619201 [GRCh38] Chr11:6640432 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.89+34C>T |
single nucleotide variant |
not provided [RCV001581594] |
Chr11:6619162 [GRCh38] Chr11:6640393 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.220C>T (p.Pro74Ser) |
single nucleotide variant |
not provided [RCV001343703] |
Chr11:6618785 [GRCh38] Chr11:6640016 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.968T>C (p.Val323Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001826034]|not provided [RCV001364966] |
Chr11:6616422 [GRCh38] Chr11:6637653 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.742G>A (p.Gly248Ser) |
single nucleotide variant |
not provided [RCV001327378] |
Chr11:6616805 [GRCh38] Chr11:6638036 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.88A>G (p.Thr30Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001835412]|not provided [RCV001298032] |
Chr11:6619197 [GRCh38] Chr11:6640428 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.917A>T (p.Gln306Leu) |
single nucleotide variant |
not provided [RCV001372078] |
Chr11:6616473 [GRCh38] Chr11:6637704 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.898G>A (p.Gly300Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001825979]|not provided [RCV001352218] |
Chr11:6616492 [GRCh38] Chr11:6637723 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1434T>C (p.Thr478=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001278537]|not provided [RCV002069429] |
Chr11:6614983 [GRCh38] Chr11:6636214 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.508+10A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001278543]|not provided [RCV001482018] |
Chr11:6617291 [GRCh38] Chr11:6638522 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.51C>G (p.Gly17=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001278544]|not provided [RCV001491337] |
Chr11:6619234 [GRCh38] Chr11:6640465 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.145C>G (p.Leu49Val) |
single nucleotide variant |
not provided [RCV001369183] |
Chr11:6618860 [GRCh38] Chr11:6640091 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.751T>C (p.Phe251Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001291790]|not provided [RCV001859234] |
Chr11:6616796 [GRCh38] Chr11:6638027 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.803G>A (p.Arg268Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001835386]|not provided [RCV001294982] |
Chr11:6616744 [GRCh38] Chr11:6637975 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.145C>T (p.Leu49Phe) |
single nucleotide variant |
not provided [RCV001307160] |
Chr11:6618860 [GRCh38] Chr11:6640091 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.82C>T (p.Arg28Trp) |
single nucleotide variant |
not provided [RCV001339348] |
Chr11:6619203 [GRCh38] Chr11:6640434 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.76G>A (p.Asp26Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001836262]|not provided [RCV001298788] |
Chr11:6619209 [GRCh38] Chr11:6640440 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1035G>A (p.Met345Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002547496]|not provided [RCV001349661] |
Chr11:6616355 [GRCh38] Chr11:6637586 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.735C>T (p.Arg245=) |
single nucleotide variant |
not provided [RCV001421494] |
Chr11:6616812 [GRCh38] Chr11:6638043 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.97C>A (p.Pro33Thr) |
single nucleotide variant |
not provided [RCV001350473] |
Chr11:6618908 [GRCh38] Chr11:6640139 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1146-5C>T |
single nucleotide variant |
not provided [RCV001395468] |
Chr11:6615567 [GRCh38] Chr11:6636798 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1467T>A (p.Asn489Lys) |
single nucleotide variant |
not provided [RCV001340312] |
Chr11:6614950 [GRCh38] Chr11:6636181 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.80_81delinsTT (p.Gln27Leu) |
indel |
not provided [RCV001306579] |
Chr11:6619204..6619205 [GRCh38] Chr11:6640435..6640436 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.992C>A (p.Ser331Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001835399]|not provided [RCV001296391] |
Chr11:6616398 [GRCh38] Chr11:6637629 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1075+10T>C |
single nucleotide variant |
not provided [RCV001394917] |
Chr11:6616305 [GRCh38] Chr11:6637536 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1570G>A (p.Glu524Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001278536] |
Chr11:6614668 [GRCh38] Chr11:6635899 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.18-7C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001278547] |
Chr11:6619274 [GRCh38] Chr11:6640505 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1017G>T (p.Arg339=) |
single nucleotide variant |
not provided [RCV001421433] |
Chr11:6616373 [GRCh38] Chr11:6637604 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1634T>C (p.Val545Ala) |
single nucleotide variant |
not provided [RCV001297746] |
Chr11:6614604 [GRCh38] Chr11:6635835 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001836357]|not provided [RCV001359219] |
Chr11:6614922 [GRCh38] Chr11:6636153 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.426G>T (p.Val142=) |
single nucleotide variant |
not provided [RCV001395230] |
Chr11:6617383 [GRCh38] Chr11:6638614 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.378C>A (p.Ile126=) |
single nucleotide variant |
not provided [RCV001395565] |
Chr11:6617628 [GRCh38] Chr11:6638859 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1662A>G (p.Pro554=) |
single nucleotide variant |
not provided [RCV001492140] |
Chr11:6614576 [GRCh38] Chr11:6635807 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.390G>A (p.Glu130=) |
single nucleotide variant |
not provided [RCV001499022] |
Chr11:6617419 [GRCh38] Chr11:6638650 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.38_68del (p.Leu13fs) |
deletion |
not provided [RCV001380118] |
Chr11:6619217..6619247 [GRCh38] Chr11:6640448..6640478 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1398G>A (p.Val466=) |
single nucleotide variant |
not provided [RCV001469937] |
Chr11:6615198 [GRCh38] Chr11:6636429 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.264G>T (p.Leu88=) |
single nucleotide variant |
not provided [RCV001468276] |
Chr11:6617742 [GRCh38] Chr11:6638973 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.447T>C (p.His149=) |
single nucleotide variant |
not provided [RCV001502978] |
Chr11:6617362 [GRCh38] Chr11:6638593 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.111C>T (p.Ser37=) |
single nucleotide variant |
not provided [RCV001436217] |
Chr11:6618894 [GRCh38] Chr11:6640125 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1503C>A (p.Gly501=) |
single nucleotide variant |
not provided [RCV001483243] |
Chr11:6614914 [GRCh38] Chr11:6636145 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.230-7C>T |
single nucleotide variant |
not provided [RCV001458046] |
Chr11:6617783 [GRCh38] Chr11:6639014 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1005C>T (p.Ala335=) |
single nucleotide variant |
not provided [RCV001486392] |
Chr11:6616385 [GRCh38] Chr11:6637616 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1143C>T (p.Ser381=) |
single nucleotide variant |
not provided [RCV001442029] |
Chr11:6616007 [GRCh38] Chr11:6637238 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.801C>T (p.Gly267=) |
single nucleotide variant |
not provided [RCV001431234] |
Chr11:6616746 [GRCh38] Chr11:6637977 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.381-20C>T |
single nucleotide variant |
not provided [RCV001471816] |
Chr11:6617448 [GRCh38] Chr11:6638679 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.650G>T (p.Gly217Val) |
single nucleotide variant |
not provided [RCV001379247] |
Chr11:6617012 [GRCh38] Chr11:6638243 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NC_000011.9:g.(?_6559613)_(6640631_?)del |
deletion |
not provided [RCV001386249] |
Chr11:6559613..6640631 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.509-10C>T |
single nucleotide variant |
not provided [RCV001398188] |
Chr11:6617163 [GRCh38] Chr11:6638394 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.18-4A>G |
single nucleotide variant |
not provided [RCV001434784] |
Chr11:6619271 [GRCh38] Chr11:6640502 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1053T>C (p.Gly351=) |
single nucleotide variant |
not provided [RCV001416150] |
Chr11:6616337 [GRCh38] Chr11:6637568 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.624A>T (p.Arg208=) |
single nucleotide variant |
not provided [RCV001483830] |
Chr11:6617038 [GRCh38] Chr11:6638269 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.171T>C (p.Asn57=) |
single nucleotide variant |
not provided [RCV001488267] |
Chr11:6618834 [GRCh38] Chr11:6640065 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.969G>A (p.Val323=) |
single nucleotide variant |
not provided [RCV001484960] |
Chr11:6616421 [GRCh38] Chr11:6637652 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1076-8T>C |
single nucleotide variant |
not provided [RCV001471255] |
Chr11:6616082 [GRCh38] Chr11:6637313 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.887-6A>C |
single nucleotide variant |
not provided [RCV001393804] |
Chr11:6616509 [GRCh38] Chr11:6637740 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1218T>A (p.Tyr406Ter) |
single nucleotide variant |
not provided [RCV001386078] |
Chr11:6615490 [GRCh38] Chr11:6636721 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1041T>C (p.Ala347=) |
single nucleotide variant |
not provided [RCV001409819] |
Chr11:6616349 [GRCh38] Chr11:6637580 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.408del (p.Glu137fs) |
deletion |
not provided [RCV001388355] |
Chr11:6617401 [GRCh38] Chr11:6638632 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.89+10C>G |
single nucleotide variant |
not provided [RCV001399581] |
Chr11:6619186 [GRCh38] Chr11:6640417 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.147C>T (p.Leu49=) |
single nucleotide variant |
not provided [RCV001410529] |
Chr11:6618858 [GRCh38] Chr11:6640089 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1206A>G (p.Glu402=) |
single nucleotide variant |
not provided [RCV001410548] |
Chr11:6615502 [GRCh38] Chr11:6636733 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1302C>T (p.Pro434=) |
single nucleotide variant |
not provided [RCV001403644] |
Chr11:6615294 [GRCh38] Chr11:6636525 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.930G>C (p.Leu310=) |
single nucleotide variant |
not provided [RCV001444370] |
Chr11:6616460 [GRCh38] Chr11:6637691 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.489G>A (p.Leu163=) |
single nucleotide variant |
not provided [RCV001405818] |
Chr11:6617320 [GRCh38] Chr11:6638551 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.688-9C>T |
single nucleotide variant |
not provided [RCV001423922] |
Chr11:6616868 [GRCh38] Chr11:6638099 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.617G>C (p.Arg206Pro) |
single nucleotide variant |
not provided [RCV001379665] |
Chr11:6617045 [GRCh38] Chr11:6638276 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.18-6C>T |
single nucleotide variant |
not provided [RCV001427029] |
Chr11:6619273 [GRCh38] Chr11:6640504 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.747C>G (p.Gly249=) |
single nucleotide variant |
not provided [RCV001405676] |
Chr11:6616800 [GRCh38] Chr11:6638031 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1533T>C (p.His511=) |
single nucleotide variant |
not provided [RCV001408155] |
Chr11:6614884 [GRCh38] Chr11:6636115 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.186G>A (p.Ser62=) |
single nucleotide variant |
not provided [RCV001423968] |
Chr11:6618819 [GRCh38] Chr11:6640050 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1323C>T (p.Tyr441=) |
single nucleotide variant |
not provided [RCV001408281] |
Chr11:6615273 [GRCh38] Chr11:6636504 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000391.4(TPP1):c.999C>T (p.Ser333=) |
single nucleotide variant |
not provided [RCV001431712] |
Chr11:6616391 [GRCh38] Chr11:6637622 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.891G>T (p.Arg297=) |
single nucleotide variant |
not provided [RCV001411103] |
Chr11:6616499 [GRCh38] Chr11:6637730 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000391.4(TPP1):c.54A>T (p.Lys18Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002350866]|not provided [RCV001438011] |
Chr11:6619231 [GRCh38] Chr11:6640462 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.975T>C (p.Tyr325=) |
single nucleotide variant |
not provided [RCV001411148] |
Chr11:6616415 [GRCh38] Chr11:6637646 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1299C>T (p.Ser433=) |
single nucleotide variant |
not provided [RCV001429530] |
Chr11:6615297 [GRCh38] Chr11:6636528 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.429A>G (p.Gly143=) |
single nucleotide variant |
not provided [RCV001445568] |
Chr11:6617380 [GRCh38] Chr11:6638611 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1494C>G (p.Pro498=) |
single nucleotide variant |
not provided [RCV001411423] |
Chr11:6614923 [GRCh38] Chr11:6636154 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.509-2A>G |
single nucleotide variant |
not provided [RCV001390988] |
Chr11:6617155 [GRCh38] Chr11:6638386 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.126C>T (p.Asp42=) |
single nucleotide variant |
not provided [RCV001436889] |
Chr11:6618879 [GRCh38] Chr11:6640110 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.509-6C>T |
single nucleotide variant |
not provided [RCV001408946] |
Chr11:6617159 [GRCh38] Chr11:6638390 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1683C>T (p.Leu561=) |
single nucleotide variant |
not provided [RCV001411576] |
Chr11:6614555 [GRCh38] Chr11:6635786 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.768A>G (p.Ser256=) |
single nucleotide variant |
not provided [RCV001485504] |
Chr11:6616779 [GRCh38] Chr11:6638010 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.951G>C (p.Leu317=) |
single nucleotide variant |
not provided [RCV001461107] |
Chr11:6616439 [GRCh38] Chr11:6637670 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.552A>G (p.Gln184=) |
single nucleotide variant |
not provided [RCV001501936] |
Chr11:6617110 [GRCh38] Chr11:6638341 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1225G>A (p.Gly409Ser) |
single nucleotide variant |
not provided [RCV001509399] |
Chr11:6615483 [GRCh38] Chr11:6636714 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1218T>C (p.Tyr406=) |
single nucleotide variant |
not provided [RCV001457948] |
Chr11:6615490 [GRCh38] Chr11:6636721 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.606C>T (p.Pro202=) |
single nucleotide variant |
not provided [RCV001486160] |
Chr11:6617056 [GRCh38] Chr11:6638287 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.204G>T (p.Val68=) |
single nucleotide variant |
not provided [RCV001490552] |
Chr11:6618801 [GRCh38] Chr11:6640032 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1671G>A (p.Leu557=) |
single nucleotide variant |
not provided [RCV001490690] |
Chr11:6614567 [GRCh38] Chr11:6635798 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000391.4(TPP1):c.252T>C (p.Asn84=) |
single nucleotide variant |
not provided [RCV001473552] |
Chr11:6617754 [GRCh38] Chr11:6638985 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.321A>G (p.Gly107=) |
single nucleotide variant |
not provided [RCV001479233] |
Chr11:6617685 [GRCh38] Chr11:6638916 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.229+9T>G |
single nucleotide variant |
not provided [RCV001502996] |
Chr11:6618767 [GRCh38] Chr11:6639998 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1426-6T>C |
single nucleotide variant |
not provided [RCV001451508] |
Chr11:6614997 [GRCh38] Chr11:6636228 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1104C>T (p.Val368=) |
single nucleotide variant |
not provided [RCV001476143] |
Chr11:6616046 [GRCh38] Chr11:6637277 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.519G>T (p.Leu173=) |
single nucleotide variant |
not provided [RCV001459236] |
Chr11:6617143 [GRCh38] Chr11:6638374 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.93G>A (p.Leu31=) |
single nucleotide variant |
not provided [RCV001452017] |
Chr11:6618912 [GRCh38] Chr11:6640143 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1092G>A (p.Gly364=) |
single nucleotide variant |
not provided [RCV001469577] |
Chr11:6616058 [GRCh38] Chr11:6637289 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.6619550C>T |
single nucleotide variant |
not provided [RCV001651844] |
Chr11:6619550 [GRCh38] Chr11:6640781 [GRCh37] Chr11:11p15.4 |
benign |
NM_000391.4(TPP1):c.186G>C (p.Ser62=) |
single nucleotide variant |
not provided [RCV001715202] |
Chr11:6618819 [GRCh38] Chr11:6640050 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000391.4(TPP1):c.309C>T (p.Leu103=) |
single nucleotide variant |
not provided [RCV001487369] |
Chr11:6617697 [GRCh38] Chr11:6638928 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.509-13C>T |
single nucleotide variant |
not provided [RCV001460052] |
Chr11:6617166 [GRCh38] Chr11:6638397 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.180A>G (p.Arg60=) |
single nucleotide variant |
not provided [RCV001399585] |
Chr11:6618825 [GRCh38] Chr11:6640056 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.754_757del (p.Ala252fs) |
deletion |
not provided [RCV001387833] |
Chr11:6616790..6616793 [GRCh38] Chr11:6638021..6638024 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.375C>T (p.Ser125=) |
single nucleotide variant |
not provided [RCV001481289] |
Chr11:6617631 [GRCh38] Chr11:6638862 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.556C>T (p.Pro186Ser) |
single nucleotide variant |
not provided [RCV001509400] |
Chr11:6617106 [GRCh38] Chr11:6638337 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.795C>T (p.Gly265=) |
single nucleotide variant |
not provided [RCV001417257] |
Chr11:6616752 [GRCh38] Chr11:6637983 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.230-20C>T |
single nucleotide variant |
not provided [RCV001455550] |
Chr11:6617796 [GRCh38] Chr11:6639027 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002512153]|not provided [RCV001387036] |
Chr11:6614612 [GRCh38] Chr11:6635843 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.549G>A (p.Arg183=) |
single nucleotide variant |
not provided [RCV001415660] |
Chr11:6617113 [GRCh38] Chr11:6638344 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1026T>A (p.Thr342=) |
single nucleotide variant |
not provided [RCV001461315] |
Chr11:6616364 [GRCh38] Chr11:6637595 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1254G>A (p.Arg418=) |
single nucleotide variant |
not provided [RCV001436459] |
Chr11:6615454 [GRCh38] Chr11:6636685 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.120T>C (p.Arg40=) |
single nucleotide variant |
not provided [RCV001438251] |
Chr11:6618885 [GRCh38] Chr11:6640116 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1323_1326del (p.Ser440_Tyr441insTer) |
deletion |
not provided [RCV001387413] |
Chr11:6615270..6615273 [GRCh38] Chr11:6636501..6636504 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.657C>T (p.Gly219=) |
single nucleotide variant |
not provided [RCV001454444] |
Chr11:6617005 [GRCh38] Chr11:6638236 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.987_989del (p.Glu329del) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV001375971] |
Chr11:6616401..6616403 [GRCh38] Chr11:6637632..6637634 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.930G>A (p.Leu310=) |
single nucleotide variant |
not provided [RCV001399551] |
Chr11:6616460 [GRCh38] Chr11:6637691 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.899del (p.Gly300fs) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV002246784] |
Chr11:6616491 [GRCh38] Chr11:6637722 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1016G>T (p.Arg339Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV001823310]|not provided [RCV001783896] |
Chr11:6616374 [GRCh38] Chr11:6637605 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance |
NM_000391.4(TPP1):c.142A>C (p.Ser48Arg) |
single nucleotide variant |
not provided [RCV001770822] |
Chr11:6618863 [GRCh38] Chr11:6640094 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1087del (p.Ala363fs) |
deletion |
not provided [RCV001783897] |
Chr11:6616063 [GRCh38] Chr11:6637294 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1319G>C (p.Ser440Thr) |
single nucleotide variant |
not provided [RCV001772982] |
Chr11:6615277 [GRCh38] Chr11:6636508 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.80A>G (p.Gln27Arg) |
single nucleotide variant |
not provided [RCV001765073] |
Chr11:6619205 [GRCh38] Chr11:6640436 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.67C>T (p.Pro23Ser) |
single nucleotide variant |
not provided [RCV001765708] |
Chr11:6619218 [GRCh38] Chr11:6640449 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.583_584insTACA (p.Gly195fs) |
insertion |
not provided [RCV001785080] |
Chr11:6617078..6617079 [GRCh38] Chr11:6638309..6638310 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1524C>T (p.Tyr508=) |
single nucleotide variant |
not specified [RCV001806724] |
Chr11:6614893 [GRCh38] Chr11:6636124 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1219A>G (p.Ile407Val) |
single nucleotide variant |
not provided [RCV001982640] |
Chr11:6615489 [GRCh38] Chr11:6636720 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1043C>A (p.Ala348Asp) |
single nucleotide variant |
not provided [RCV001929720] |
Chr11:6616347 [GRCh38] Chr11:6637578 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1426-20T>C |
single nucleotide variant |
not provided [RCV002045438] |
Chr11:6615011 [GRCh38] Chr11:6636242 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.620A>C (p.Lys207Thr) |
single nucleotide variant |
not provided [RCV002044843] |
Chr11:6617042 [GRCh38] Chr11:6638273 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.461C>T (p.Pro154Leu) |
single nucleotide variant |
not provided [RCV001894935] |
Chr11:6617348 [GRCh38] Chr11:6638579 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1007A>G (p.Tyr336Cys) |
single nucleotide variant |
not provided [RCV001950210] |
Chr11:6616383 [GRCh38] Chr11:6637614 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.323C>G (p.Ala108Gly) |
single nucleotide variant |
not provided [RCV001929593] |
Chr11:6617683 [GRCh38] Chr11:6638914 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.155C>A (p.Ala52Asp) |
single nucleotide variant |
not provided [RCV002006326] |
Chr11:6618850 [GRCh38] Chr11:6640081 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.472C>T (p.Gln158Ter) |
single nucleotide variant |
not provided [RCV001949549] |
Chr11:6617337 [GRCh38] Chr11:6638568 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.89+5_89+9del |
deletion |
not provided [RCV001970936] |
Chr11:6619187..6619191 [GRCh38] Chr11:6640418..6640422 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.478C>G (p.Pro160Ala) |
single nucleotide variant |
not provided [RCV001914934] |
Chr11:6617331 [GRCh38] Chr11:6638562 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1574C>T (p.Ser525Phe) |
single nucleotide variant |
not provided [RCV001864054] |
Chr11:6614664 [GRCh38] Chr11:6635895 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.479C>T (p.Pro160Leu) |
single nucleotide variant |
not provided [RCV001864584] |
Chr11:6617330 [GRCh38] Chr11:6638561 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.17+9T>C |
single nucleotide variant |
not provided [RCV002041771] |
Chr11:6619375 [GRCh38] Chr11:6640606 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.799G>C (p.Gly267Arg) |
single nucleotide variant |
not provided [RCV001890031] |
Chr11:6616748 [GRCh38] Chr11:6637979 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.805G>A (p.Ala269Thr) |
single nucleotide variant |
not provided [RCV001909900] |
Chr11:6616742 [GRCh38] Chr11:6637973 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.431G>A (p.Gly144Glu) |
single nucleotide variant |
not provided [RCV002001959] |
Chr11:6617378 [GRCh38] Chr11:6638609 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1514C>T (p.Pro505Leu) |
single nucleotide variant |
not provided [RCV001968295] |
Chr11:6614903 [GRCh38] Chr11:6636134 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1644G>A (p.Trp548Ter) |
single nucleotide variant |
not provided [RCV001967332] |
Chr11:6614594 [GRCh38] Chr11:6635825 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.992C>G (p.Ser331Cys) |
single nucleotide variant |
not provided [RCV001946110] |
Chr11:6616398 [GRCh38] Chr11:6637629 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1674G>C (p.Lys558Asn) |
single nucleotide variant |
not provided [RCV001911784] |
Chr11:6614564 [GRCh38] Chr11:6635795 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.290A>G (p.His97Arg) |
single nucleotide variant |
not provided [RCV001863353] |
Chr11:6617716 [GRCh38] Chr11:6638947 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.3G>C (p.Met1Ile) |
single nucleotide variant |
not provided [RCV001966805] |
Chr11:6619398 [GRCh38] Chr11:6640629 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1597G>A (p.Gly533Ser) |
single nucleotide variant |
not provided [RCV001890254] |
Chr11:6614641 [GRCh38] Chr11:6635872 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1676C>G (p.Thr559Ser) |
single nucleotide variant |
not provided [RCV001965560] |
Chr11:6614562 [GRCh38] Chr11:6635793 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.530C>T (p.Pro177Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003355688]|not provided [RCV001987470] |
Chr11:6617132 [GRCh38] Chr11:6638363 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.68C>T (p.Pro23Leu) |
single nucleotide variant |
not provided [RCV002039491] |
Chr11:6619217 [GRCh38] Chr11:6640448 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1554A>G (p.Val518=) |
single nucleotide variant |
not provided [RCV002084538] |
Chr11:6614684 [GRCh38] Chr11:6635915 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.377T>G (p.Ile126Ser) |
single nucleotide variant |
not provided [RCV002023574] |
Chr11:6617629 [GRCh38] Chr11:6638860 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1318A>G (p.Ser440Gly) |
single nucleotide variant |
not provided [RCV001968392] |
Chr11:6615278 [GRCh38] Chr11:6636509 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.509-6C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002484587]|not provided [RCV001926740] |
Chr11:6617159 [GRCh38] Chr11:6638390 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.275C>A (p.Ser92Tyr) |
single nucleotide variant |
not provided [RCV002043554] |
Chr11:6617731 [GRCh38] Chr11:6638962 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1470G>C (p.Glu490Asp) |
single nucleotide variant |
not provided [RCV002040985] |
Chr11:6614947 [GRCh38] Chr11:6636178 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.535A>G (p.Thr179Ala) |
single nucleotide variant |
not provided [RCV001964984] |
Chr11:6617127 [GRCh38] Chr11:6638358 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1548_1551dup (p.Val518Ter) |
duplication |
not provided [RCV001946669] |
Chr11:6614865..6614866 [GRCh38] Chr11:6636096..6636097 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.340G>A (p.Val114Met) |
single nucleotide variant |
not provided [RCV001910420] |
Chr11:6617666 [GRCh38] Chr11:6638897 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3 |
copy number gain |
not provided [RCV001836564] |
Chr11:6502523..7248333 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1551T>G (p.Asp517Glu) |
single nucleotide variant |
not provided [RCV001932333] |
Chr11:6614866 [GRCh38] Chr11:6636097 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.416A>G (p.His139Arg) |
single nucleotide variant |
not provided [RCV001936505] |
Chr11:6617393 [GRCh38] Chr11:6638624 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1681C>G (p.Leu561Val) |
single nucleotide variant |
not provided [RCV001926276] |
Chr11:6614557 [GRCh38] Chr11:6635788 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1066T>A (p.Phe356Ile) |
single nucleotide variant |
not provided [RCV001936893] |
Chr11:6616324 [GRCh38] Chr11:6637555 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1186C>A (p.Pro396Thr) |
single nucleotide variant |
not provided [RCV001905970] |
Chr11:6615522 [GRCh38] Chr11:6636753 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.706C>G (p.His236Asp) |
single nucleotide variant |
not provided [RCV001980835] |
Chr11:6616841 [GRCh38] Chr11:6638072 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.629A>G (p.Asn210Ser) |
single nucleotide variant |
not provided [RCV001877749] |
Chr11:6617033 [GRCh38] Chr11:6638264 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.568G>A (p.Val190Met) |
single nucleotide variant |
not provided [RCV001937167] |
Chr11:6617094 [GRCh38] Chr11:6638325 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.190C>G (p.Leu64Val) |
single nucleotide variant |
not provided [RCV001997326] |
Chr11:6618815 [GRCh38] Chr11:6640046 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1496del (p.Pro499fs) |
deletion |
not provided [RCV001999869] |
Chr11:6614921 [GRCh38] Chr11:6636152 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.133G>A (p.Glu45Lys) |
single nucleotide variant |
not provided [RCV001919574] |
Chr11:6618872 [GRCh38] Chr11:6640103 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.433C>G (p.Pro145Ala) |
single nucleotide variant |
not provided [RCV002038260] |
Chr11:6617376 [GRCh38] Chr11:6638607 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.10:g.6615330del |
deletion |
not provided [RCV001935719] |
Chr11:6615329 [GRCh38] Chr11:6636560 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1247T>A (p.Phe416Tyr) |
single nucleotide variant |
not provided [RCV001959872] |
Chr11:6615461 [GRCh38] Chr11:6636692 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1363_1425+9del |
deletion |
not provided [RCV001917200] |
Chr11:6615162..6615233 [GRCh38] Chr11:6636393..6636464 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.649G>C (p.Gly217Arg) |
single nucleotide variant |
not provided [RCV002027607] |
Chr11:6617013 [GRCh38] Chr11:6638244 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1045G>C (p.Ala349Pro) |
single nucleotide variant |
not provided [RCV002019113] |
Chr11:6616345 [GRCh38] Chr11:6637576 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1399C>T (p.Pro467Ser) |
single nucleotide variant |
not provided [RCV002036822] |
Chr11:6615197 [GRCh38] Chr11:6636428 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.449T>C (p.Val150Ala) |
single nucleotide variant |
not provided [RCV001883698] |
Chr11:6617360 [GRCh38] Chr11:6638591 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1345T>A (p.Tyr449Asn) |
single nucleotide variant |
not provided [RCV001887014] |
Chr11:6615251 [GRCh38] Chr11:6636482 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.90-7C>G |
single nucleotide variant |
not provided [RCV001952590] |
Chr11:6618922 [GRCh38] Chr11:6640153 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1450A>C (p.Ile484Leu) |
single nucleotide variant |
not provided [RCV002047710] |
Chr11:6614967 [GRCh38] Chr11:6636198 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1621G>A (p.Gly541Ser) |
single nucleotide variant |
not provided [RCV001974970] |
Chr11:6614617 [GRCh38] Chr11:6635848 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.752T>C (p.Phe251Ser) |
single nucleotide variant |
not provided [RCV001904909] |
Chr11:6616795 [GRCh38] Chr11:6638026 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.101G>C (p.Gly34Ala) |
single nucleotide variant |
not provided [RCV001883024] |
Chr11:6618904 [GRCh38] Chr11:6640135 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.177_194del (p.Arg60_Val65del) |
deletion |
not provided [RCV001935869] |
Chr11:6618811..6618828 [GRCh38] Chr11:6640042..6640059 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1540G>T (p.Gly514Ter) |
single nucleotide variant |
not provided [RCV001881725] |
Chr11:6614877 [GRCh38] Chr11:6636108 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.493C>T (p.Pro165Ser) |
single nucleotide variant |
not provided [RCV001935205] |
Chr11:6617316 [GRCh38] Chr11:6638547 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1301C>T (p.Pro434Leu) |
single nucleotide variant |
not provided [RCV001973141] |
Chr11:6615295 [GRCh38] Chr11:6636526 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1411G>A (p.Val471Met) |
single nucleotide variant |
not provided [RCV001880767] |
Chr11:6615185 [GRCh38] Chr11:6636416 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1465A>G (p.Asn489Asp) |
single nucleotide variant |
not provided [RCV001973531] |
Chr11:6614952 [GRCh38] Chr11:6636183 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1187C>T (p.Pro396Leu) |
single nucleotide variant |
not provided [RCV002013814] |
Chr11:6615521 [GRCh38] Chr11:6636752 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.421T>C (p.Tyr141His) |
single nucleotide variant |
not provided [RCV002010035] |
Chr11:6617388 [GRCh38] Chr11:6638619 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1461G>C (p.Leu487Phe) |
single nucleotide variant |
not provided [RCV001989473] |
Chr11:6614956 [GRCh38] Chr11:6636187 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1471del (p.His491fs) |
deletion |
not provided [RCV001989768] |
Chr11:6614946 [GRCh38] Chr11:6636177 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.470A>T (p.Tyr157Phe) |
single nucleotide variant |
not provided [RCV001904626] |
Chr11:6617339 [GRCh38] Chr11:6638570 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.512G>A (p.Gly171Glu) |
single nucleotide variant |
not provided [RCV001940789] |
Chr11:6617150 [GRCh38] Chr11:6638381 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1565G>A (p.Cys522Tyr) |
single nucleotide variant |
not provided [RCV001977725] |
Chr11:6614673 [GRCh38] Chr11:6635904 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1148C>T (p.Pro383Leu) |
single nucleotide variant |
not provided [RCV001925182] |
Chr11:6615560 [GRCh38] Chr11:6636791 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.706C>T (p.His236Tyr) |
single nucleotide variant |
not provided [RCV001902994] |
Chr11:6616841 [GRCh38] Chr11:6638072 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.817G>T (p.Ala273Ser) |
single nucleotide variant |
not provided [RCV002047218] |
Chr11:6616730 [GRCh38] Chr11:6637961 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1145G>A (p.Ser382Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002484574]|not provided [RCV001954827] |
Chr11:6616005 [GRCh38] Chr11:6637236 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro) |
single nucleotide variant |
not provided [RCV002028747]|not specified [RCV003120801] |
Chr11:6618823 [GRCh38] Chr11:6640054 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance |
NM_000391.4(TPP1):c.532C>T (p.Pro178Ser) |
single nucleotide variant |
not provided [RCV001936431] |
Chr11:6617130 [GRCh38] Chr11:6638361 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1087_1088insT (p.Ala363fs) |
insertion |
not provided [RCV001939305] |
Chr11:6616062..6616063 [GRCh38] Chr11:6637293..6637294 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1614T>A (p.Ser538=) |
single nucleotide variant |
not provided [RCV001958139] |
Chr11:6614624 [GRCh38] Chr11:6635855 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.13G>T (p.Ala5Ser) |
single nucleotide variant |
not provided [RCV001940532] |
Chr11:6619388 [GRCh38] Chr11:6640619 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.304T>C (p.Trp102Arg) |
single nucleotide variant |
not provided [RCV002013748] |
Chr11:6617702 [GRCh38] Chr11:6638933 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1690T>C (p.Ter564Arg) |
single nucleotide variant |
not provided [RCV001930912] |
Chr11:6614548 [GRCh38] Chr11:6635779 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1558del (p.Arg520fs) |
deletion |
not provided [RCV001959015] |
Chr11:6614680 [GRCh38] Chr11:6635911 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1425+2T>G |
single nucleotide variant |
not provided [RCV002017801] |
Chr11:6615169 [GRCh38] Chr11:6636400 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.300A>C (p.Gln100His) |
single nucleotide variant |
not provided [RCV001905924] |
Chr11:6617706 [GRCh38] Chr11:6638937 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.509T>C (p.Val170Ala) |
single nucleotide variant |
not provided [RCV001886150] |
Chr11:6617153 [GRCh38] Chr11:6638384 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.52A>T (p.Lys18Ter) |
single nucleotide variant |
not provided [RCV001939828] |
Chr11:6619233 [GRCh38] Chr11:6640464 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.289C>T (p.His97Tyr) |
single nucleotide variant |
not provided [RCV001899009] |
Chr11:6617717 [GRCh38] Chr11:6638948 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1592T>C (p.Val531Ala) |
single nucleotide variant |
not provided [RCV001971980] |
Chr11:6614646 [GRCh38] Chr11:6635877 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.615C>G (p.Ile205Met) |
single nucleotide variant |
not provided [RCV001882985] |
Chr11:6617047 [GRCh38] Chr11:6638278 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002479451]|not provided [RCV001921566] |
Chr11:6615317 [GRCh38] Chr11:6636548 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.955C>T (p.His319Tyr) |
single nucleotide variant |
not provided [RCV002026608] |
Chr11:6616435 [GRCh38] Chr11:6637666 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.389A>G (p.Glu130Gly) |
single nucleotide variant |
not provided [RCV001902001] |
Chr11:6617420 [GRCh38] Chr11:6638651 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1186C>T (p.Pro396Ser) |
single nucleotide variant |
not provided [RCV001903116] |
Chr11:6615522 [GRCh38] Chr11:6636753 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.5G>A (p.Gly2Glu) |
single nucleotide variant |
not provided [RCV001921825] |
Chr11:6619396 [GRCh38] Chr11:6640627 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1468G>T (p.Glu490Ter) |
single nucleotide variant |
not provided [RCV001880756] |
Chr11:6614949 [GRCh38] Chr11:6636180 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.312G>A (p.Leu104=) |
single nucleotide variant |
not provided [RCV002085559] |
Chr11:6617694 [GRCh38] Chr11:6638925 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1455A>G (p.Leu485=) |
single nucleotide variant |
not provided [RCV002187772] |
Chr11:6614962 [GRCh38] Chr11:6636193 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.210T>C (p.Asp70=) |
single nucleotide variant |
not provided [RCV002166628] |
Chr11:6618795 [GRCh38] Chr11:6640026 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1023C>T (p.Asn341=) |
single nucleotide variant |
not provided [RCV002071286] |
Chr11:6616367 [GRCh38] Chr11:6637598 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.117C>T (p.Gly39=) |
single nucleotide variant |
not provided [RCV002192099] |
Chr11:6618888 [GRCh38] Chr11:6640119 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1506T>C (p.Phe502=) |
single nucleotide variant |
not provided [RCV002147914] |
Chr11:6614911 [GRCh38] Chr11:6636142 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.906G>A (p.Glu302=) |
single nucleotide variant |
not provided [RCV002190386] |
Chr11:6616484 [GRCh38] Chr11:6637715 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1426-17C>T |
single nucleotide variant |
not provided [RCV002205672] |
Chr11:6615008 [GRCh38] Chr11:6636239 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.887-15A>G |
single nucleotide variant |
not provided [RCV002192346] |
Chr11:6616518 [GRCh38] Chr11:6637749 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.63C>T (p.Tyr21=) |
single nucleotide variant |
not provided [RCV002192502] |
Chr11:6619222 [GRCh38] Chr11:6640453 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.753T>C (p.Phe251=) |
single nucleotide variant |
not provided [RCV002190564] |
Chr11:6616794 [GRCh38] Chr11:6638025 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.198G>A (p.Gln66=) |
single nucleotide variant |
not provided [RCV002106310] |
Chr11:6618807 [GRCh38] Chr11:6640038 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.887-11A>G |
single nucleotide variant |
not provided [RCV002073716] |
Chr11:6616514 [GRCh38] Chr11:6637745 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1075+8C>T |
single nucleotide variant |
not provided [RCV002189211] |
Chr11:6616307 [GRCh38] Chr11:6637538 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.396G>A (p.Leu132=) |
single nucleotide variant |
not provided [RCV002105719] |
Chr11:6617413 [GRCh38] Chr11:6638644 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1215C>T (p.Asp405=) |
single nucleotide variant |
not provided [RCV002166888] |
Chr11:6615493 [GRCh38] Chr11:6636724 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1473C>T (p.His491=) |
single nucleotide variant |
not provided [RCV002147312] |
Chr11:6614944 [GRCh38] Chr11:6636175 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.229+181A>C |
single nucleotide variant |
not specified [RCV002246927] |
Chr11:6618595 [GRCh38] Chr11:6639826 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.486C>T (p.Ala162=) |
single nucleotide variant |
not provided [RCV002188239] |
Chr11:6617323 [GRCh38] Chr11:6638554 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1145+13G>A |
single nucleotide variant |
not provided [RCV002208319] |
Chr11:6615992 [GRCh38] Chr11:6637223 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1260A>G (p.Ser420=) |
single nucleotide variant |
not provided [RCV002192580] |
Chr11:6615448 [GRCh38] Chr11:6636679 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1266+15G>C |
single nucleotide variant |
not provided [RCV002195803] |
Chr11:6615427 [GRCh38] Chr11:6636658 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1551+17A>G |
single nucleotide variant |
not provided [RCV002214867] |
Chr11:6614849 [GRCh38] Chr11:6636080 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1425+20C>T |
single nucleotide variant |
not provided [RCV002153696] |
Chr11:6615151 [GRCh38] Chr11:6636382 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.354C>T (p.Asp118=) |
single nucleotide variant |
not provided [RCV002076932] |
Chr11:6617652 [GRCh38] Chr11:6638883 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.267G>A (p.Val89=) |
single nucleotide variant |
not provided [RCV002104329] |
Chr11:6617739 [GRCh38] Chr11:6638970 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1491C>G (p.Arg497=) |
single nucleotide variant |
not provided [RCV002152495] |
Chr11:6614926 [GRCh38] Chr11:6636157 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.949C>T (p.Leu317=) |
single nucleotide variant |
not provided [RCV002096919] |
Chr11:6616441 [GRCh38] Chr11:6637672 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.534A>G (p.Pro178=) |
single nucleotide variant |
not provided [RCV002089778] |
Chr11:6617128 [GRCh38] Chr11:6638359 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1266+11T>C |
single nucleotide variant |
not provided [RCV002078759] |
Chr11:6615431 [GRCh38] Chr11:6636662 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1503C>T (p.Gly501=) |
single nucleotide variant |
not provided [RCV002173390] |
Chr11:6614914 [GRCh38] Chr11:6636145 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.687+9A>G |
single nucleotide variant |
not provided [RCV002213806] |
Chr11:6616966 [GRCh38] Chr11:6638197 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.453A>G (p.Val151=) |
single nucleotide variant |
not provided [RCV002211954] |
Chr11:6617356 [GRCh38] Chr11:6638587 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1443T>C (p.Phe481=) |
single nucleotide variant |
not provided [RCV002150700] |
Chr11:6614974 [GRCh38] Chr11:6636205 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.387A>T (p.Ala129=) |
single nucleotide variant |
not provided [RCV002173243] |
Chr11:6617422 [GRCh38] Chr11:6638653 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1243G>A (p.Val415Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002210902] |
Chr11:6615465 [GRCh38] Chr11:6636696 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1288_1289dup (p.Leu430_Ser431insTer) |
duplication |
not provided [RCV002211176] |
Chr11:6615306..6615307 [GRCh38] Chr11:6636537..6636538 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.89+9A>G |
single nucleotide variant |
not provided [RCV002147817] |
Chr11:6619187 [GRCh38] Chr11:6640418 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.207G>C (p.Ser69=) |
single nucleotide variant |
not provided [RCV002114467] |
Chr11:6618798 [GRCh38] Chr11:6640029 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.508+9T>G |
single nucleotide variant |
not provided [RCV002149667] |
Chr11:6617292 [GRCh38] Chr11:6638523 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.240G>C (p.Leu80=) |
single nucleotide variant |
not provided [RCV002150214] |
Chr11:6617766 [GRCh38] Chr11:6638997 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.230-13T>A |
single nucleotide variant |
not provided [RCV002210834] |
Chr11:6617789 [GRCh38] Chr11:6639020 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1145+10C>T |
single nucleotide variant |
not provided [RCV002123058] |
Chr11:6615995 [GRCh38] Chr11:6637226 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.876C>T (p.Tyr292=) |
single nucleotide variant |
not provided [RCV002177371] |
Chr11:6616671 [GRCh38] Chr11:6637902 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1362A>T (p.Ala454=) |
single nucleotide variant |
not provided [RCV002119792] |
Chr11:6615234 [GRCh38] Chr11:6636465 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1485T>C (p.Ser495=) |
single nucleotide variant |
not provided [RCV002219043] |
Chr11:6614932 [GRCh38] Chr11:6636163 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1200A>G (p.Thr400=) |
single nucleotide variant |
not provided [RCV002098486] |
Chr11:6615508 [GRCh38] Chr11:6636739 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1552-11C>T |
single nucleotide variant |
not provided [RCV002141956] |
Chr11:6614697 [GRCh38] Chr11:6635928 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.150C>T (p.Thr50=) |
single nucleotide variant |
not provided [RCV002176410] |
Chr11:6618855 [GRCh38] Chr11:6640086 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.688-6C>T |
single nucleotide variant |
not provided [RCV002138592] |
Chr11:6616865 [GRCh38] Chr11:6638096 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.810G>C (p.Gly270=) |
single nucleotide variant |
not provided [RCV002199315] |
Chr11:6616737 [GRCh38] Chr11:6637968 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.564G>A (p.Pro188=) |
single nucleotide variant |
not provided [RCV002201518] |
Chr11:6617098 [GRCh38] Chr11:6638329 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1146-7C>T |
single nucleotide variant |
not provided [RCV002157925] |
Chr11:6615569 [GRCh38] Chr11:6636800 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1552-12C>A |
single nucleotide variant |
not provided [RCV002200158] |
Chr11:6614698 [GRCh38] Chr11:6635929 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.864C>T (p.Ser288=) |
single nucleotide variant |
not provided [RCV002102514] |
Chr11:6616683 [GRCh38] Chr11:6637914 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1686C>T (p.Asn562=) |
single nucleotide variant |
not provided [RCV002163942] |
Chr11:6614552 [GRCh38] Chr11:6635783 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.327G>A (p.Gln109=) |
single nucleotide variant |
not provided [RCV002217540] |
Chr11:6617679 [GRCh38] Chr11:6638910 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.39C>T (p.Leu13=) |
single nucleotide variant |
not provided [RCV002120549] |
Chr11:6619246 [GRCh38] Chr11:6640477 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1158C>T (p.Thr386=) |
single nucleotide variant |
not provided [RCV002082807] |
Chr11:6615550 [GRCh38] Chr11:6636781 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1422C>T (p.Thr474=) |
single nucleotide variant |
not provided [RCV002220197] |
Chr11:6615174 [GRCh38] Chr11:6636405 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.688-13A>T |
single nucleotide variant |
not provided [RCV002202329] |
Chr11:6616872 [GRCh38] Chr11:6638103 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.687+18C>T |
single nucleotide variant |
not provided [RCV002082591] |
Chr11:6616957 [GRCh38] Chr11:6638188 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.459C>T (p.Ser153=) |
single nucleotide variant |
not provided [RCV002178692] |
Chr11:6617350 [GRCh38] Chr11:6638581 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.513G>A (p.Gly171=) |
single nucleotide variant |
not provided [RCV002121193] |
Chr11:6617149 [GRCh38] Chr11:6638380 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.508+7C>T |
single nucleotide variant |
not provided [RCV002121409] |
Chr11:6617294 [GRCh38] Chr11:6638525 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1145+17A>G |
single nucleotide variant |
not provided [RCV002099999] |
Chr11:6615988 [GRCh38] Chr11:6637219 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1212T>G (p.Val404=) |
single nucleotide variant |
not provided [RCV002177354] |
Chr11:6615496 [GRCh38] Chr11:6636727 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.276C>T (p.Ser92=) |
single nucleotide variant |
not provided [RCV002156091] |
Chr11:6617730 [GRCh38] Chr11:6638961 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.688-8C>T |
single nucleotide variant |
not provided [RCV002104133] |
Chr11:6616867 [GRCh38] Chr11:6638098 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1335T>C (p.Ser445=) |
single nucleotide variant |
not provided [RCV002219896] |
Chr11:6615261 [GRCh38] Chr11:6636492 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1551+19G>A |
single nucleotide variant |
not provided [RCV002102658] |
Chr11:6614847 [GRCh38] Chr11:6636078 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.36C>T (p.Ala12=) |
single nucleotide variant |
not provided [RCV002144241] |
Chr11:6619249 [GRCh38] Chr11:6640480 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.21C>T (p.Leu7=) |
single nucleotide variant |
not provided [RCV002182232] |
Chr11:6619264 [GRCh38] Chr11:6640495 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.380+11A>G |
single nucleotide variant |
not provided [RCV002120867] |
Chr11:6617615 [GRCh38] Chr11:6638846 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1545C>G (p.Leu515=) |
single nucleotide variant |
not provided [RCV003116693] |
Chr11:6614872 [GRCh38] Chr11:6636103 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.510G>C (p.Val170=) |
single nucleotide variant |
not provided [RCV003112757] |
Chr11:6617152 [GRCh38] Chr11:6638383 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.337dup (p.Ser113fs) |
duplication |
not provided [RCV003112210] |
Chr11:6617668..6617669 [GRCh38] Chr11:6638899..6638900 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.9:g.(?_6411829)_(6662844_?)dup |
duplication |
not provided [RCV003111159] |
Chr11:6411829..6662844 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1168G>C (p.Gly390Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002283983] |
Chr11:6615540 [GRCh38] Chr11:6636771 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.68C>G (p.Pro23Arg) |
single nucleotide variant |
not provided [RCV002261918] |
Chr11:6619217 [GRCh38] Chr11:6640448 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1588G>A (p.Glu530Lys) |
single nucleotide variant |
not provided [RCV002260802] |
Chr11:6614650 [GRCh38] Chr11:6635881 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.130G>T (p.Glu44Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002275703] |
Chr11:6618875 [GRCh38] Chr11:6640106 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.790C>T (p.Gln264Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002266274] |
Chr11:6616757 [GRCh38] Chr11:6637988 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1012C>T (p.Gln338Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002287302] |
Chr11:6616378 [GRCh38] Chr11:6637609 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 |
copy number gain |
See cases [RCV002286351] |
Chr11:230615..26881146 [GRCh37] Chr11:11p15.5-14.2 |
pathogenic |
NM_000391.4(TPP1):c.73C>A (p.Pro25Thr) |
single nucleotide variant |
not provided [RCV002290910] |
Chr11:6619212 [GRCh38] Chr11:6640443 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.808G>C (p.Gly270Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002419431] |
Chr11:6616739 [GRCh38] Chr11:6637970 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.958G>A (p.Val320Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002385250] |
Chr11:6616432 [GRCh38] Chr11:6637663 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.553C>G (p.Arg185Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002351875] |
Chr11:6617109 [GRCh38] Chr11:6638340 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1029G>A (p.Glu343=) |
single nucleotide variant |
not provided [RCV002837690] |
Chr11:6616361 [GRCh38] Chr11:6637592 [GRCh37] Chr11:11p15.4 |
likely benign |
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 |
copy number gain |
not provided [RCV002472435] |
Chr11:230616..8250724 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_000391.4(TPP1):c.1190T>G (p.Phe397Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002335562] |
Chr11:6615518 [GRCh38] Chr11:6636749 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.238dup (p.Leu80fs) |
duplication |
Neuronal ceroid lipofuscinosis 2 [RCV002307077] |
Chr11:6617767..6617768 [GRCh38] Chr11:6638998..6638999 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1199_1200del (p.Thr400fs) |
microsatellite |
Neuronal ceroid lipofuscinosis 2 [RCV002308246] |
Chr11:6615508..6615509 [GRCh38] Chr11:6636739..6636740 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs) |
indel |
Neuronal ceroid lipofuscinosis 2 [RCV002309831] |
Chr11:6615458..6615460 [GRCh38] Chr11:6636689..6636691 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1104dup (p.Ser369fs) |
duplication |
Neuronal ceroid lipofuscinosis 2 [RCV002308457] |
Chr11:6616045..6616046 [GRCh38] Chr11:6637276..6637277 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.638C>A (p.Ser213Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002310309] |
Chr11:6617024 [GRCh38] Chr11:6638255 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002310333] |
Chr11:6616671 [GRCh38] Chr11:6637902 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1422C>G (p.Thr474=) |
single nucleotide variant |
Inborn genetic diseases [RCV002391841] |
Chr11:6615174 [GRCh38] Chr11:6636405 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV002309045] |
Chr11:6615531..6615532 [GRCh38] Chr11:6636762..6636763 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.262_270delinsAT (p.Leu88fs) |
indel |
Neuronal ceroid lipofuscinosis 2 [RCV002308023] |
Chr11:6617736..6617744 [GRCh38] Chr11:6638967..6638975 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.904G>T (p.Glu302Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002309059] |
Chr11:6616486 [GRCh38] Chr11:6637717 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.17+2T>A |
single nucleotide variant |
Inborn genetic diseases [RCV002406305]|not provided [RCV003097138] |
Chr11:6619382 [GRCh38] Chr11:6640613 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1020_1021del (p.Asn341fs) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV002308017] |
Chr11:6616369..6616370 [GRCh38] Chr11:6637600..6637601 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.147del (p.Thr50fs) |
deletion |
Neuronal ceroid lipofuscinosis 2 [RCV002309845] |
Chr11:6618858 [GRCh38] Chr11:6640089 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.636_638delinsA (p.Ser213fs) |
indel |
Neuronal ceroid lipofuscinosis 2 [RCV002310108] |
Chr11:6617024..6617026 [GRCh38] Chr11:6638255..6638257 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.760C>T (p.Gln254Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002310324] |
Chr11:6616787 [GRCh38] Chr11:6638018 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1213_1214delinsT (p.Asp405fs) |
indel |
Neuronal ceroid lipofuscinosis 2 [RCV002306689] |
Chr11:6615494..6615495 [GRCh38] Chr11:6636725..6636726 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.767C>A (p.Ser256Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV002310313] |
Chr11:6616780 [GRCh38] Chr11:6638011 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1439T>C (p.Val480Ala) |
single nucleotide variant |
not provided [RCV002771211] |
Chr11:6614978 [GRCh38] Chr11:6636209 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.24A>G (p.Leu8=) |
single nucleotide variant |
not provided [RCV002993791] |
Chr11:6619261 [GRCh38] Chr11:6640492 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.18-17del |
deletion |
not provided [RCV002881485] |
Chr11:6619284 [GRCh38] Chr11:6640515 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1075+12C>A |
single nucleotide variant |
not provided [RCV002815750] |
Chr11:6616303 [GRCh38] Chr11:6637534 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.415C>T (p.His139Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002858846] |
Chr11:6617394 [GRCh38] Chr11:6638625 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1075+16A>G |
single nucleotide variant |
not provided [RCV002685595] |
Chr11:6616299 [GRCh38] Chr11:6637530 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.243C>T (p.Thr81=) |
single nucleotide variant |
not provided [RCV002971303] |
Chr11:6617763 [GRCh38] Chr11:6638994 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1679_1683del (p.Leu560fs) |
deletion |
not provided [RCV003011747] |
Chr11:6614555..6614559 [GRCh38] Chr11:6635786..6635790 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.597G>A (p.Gly199=) |
single nucleotide variant |
not provided [RCV003034004] |
Chr11:6617065 [GRCh38] Chr11:6638296 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1449G>C (p.Gly483=) |
single nucleotide variant |
not provided [RCV002690412] |
Chr11:6614968 [GRCh38] Chr11:6636199 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.193G>A (p.Val65Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003077072]|not provided [RCV003077071] |
Chr11:6618812 [GRCh38] Chr11:6640043 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.831G>A (p.Val277=) |
single nucleotide variant |
not provided [RCV002996953] |
Chr11:6616716 [GRCh38] Chr11:6637947 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1632T>C (p.Pro544=) |
single nucleotide variant |
not provided [RCV002815522] |
Chr11:6614606 [GRCh38] Chr11:6635837 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1641C>T (p.Gly547=) |
single nucleotide variant |
not provided [RCV002819905] |
Chr11:6614597 [GRCh38] Chr11:6635828 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000391.4(TPP1):c.408T>C (p.Ala136=) |
single nucleotide variant |
not provided [RCV002843557] |
Chr11:6617401 [GRCh38] Chr11:6638632 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.922C>T (p.Leu308Phe) |
single nucleotide variant |
not provided [RCV003076589] |
Chr11:6616468 [GRCh38] Chr11:6637699 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1076-19T>C |
single nucleotide variant |
not provided [RCV002755598] |
Chr11:6616093 [GRCh38] Chr11:6637324 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.541T>A (p.Ser181Thr) |
single nucleotide variant |
not provided [RCV002843814] |
Chr11:6617121 [GRCh38] Chr11:6638352 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1425+12C>A |
single nucleotide variant |
not provided [RCV003011838] |
Chr11:6615159 [GRCh38] Chr11:6636390 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.773C>T (p.Ala258Val) |
single nucleotide variant |
not provided [RCV002508501] |
Chr11:6616774 [GRCh38] Chr11:6638005 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.259G>A (p.Asp87Asn) |
single nucleotide variant |
not provided [RCV002838290] |
Chr11:6617747 [GRCh38] Chr11:6638978 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1601A>G (p.Gln534Arg) |
single nucleotide variant |
not provided [RCV003014042] |
Chr11:6614637 [GRCh38] Chr11:6635868 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1653dup (p.Asn552fs) |
duplication |
not provided [RCV003033764] |
Chr11:6614584..6614585 [GRCh38] Chr11:6635815..6635816 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1585G>A (p.Glu529Lys) |
single nucleotide variant |
not provided [RCV002862946] |
Chr11:6614653 [GRCh38] Chr11:6635884 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1217A>C (p.Tyr406Ser) |
single nucleotide variant |
not provided [RCV003095722] |
Chr11:6615491 [GRCh38] Chr11:6636722 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.89C>T (p.Thr30Met) |
single nucleotide variant |
not provided [RCV002815243] |
Chr11:6619196 [GRCh38] Chr11:6640427 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1635A>G (p.Val545=) |
single nucleotide variant |
not provided [RCV002775170] |
Chr11:6614603 [GRCh38] Chr11:6635834 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1157C>G (p.Thr386Ser) |
single nucleotide variant |
not provided [RCV002880229] |
Chr11:6615551 [GRCh38] Chr11:6636782 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1145+15C>A |
single nucleotide variant |
not provided [RCV003097654] |
Chr11:6615990 [GRCh38] Chr11:6637221 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.917del (p.Gln306fs) |
deletion |
not provided [RCV002843100] |
Chr11:6616473 [GRCh38] Chr11:6637704 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1228G>T (p.Gly410Cys) |
single nucleotide variant |
not provided [RCV002843300] |
Chr11:6615480 [GRCh38] Chr11:6636711 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.229+18G>A |
single nucleotide variant |
not provided [RCV002948012] |
Chr11:6618758 [GRCh38] Chr11:6639989 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.488T>C (p.Leu163Ser) |
single nucleotide variant |
not provided [RCV002819111] |
Chr11:6617321 [GRCh38] Chr11:6638552 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1146-4T>C |
single nucleotide variant |
not provided [RCV002863010] |
Chr11:6615566 [GRCh38] Chr11:6636797 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1129A>T (p.Thr377Ser) |
single nucleotide variant |
not provided [RCV003016216] |
Chr11:6616021 [GRCh38] Chr11:6637252 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.399C>T (p.Leu133=) |
single nucleotide variant |
not provided [RCV003017318] |
Chr11:6617410 [GRCh38] Chr11:6638641 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1603G>A (p.Gly535Ser) |
single nucleotide variant |
not provided [RCV003039592] |
Chr11:6614635 [GRCh38] Chr11:6635866 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.605C>A (p.Pro202His) |
single nucleotide variant |
not provided [RCV002871575] |
Chr11:6617057 [GRCh38] Chr11:6638288 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.905A>G (p.Glu302Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002708030] |
Chr11:6616485 [GRCh38] Chr11:6637716 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1287C>T (p.Phe429=) |
single nucleotide variant |
not provided [RCV003003098] |
Chr11:6615309 [GRCh38] Chr11:6636540 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.37C>G (p.Leu13Val) |
single nucleotide variant |
not provided [RCV002848135] |
Chr11:6619248 [GRCh38] Chr11:6640479 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.28C>A (p.Leu10Ile) |
single nucleotide variant |
not provided [RCV002848244] |
Chr11:6619257 [GRCh38] Chr11:6640488 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.520_524del (p.His174fs) |
deletion |
not provided [RCV003037658] |
Chr11:6617138..6617142 [GRCh38] Chr11:6638369..6638373 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.849T>C (p.Ala283=) |
single nucleotide variant |
not provided [RCV002571141] |
Chr11:6616698 [GRCh38] Chr11:6637929 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.426G>A (p.Val142=) |
single nucleotide variant |
not provided [RCV003019278] |
Chr11:6617383 [GRCh38] Chr11:6638614 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1076-9C>T |
single nucleotide variant |
not provided [RCV003038158] |
Chr11:6616083 [GRCh38] Chr11:6637314 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.687+10G>A |
single nucleotide variant |
not provided [RCV002847464] |
Chr11:6616965 [GRCh38] Chr11:6638196 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1380G>C (p.Trp460Cys) |
single nucleotide variant |
not provided [RCV002591249] |
Chr11:6615216 [GRCh38] Chr11:6636447 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.192G>T (p.Leu64=) |
single nucleotide variant |
not provided [RCV002847530] |
Chr11:6618813 [GRCh38] Chr11:6640044 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.508+19A>T |
single nucleotide variant |
not provided [RCV002953026] |
Chr11:6617282 [GRCh38] Chr11:6638513 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.803G>C (p.Arg268Pro) |
single nucleotide variant |
not provided [RCV003036448] |
Chr11:6616744 [GRCh38] Chr11:6637975 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.96C>G (p.Pro32=) |
single nucleotide variant |
not provided [RCV002889341] |
Chr11:6618909 [GRCh38] Chr11:6640140 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1076-9C>G |
single nucleotide variant |
not provided [RCV002927383] |
Chr11:6616083 [GRCh38] Chr11:6637314 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.509-8C>G |
single nucleotide variant |
not provided [RCV002846512] |
Chr11:6617161 [GRCh38] Chr11:6638392 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.28C>G (p.Leu10Val) |
single nucleotide variant |
not provided [RCV002909754] |
Chr11:6619257 [GRCh38] Chr11:6640488 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.528T>C (p.Phe176=) |
single nucleotide variant |
not provided [RCV002885425] |
Chr11:6617134 [GRCh38] Chr11:6638365 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1425G>C (p.Ser475=) |
single nucleotide variant |
not provided [RCV002735224] |
Chr11:6615171 [GRCh38] Chr11:6636402 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.423T>C (p.Tyr141=) |
single nucleotide variant |
not provided [RCV003037724] |
Chr11:6617386 [GRCh38] Chr11:6638617 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.123G>T (p.Ala41=) |
single nucleotide variant |
not provided [RCV002637255] |
Chr11:6618882 [GRCh38] Chr11:6640113 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1477_1478dup (p.Leu494fs) |
duplication |
not provided [RCV002796678] |
Chr11:6614938..6614939 [GRCh38] Chr11:6636169..6636170 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.471C>T (p.Tyr157=) |
single nucleotide variant |
not provided [RCV002638591] |
Chr11:6617338 [GRCh38] Chr11:6638569 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.501G>A (p.Val167=) |
single nucleotide variant |
not provided [RCV002796055] |
Chr11:6617308 [GRCh38] Chr11:6638539 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1531C>T (p.His511Tyr) |
single nucleotide variant |
not provided [RCV003036710] |
Chr11:6614886 [GRCh38] Chr11:6636117 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1513C>T (p.Pro505Ser) |
single nucleotide variant |
not provided [RCV003038170] |
Chr11:6614904 [GRCh38] Chr11:6636135 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.188A>T (p.Glu63Val) |
single nucleotide variant |
not provided [RCV003078712] |
Chr11:6618817 [GRCh38] Chr11:6640048 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1490del (p.Arg497fs) |
deletion |
not provided [RCV003019268] |
Chr11:6614927 [GRCh38] Chr11:6636158 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1590G>A (p.Glu530=) |
single nucleotide variant |
not provided [RCV002886319] |
Chr11:6614648 [GRCh38] Chr11:6635879 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.606dup (p.Ser203fs) |
duplication |
not provided [RCV003059760] |
Chr11:6617055..6617056 [GRCh38] Chr11:6638286..6638287 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.284C>T (p.Thr95Ile) |
single nucleotide variant |
not provided [RCV002790830] |
Chr11:6617722 [GRCh38] Chr11:6638953 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1075+17_1075+24del |
deletion |
not provided [RCV002982698] |
Chr11:6616291..6616298 [GRCh38] Chr11:6637522..6637529 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1540G>C (p.Gly514Arg) |
single nucleotide variant |
not provided [RCV002701303] |
Chr11:6614877 [GRCh38] Chr11:6636108 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.146_155del (p.Leu49fs) |
deletion |
not provided [RCV002932752] |
Chr11:6618850..6618859 [GRCh38] Chr11:6640081..6640090 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1551+16A>C |
single nucleotide variant |
not provided [RCV002871953] |
Chr11:6614850 [GRCh38] Chr11:6636081 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.590A>G (p.His197Arg) |
single nucleotide variant |
not provided [RCV002626770] |
Chr11:6617072 [GRCh38] Chr11:6638303 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1145+2T>C |
single nucleotide variant |
not provided [RCV002791596] |
Chr11:6616003 [GRCh38] Chr11:6637234 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.30C>T (p.Leu10=) |
single nucleotide variant |
not provided [RCV003007257] |
Chr11:6619255 [GRCh38] Chr11:6640486 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1552-13G>C |
single nucleotide variant |
not provided [RCV002766344] |
Chr11:6614699 [GRCh38] Chr11:6635930 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.474G>T (p.Gln158His) |
single nucleotide variant |
not provided [RCV002801133] |
Chr11:6617335 [GRCh38] Chr11:6638566 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.18-10G>A |
single nucleotide variant |
not provided [RCV003007484] |
Chr11:6619277 [GRCh38] Chr11:6640508 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.887G>A (p.Gly296Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002875222] |
Chr11:6616503 [GRCh38] Chr11:6637734 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1124G>A (p.Arg375His) |
single nucleotide variant |
not provided [RCV003085831] |
Chr11:6616026 [GRCh38] Chr11:6637257 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.690C>T (p.Phe230=) |
single nucleotide variant |
not provided [RCV002872444] |
Chr11:6616857 [GRCh38] Chr11:6638088 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.6618916del |
deletion |
not provided [RCV003005583] |
Chr11:6618915 [GRCh38] Chr11:6640146 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1146-15G>A |
single nucleotide variant |
not provided [RCV003056950] |
Chr11:6615577 [GRCh38] Chr11:6636808 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.501G>C (p.Val167=) |
single nucleotide variant |
not provided [RCV003024490] |
Chr11:6617308 [GRCh38] Chr11:6638539 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.925A>G (p.Met309Val) |
single nucleotide variant |
not provided [RCV003083330] |
Chr11:6616465 [GRCh38] Chr11:6637696 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.587T>G (p.Leu196Arg) |
single nucleotide variant |
not provided [RCV002852390] |
Chr11:6617075 [GRCh38] Chr11:6638306 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.723T>C (p.Ala241=) |
single nucleotide variant |
not provided [RCV003057934] |
Chr11:6616824 [GRCh38] Chr11:6638055 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1331C>T (p.Ala444Val) |
single nucleotide variant |
not provided [RCV002624853] |
Chr11:6615265 [GRCh38] Chr11:6636496 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1179C>T (p.Phe393=) |
single nucleotide variant |
not provided [RCV003007964] |
Chr11:6615529 [GRCh38] Chr11:6636760 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1092G>C (p.Gly364=) |
single nucleotide variant |
not provided [RCV003005189] |
Chr11:6616058 [GRCh38] Chr11:6637289 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1652C>G (p.Pro551Arg) |
single nucleotide variant |
not provided [RCV003057935] |
Chr11:6614586 [GRCh38] Chr11:6635817 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.175_195del (p.Glu59_Val65del) |
deletion |
not provided [RCV002894037] |
Chr11:6618810..6618830 [GRCh38] Chr11:6640041..6640061 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1436C>T (p.Pro479Leu) |
single nucleotide variant |
not provided [RCV002667919] |
Chr11:6614981 [GRCh38] Chr11:6636212 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.381-17_381-4del |
deletion |
not provided [RCV003058285] |
Chr11:6617432..6617445 [GRCh38] Chr11:6638663..6638676 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.603C>T (p.Thr201=) |
single nucleotide variant |
not provided [RCV002626156] |
Chr11:6617059 [GRCh38] Chr11:6638290 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.886+4C>T |
single nucleotide variant |
not provided [RCV003085005] |
Chr11:6616657 [GRCh38] Chr11:6637888 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1641C>G (p.Gly547=) |
single nucleotide variant |
not provided [RCV002802221] |
Chr11:6614597 [GRCh38] Chr11:6635828 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.509-7C>T |
single nucleotide variant |
not provided [RCV002626305] |
Chr11:6617160 [GRCh38] Chr11:6638391 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1591G>A (p.Val531Ile) |
single nucleotide variant |
not provided [RCV003084144] |
Chr11:6614647 [GRCh38] Chr11:6635878 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1232G>T (p.Gly411Val) |
single nucleotide variant |
not provided [RCV003056084] |
Chr11:6615476 [GRCh38] Chr11:6636707 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1438G>A (p.Val480Met) |
single nucleotide variant |
not provided [RCV003058627] |
Chr11:6614979 [GRCh38] Chr11:6636210 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.617del (p.Arg206fs) |
deletion |
not provided [RCV002644536] |
Chr11:6617045 [GRCh38] Chr11:6638276 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.614T>C (p.Ile205Thr) |
single nucleotide variant |
not provided [RCV002700969] |
Chr11:6617048 [GRCh38] Chr11:6638279 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1145+6T>C |
single nucleotide variant |
not provided [RCV002852478] |
Chr11:6615999 [GRCh38] Chr11:6637230 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1452C>T (p.Ile484=) |
single nucleotide variant |
not provided [RCV002894539] |
Chr11:6614965 [GRCh38] Chr11:6636196 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.702T>G (p.Tyr234Ter) |
single nucleotide variant |
not provided [RCV002801638] |
Chr11:6616845 [GRCh38] Chr11:6638076 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.9C>G (p.Leu3=) |
single nucleotide variant |
not provided [RCV002851248] |
Chr11:6619392 [GRCh38] Chr11:6640623 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1163T>C (p.Val388Ala) |
single nucleotide variant |
not provided [RCV002938451] |
Chr11:6615545 [GRCh38] Chr11:6636776 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.515G>A (p.Gly172Glu) |
single nucleotide variant |
not provided [RCV002580756] |
Chr11:6617147 [GRCh38] Chr11:6638378 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1670T>C (p.Leu557Pro) |
single nucleotide variant |
not provided [RCV003049341] |
Chr11:6614568 [GRCh38] Chr11:6635799 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.48T>C (p.Ser16=) |
single nucleotide variant |
not provided [RCV002856854] |
Chr11:6619237 [GRCh38] Chr11:6640468 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1545C>T (p.Leu515=) |
single nucleotide variant |
not provided [RCV003048922] |
Chr11:6614872 [GRCh38] Chr11:6636103 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.69G>C (p.Pro23=) |
single nucleotide variant |
not provided [RCV002676021] |
Chr11:6619216 [GRCh38] Chr11:6640447 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.990C>T (p.Asp330=) |
single nucleotide variant |
not provided [RCV002599823] |
Chr11:6616400 [GRCh38] Chr11:6637631 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1637C>T (p.Thr546Ile) |
single nucleotide variant |
not provided [RCV002578893] |
Chr11:6614601 [GRCh38] Chr11:6635832 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1157C>T (p.Thr386Ile) |
single nucleotide variant |
not provided [RCV003011337] |
Chr11:6615551 [GRCh38] Chr11:6636782 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.436A>T (p.Thr146Ser) |
single nucleotide variant |
not provided [RCV002672200] |
Chr11:6617373 [GRCh38] Chr11:6638604 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.365G>T (p.Cys122Phe) |
single nucleotide variant |
not provided [RCV002791659] |
Chr11:6617641 [GRCh38] Chr11:6638872 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.68C>A (p.Pro23Gln) |
single nucleotide variant |
not provided [RCV003088010] |
Chr11:6619217 [GRCh38] Chr11:6640448 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.984T>A (p.Asp328Glu) |
single nucleotide variant |
not provided [RCV002716962] |
Chr11:6616406 [GRCh38] Chr11:6637637 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.508+8C>T |
single nucleotide variant |
not provided [RCV002578771] |
Chr11:6617293 [GRCh38] Chr11:6638524 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.221C>T (p.Pro74Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003031069]|not provided [RCV003008522] |
Chr11:6618784 [GRCh38] Chr11:6640015 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.380G>T (p.Arg127Leu) |
single nucleotide variant |
not provided [RCV002627615] |
Chr11:6617626 [GRCh38] Chr11:6638857 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.204G>A (p.Val68=) |
single nucleotide variant |
not provided [RCV003044236] |
Chr11:6618801 [GRCh38] Chr11:6640032 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1613C>A (p.Ser538Tyr) |
single nucleotide variant |
not provided [RCV003062332] |
Chr11:6614625 [GRCh38] Chr11:6635856 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.74C>T (p.Pro25Leu) |
single nucleotide variant |
not provided [RCV002835298] |
Chr11:6619211 [GRCh38] Chr11:6640442 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1062G>A (p.Leu354=) |
single nucleotide variant |
not provided [RCV002832882] |
Chr11:6616328 [GRCh38] Chr11:6637559 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1156A>C (p.Thr386Pro) |
single nucleotide variant |
not provided [RCV002962330] |
Chr11:6615552 [GRCh38] Chr11:6636783 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1039G>C (p.Ala347Pro) |
single nucleotide variant |
not provided [RCV002670764] |
Chr11:6616351 [GRCh38] Chr11:6637582 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1303C>A (p.His435Asn) |
single nucleotide variant |
not provided [RCV002670778] |
Chr11:6615293 [GRCh38] Chr11:6636524 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1633G>T (p.Val545Leu) |
single nucleotide variant |
not provided [RCV003047977] |
Chr11:6614605 [GRCh38] Chr11:6635836 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1076-13del |
deletion |
not provided [RCV003065526] |
Chr11:6616087 [GRCh38] Chr11:6637318 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.966del (p.Thr322_Val323insTer) |
deletion |
not provided [RCV002832791] |
Chr11:6616424 [GRCh38] Chr11:6637655 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.226T>C (p.Tyr76His) |
single nucleotide variant |
not provided [RCV003092336] |
Chr11:6618779 [GRCh38] Chr11:6640010 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.550C>T (p.Gln184Ter) |
single nucleotide variant |
not provided [RCV003052135] |
Chr11:6617112 [GRCh38] Chr11:6638343 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.114G>C (p.Leu38=) |
single nucleotide variant |
not provided [RCV002653122] |
Chr11:6618891 [GRCh38] Chr11:6640122 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.230-17C>T |
single nucleotide variant |
not provided [RCV002634893] |
Chr11:6617793 [GRCh38] Chr11:6639024 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.128C>T (p.Pro43Leu) |
single nucleotide variant |
not provided [RCV003049493] |
Chr11:6618877 [GRCh38] Chr11:6640108 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.28C>T (p.Leu10Phe) |
single nucleotide variant |
not provided [RCV003050111] |
Chr11:6619257 [GRCh38] Chr11:6640488 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.623G>A (p.Arg208Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003162036]|not provided [RCV002633460] |
Chr11:6617039 [GRCh38] Chr11:6638270 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.489G>C (p.Leu163Phe) |
single nucleotide variant |
not provided [RCV002942981] |
Chr11:6617320 [GRCh38] Chr11:6638551 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.152T>C (p.Phe51Ser) |
single nucleotide variant |
not provided [RCV003070359] |
Chr11:6618853 [GRCh38] Chr11:6640084 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.789A>G (p.Gln263=) |
single nucleotide variant |
not provided [RCV002942509] |
Chr11:6616758 [GRCh38] Chr11:6637989 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.646G>A (p.Val216Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003230767]|not provided [RCV003069412] |
Chr11:6617016 [GRCh38] Chr11:6638247 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.772G>C (p.Ala258Pro) |
single nucleotide variant |
not provided [RCV003072069] |
Chr11:6616775 [GRCh38] Chr11:6638006 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1681C>T (p.Leu561Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003384320]|not provided [RCV003067655] |
Chr11:6614557 [GRCh38] Chr11:6635788 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1399C>G (p.Pro467Ala) |
single nucleotide variant |
not provided [RCV002588516] |
Chr11:6615197 [GRCh38] Chr11:6636428 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.635C>T (p.Thr212Ile) |
single nucleotide variant |
not provided [RCV002613140] |
Chr11:6617027 [GRCh38] Chr11:6638258 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.18-19C>G |
single nucleotide variant |
not provided [RCV002611197] |
Chr11:6619286 [GRCh38] Chr11:6640517 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.613A>G (p.Ile205Val) |
single nucleotide variant |
not provided [RCV003051678] |
Chr11:6617049 [GRCh38] Chr11:6638280 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.230-11A>T |
single nucleotide variant |
not provided [RCV002610294] |
Chr11:6617787 [GRCh38] Chr11:6639018 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.119G>T (p.Arg40Leu) |
single nucleotide variant |
not provided [RCV002612306] |
Chr11:6618886 [GRCh38] Chr11:6640117 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.89+12T>C |
single nucleotide variant |
not provided [RCV003066183] |
Chr11:6619184 [GRCh38] Chr11:6640415 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.13G>A (p.Ala5Thr) |
single nucleotide variant |
not provided [RCV002588098] |
Chr11:6619388 [GRCh38] Chr11:6640619 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1425+1G>A |
single nucleotide variant |
not provided [RCV003131758] |
Chr11:6615170 [GRCh38] Chr11:6636401 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.436A>G (p.Thr146Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003199866] |
Chr11:6617373 [GRCh38] Chr11:6638604 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.373A>G (p.Ser125Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003199449] |
Chr11:6617633 [GRCh38] Chr11:6638864 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1351G>A (p.Asp451Asn) |
single nucleotide variant |
not provided [RCV003141136] |
Chr11:6615245 [GRCh38] Chr11:6636476 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.545T>C (p.Leu182Pro) |
single nucleotide variant |
not provided [RCV003141137] |
Chr11:6617117 [GRCh38] Chr11:6638348 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1334G>A (p.Ser445Asn) |
single nucleotide variant |
not provided [RCV003141138] |
Chr11:6615262 [GRCh38] Chr11:6636493 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.295G>A (p.Val99Met) |
single nucleotide variant |
not provided [RCV003141139] |
Chr11:6617711 [GRCh38] Chr11:6638942 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.230-2A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV003226105] |
Chr11:6617778 [GRCh38] Chr11:6639009 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.889C>G (p.Arg297Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003286456] |
Chr11:6616501 [GRCh38] Chr11:6637732 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1679T>C (p.Leu560Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV003340778] |
Chr11:6614559 [GRCh38] Chr11:6635790 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.30C>G (p.Leu10=) |
single nucleotide variant |
not provided [RCV003543133] |
Chr11:6619255 [GRCh38] Chr11:6640486 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1075+9C>T |
single nucleotide variant |
not provided [RCV003570093] |
Chr11:6616306 [GRCh38] Chr11:6637537 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.687+15G>A |
single nucleotide variant |
not provided [RCV003570803] |
Chr11:6616960 [GRCh38] Chr11:6638191 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.382C>T (p.Gln128Ter) |
single nucleotide variant |
not provided [RCV003571752] |
Chr11:6617427 [GRCh38] Chr11:6638658 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.957T>C (p.His319=) |
single nucleotide variant |
not provided [RCV003570595] |
Chr11:6616433 [GRCh38] Chr11:6637664 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1467T>C (p.Asn489=) |
single nucleotide variant |
not provided [RCV003569163] |
Chr11:6614950 [GRCh38] Chr11:6636181 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1194C>G (p.Leu398=) |
single nucleotide variant |
not provided [RCV003571088] |
Chr11:6615514 [GRCh38] Chr11:6636745 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.687+17G>T |
single nucleotide variant |
not provided [RCV003571319] |
Chr11:6616958 [GRCh38] Chr11:6638189 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.273A>G (p.Pro91=) |
single nucleotide variant |
not provided [RCV003569933] |
Chr11:6617733 [GRCh38] Chr11:6638964 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.285C>T (p.Thr95=) |
single nucleotide variant |
not provided [RCV003543661] |
Chr11:6617721 [GRCh38] Chr11:6638952 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1266_1266+1delinsTACAAACAAACA |
indel |
Neuronal ceroid lipofuscinosis 2 [RCV003388905] |
Chr11:6615441..6615442 [GRCh38] Chr11:6636672..6636673 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.86G>A (p.Arg29Lys) |
single nucleotide variant |
not provided [RCV003482001] |
Chr11:6619199 [GRCh38] Chr11:6640430 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.1450dup (p.Ile484fs) |
duplication |
Neuronal ceroid lipofuscinosis 2 [RCV003388907] |
Chr11:6614966..6614967 [GRCh38] Chr11:6636197..6636198 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.419del (p.His140fs) |
deletion |
not provided [RCV003691431] |
Chr11:6617390 [GRCh38] Chr11:6638621 [GRCh37] Chr11:11p15.4 |
pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 |
copy number gain |
Russell-Silver syndrome [RCV003444025] |
Chr11:230615..8821443 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_000391.4(TPP1):c.182_184delinsC (p.Leu61fs) |
indel |
Neuronal ceroid lipofuscinosis 2 [RCV003388906] |
Chr11:6618821..6618823 [GRCh38] Chr11:6640052..6640054 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.90-22_90-16dup |
duplication |
not provided [RCV003572288] |
Chr11:6618930..6618931 [GRCh38] Chr11:6640161..6640162 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.24A>C (p.Leu8=) |
single nucleotide variant |
not provided [RCV003739020] |
Chr11:6619261 [GRCh38] Chr11:6640492 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.17+13G>C |
single nucleotide variant |
not provided [RCV003578861] |
Chr11:6619371 [GRCh38] Chr11:6640602 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1551+18G>A |
single nucleotide variant |
not provided [RCV003696651] |
Chr11:6614848 [GRCh38] Chr11:6636079 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.496dup (p.His166fs) |
duplication |
not provided [RCV003577107] |
Chr11:6617312..6617313 [GRCh38] Chr11:6638543..6638544 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1076-4T>C |
single nucleotide variant |
not provided [RCV003696515] |
Chr11:6616078 [GRCh38] Chr11:6637309 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.288_289dup (p.His97fs) |
duplication |
not provided [RCV003578400] |
Chr11:6617716..6617717 [GRCh38] Chr11:6638947..6638948 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.900A>T (p.Gly300=) |
single nucleotide variant |
not provided [RCV003740341] |
Chr11:6616490 [GRCh38] Chr11:6637721 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1146-17C>T |
single nucleotide variant |
not provided [RCV003828547] |
Chr11:6615579 [GRCh38] Chr11:6636810 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1398G>T (p.Val466=) |
single nucleotide variant |
not provided [RCV003692823] |
Chr11:6615198 [GRCh38] Chr11:6636429 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.380+19T>C |
single nucleotide variant |
not provided [RCV003577974] |
Chr11:6617607 [GRCh38] Chr11:6638838 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1167A>T (p.Gly389=) |
single nucleotide variant |
not provided [RCV003577010] |
Chr11:6615541 [GRCh38] Chr11:6636772 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1011C>T (p.Ile337=) |
single nucleotide variant |
not provided [RCV003693797] |
Chr11:6616379 [GRCh38] Chr11:6637610 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1367C>A (p.Ser456Tyr) |
single nucleotide variant |
not specified [RCV003488822] |
Chr11:6615229 [GRCh38] Chr11:6636460 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.229+16G>A |
single nucleotide variant |
not provided [RCV003875721] |
Chr11:6618760 [GRCh38] Chr11:6639991 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.886+15A>G |
single nucleotide variant |
not provided [RCV003687108] |
Chr11:6616646 [GRCh38] Chr11:6637877 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.492C>T (p.Ala164=) |
single nucleotide variant |
not provided [RCV003577375] |
Chr11:6617317 [GRCh38] Chr11:6638548 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1083T>C (p.Ser361=) |
single nucleotide variant |
not provided [RCV003544666] |
Chr11:6616067 [GRCh38] Chr11:6637298 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.806_810del (p.Ala269fs) |
microsatellite |
not provided [RCV003576283] |
Chr11:6616737..6616741 [GRCh38] Chr11:6637968..6637972 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.1545C>A (p.Leu515=) |
single nucleotide variant |
not provided [RCV003577154] |
Chr11:6614872 [GRCh38] Chr11:6636103 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.230-6C>T |
single nucleotide variant |
not provided [RCV003694897] |
Chr11:6617782 [GRCh38] Chr11:6639013 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.886+9A>G |
single nucleotide variant |
not provided [RCV003689540] |
Chr11:6616652 [GRCh38] Chr11:6637883 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.688-16C>A |
single nucleotide variant |
not provided [RCV003577337] |
Chr11:6616875 [GRCh38] Chr11:6638106 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1491C>T (p.Arg497=) |
single nucleotide variant |
not provided [RCV003574572] |
Chr11:6614926 [GRCh38] Chr11:6636157 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1146-17C>G |
single nucleotide variant |
not provided [RCV003661485] |
Chr11:6615579 [GRCh38] Chr11:6636810 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1145+19C>G |
single nucleotide variant |
not provided [RCV003689141] |
Chr11:6615986 [GRCh38] Chr11:6637217 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.933C>T (p.Leu311=) |
single nucleotide variant |
not provided [RCV003879169] |
Chr11:6616457 [GRCh38] Chr11:6637688 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1266+20T>A |
single nucleotide variant |
not provided [RCV003663344] |
Chr11:6615422 [GRCh38] Chr11:6636653 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1575C>A (p.Ser525=) |
single nucleotide variant |
not provided [RCV003660076] |
Chr11:6614663 [GRCh38] Chr11:6635894 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1245G>A (p.Val415=) |
single nucleotide variant |
not provided [RCV003686995] |
Chr11:6615463 [GRCh38] Chr11:6636694 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1076-11G>T |
single nucleotide variant |
not provided [RCV003692225] |
Chr11:6616085 [GRCh38] Chr11:6637316 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1146-199G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 2 [RCV003486538] |
Chr11:6615761 [GRCh38] Chr11:6636992 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.351G>A (p.Gln117=) |
single nucleotide variant |
not provided [RCV003572548] |
Chr11:6617655 [GRCh38] Chr11:6638886 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.9C>T (p.Leu3=) |
single nucleotide variant |
not provided [RCV003546137] |
Chr11:6619392 [GRCh38] Chr11:6640623 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1551+1del |
deletion |
not provided [RCV003687384] |
Chr11:6614865 [GRCh38] Chr11:6636096 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000391.4(TPP1):c.246A>G (p.Leu82=) |
single nucleotide variant |
not provided [RCV003691869] |
Chr11:6617760 [GRCh38] Chr11:6638991 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1401C>T (p.Pro467=) |
single nucleotide variant |
not provided [RCV003687698] |
Chr11:6615195 [GRCh38] Chr11:6636426 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.747C>A (p.Gly249=) |
single nucleotide variant |
not provided [RCV003688481] |
Chr11:6616800 [GRCh38] Chr11:6638031 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1518G>A (p.Arg506=) |
single nucleotide variant |
not provided [RCV003692416] |
Chr11:6614899 [GRCh38] Chr11:6636130 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1425+17C>T |
single nucleotide variant |
not provided [RCV003713829] |
Chr11:6615154 [GRCh38] Chr11:6636385 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.291C>T (p.His97=) |
single nucleotide variant |
not provided [RCV003547921] |
Chr11:6617715 [GRCh38] Chr11:6638946 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.960G>A (p.Val320=) |
single nucleotide variant |
not provided [RCV003825006] |
Chr11:6616430 [GRCh38] Chr11:6637661 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1075+8C>A |
single nucleotide variant |
not provided [RCV003714061] |
Chr11:6616307 [GRCh38] Chr11:6637538 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.687+2T>A |
single nucleotide variant |
not provided [RCV003692849] |
Chr11:6616973 [GRCh38] Chr11:6638204 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000391.4(TPP1):c.1425+13C>G |
single nucleotide variant |
not provided [RCV003692877] |
Chr11:6615158 [GRCh38] Chr11:6636389 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.508+9T>A |
single nucleotide variant |
not provided [RCV003713926] |
Chr11:6617292 [GRCh38] Chr11:6638523 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1623C>T (p.Gly541=) |
single nucleotide variant |
not provided [RCV003572215] |
Chr11:6614615 [GRCh38] Chr11:6635846 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.90-17G>C |
single nucleotide variant |
not provided [RCV003545420] |
Chr11:6618932 [GRCh38] Chr11:6640163 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.993C>A (p.Ser331=) |
single nucleotide variant |
not provided [RCV003548055] |
Chr11:6616397 [GRCh38] Chr11:6637628 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1416C>A (p.Ser472=) |
single nucleotide variant |
not provided [RCV003688303] |
Chr11:6615180 [GRCh38] Chr11:6636411 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.201T>C (p.Ala67=) |
single nucleotide variant |
not provided [RCV003715912] |
Chr11:6618804 [GRCh38] Chr11:6640035 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.378C>T (p.Ile126=) |
single nucleotide variant |
not provided [RCV003665269] |
Chr11:6617628 [GRCh38] Chr11:6638859 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.837C>T (p.Tyr279=) |
single nucleotide variant |
not provided [RCV003580414] |
Chr11:6616710 [GRCh38] Chr11:6637941 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1551+12A>G |
single nucleotide variant |
not provided [RCV003580411] |
Chr11:6614854 [GRCh38] Chr11:6636085 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1188T>C (p.Pro396=) |
single nucleotide variant |
not provided [RCV003580586] |
Chr11:6615520 [GRCh38] Chr11:6636751 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1314A>G (p.Pro438=) |
single nucleotide variant |
not provided [RCV003580697] |
Chr11:6615282 [GRCh38] Chr11:6636513 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1255C>G (p.Pro419Ala) |
single nucleotide variant |
not provided [RCV003811376] |
Chr11:6615453 [GRCh38] Chr11:6636684 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000391.4(TPP1):c.987G>A (p.Glu329=) |
single nucleotide variant |
not provided [RCV003658961] |
Chr11:6616403 [GRCh38] Chr11:6637634 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.282G>C (p.Leu94=) |
single nucleotide variant |
not provided [RCV003740457] |
Chr11:6617724 [GRCh38] Chr11:6638955 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.89+15C>T |
single nucleotide variant |
not provided [RCV003659019] |
Chr11:6619181 [GRCh38] Chr11:6640412 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.687+19C>T |
single nucleotide variant |
not provided [RCV003548170] |
Chr11:6616956 [GRCh38] Chr11:6638187 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000391.4(TPP1):c.1552-13G>A |
single nucleotide variant |
not provided [RCV003697141] |
Chr11:6614699 [GRCh38] Chr11:6635930 [GRCh37] Chr11:11p15.4 |
likely benign |