| NC_000016.10:g.(?_28486327)_(28486670_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV000542181] |
Chr16:28486327..28486670 [GRCh38]
Chr16:28497648..28497991 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.239C>T (p.Thr80Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001116110]|Neuronal ceroid lipofuscinosis [RCV001247783]|not provided [RCV000521226] |
Chr16:28488646 [GRCh38]
Chr16:28499967 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.294+7A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001494631] |
Chr16:28488584 [GRCh38]
Chr16:28499905 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.89A>G (p.His30Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000546992] |
Chr16:28491518 [GRCh38]
Chr16:28502839 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.147C>G (p.Asn49Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001526712]|Neuronal ceroid lipofuscinosis [RCV001873711] |
Chr16:28489365 [GRCh38]
Chr16:28500686 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.461-280_677+382del |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV000003731]|Retinitis pigmentosa [RCV003324482]|not provided [RCV000724164] |
Chr16:28485965..28486930 [GRCh38]
Chr16:28497286..28498251 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NG_008654.2:g.(13298_14630)_(15199_19425)del |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV000003732] |
Chr16:16p12.1 |
pathogenic |
| NG_008654.2:g.(9848_10812)_(19800_19939)del |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV000003733] |
Chr16:16p12.1 |
pathogenic |
| CLN3, IVSDS, G-C, +1/76-BP DEL |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000003734] |
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.126-4C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000547606] |
Chr16:28489390 [GRCh38]
Chr16:28500711 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.375-19_375-4dup |
duplication |
Inborn genetic diseases [RCV002350194]|Neuronal ceroid lipofuscinosis [RCV000524588]|not specified [RCV000603440] |
Chr16:28487544..28487545 [GRCh38]
Chr16:28498865..28498866 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 3, protracted [RCV000003735]|Inborn genetic diseases [RCV002512720]|Neuronal ceroid lipofuscinosis 3 [RCV000055839]|Neuronal ceroid lipofuscinosis [RCV000811923]|Retinal dystrophy [RCV001074385]|early onset and severe retinal dystrophy [RCV001270479] |
Chr16:28482500 [GRCh38]
Chr16:28493821 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 3, protracted [RCV000003736]|Neuronal ceroid lipofuscinosis 3 [RCV000169443]|Neuronal ceroid lipofuscinosis [RCV000823290]|not provided [RCV000760368] |
Chr16:28486427 [GRCh38]
Chr16:28497748 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049655]|Neuronal ceroid lipofuscinosis [RCV000588369] |
Chr16:28482161 [GRCh38]
Chr16:28493482 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.1001G>A (p.Arg334His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049656]|Neuronal ceroid lipofuscinosis [RCV000696638] |
Chr16:28482160 [GRCh38]
Chr16:28493481 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.1048del (p.Leu350fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV000049657]|Neuronal ceroid lipofuscinosis [RCV001853040] |
Chr16:28482113 [GRCh38]
Chr16:28493434 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049658]|Neuronal ceroid lipofuscinosis [RCV001804785]|not provided [RCV000579238] |
Chr16:28482107 [GRCh38]
Chr16:28493428 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.1056+3A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049659]|Neuronal ceroid lipofuscinosis [RCV000819629] |
Chr16:28482102 [GRCh38]
Chr16:28493423 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.1056G>C (p.Gln352His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049660] |
Chr16:28482105 [GRCh38]
Chr16:28493426 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049661]|Neuronal ceroid lipofuscinosis [RCV001217036]|not provided [RCV000760369] |
Chr16:28491502 [GRCh38]
Chr16:28502823 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049662]|not provided [RCV001091646] |
Chr16:28477739 [GRCh38]
Chr16:28489060 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.1198-1G>T |
single nucleotide variant |
Inborn genetic diseases [RCV002336200]|Neuronal ceroid lipofuscinosis 3 [RCV000049663]|Neuronal ceroid lipofuscinosis [RCV001380722] |
Chr16:28477636 [GRCh38]
Chr16:28488957 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049664]|Neuronal ceroid lipofuscinosis [RCV003317069] |
Chr16:28477586 [GRCh38]
Chr16:28488907 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.125+5G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049665]|Neuronal ceroid lipofuscinosis [RCV001051149] |
Chr16:28491477 [GRCh38]
Chr16:28502798 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001042432.2(CLN3):c.126-1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049666] |
Chr16:28489387 [GRCh38]
Chr16:28500708 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049667] |
Chr16:28477565 [GRCh38]
Chr16:28488886 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.1272del (p.Leu425fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV000049668] |
Chr16:28477561 [GRCh38]
Chr16:28488882 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.1A>C (p.Met1Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049669]|Neuronal ceroid lipofuscinosis [RCV002513684] |
Chr16:28491759 [GRCh38]
Chr16:28503080 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049670]|Neuronal ceroid lipofuscinosis [RCV000812617] |
Chr16:28489298 [GRCh38]
Chr16:28500619 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.222+2T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049671] |
Chr16:28489288 [GRCh38]
Chr16:28500609 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.222+5G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049672]|Neuronal ceroid lipofuscinosis [RCV002513685] |
Chr16:28489285 [GRCh38]
Chr16:28500606 [GRCh37]
Chr16:16p12.1 |
likely pathogenic|uncertain significance |
| NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002426609]|Neuronal ceroid lipofuscinosis 3 [RCV000049674]|Neuronal ceroid lipofuscinosis [RCV001199876] |
Chr16:28488620 [GRCh38]
Chr16:28499941 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.302T>C (p.Leu101Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049675] |
Chr16:28487734 [GRCh38]
Chr16:28499055 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.370dup (p.Tyr124fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV000049676]|Neuronal ceroid lipofuscinosis [RCV001853041] |
Chr16:28487665..28487666 [GRCh38]
Chr16:28498986..28498987 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.374G>A (p.Ser125Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049677]|Neuronal ceroid lipofuscinosis [RCV001360565] |
Chr16:28487662 [GRCh38]
Chr16:28498983 [GRCh37]
Chr16:16p12.1 |
likely pathogenic|uncertain significance |
| NM_001042432.2(CLN3):c.378_379dup (p.Arg127fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV000049678] |
Chr16:28487536..28487537 [GRCh38]
Chr16:28498857..28498858 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.379del (p.Arg127fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV000049679]|Neuronal ceroid lipofuscinosis [RCV001384516]|Retinitis pigmentosa [RCV000678540] |
Chr16:28487537 [GRCh38]
Chr16:28498858 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.400T>C (p.Cys134Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049680]|Neuronal ceroid lipofuscinosis [RCV001040790] |
Chr16:28487516 [GRCh38]
Chr16:28498837 [GRCh37]
Chr16:16p12.1 |
likely pathogenic|uncertain significance |
| NM_001042432.2(CLN3):c.424del (p.Val142fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV000049681]|Neuronal ceroid lipofuscinosis [RCV000819681] |
Chr16:28487492 [GRCh38]
Chr16:28498813 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001042432.2(CLN3):c.461-13G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049682] |
Chr16:28486663 [GRCh38]
Chr16:28497984 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.461-1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049683]|Neuronal ceroid lipofuscinosis [RCV001853042] |
Chr16:28486651 [GRCh38]
Chr16:28497972 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.461-1G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049684] |
Chr16:28486651 [GRCh38]
Chr16:28497972 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.472G>C (p.Ala158Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049685] |
Chr16:28486639 [GRCh38]
Chr16:28497960 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.482C>G (p.Ser161Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049686] |
Chr16:28486629 [GRCh38]
Chr16:28497950 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049687] |
Chr16:28486626 [GRCh38]
Chr16:28497947 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.49G>T (p.Glu17Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049688] |
Chr16:28491558 [GRCh38]
Chr16:28502879 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.509T>C (p.Leu170Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049689] |
Chr16:28486602 [GRCh38]
Chr16:28497923 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.533+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049690]|Retinal dystrophy [RCV001075762] |
Chr16:28486577 [GRCh38]
Chr16:28497898 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.533+1G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049691]|Neuronal ceroid lipofuscinosis [RCV001853043] |
Chr16:28486577 [GRCh38]
Chr16:28497898 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.558_559del (p.Gly187fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV000049692]|Neuronal ceroid lipofuscinosis [RCV001853044] |
Chr16:28486465..28486466 [GRCh38]
Chr16:28497786..28497787 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.560G>C (p.Gly187Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049693] |
Chr16:28486464 [GRCh38]
Chr16:28497785 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049694]|Neuronal ceroid lipofuscinosis [RCV001853045] |
Chr16:28486459 [GRCh38]
Chr16:28497780 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.569del (p.Gly190fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV000049695] |
Chr16:28486455 [GRCh38]
Chr16:28497776 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049696]|Neuronal ceroid lipofuscinosis [RCV001853046]|Retinal dystrophy [RCV001074456]|not provided [RCV000675977] |
Chr16:28486449 [GRCh38]
Chr16:28497770 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001042432.2(CLN3):c.582G>T (p.Leu194=) |
single nucleotide variant |
CLN3-related condition [RCV003964906]|Neuronal ceroid lipofuscinosis 3 [RCV000049697]|Neuronal ceroid lipofuscinosis [RCV001079185]|not provided [RCV000977073] |
Chr16:28486442 [GRCh38]
Chr16:28497763 [GRCh37]
Chr16:16p12.1 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001042432.2(CLN3):c.586dup (p.Ala196fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV000049698] |
Chr16:28486437..28486438 [GRCh38]
Chr16:28497758..28497759 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.622dup (p.Ser208fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV000049699]|Neuronal ceroid lipofuscinosis [RCV000555143] |
Chr16:28486401..28486402 [GRCh38]
Chr16:28497722..28497723 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049700]|Neuronal ceroid lipofuscinosis [RCV001239013] |
Chr16:28486393 [GRCh38]
Chr16:28497714 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.790+3A>C |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 3, protracted [RCV000625880]|Neuronal ceroid lipofuscinosis 3 [RCV000049701]|Neuronal ceroid lipofuscinosis [RCV001087503]|not provided [RCV000187036]|not specified [RCV001797616] |
Chr16:28484003 [GRCh38]
Chr16:28495324 [GRCh37]
Chr16:16p12.1 |
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049702]|Neuronal ceroid lipofuscinosis [RCV001055217]|not provided [RCV001552759] |
Chr16:28482500 [GRCh38]
Chr16:28493821 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.906+5G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049703] |
Chr16:28482472 [GRCh38]
Chr16:28493793 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.944dup (p.His315fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV000049704]|Neuronal ceroid lipofuscinosis [RCV000477605] |
Chr16:28482344..28482345 [GRCh38]
Chr16:28493665..28493666 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.954_962+18del |
deletion |
Inborn genetic diseases [RCV002381352]|Neuronal ceroid lipofuscinosis 3 [RCV000049705]|Neuronal ceroid lipofuscinosis [RCV001035044]|not provided [RCV003326342] |
Chr16:28482309..28482335 [GRCh38]
Chr16:28493630..28493656 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.963-1G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049706] |
Chr16:28482199 [GRCh38]
Chr16:28493520 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.979C>T (p.Gln327Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049707] |
Chr16:28482182 [GRCh38]
Chr16:28493503 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.988G>T (p.Val330Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000049708]|Neuronal ceroid lipofuscinosis [RCV001378302] |
Chr16:28482173 [GRCh38]
Chr16:28493494 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 |
copy number gain |
See cases [RCV000051829] |
Chr16:21463739..29249579 [GRCh38]
Chr16:21475060..29260900 [GRCh37]
Chr16:21382561..29168401 [NCBI36]
Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 |
copy number gain |
See cases [RCV000051842] |
Chr16:21602183..29314373 [GRCh38]
Chr16:21613504..29325694 [GRCh37]
Chr16:21521005..29233195 [NCBI36]
Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 |
copy number gain |
See cases [RCV000052401] |
Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1 |
copy number loss |
See cases [RCV000052520] |
Chr16:28456967..30295107 [GRCh38]
Chr16:28468288..30306428 [GRCh37]
Chr16:28375789..30213929 [NCBI36]
Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3 |
copy number gain |
See cases [RCV000053118] |
Chr16:28293803..29531653 [GRCh38]
Chr16:28305124..29542974 [GRCh37]
Chr16:28212625..29450475 [NCBI36]
Chr16:16p12.1-11.2 |
uncertain significance |
| GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3 |
copy number gain |
See cases [RCV000054346] |
Chr16:28366111..30183432 [GRCh38]
Chr16:28377432..30194753 [GRCh37]
Chr16:28284933..30102254 [NCBI36]
Chr16:16p12.1-11.2 |
pathogenic|uncertain significance |
| GRCh38/hg38 16p12.1-11.2(chr16:28061312-28584375)x3 |
copy number gain |
See cases [RCV000053862] |
Chr16:28061312..28584375 [GRCh38]
Chr16:28072633..28595696 [GRCh37]
Chr16:27980134..28503197 [NCBI36]
Chr16:16p12.1-11.2 |
uncertain significance |
| NM_001042432.2(CLN3):c.233dup (p.Thr80fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV000049673]|Neuronal ceroid lipofuscinosis [RCV003531947] |
Chr16:28488651..28488652 [GRCh38]
Chr16:28499972..28499973 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.768C>T (p.Thr256=) |
single nucleotide variant |
Inborn genetic diseases [RCV002399470]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000324671]|Neuronal ceroid lipofuscinosis 3 [RCV001027945]|Neuronal ceroid lipofuscinosis [RCV001082887]|not provided [RCV000711257]|not specified [RCV000186619] |
Chr16:28484028 [GRCh38]
Chr16:28495349 [GRCh37]
Chr16:16p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_001042432.2(CLN3):c.371_372insT (p.Ser125fs) |
insertion |
Neuronal ceroid lipofuscinosis 3 [RCV000087084] |
Chr16:28487664..28487665 [GRCh38]
Chr16:28498985..28498986 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002313869]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000274494]|Neuronal ceroid lipofuscinosis 3 [RCV001116001]|Neuronal ceroid lipofuscinosis [RCV001081596]|not provided [RCV000223968]|not specified [RCV000116748] |
Chr16:28477623 [GRCh38]
Chr16:28488944 [GRCh37]
Chr16:16p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002312072]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000371392]|Neuronal ceroid lipofuscinosis 3 [RCV001116000]|Neuronal ceroid lipofuscinosis [RCV001522304]|not provided [RCV000675975]|not specified [RCV000116749] |
Chr16:28477622 [GRCh38]
Chr16:28488943 [GRCh37]
Chr16:16p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002312073]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000367477]|Neuronal ceroid lipofuscinosis 3 [RCV001121027]|Neuronal ceroid lipofuscinosis [RCV000233306]|not specified [RCV000116750] |
Chr16:28487723 [GRCh38]
Chr16:28499044 [GRCh37]
Chr16:16p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001042432.2(CLN3):c.831G>A (p.Val277=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312824]|Neuronal ceroid lipofuscinosis 3 [RCV001117455]|Neuronal ceroid lipofuscinosis [RCV001083119]|not provided [RCV000725520]|not specified [RCV000124313] |
Chr16:28482632 [GRCh38]
Chr16:28493953 [GRCh37]
Chr16:16p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001042432.2(CLN3):c.963-16C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001438452]|not specified [RCV000124314] |
Chr16:28482214 [GRCh38]
Chr16:28493535 [GRCh37]
Chr16:16p12.1 |
benign|likely benign |
| NM_001042432.2(CLN3):c.975G>A (p.Leu325=) |
single nucleotide variant |
Inborn genetic diseases [RCV002381437]|Neuronal ceroid lipofuscinosis [RCV000530616]|not provided [RCV003422010]|not specified [RCV000124315] |
Chr16:28482186 [GRCh38]
Chr16:28493507 [GRCh37]
Chr16:16p12.1 |
benign|likely benign |
| NM_001042432.2(CLN3):c.45G>A (p.Glu15=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312825]|Neuronal ceroid lipofuscinosis 3 [RCV001116115]|Neuronal ceroid lipofuscinosis [RCV000457718]|not provided [RCV001579962]|not specified [RCV000186617] |
Chr16:28491715 [GRCh38]
Chr16:28503036 [GRCh37]
Chr16:16p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_001042432.2(CLN3):c.1197+8T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000462898]|not specified [RCV000124317] |
Chr16:28477729 [GRCh38]
Chr16:28489050 [GRCh37]
Chr16:16p12.1 |
benign|likely benign |
| NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) |
single nucleotide variant |
CLN3-related condition [RCV003905195]|Inborn genetic diseases [RCV002362755]|Neuronal ceroid lipofuscinosis 3 [RCV001120931]|Neuronal ceroid lipofuscinosis [RCV001084677]|not provided [RCV000723896]|not specified [RCV000186618] |
Chr16:28477603 [GRCh38]
Chr16:28488924 [GRCh37]
Chr16:16p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_001042432.2(CLN3):c.174C>T (p.Ala58=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316352]|Neuronal ceroid lipofuscinosis [RCV000863867]|not provided [RCV003407533]|not specified [RCV000124321] |
Chr16:28489338 [GRCh38]
Chr16:28500659 [GRCh37]
Chr16:16p12.1 |
benign|likely benign |
| NM_001042432.2(CLN3):c.295-17C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002055469]|not specified [RCV000124322] |
Chr16:28487758 [GRCh38]
Chr16:28499079 [GRCh37]
Chr16:16p12.1 |
benign|likely benign |
| NM_001042432.2(CLN3):c.318C>T (p.Leu106=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312549]|Neuronal ceroid lipofuscinosis 3 [RCV001121026]|Neuronal ceroid lipofuscinosis [RCV000476169]|not specified [RCV000179366] |
Chr16:28487718 [GRCh38]
Chr16:28499039 [GRCh37]
Chr16:16p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001042432.2(CLN3):c.516C>T (p.Leu172=) |
single nucleotide variant |
Inborn genetic diseases [RCV002336272]|Neuronal ceroid lipofuscinosis 3 [RCV001119060]|Neuronal ceroid lipofuscinosis [RCV000528208]|not provided [RCV001701675]|not specified [RCV000124325] |
Chr16:28486595 [GRCh38]
Chr16:28497916 [GRCh37]
Chr16:16p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001042432.2(CLN3):c.771G>A (p.Glu257=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316353]|Neuronal ceroid lipofuscinosis [RCV000553688]|not provided [RCV001579754]|not specified [RCV000124326] |
Chr16:28484025 [GRCh38]
Chr16:28495346 [GRCh37]
Chr16:16p12.1 |
benign|likely benign |
| NM_001042432.2(CLN3):c.790+16C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001271266]|not specified [RCV000124327] |
Chr16:28483990 [GRCh38]
Chr16:28495311 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.678-2A>G |
single nucleotide variant |
not provided [RCV001310327] |
Chr16:28484120 [GRCh38]
Chr16:28495441 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.460+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002545033]|not provided [RCV001310328] |
Chr16:28487455 [GRCh38]
Chr16:28498776 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.-2C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002434388]|not provided [RCV000999528] |
Chr16:28491761 [GRCh38]
Chr16:28503082 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.240G>A (p.Thr80=) |
single nucleotide variant |
CLN3-related condition [RCV003937617]|Inborn genetic diseases [RCV002444715]|Neuronal ceroid lipofuscinosis 3 [RCV001121030]|Neuronal ceroid lipofuscinosis [RCV000632759]|not provided [RCV001701543]|not specified [RCV000178827] |
Chr16:28488645 [GRCh38]
Chr16:28499966 [GRCh37]
Chr16:16p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001042432.2(CLN3):c.1127del (p.Leu376fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV001291631] |
Chr16:28477807 [GRCh38]
Chr16:28489128 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.534-1G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003104286] |
Chr16:28486491 [GRCh38]
Chr16:28497812 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.754C>T (p.Pro252Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001117458]|Neuronal ceroid lipofuscinosis [RCV001245519]|not provided [RCV000724529] |
Chr16:28484042 [GRCh38]
Chr16:28495363 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.776C>T (p.Pro259Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002408754]|Neuronal ceroid lipofuscinosis 3 [RCV001785488]|Neuronal ceroid lipofuscinosis [RCV000532111]|not provided [RCV000173724] |
Chr16:28484020 [GRCh38]
Chr16:28495341 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 |
copy number gain |
See cases [RCV000133809] |
Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.1163C>T (p.Ala388Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002313033]|Neuronal ceroid lipofuscinosis 3 [RCV001785489]|Neuronal ceroid lipofuscinosis [RCV001218131]|not provided [RCV000723989] |
Chr16:28477771 [GRCh38]
Chr16:28489092 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 |
copy number gain |
See cases [RCV000135594] |
Chr16:22634385..29227323 [GRCh38]
Chr16:22645706..29238644 [GRCh37]
Chr16:22553207..29146145 [NCBI36]
Chr16:16p12.2-11.2 |
likely pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28487211-29202837)x3 |
copy number gain |
See cases [RCV000137571] |
Chr16:28487211..29202837 [GRCh38]
Chr16:28498532..29214158 [GRCh37]
Chr16:28406033..29121659 [NCBI36]
Chr16:16p12.1-11.2 |
uncertain significance |
| GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1 |
copy number loss |
See cases [RCV000137580] |
Chr16:28392832..30186020 [GRCh38]
Chr16:28404153..30197341 [GRCh37]
Chr16:28311654..30104842 [NCBI36]
Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28327346-29342070)x1 |
copy number loss |
See cases [RCV000137848] |
Chr16:28327346..29342070 [GRCh38]
Chr16:28338667..29353391 [GRCh37]
Chr16:28246168..29260892 [NCBI36]
Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1 |
copy number loss |
See cases [RCV000137949] |
Chr16:28392832..29342070 [GRCh38]
Chr16:28404153..29353391 [GRCh37]
Chr16:28311654..29260892 [NCBI36]
Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28392026-29170879)x3 |
copy number gain |
See cases [RCV000139217] |
Chr16:28392026..29170879 [GRCh38]
Chr16:28403347..29182200 [GRCh37]
Chr16:28310848..29089701 [NCBI36]
Chr16:16p12.1-11.2 |
uncertain significance |
| GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 |
copy number gain |
See cases [RCV000140235] |
Chr16:21350622..29202837 [GRCh38]
Chr16:21361943..29214158 [GRCh37]
Chr16:21269444..29121659 [NCBI36]
Chr16:16p12.2-11.2 |
likely pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1 |
copy number loss |
See cases [RCV000139916] |
Chr16:28392832..30320693 [GRCh38]
Chr16:28404153..30332014 [GRCh37]
Chr16:28311654..30239515 [NCBI36]
Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 |
copy number gain |
See cases [RCV000140341] |
Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28392832-29320029)x1 |
copy number loss |
See cases [RCV000139466] |
Chr16:28392832..29320029 [GRCh38]
Chr16:28404153..29331350 [GRCh37]
Chr16:28311654..29238851 [NCBI36]
Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 |
copy number gain |
See cases [RCV000141141] |
Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28392832-29170875)x1 |
copy number loss |
See cases [RCV000140694] |
Chr16:28392832..29170875 [GRCh38]
Chr16:28404153..29182196 [GRCh37]
Chr16:28311654..29089697 [NCBI36]
Chr16:16p12.1-11.2 |
pathogenic |
| GRCh38/hg38 16p12.1-11.2(chr16:28320366-29415078)x3 |
copy number gain |
See cases [RCV000141716] |
Chr16:28320366..29415078 [GRCh38]
Chr16:28331687..29426399 [GRCh37]
Chr16:28239188..29333900 [NCBI36]
Chr16:16p12.1-11.2 |
uncertain significance |
| NM_001042432.2(CLN3):c.494G>A (p.Gly165Glu) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 3, protracted [RCV000162326] |
Chr16:28486617 [GRCh38]
Chr16:28497938 [GRCh37]
Chr16:16p12.1 |
pathogenic|not provided |
| NM_001042432.2(CLN3):c.240del (p.Pro81fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV001729499]|Neuronal ceroid lipofuscinosis [RCV002282095]|not provided [RCV000255009] |
Chr16:28488645 [GRCh38]
Chr16:28499966 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002426857]|Neuronal ceroid lipofuscinosis 3 [RCV000765283]|Neuronal ceroid lipofuscinosis [RCV000632679]|not provided [RCV000178825] |
Chr16:28488615 [GRCh38]
Chr16:28499936 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.250C>A (p.His84Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002517744]|Neuronal ceroid lipofuscinosis 3 [RCV001785492]|Neuronal ceroid lipofuscinosis [RCV000701562]|not provided [RCV000724494] |
Chr16:28488635 [GRCh38]
Chr16:28499956 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.399T>C (p.Ile133=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001502948]|not provided [RCV000179806] |
Chr16:28487517 [GRCh38]
Chr16:28498838 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.393T>C (p.Ser131=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647754]|not provided [RCV000179807] |
Chr16:28487523 [GRCh38]
Chr16:28498844 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.734_736del (p.Ala245del) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV001785505]|Neuronal ceroid lipofuscinosis [RCV000538766]|not provided [RCV000187038] |
Chr16:28484060..28484062 [GRCh38]
Chr16:28495381..28495383 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.295-13T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002517848]|not specified [RCV000187008] |
Chr16:28487754 [GRCh38]
Chr16:28499075 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.-76-4G>T |
single nucleotide variant |
not specified [RCV000187012] |
Chr16:28491839 [GRCh38]
Chr16:28503160 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001729442]|Neuronal ceroid lipofuscinosis [RCV002516983]|not provided [RCV000187013] |
Chr16:28482340 [GRCh38]
Chr16:28493661 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.962+3A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001729443]|Neuronal ceroid lipofuscinosis [RCV001038302]|not provided [RCV000187014] |
Chr16:28482324 [GRCh38]
Chr16:28493645 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001042432.2(CLN3):c.976T>C (p.Tyr326His) |
single nucleotide variant |
not provided [RCV000187015] |
Chr16:28482185 [GRCh38]
Chr16:28493506 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000673887]|Neuronal ceroid lipofuscinosis [RCV001211899]|early onset and severe retinal dystrophy [RCV001270478] |
Chr16:28477577 [GRCh38]
Chr16:28488898 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001042432.2(CLN3):c.586G>T (p.Ala196Ser) |
single nucleotide variant |
not provided [RCV000187032] |
Chr16:28486438 [GRCh38]
Chr16:28497759 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del) |
microsatellite |
Neuronal ceroid lipofuscinosis 3 [RCV000665327]|not specified [RCV000187037] |
Chr16:28484063..28484065 [GRCh38]
Chr16:28495384..28495386 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.859C>T (p.Pro287Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002513987]|not provided [RCV000187040] |
Chr16:28482524 [GRCh38]
Chr16:28493845 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1022G>A (p.Arg341His) |
single nucleotide variant |
CLN3-related condition [RCV003917707]|Neuronal ceroid lipofuscinosis [RCV001081950]|not provided [RCV000862930] |
Chr16:28482139 [GRCh38]
Chr16:28493460 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.-41C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001116116]|not specified [RCV000187002] |
Chr16:28491800 [GRCh38]
Chr16:28503121 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.-33C>A |
single nucleotide variant |
not specified [RCV000187003] |
Chr16:28491792 [GRCh38]
Chr16:28503113 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.868G>T (p.Val290Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785494]|Neuronal ceroid lipofuscinosis [RCV000696008]|not provided [RCV000187004] |
Chr16:28482515 [GRCh38]
Chr16:28493836 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.264A>C (p.Ser88=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001439392]|not specified [RCV000187006] |
Chr16:28488621 [GRCh38]
Chr16:28499942 [GRCh37]
Chr16:16p12.1 |
benign|likely benign |
| NM_001042432.2(CLN3):c.270T>C (p.Phe90=) |
single nucleotide variant |
Inborn genetic diseases [RCV002426902]|Neuronal ceroid lipofuscinosis [RCV000632732]|not specified [RCV000187007] |
Chr16:28488615 [GRCh38]
Chr16:28499936 [GRCh37]
Chr16:16p12.1 |
benign|likely benign |
| NM_001042432.2(CLN3):c.418G>A (p.Val140Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002314697]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000345320]|Neuronal ceroid lipofuscinosis 3 [RCV001119063]|Neuronal ceroid lipofuscinosis [RCV001218859]|not provided [RCV000432571] |
Chr16:28487498 [GRCh38]
Chr16:28498819 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.678-18C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002054193]|not specified [RCV000187010] |
Chr16:28484136 [GRCh38]
Chr16:28495457 [GRCh37]
Chr16:16p12.1 |
benign|likely benign |
| NM_001042432.2(CLN3):c.-76-14G>A |
single nucleotide variant |
not specified [RCV000187011] |
Chr16:28491849 [GRCh38]
Chr16:28503170 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001729444]|Neuronal ceroid lipofuscinosis [RCV000812919]|Retinitis pigmentosa [RCV000504655]|not provided [RCV000187016] |
Chr16:28482173 [GRCh38]
Chr16:28493494 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001042432.2(CLN3):c.1028G>A (p.Arg343His) |
single nucleotide variant |
Inborn genetic diseases [RCV002381624]|Neuronal ceroid lipofuscinosis 3 [RCV001785495]|Neuronal ceroid lipofuscinosis [RCV001248053]|not provided [RCV000187017] |
Chr16:28482133 [GRCh38]
Chr16:28493454 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.49G>A (p.Glu17Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002336493]|Neuronal ceroid lipofuscinosis 3 [RCV001785496]|Neuronal ceroid lipofuscinosis [RCV000549781]|not provided [RCV000505765] |
Chr16:28491558 [GRCh38]
Chr16:28502879 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1086C>G (p.Asp362Glu) |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000355271]|Neuronal ceroid lipofuscinosis 3 [RCV001116004]|Neuronal ceroid lipofuscinosis [RCV000226481]|not provided [RCV000187019] |
Chr16:28477848 [GRCh38]
Chr16:28489169 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1117C>G (p.Leu373Val) |
single nucleotide variant |
not provided [RCV000187020] |
Chr16:28477817 [GRCh38]
Chr16:28489138 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1168G>A (p.Val390Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002317077]|Neuronal ceroid lipofuscinosis 3 [RCV001785497]|Neuronal ceroid lipofuscinosis [RCV001274310]|Retinal dystrophy [RCV001074564]|not provided [RCV000187021] |
Chr16:28477766 [GRCh38]
Chr16:28489087 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1225A>G (p.Met409Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785498]|Neuronal ceroid lipofuscinosis [RCV000692993]|not provided [RCV000187022] |
Chr16:28477608 [GRCh38]
Chr16:28488929 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1262C>T (p.Ser421Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002516984]|Neuronal ceroid lipofuscinosis 3 [RCV001785499]|Neuronal ceroid lipofuscinosis [RCV001240543]|not provided [RCV000187024] |
Chr16:28477571 [GRCh38]
Chr16:28488892 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002314698]|Neuronal ceroid lipofuscinosis 3 [RCV001330764]|Neuronal ceroid lipofuscinosis [RCV000557899]|not provided [RCV000187025]|not specified [RCV001844079] |
Chr16:28489306 [GRCh38]
Chr16:28500627 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002317078]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000300798]|Neuronal ceroid lipofuscinosis 3 [RCV001121029]|Neuronal ceroid lipofuscinosis [RCV001086732]|Progressive myoclonic epilepsy type 3 [RCV000791120]|not provided [RCV000725785] |
Chr16:28488643 [GRCh38]
Chr16:28499964 [GRCh37]
Chr16:16p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001042432.2(CLN3):c.266G>A (p.Arg89Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785500]|Neuronal ceroid lipofuscinosis [RCV000801221]|not provided [RCV000187027] |
Chr16:28488619 [GRCh38]
Chr16:28499940 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.361C>G (p.Leu121Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002314699]|Neuronal ceroid lipofuscinosis 3 [RCV001785501]|Neuronal ceroid lipofuscinosis [RCV000703070]|not provided [RCV000187028] |
Chr16:28487675 [GRCh38]
Chr16:28498996 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.380G>A (p.Arg127Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785502]|Neuronal ceroid lipofuscinosis [RCV001363012]|not provided [RCV000187029] |
Chr16:28487536 [GRCh38]
Chr16:28498857 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002317079]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000405250]|Neuronal ceroid lipofuscinosis 3 [RCV000765282]|Neuronal ceroid lipofuscinosis [RCV000697965]|not provided [RCV000187030] |
Chr16:28487524 [GRCh38]
Chr16:28498845 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.472G>A (p.Ala158Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785503]|Neuronal ceroid lipofuscinosis [RCV000689160]|not provided [RCV000187031] |
Chr16:28486639 [GRCh38]
Chr16:28497960 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.649C>A (p.Leu217Met) |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000346618]|Neuronal ceroid lipofuscinosis 3 [RCV001119058]|Neuronal ceroid lipofuscinosis [RCV000533590]|not provided [RCV000187033] |
Chr16:28486375 [GRCh38]
Chr16:28497696 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.665T>A (p.Leu222Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785504]|Neuronal ceroid lipofuscinosis [RCV001360007]|not provided [RCV000187034] |
Chr16:28486359 [GRCh38]
Chr16:28497680 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.616G>A (p.Gly206Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002354521]|Neuronal ceroid lipofuscinosis 3 [RCV001785506]|Neuronal ceroid lipofuscinosis [RCV000632693]|not provided [RCV000224526] |
Chr16:28486408 [GRCh38]
Chr16:28497729 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.769G>A (p.Glu257Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785507]|Neuronal ceroid lipofuscinosis [RCV001053130]|not provided [RCV000187042] |
Chr16:28484027 [GRCh38]
Chr16:28495348 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28497795-28498122)x1 |
copy number loss |
See cases [RCV000240133] |
Chr16:28497795..28498122 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28484556-29043450)x1 |
copy number loss |
See cases [RCV000258804] |
Chr16:28484556..29043450 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207226] |
Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2 |
uncertain significance |
| GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207053] |
Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28497795-28498182)x1 |
copy number loss |
See cases [RCV000240387] |
Chr16:28497795..28498182 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.1159G>A (p.Ala387Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000529656] |
Chr16:28477775 [GRCh38]
Chr16:28489096 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28486693-29043960)x1 |
copy number loss |
See cases [RCV000240493] |
Chr16:28486693..29043960 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.677+8G>A |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000284676]|Neuronal ceroid lipofuscinosis 3 [RCV001119057]|Neuronal ceroid lipofuscinosis [RCV000866200]|not provided [RCV001579402]|not specified [RCV000424611] |
Chr16:28486339 [GRCh38]
Chr16:28497660 [GRCh37]
Chr16:16p12.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001042432.2(CLN3):c.*205G>A |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000302287]|Neuronal ceroid lipofuscinosis 3 [RCV001118960] |
Chr16:28477311 [GRCh38]
Chr16:28488632 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.837+5G>A |
single nucleotide variant |
Inborn genetic diseases [RCV003278764]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000286126]|Neuronal ceroid lipofuscinosis 3 [RCV000672125]|Neuronal ceroid lipofuscinosis [RCV001052203]|Retinitis pigmentosa [RCV000504683] |
Chr16:28482621 [GRCh38]
Chr16:28493942 [GRCh37]
Chr16:16p12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001042432.2(CLN3):c.436C>T (p.His146Tyr) |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000288277]|Neuronal ceroid lipofuscinosis 3 [RCV001119062]|Neuronal ceroid lipofuscinosis [RCV001366583] |
Chr16:28487480 [GRCh38]
Chr16:28498801 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.*55C>A |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000270904]|Neuronal ceroid lipofuscinosis 3 [RCV001120929] |
Chr16:28477461 [GRCh38]
Chr16:28488782 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.-112C>T |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000260744]|Neuronal ceroid lipofuscinosis 3 [RCV001117547] |
Chr16:28492055 [GRCh38]
Chr16:28503376 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1057-14C>A |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000263814]|Neuronal ceroid lipofuscinosis 3 [RCV001116006]|Neuronal ceroid lipofuscinosis [RCV002522839] |
Chr16:28477891 [GRCh38]
Chr16:28489212 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.1(CLN3):c.-264C>G |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000264464]|Neuronal ceroid lipofuscinosis 3 [RCV001117551]|not provided [RCV001571799] |
Chr16:28492207 [GRCh38]
Chr16:28503528 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.461-3C>T |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000393510]|Neuronal ceroid lipofuscinosis 3 [RCV001119061]|Neuronal ceroid lipofuscinosis [RCV002521005] |
Chr16:28486653 [GRCh38]
Chr16:28497974 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.-129G>C |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000323062]|Neuronal ceroid lipofuscinosis 3 [RCV001117548]|not provided [RCV001551586] |
Chr16:28492072 [GRCh38]
Chr16:28503393 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.941G>A (p.Ser314Asn) |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000373570]|Neuronal ceroid lipofuscinosis 3 [RCV001117453] |
Chr16:28482348 [GRCh38]
Chr16:28493669 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1209G>A (p.Glu403=) |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000330765]|Neuronal ceroid lipofuscinosis 3 [RCV001116002]|Neuronal ceroid lipofuscinosis [RCV000544564]|not provided [RCV001707651] |
Chr16:28477624 [GRCh38]
Chr16:28488945 [GRCh37]
Chr16:16p12.1 |
benign|likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.761T>C (p.Ile254Thr) |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000376958]|Neuronal ceroid lipofuscinosis 3 [RCV001117456]|Neuronal ceroid lipofuscinosis [RCV001306343]|not provided [RCV001785563] |
Chr16:28484035 [GRCh38]
Chr16:28495356 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.308C>T (p.Ala103Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002321993]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000402737]|Neuronal ceroid lipofuscinosis 3 [RCV001121028]|Neuronal ceroid lipofuscinosis [RCV001047670]|not provided [RCV000480048] |
Chr16:28487728 [GRCh38]
Chr16:28499049 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.*155A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000403632]|not provided [RCV001590946] |
Chr16:28477361 [GRCh38]
Chr16:28488682 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.816_817del (p.Glu273fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV001729502]|not provided [RCV000352362] |
Chr16:28482646..28482647 [GRCh38]
Chr16:28493967..28493968 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.*99C>T |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000310613]|Neuronal ceroid lipofuscinosis 3 [RCV001120926]|not provided [RCV001545836] |
Chr16:28477417 [GRCh38]
Chr16:28488738 [GRCh37]
Chr16:16p12.1 |
benign|likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.*29A>G |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000314285]|Neuronal ceroid lipofuscinosis 3 [RCV001120930]|not provided [RCV000675974] |
Chr16:28477487 [GRCh38]
Chr16:28488808 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.327C>T (p.Leu109=) |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000315181]|Neuronal ceroid lipofuscinosis 3 [RCV001121025]|Neuronal ceroid lipofuscinosis [RCV000632735] |
Chr16:28487709 [GRCh38]
Chr16:28499030 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.537C>G (p.Ala179=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001729509]|Neuronal ceroid lipofuscinosis [RCV001271267]|not provided [RCV000364835] |
Chr16:28486487 [GRCh38]
Chr16:28497808 [GRCh37]
Chr16:16p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002392867]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000316657]|Neuronal ceroid lipofuscinosis 3 [RCV001116007]|Neuronal ceroid lipofuscinosis [RCV000560850]|not provided [RCV000482097] |
Chr16:28482128 [GRCh38]
Chr16:28493449 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.*78G>A |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000363027]|Neuronal ceroid lipofuscinosis 3 [RCV001120927] |
Chr16:28477438 [GRCh38]
Chr16:28488759 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.*200A>G |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000341070]|Neuronal ceroid lipofuscinosis 3 [RCV001118961] |
Chr16:28477316 [GRCh38]
Chr16:28488637 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1198-5C>T |
single nucleotide variant |
CLN3-related condition [RCV003977791]|Neuronal ceroid lipofuscinosis [RCV001083253]|not provided [RCV000407198] |
Chr16:28477640 [GRCh38]
Chr16:28488961 [GRCh37]
Chr16:16p12.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001042432.2(CLN3):c.1309C>T (p.Leu437Phe) |
single nucleotide variant |
not provided [RCV000489616] |
Chr16:28477524 [GRCh38]
Chr16:28488845 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28483631-29332591)x3 |
copy number gain |
not provided [RCV001270661] |
Chr16:28483631..29332591 [GRCh37]
Chr16:16p11.2 |
uncertain significance |
| GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1 |
copy number loss |
Chromosome 16p12.2-p11.2 deletion syndrome [RCV003315282] |
Chr16:21475039..29043958 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.1087G>A (p.Val363Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002532644]|Neuronal ceroid lipofuscinosis 3 [RCV001785677]|Neuronal ceroid lipofuscinosis [RCV000694731]|not provided [RCV000596433] |
Chr16:28477847 [GRCh38]
Chr16:28489168 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.1(CLN3):c.-218G>A |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000361392]|Neuronal ceroid lipofuscinosis 3 [RCV001117550] |
Chr16:28492161 [GRCh38]
Chr16:28503482 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.1(CLN3):c.-376_-371delTGAAGC |
deletion |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000310368]|not provided [RCV001712174] |
Chr16:28492314..28492319 [GRCh38]
Chr16:28503635..28503640 [GRCh37]
Chr16:16p12.1 |
benign|likely benign |
| NM_001042432.2(CLN3):c.-77+14G>T |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000353206]|Neuronal ceroid lipofuscinosis 3 [RCV001116117] |
Chr16:28492006 [GRCh38]
Chr16:28503327 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.17del (p.Gly6fs) |
deletion |
not provided [RCV000315220] |
Chr16:28491743 [GRCh38]
Chr16:28503064 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.771G>C (p.Glu257Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001027942]|Neuronal ceroid lipofuscinosis [RCV001069649]|not provided [RCV000592612] |
Chr16:28484025 [GRCh38]
Chr16:28495346 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.707C>T (p.Ala236Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002527641]|not provided [RCV000523900] |
Chr16:28484089 [GRCh38]
Chr16:28495410 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.47-4C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002062826]|not specified [RCV000604554] |
Chr16:28491564 [GRCh38]
Chr16:28502885 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.281_282del (p.Ser94fs) |
microsatellite |
Neuronal ceroid lipofuscinosis 3 [RCV000409322] |
Chr16:28488603..28488604 [GRCh38]
Chr16:28499924..28499925 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.962+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000409352] |
Chr16:28482326 [GRCh38]
Chr16:28493647 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.46+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000409491]|Neuronal ceroid lipofuscinosis [RCV001379345] |
Chr16:28491713 [GRCh38]
Chr16:28503034 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000410540]|Neuronal ceroid lipofuscinosis [RCV000989587] |
Chr16:28477875 [GRCh38]
Chr16:28489196 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.677+1G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000410679] |
Chr16:28486346 [GRCh38]
Chr16:28497667 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.447G>T (p.Gly149=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001729625]|Neuronal ceroid lipofuscinosis [RCV000539426]|not specified [RCV000608272] |
Chr16:28487469 [GRCh38]
Chr16:28498790 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.683dup (p.Leu230fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV000411858] |
Chr16:28484112..28484113 [GRCh38]
Chr16:28495433..28495434 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.152C>T (p.Ser51Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000765284]|Neuronal ceroid lipofuscinosis [RCV000801318]|not provided [RCV000594773] |
Chr16:28489360 [GRCh38]
Chr16:28500681 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.791-1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000412040] |
Chr16:28482673 [GRCh38]
Chr16:28493994 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.1013G>A (p.Arg338His) |
single nucleotide variant |
Inborn genetic diseases [RCV003372701]|Neuronal ceroid lipofuscinosis 3 [RCV001334709]|Neuronal ceroid lipofuscinosis [RCV000632702]|not specified [RCV000412900] |
Chr16:28482148 [GRCh38]
Chr16:28493469 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.222T>C (p.His74=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001116111]|Neuronal ceroid lipofuscinosis [RCV000536369]|not provided [RCV001579990]|not specified [RCV001702672] |
Chr16:28489290 [GRCh38]
Chr16:28500611 [GRCh37]
Chr16:16p12.1 |
benign|likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000409421]|not provided [RCV003333982] |
Chr16:28491758 [GRCh38]
Chr16:28503079 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.906+2T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000410383]|Neuronal ceroid lipofuscinosis [RCV002523852]|not provided [RCV000726946] |
Chr16:28482475 [GRCh38]
Chr16:28493796 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001042432.2(CLN3):c.963-1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000410762]|Neuronal ceroid lipofuscinosis [RCV001861373] |
Chr16:28482199 [GRCh38]
Chr16:28493520 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 |
copy number gain |
See cases [RCV000449403] |
Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28486693-28578470)x3 |
copy number gain |
See cases [RCV000446894] |
Chr16:28486693..28578470 [GRCh37]
Chr16:16p11.2 |
likely benign |
| GRCh37/hg19 16p11.2(chr16:28486693-30197290)x1 |
copy number loss |
See cases [RCV000447001] |
Chr16:28486693..30197290 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28486693-29048572)x1 |
copy number loss |
See cases [RCV000447021] |
Chr16:28486693..29048572 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.47-11C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002521739]|not provided [RCV001698169] |
Chr16:28491571 [GRCh38]
Chr16:28502892 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.-91C>G |
single nucleotide variant |
not specified [RCV000437829] |
Chr16:28492034 [GRCh38]
Chr16:28503355 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-11C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001472746]|not specified [RCV000434889] |
Chr16:28477888 [GRCh38]
Chr16:28489209 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1213C>A (p.Arg405=) |
single nucleotide variant |
not specified [RCV000438316] |
Chr16:28477620 [GRCh38]
Chr16:28488941 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1197+13C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002062302]|not specified [RCV000438459] |
Chr16:28477724 [GRCh38]
Chr16:28489045 [GRCh37]
Chr16:16p12.1 |
benign|likely benign |
| NM_001042432.2(CLN3):c.963-16C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002065000]|not specified [RCV000435071] |
Chr16:28482214 [GRCh38]
Chr16:28493535 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.853A>G (p.Ile285Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000670651]|Neuronal ceroid lipofuscinosis [RCV001857225]|Retinal dystrophy [RCV001074991]|Retinitis pigmentosa [RCV000505019] |
Chr16:28482530 [GRCh38]
Chr16:28493851 [GRCh37]
Chr16:16p12.1 |
likely pathogenic|uncertain significance |
| NM_001042432.2(CLN3):c.461-279_677+384del |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV000576750]|Retinitis pigmentosa [RCV000505074] |
Chr16:28485963..28486929 [GRCh38]
Chr16:28497284..28498250 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.125+3G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001729593]|Neuronal ceroid lipofuscinosis [RCV000632694]|not provided [RCV000675978]|not specified [RCV000428334] |
Chr16:28491479 [GRCh38]
Chr16:28502800 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.1150C>T (p.Leu384=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002062518]|not specified [RCV000438868] |
Chr16:28477784 [GRCh38]
Chr16:28489105 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.243G>A (p.Pro81=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001459014]|not specified [RCV000442567] |
Chr16:28488642 [GRCh38]
Chr16:28499963 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.777G>A (p.Pro259=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000870378]|not provided [RCV001579629] |
Chr16:28484019 [GRCh38]
Chr16:28495340 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1135C>T (p.Leu379=) |
single nucleotide variant |
Inborn genetic diseases [RCV002323588]|Neuronal ceroid lipofuscinosis [RCV000925661]|not specified [RCV000418918] |
Chr16:28477799 [GRCh38]
Chr16:28489120 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.207G>A (p.Ser69=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000976790]|not specified [RCV000432044] |
Chr16:28489305 [GRCh38]
Chr16:28500626 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.180C>T (p.His60=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001459442]|not specified [RCV000435586] |
Chr16:28489332 [GRCh38]
Chr16:28500653 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.814C>T (p.Arg272Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785614]|Neuronal ceroid lipofuscinosis [RCV001362906]|not provided [RCV000421704] |
Chr16:28482649 [GRCh38]
Chr16:28493970 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1167C>T (p.Tyr389=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001404135]|not provided [RCV001712366] |
Chr16:28477767 [GRCh38]
Chr16:28489088 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.677+19G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001485075]|not specified [RCV000439285] |
Chr16:28486328 [GRCh38]
Chr16:28497649 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1197+13C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002061357]|not specified [RCV000429184] |
Chr16:28477724 [GRCh38]
Chr16:28489045 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.533+18G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002059960]|not specified [RCV000436132] |
Chr16:28486560 [GRCh38]
Chr16:28497881 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1056+8A>C |
single nucleotide variant |
not specified [RCV000422819] |
Chr16:28482097 [GRCh38]
Chr16:28493418 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1198-17G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002059867]|not specified [RCV000426676] |
Chr16:28477652 [GRCh38]
Chr16:28488973 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.791-6C>T |
single nucleotide variant |
not specified [RCV000437202] |
Chr16:28482678 [GRCh38]
Chr16:28493999 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.882C>T (p.Ala294=) |
single nucleotide variant |
Inborn genetic diseases [RCV002374636]|Neuronal ceroid lipofuscinosis [RCV000867759]|not specified [RCV000440927] |
Chr16:28482501 [GRCh38]
Chr16:28493822 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.861C>T (p.Pro287=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002056664]|not specified [RCV000423372] |
Chr16:28482522 [GRCh38]
Chr16:28493843 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NC_000016.10:g.(?_28370872)_(29324276_?)del |
deletion |
Schizophrenia [RCV000416901] |
Chr16:28370872..29324276 [GRCh38]
Chr16:28382193..29335597 [GRCh37]
Chr16:28289694..29243098 [NCBI36]
Chr16:16p12.1-11.2 |
likely pathogenic |
| NM_001042432.2(CLN3):c.8G>A (p.Gly3Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000463414] |
Chr16:28491752 [GRCh38]
Chr16:28503073 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1191C>T (p.Ala397=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000463993] |
Chr16:28477743 [GRCh38]
Chr16:28489064 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.67C>T (p.Pro23Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000467562] |
Chr16:28491540 [GRCh38]
Chr16:28502861 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.987C>T (p.Gly329=) |
single nucleotide variant |
Inborn genetic diseases [RCV002383886]|Neuronal ceroid lipofuscinosis [RCV000469860] |
Chr16:28482174 [GRCh38]
Chr16:28493495 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.460+3G>A |
single nucleotide variant |
CLN3-related condition [RCV003902648]|Neuronal ceroid lipofuscinosis [RCV000473448] |
Chr16:28487453 [GRCh38]
Chr16:28498774 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001729612]|Neuronal ceroid lipofuscinosis [RCV003532139]|not provided [RCV000480738] |
Chr16:28484012 [GRCh38]
Chr16:28495333 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.32T>C (p.Phe11Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785634]|Neuronal ceroid lipofuscinosis [RCV001345690]|not provided [RCV000479351] |
Chr16:28491728 [GRCh38]
Chr16:28503049 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.750del (p.Gln251fs) |
deletion |
not provided [RCV000481514] |
Chr16:28484046 [GRCh38]
Chr16:28495367 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.1012C>T (p.Arg338Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002455929]|Neuronal ceroid lipofuscinosis 3 [RCV001785629]|Neuronal ceroid lipofuscinosis [RCV000819028]|not provided [RCV000479432] |
Chr16:28482149 [GRCh38]
Chr16:28493470 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser) |
single nucleotide variant |
CLN3-related condition [RCV003902720]|Inborn genetic diseases [RCV002455909]|Neuronal ceroid lipofuscinosis 3 [RCV001729611]|Neuronal ceroid lipofuscinosis [RCV000632734]|not provided [RCV001721545] |
Chr16:28488647 [GRCh38]
Chr16:28499968 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.461-3C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001729613]|Neuronal ceroid lipofuscinosis [RCV001060717]|not provided [RCV000483799] |
Chr16:28486653 [GRCh38]
Chr16:28497974 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001042432.2(CLN3):c.1120G>A (p.Val374Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002438183]|Neuronal ceroid lipofuscinosis 3 [RCV001785631]|Neuronal ceroid lipofuscinosis [RCV001241618]|not provided [RCV000479997] |
Chr16:28477814 [GRCh38]
Chr16:28489135 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.849G>T (p.Trp283Cys) |
single nucleotide variant |
not provided [RCV000480259] |
Chr16:28482534 [GRCh38]
Chr16:28493855 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.-1G>T |
single nucleotide variant |
Inborn genetic diseases [RCV002318575]|Neuronal ceroid lipofuscinosis 3 [RCV001785624]|not provided [RCV000727132] |
Chr16:28491760 [GRCh38]
Chr16:28503081 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1004C>A (p.Ser335Tyr) |
single nucleotide variant |
not provided [RCV000483852] |
Chr16:28482157 [GRCh38]
Chr16:28493478 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.461-3C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785622]|Neuronal ceroid lipofuscinosis [RCV000692957]|not provided [RCV000732347] |
Chr16:28486653 [GRCh38]
Chr16:28497974 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1234A>G (p.Thr412Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785628]|Neuronal ceroid lipofuscinosis [RCV001243186]|not provided [RCV000485590] |
Chr16:28477599 [GRCh38]
Chr16:28488920 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.222+9CT[2] |
microsatellite |
Neuronal ceroid lipofuscinosis [RCV003532141]|not specified [RCV000481630] |
Chr16:28489276..28489277 [GRCh38]
Chr16:28500597..28500598 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.938T>C (p.Leu313Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785623]|Neuronal ceroid lipofuscinosis [RCV001064358]|not provided [RCV000733906] |
Chr16:28482351 [GRCh38]
Chr16:28493672 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1210C>T (p.His404Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001851220]|not provided [RCV000486154] |
Chr16:28477623 [GRCh38]
Chr16:28488944 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.764G>A (p.Arg255Lys) |
single nucleotide variant |
not provided [RCV000482549] |
Chr16:28484032 [GRCh38]
Chr16:28495353 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.767C>T (p.Thr256Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003766714]|not provided [RCV000482723] |
Chr16:28484029 [GRCh38]
Chr16:28495350 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001253588]|Neuronal ceroid lipofuscinosis [RCV000559381]|Retinal dystrophy [RCV001075708]|Retinitis pigmentosa [RCV000504756]|not provided [RCV000487188] |
Chr16:28477620 [GRCh38]
Chr16:28488941 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001042432.2(CLN3):c.141del (p.Leu46_Cys47insTer) |
deletion |
Neuronal ceroid lipofuscinosis [RCV001851209]|not provided [RCV000480496] |
Chr16:28489371 [GRCh38]
Chr16:28500692 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.388G>A (p.Val130Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003114606]|not provided [RCV000478972] |
Chr16:28487528 [GRCh38]
Chr16:28498849 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28384463-29343462)x1 |
copy number loss |
See cases [RCV000510329] |
Chr16:28384463..29343462 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.290C>T (p.Thr97Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002438217]|Neuronal ceroid lipofuscinosis 3 [RCV001785641]|Neuronal ceroid lipofuscinosis [RCV000690708]|not specified [RCV000502862] |
Chr16:28488595 [GRCh38]
Chr16:28499916 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.319C>T (p.Pro107Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785640]|Neuronal ceroid lipofuscinosis [RCV001045569]|not specified [RCV000500791] |
Chr16:28487717 [GRCh38]
Chr16:28499038 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.87C>A (p.Asp29Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002298623]|not provided [RCV000493571] |
Chr16:28491520 [GRCh38]
Chr16:28502841 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 |
copy number gain |
See cases [RCV000511622] |
Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28441538-30178406)x1 |
copy number loss |
See cases [RCV000511533] |
Chr16:28441538..30178406 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4 |
copy number gain |
See cases [RCV000511587] |
Chr16:22718350..28858721 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28371467-29426399)x4 |
copy number gain |
See cases [RCV000511109] |
Chr16:28371467..29426399 [GRCh37]
Chr16:16p11.2 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28466730-29427247)x1 |
copy number loss |
See cases [RCV000510933] |
Chr16:28466730..29427247 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 |
copy number loss |
See cases [RCV000511271] |
Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| maternal UPD(16p) |
complex |
Hemimegalencephaly [RCV000494707] |
Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.962+7G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000556697] |
Chr16:28482320 [GRCh38]
Chr16:28493641 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.569dup (p.Ala191fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV001729626]|Neuronal ceroid lipofuscinosis [RCV000540211]|not provided [RCV001008369] |
Chr16:28486454..28486455 [GRCh38]
Chr16:28497775..28497776 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.360C>A (p.His120Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003271844] |
Chr16:28487676 [GRCh38]
Chr16:28498997 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.420C>G (p.Val140=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632740] |
Chr16:28487496 [GRCh38]
Chr16:28498817 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.626C>T (p.Pro209Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002528857]|Neuronal ceroid lipofuscinosis [RCV000632689] |
Chr16:28486398 [GRCh38]
Chr16:28497719 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NC_000016.10:g.(?_28487436)_(28491779_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV000632774] |
Chr16:28487436..28491779 [GRCh38]
Chr16:28498757..28503100 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.-17G>A |
single nucleotide variant |
not specified [RCV000603214] |
Chr16:28491776 [GRCh38]
Chr16:28503097 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.-90T>C |
single nucleotide variant |
not specified [RCV000601488] |
Chr16:28492033 [GRCh38]
Chr16:28503354 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1291C>T (p.His431Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632704] |
Chr16:28477542 [GRCh38]
Chr16:28488863 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_001042432.2(CLN3):c.534-18C>T |
single nucleotide variant |
not specified [RCV000612391] |
Chr16:28486508 [GRCh38]
Chr16:28497829 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.615C>T (p.Ala205=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001027944]|Neuronal ceroid lipofuscinosis [RCV000867340]|not provided [RCV003424178]|not specified [RCV000609845] |
Chr16:28486409 [GRCh38]
Chr16:28497730 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.295-17C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003767632]|not specified [RCV000601731] |
Chr16:28487758 [GRCh38]
Chr16:28499079 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1198-14C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002064291]|not specified [RCV000615920] |
Chr16:28477649 [GRCh38]
Chr16:28488970 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.837+12G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647787]|not specified [RCV000616103] |
Chr16:28482614 [GRCh38]
Chr16:28493935 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.309G>A (p.Ala103=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001729653]|Neuronal ceroid lipofuscinosis [RCV000700238]|not specified [RCV000610366] |
Chr16:28487727 [GRCh38]
Chr16:28499048 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.-77+12A>C |
single nucleotide variant |
not specified [RCV000616338] |
Chr16:28492008 [GRCh38]
Chr16:28503329 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.870A>G (p.Val290=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001027943]|Neuronal ceroid lipofuscinosis [RCV001393819]|not specified [RCV000608502] |
Chr16:28482513 [GRCh38]
Chr16:28493834 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.33T>C (p.Phe11=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000908895]|not specified [RCV000613998] |
Chr16:28491727 [GRCh38]
Chr16:28503048 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.304C>T (p.Leu102=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000979339]|not specified [RCV000614659] |
Chr16:28487732 [GRCh38]
Chr16:28499053 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.288T>A (p.Ser96=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001406661]|not specified [RCV000604585] |
Chr16:28488597 [GRCh38]
Chr16:28499918 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001119056]|Neuronal ceroid lipofuscinosis [RCV000632678] |
Chr16:28484048 [GRCh38]
Chr16:28495369 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 |
copy number gain |
See cases [RCV000512428] |
Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001857319]|Retinitis pigmentosa [RCV001199670]|not provided [RCV000513241] |
Chr16:28486348 [GRCh38]
Chr16:28497669 [GRCh37]
Chr16:16p12.1 |
pathogenic|uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 |
copy number gain |
See cases [RCV000512478] |
Chr16:21379628..29351826 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.370del (p.Tyr124fs) |
deletion |
Retinitis pigmentosa [RCV001199669]|not provided [RCV000513654] |
Chr16:28487666 [GRCh38]
Chr16:28498987 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.1132A>G (p.Ile378Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000700766] |
Chr16:28477802 [GRCh38]
Chr16:28489123 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NC_000016.9:g.(?_28499892)_(28503100_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV000707858] |
Chr16:28488571..28491779 [GRCh38]
Chr16:28499892..28503100 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NC_000016.10:g.(?_28487456)_(28595930_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV000708291] |
Chr16:28487456..28595930 [GRCh38]
Chr16:28498777..28607251 [GRCh37]
Chr16:16p12.1-11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.1057-22dup |
duplication |
not provided [RCV000675976] |
Chr16:28477898..28477899 [GRCh38]
Chr16:28489219..28489220 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.1A>G (p.Met1Val) |
single nucleotide variant |
CLN3-related condition [RCV003420170]|Neuronal ceroid lipofuscinosis 3 [RCV000664968]|Neuronal ceroid lipofuscinosis [RCV001868197] |
Chr16:28491759 [GRCh38]
Chr16:28503080 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.47-1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000670278]|Neuronal ceroid lipofuscinosis [RCV000778462] |
Chr16:28491561 [GRCh38]
Chr16:28502882 [GRCh37]
Chr16:16p12.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001042432.2(CLN3):c.125+1del |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV000666933] |
Chr16:28491481 [GRCh38]
Chr16:28502802 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.1067dup (p.Val357fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV000664720] |
Chr16:28477866..28477867 [GRCh38]
Chr16:28489187..28489188 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.195dup (p.Lys66fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV000665468] |
Chr16:28489316..28489317 [GRCh38]
Chr16:28500637..28500638 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NC_000016.9:g.(?_28486664)_(28503100_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV000707969] |
Chr16:28475343..28491779 [GRCh38]
Chr16:28486664..28503100 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.790+1del |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV000668016]|Neuronal ceroid lipofuscinosis [RCV001378087] |
Chr16:28484005 [GRCh38]
Chr16:28495326 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.46+1G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000674867] |
Chr16:28491713 [GRCh38]
Chr16:28503034 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.295-2A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000672581] |
Chr16:28487743 [GRCh38]
Chr16:28499064 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.1116C>G (p.Tyr372Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000665318] |
Chr16:28477818 [GRCh38]
Chr16:28489139 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.963-63_963-44dup |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV000673927] |
Chr16:28482241..28482242 [GRCh38]
Chr16:28493562..28493563 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.47-3C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001116114]|Neuronal ceroid lipofuscinosis [RCV000686232] |
Chr16:28491563 [GRCh38]
Chr16:28502884 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.963-2A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000664643] |
Chr16:28482200 [GRCh38]
Chr16:28493521 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.1249A>G (p.Thr417Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000696957] |
Chr16:28477584 [GRCh38]
Chr16:28488905 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.223-1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV000667804] |
Chr16:28488663 [GRCh38]
Chr16:28499984 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_000086.2(CLN3):c.(374+1_375-1)_(533+1_534-1)del |
deletion |
Retinitis pigmentosa [RCV000678539] |
Chr16:28486577..28487542 [GRCh38]
Chr16:28497898..28498863 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28389576-29438326)x1 |
copy number loss |
not provided [RCV000683798] |
Chr16:28389576..29438326 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 |
copy number loss |
not provided [RCV000683786] |
Chr16:21379628..29379768 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.1003T>C (p.Ser335Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000696983] |
Chr16:28482158 [GRCh38]
Chr16:28493479 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_000086.2(CLN3):c.(374+1_375-1)_(533+1_534-1)del |
deletion |
Retinitis pigmentosa [RCV000678539] |
Chr16:28486577..28487542 [GRCh38]
Chr16:28497898..28498863 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.1069G>T (p.Val357Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000687811] |
Chr16:28477865 [GRCh38]
Chr16:28489186 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.568G>A (p.Gly190Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000696863] |
Chr16:28486456 [GRCh38]
Chr16:28497777 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.283G>A (p.Val95Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000698301] |
Chr16:28488602 [GRCh38]
Chr16:28499923 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.832T>A (p.Phe278Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000703185] |
Chr16:28482631 [GRCh38]
Chr16:28493952 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.644C>A (p.Ser215Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001330765]|Neuronal ceroid lipofuscinosis [RCV000705804] |
Chr16:28486380 [GRCh38]
Chr16:28497701 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1240A>G (p.Ile414Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785707]|Neuronal ceroid lipofuscinosis [RCV000706390]|not provided [RCV000734287] |
Chr16:28477593 [GRCh38]
Chr16:28488914 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NC_000016.10:g.(?_28486347)_(28486650_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV000708334] |
Chr16:28486347..28486650 [GRCh38]
Chr16:28497668..28497971 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.519T>C (p.Thr173=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001085891]|not provided [RCV000711256] |
Chr16:28486592 [GRCh38]
Chr16:28497913 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785709]|Neuronal ceroid lipofuscinosis [RCV001070531]|not provided [RCV000711255] |
Chr16:28477548 [GRCh38]
Chr16:28488869 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1203T>A (p.Ser401Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002312787]|Neuronal ceroid lipofuscinosis 3 [RCV001785710]|Neuronal ceroid lipofuscinosis [RCV001276274] |
Chr16:28477630 [GRCh38]
Chr16:28488951 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.742G>A (p.Ala248Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002316094]|Neuronal ceroid lipofuscinosis [RCV002534541] |
Chr16:28484054 [GRCh38]
Chr16:28495375 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.437A>G (p.His146Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002318319]|Neuronal ceroid lipofuscinosis [RCV002533058] |
Chr16:28487479 [GRCh38]
Chr16:28498800 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28497668-28497971) |
copy number loss |
Neuronal ceroid lipofuscinosis 3 [RCV001004074] |
Chr16:28497668..28497971 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.1002C>T (p.Arg334=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318230]|Neuronal ceroid lipofuscinosis [RCV001423413] |
Chr16:28482159 [GRCh38]
Chr16:28493480 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1158C>T (p.Gly386=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318266]|Neuronal ceroid lipofuscinosis [RCV000791509] |
Chr16:28477776 [GRCh38]
Chr16:28489097 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.1269G>A (p.Ser423=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318277]|Neuronal ceroid lipofuscinosis [RCV001315273] |
Chr16:28477564 [GRCh38]
Chr16:28488885 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.443_445del (p.Val148del) |
deletion |
Intellectual disability [RCV001251941]|Neuronal ceroid lipofuscinosis [RCV001318096]|not specified [RCV003235518] |
Chr16:28487471..28487473 [GRCh38]
Chr16:28498792..28498794 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.461-4C>G |
single nucleotide variant |
Intellectual disability [RCV001251942]|Neuronal ceroid lipofuscinosis [RCV002069332] |
Chr16:28486654 [GRCh38]
Chr16:28497975 [GRCh37]
Chr16:16p12.1 |
likely benign |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NC_000016.10:g.(?_28351819)_(29325073_?)del |
deletion |
Schizophrenia [RCV000754181] |
Chr16:28351819..29325073 [GRCh38]
Chr16:16p12.1-11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.312C>T (p.Asp104=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000940964] |
Chr16:28487724 [GRCh38]
Chr16:28499045 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.534G>C (p.Arg178Ser) |
single nucleotide variant |
Retinitis pigmentosa [RCV001591919] |
Chr16:28486490 [GRCh38]
Chr16:28497811 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV002471126]|Neuronal ceroid lipofuscinosis [RCV001866161]|Retinitis pigmentosa [RCV001591920] |
Chr16:28486599 [GRCh38]
Chr16:28497920 [GRCh37]
Chr16:16p12.1 |
likely pathogenic|uncertain significance |
| NM_001042432.2(CLN3):c.255C>T (p.Asn85=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001488946] |
Chr16:28488630 [GRCh38]
Chr16:28499951 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.381G>C (p.Arg127=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001465402] |
Chr16:28487535 [GRCh38]
Chr16:28498856 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.295-229T>C |
single nucleotide variant |
not provided [RCV001669026] |
Chr16:28487970 [GRCh38]
Chr16:28499291 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.1056+140G>A |
single nucleotide variant |
not provided [RCV001725597] |
Chr16:28481965 [GRCh38]
Chr16:28493286 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.294+266_294+267del |
deletion |
not provided [RCV001680916] |
Chr16:28488324..28488325 [GRCh38]
Chr16:28499645..28499646 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.790+267dup |
duplication |
not provided [RCV001571431] |
Chr16:28483713..28483714 [GRCh38]
Chr16:28495034..28495035 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.838-35C>G |
single nucleotide variant |
not provided [RCV001576974] |
Chr16:28482580 [GRCh38]
Chr16:28493901 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.868G>A (p.Val290Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001117454] |
Chr16:28482515 [GRCh38]
Chr16:28493836 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1017C>G (p.Cys339Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002539705]|not provided [RCV001702296] |
Chr16:28482144 [GRCh38]
Chr16:28493465 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1119C>T (p.Leu373=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001116003]|Neuronal ceroid lipofuscinosis [RCV001422385] |
Chr16:28477815 [GRCh38]
Chr16:28489136 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.677+201G>A |
single nucleotide variant |
not provided [RCV001550090] |
Chr16:28486146 [GRCh38]
Chr16:28497467 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1095C>T (p.Phe365=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000866327] |
Chr16:28477839 [GRCh38]
Chr16:28489160 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.621C>G (p.Leu207=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000869044] |
Chr16:28486403 [GRCh38]
Chr16:28497724 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.744A>C (p.Ala248=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000983533] |
Chr16:28484052 [GRCh38]
Chr16:28495373 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.223-10C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001476891] |
Chr16:28488672 [GRCh38]
Chr16:28499993 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.759C>T (p.Leu253=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000983765] |
Chr16:28484037 [GRCh38]
Chr16:28495358 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.294+10C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000867303] |
Chr16:28488581 [GRCh38]
Chr16:28499902 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1250C>T (p.Thr417Ile) |
single nucleotide variant |
not provided [RCV000996246] |
Chr16:28477583 [GRCh38]
Chr16:28488904 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.278A>G (p.Asn93Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002436637]|Neuronal ceroid lipofuscinosis [RCV001060110] |
Chr16:28488607 [GRCh38]
Chr16:28499928 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.464T>G (p.Val155Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001785774]|Neuronal ceroid lipofuscinosis [RCV001060369]|not provided [RCV001760021] |
Chr16:28486647 [GRCh38]
Chr16:28497968 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.374+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001057311] |
Chr16:28487661 [GRCh38]
Chr16:28498982 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.790G>C (p.Gly264Arg) |
single nucleotide variant |
Retinal dystrophy [RCV001073451] |
Chr16:28484006 [GRCh38]
Chr16:28495327 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.251A>G (p.His84Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001047365] |
Chr16:28488634 [GRCh38]
Chr16:28499955 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001376248]|Neuronal ceroid lipofuscinosis [RCV001862820]|Retinal dystrophy [RCV001074167] |
Chr16:28484045 [GRCh38]
Chr16:28495366 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NC_000016.10:g.(?_28483996)_(28484128_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001031647] |
Chr16:28495317..28495449 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.422T>C (p.Leu141Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001066933] |
Chr16:28487494 [GRCh38]
Chr16:28498815 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.790+532_1056+1445del |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV000780190] |
Chr16:28480660..28483474 [GRCh38]
Chr16:28491981..28494795 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NC_000016.10:g.(?_28485965)_(28486930_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV000814616] |
Chr16:28485965..28486930 [GRCh38]
Chr16:28497286..28498251 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.47-8T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000978802] |
Chr16:28491568 [GRCh38]
Chr16:28502889 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.741C>T (p.Ser247=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000973985] |
Chr16:28484055 [GRCh38]
Chr16:28495376 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.294+10C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000886740] |
Chr16:28488581 [GRCh38]
Chr16:28499902 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.693C>T (p.Leu231=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000894808]|not provided [RCV002264990] |
Chr16:28484103 [GRCh38]
Chr16:28495424 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.591G>A (p.Leu197=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000871572] |
Chr16:28486433 [GRCh38]
Chr16:28497754 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.378C>T (p.Pro126=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001497601] |
Chr16:28487538 [GRCh38]
Chr16:28498859 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1078C>T (p.Leu360=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000940311] |
Chr16:28477856 [GRCh38]
Chr16:28489177 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.838-9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001453420] |
Chr16:28482554 [GRCh38]
Chr16:28493875 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.945C>T (p.His315=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000964667] |
Chr16:28482344 [GRCh38]
Chr16:28493665 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.126-8C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001116113]|Neuronal ceroid lipofuscinosis [RCV000862905]|not provided [RCV001712802] |
Chr16:28489394 [GRCh38]
Chr16:28500715 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NC_000016.9:g.21530207_29332245del |
deletion |
not provided [RCV001030428] |
Chr16:21530207..29332245 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.294+286A>G |
single nucleotide variant |
not provided [RCV000831026] |
Chr16:28488305 [GRCh38]
Chr16:28499626 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.258C>T (p.Ser86=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000871268] |
Chr16:28488627 [GRCh38]
Chr16:28499948 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.678-313G>A |
single nucleotide variant |
not provided [RCV000827745] |
Chr16:28484431 [GRCh38]
Chr16:28495752 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.1056G>T (p.Gln352His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000817490] |
Chr16:28482105 [GRCh38]
Chr16:28493426 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.-77+85G>A |
single nucleotide variant |
not provided [RCV000832450] |
Chr16:28491935 [GRCh38]
Chr16:28503256 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.46+63A>G |
single nucleotide variant |
not provided [RCV000832451] |
Chr16:28491651 [GRCh38]
Chr16:28502972 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.1057-55C>T |
single nucleotide variant |
not provided [RCV000832452] |
Chr16:28477932 [GRCh38]
Chr16:28489253 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.460+376_677+388del |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV000824958] |
Chr16:28485959..28487080 [GRCh38]
Chr16:28497280..28498401 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.565G>A (p.Gly189Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000805513] |
Chr16:28486459 [GRCh38]
Chr16:28497780 [GRCh37]
Chr16:16p12.1 |
pathogenic|uncertain significance |
| NM_001042432.2(CLN3):c.1186A>G (p.Ile396Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000800740] |
Chr16:28477748 [GRCh38]
Chr16:28489069 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.677+147C>G |
single nucleotide variant |
not provided [RCV000837215] |
Chr16:28486200 [GRCh38]
Chr16:28497521 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.688T>A (p.Leu230Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000812671] |
Chr16:28484108 [GRCh38]
Chr16:28495429 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.46+13G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002538308]|not provided [RCV000841340] |
Chr16:28491701 [GRCh38]
Chr16:28503022 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.298G>C (p.Val100Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000813000] |
Chr16:28487738 [GRCh38]
Chr16:28499059 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28466730-30177916)x1 |
copy number loss |
not provided [RCV000848428] |
Chr16:28466730..30177916 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.1276C>G (p.Leu426Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000801744] |
Chr16:28477557 [GRCh38]
Chr16:28488878 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28466730-28585574)x3 |
copy number gain |
not provided [RCV000849661] |
Chr16:28466730..28585574 [GRCh37]
Chr16:16p11.2 |
uncertain significance |
| NM_001042432.2(CLN3):c.1200C>T (p.Thr400=) |
single nucleotide variant |
not provided [RCV000828830] |
Chr16:28477633 [GRCh38]
Chr16:28488954 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-9del |
deletion |
Neuronal ceroid lipofuscinosis [RCV000794680] |
Chr16:28477886 [GRCh38]
Chr16:28489207 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.126-211A>T |
single nucleotide variant |
not provided [RCV000837138] |
Chr16:28489597 [GRCh38]
Chr16:28500918 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.295-127C>T |
single nucleotide variant |
not provided [RCV000837139] |
Chr16:28487868 [GRCh38]
Chr16:28499189 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.907-19del |
deletion |
not provided [RCV000827412] |
Chr16:28482401 [GRCh38]
Chr16:28493722 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.768C>G (p.Thr256=) |
single nucleotide variant |
not provided [RCV000827566] |
Chr16:28484028 [GRCh38]
Chr16:28495349 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.294+253T>A |
single nucleotide variant |
not provided [RCV000827743] |
Chr16:28488338 [GRCh38]
Chr16:28499659 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.1(CLN3):c.-210G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001117549] |
Chr16:28492153 [GRCh38]
Chr16:28503474 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.461-1G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV003467458]|Neuronal ceroid lipofuscinosis [RCV000812096] |
Chr16:28486651 [GRCh38]
Chr16:28497972 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.*187G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001118962] |
Chr16:28477329 [GRCh38]
Chr16:28488650 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.294+265A>T |
single nucleotide variant |
not provided [RCV000826871] |
Chr16:28488326 [GRCh38]
Chr16:28499647 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.-93T>G |
single nucleotide variant |
not provided [RCV000827245] |
Chr16:28492036 [GRCh38]
Chr16:28503357 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.460+7G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000864210] |
Chr16:28487449 [GRCh38]
Chr16:28498770 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.291G>A (p.Thr97=) |
single nucleotide variant |
Inborn genetic diseases [RCV002440720]|Neuronal ceroid lipofuscinosis [RCV000806522] |
Chr16:28488594 [GRCh38]
Chr16:28499915 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.236C>T (p.Pro79Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000793950] |
Chr16:28488649 [GRCh38]
Chr16:28499970 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1305C>G (p.Cys435Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002381828]|Neuronal ceroid lipofuscinosis [RCV000815406] |
Chr16:28477528 [GRCh38]
Chr16:28488849 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.125+49A>G |
single nucleotide variant |
not provided [RCV000833796] |
Chr16:28491433 [GRCh38]
Chr16:28502754 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1121T>C (p.Val374Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000822226] |
Chr16:28477813 [GRCh38]
Chr16:28489134 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NC_000016.9:g.(?_28488817)_(28489218_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV000796142] |
Chr16:28477496..28477897 [GRCh38]
Chr16:28488817..28489218 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.114G>A (p.Ala38=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001481930] |
Chr16:28491493 [GRCh38]
Chr16:28502814 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1192C>G (p.Leu398Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000804360] |
Chr16:28477742 [GRCh38]
Chr16:28489063 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NC_000016.9:g.(?_28486664)_(28489218_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV000808629] |
Chr16:28475343..28477897 [GRCh38]
Chr16:28486664..28489218 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.837+4C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000801065] |
Chr16:28482622 [GRCh38]
Chr16:28493943 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.837+8T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001488418] |
Chr16:28482618 [GRCh38]
Chr16:28493939 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.-105T>A |
single nucleotide variant |
not provided [RCV000832774] |
Chr16:28492048 [GRCh38]
Chr16:28503369 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-144C>T |
single nucleotide variant |
not provided [RCV000839628] |
Chr16:28478021 [GRCh38]
Chr16:28489342 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.*111G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001120925] |
Chr16:28477405 [GRCh38]
Chr16:28488726 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.759C>A (p.Leu253=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001117457]|Neuronal ceroid lipofuscinosis [RCV001419724]|not provided [RCV002221608] |
Chr16:28484037 [GRCh38]
Chr16:28495358 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.*58A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001120928] |
Chr16:28477458 [GRCh38]
Chr16:28488779 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001119059] |
Chr16:28486459 [GRCh38]
Chr16:28497780 [GRCh37]
Chr16:16p12.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001042432.2(CLN3):c.641T>C (p.Leu214Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002365964]|Neuronal ceroid lipofuscinosis [RCV001214767] |
Chr16:28486383 [GRCh38]
Chr16:28497704 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1229C>T (p.Ala410Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001245803] |
Chr16:28477604 [GRCh38]
Chr16:28488925 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003346386]|Neuronal ceroid lipofuscinosis 3 [RCV001810499]|Neuronal ceroid lipofuscinosis [RCV001222663]|not provided [RCV002462842] |
Chr16:28489337 [GRCh38]
Chr16:28500658 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001042432.2(CLN3):c.209G>A (p.Gly70Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001232373] |
Chr16:28489303 [GRCh38]
Chr16:28500624 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.726A>T (p.Glu242Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001212571] |
Chr16:28484070 [GRCh38]
Chr16:28495391 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28466730-30191848)x1 |
copy number loss |
not provided [RCV000846340] |
Chr16:28466730..30191848 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.773C>T (p.Ala258Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001240414] |
Chr16:28484023 [GRCh38]
Chr16:28495344 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.62C>T (p.Pro21Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001227479] |
Chr16:28491545 [GRCh38]
Chr16:28502866 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28371467-29416001)x3 |
copy number gain |
not provided [RCV000846620] |
Chr16:28371467..29416001 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.1(CLN3):c.-279G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001117552] |
Chr16:28492222 [GRCh38]
Chr16:28503543 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28466730-30178406)x1 |
copy number loss |
not provided [RCV001006789] |
Chr16:28466730..30178406 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001116005]|Neuronal ceroid lipofuscinosis [RCV001323139] |
Chr16:28477850 [GRCh38]
Chr16:28489171 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1214G>A (p.Arg405Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001240220] |
Chr16:28477619 [GRCh38]
Chr16:28488940 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.871G>C (p.Val291Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001231497] |
Chr16:28482512 [GRCh38]
Chr16:28493833 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.43G>A (p.Glu15Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003104688] |
Chr16:28491717 [GRCh38]
Chr16:28503038 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NC_000016.9:g.(?_27441393)_(28899063_?)del |
deletion |
not provided [RCV003105580] |
Chr16:27441393..28899063 [GRCh37]
Chr16:16p12.1-11.2 |
uncertain significance |
| NM_001042432.2(CLN3):c.294+251A>T |
single nucleotide variant |
not provided [RCV001553249] |
Chr16:28488340 [GRCh38]
Chr16:28499661 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.790+281_790+292del |
deletion |
not provided [RCV001716883] |
Chr16:28483714..28483725 [GRCh38]
Chr16:28495035..28495046 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.790+288_790+292del |
deletion |
not provided [RCV001549881] |
Chr16:28483714..28483718 [GRCh38]
Chr16:28495035..28495039 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.678-336A>T |
single nucleotide variant |
not provided [RCV001561546] |
Chr16:28484454 [GRCh38]
Chr16:28495775 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.790+292del |
deletion |
not provided [RCV001639287] |
Chr16:28483714 [GRCh38]
Chr16:28495035 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.791-112G>T |
single nucleotide variant |
not provided [RCV001556700] |
Chr16:28482784 [GRCh38]
Chr16:28494105 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.294+8_294+10inv |
inversion |
Neuronal ceroid lipofuscinosis [RCV001964025] |
Chr16:28488581..28488583 [GRCh38]
Chr16:28499902..28499904 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NC_000016.10:g.28492395_28492396dup |
duplication |
not provided [RCV001566620] |
Chr16:28492376..28492377 [GRCh38]
Chr16:28503697..28503698 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.46+10C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001457237] |
Chr16:28491704 [GRCh38]
Chr16:28503025 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.223-5A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000868660] |
Chr16:28488667 [GRCh38]
Chr16:28499988 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.414C>T (p.Ser138=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000931632]|not provided [RCV001615080] |
Chr16:28487502 [GRCh38]
Chr16:28498823 [GRCh37]
Chr16:16p12.1 |
benign|likely benign |
| NM_001042432.2(CLN3):c.120C>T (p.Gly40=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001500213] |
Chr16:28491487 [GRCh38]
Chr16:28502808 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1066C>T (p.Leu356=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001412233] |
Chr16:28477868 [GRCh38]
Chr16:28489189 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.461-10C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000943876] |
Chr16:28486660 [GRCh38]
Chr16:28497981 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.69C>T (p.Pro23=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000907574]|not provided [RCV001539030] |
Chr16:28491538 [GRCh38]
Chr16:28502859 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.958C>T (p.Arg320Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001043052] |
Chr16:28482331 [GRCh38]
Chr16:28493652 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.367C>T (p.Pro123Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001239308] |
Chr16:28487669 [GRCh38]
Chr16:28498990 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1019G>A (p.Cys340Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002365695]|Neuronal ceroid lipofuscinosis [RCV001051513] |
Chr16:28482142 [GRCh38]
Chr16:28493463 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.837+3del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001209684] |
Chr16:28482623 [GRCh38]
Chr16:28493944 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.458G>A (p.Cys153Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001058936] |
Chr16:28487458 [GRCh38]
Chr16:28498779 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.375-2A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001232547] |
Chr16:28487543 [GRCh38]
Chr16:28498864 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NC_000016.10:g.(?_28477496)_(28491779_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001032794] |
Chr16:28488817..28503100 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.373del (p.Ser125fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV000989588] |
Chr16:28487663 [GRCh38]
Chr16:28498984 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.461-7C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001491851] |
Chr16:28486657 [GRCh38]
Chr16:28497978 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.790+168C>T |
single nucleotide variant |
not provided [RCV001562198] |
Chr16:28483838 [GRCh38]
Chr16:28495159 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.294+265_294+266insT |
insertion |
not provided [RCV001556947] |
Chr16:28488325..28488326 [GRCh38]
Chr16:28499646..28499647 [GRCh37]
Chr16:16p12.1 |
likely benign |
| GRCh37/hg19 16p11.2(chr16:28490480-29379768)x1 |
copy number loss |
not provided [RCV002472918] |
Chr16:28490480..29379768 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.1056+118del |
deletion |
not provided [RCV001560198] |
Chr16:28481987 [GRCh38]
Chr16:28493308 [GRCh37]
Chr16:16p12.1 |
likely benign |
| GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1 |
copy number loss |
not provided [RCV002472634] |
Chr16:28466731..30321320 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 |
copy number gain |
not provided [RCV002472599] |
Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.899del (p.Gln300fs) |
deletion |
not provided [RCV001009271] |
Chr16:28482484 [GRCh38]
Chr16:28493805 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NC_000016.10:g.28492377T>C |
single nucleotide variant |
not provided [RCV001714020] |
Chr16:28492377 [GRCh38]
Chr16:28503698 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.47-60C>G |
single nucleotide variant |
not provided [RCV001655425] |
Chr16:28491620 [GRCh38]
Chr16:28502941 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.1056+102dup |
duplication |
not provided [RCV001717629] |
Chr16:28481986..28481987 [GRCh38]
Chr16:28493307..28493308 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.1057-302A>G |
single nucleotide variant |
not provided [RCV001591954] |
Chr16:28478179 [GRCh38]
Chr16:28489500 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1197+2T>A |
single nucleotide variant |
Cone-rod dystrophy [RCV001199455]|not provided [RCV001091645] |
Chr16:28477735 [GRCh38]
Chr16:28489056 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.922_923del (p.Phe308fs) |
deletion |
Cone-rod dystrophy [RCV001199454]|not provided [RCV001091647] |
Chr16:28482366..28482367 [GRCh38]
Chr16:28493687..28493688 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28497668-28497971)x1 |
copy number loss |
not provided [RCV001092323] |
Chr16:28497668..28497971 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.913CTC[1] (p.Leu306del) |
microsatellite |
Intellectual disability [RCV001251940] |
Chr16:28482371..28482373 [GRCh38]
Chr16:28493692..28493694 [GRCh37]
Chr16:16p12.1 |
likely benign |
| GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3 |
copy number gain |
not provided [RCV001006786] |
Chr16:21576802..29351826 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) |
copy number gain |
Microcephaly [RCV001252948] |
Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.362T>G (p.Leu121Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001049634] |
Chr16:28487674 [GRCh38]
Chr16:28498995 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.125+1G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV003469396]|Neuronal ceroid lipofuscinosis [RCV001225343] |
Chr16:28491481 [GRCh38]
Chr16:28502802 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.238A>G (p.Thr80Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001220854] |
Chr16:28488647 [GRCh38]
Chr16:28499968 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NC_000016.10:g.(?_28475343)_(28484138_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001033946] |
Chr16:28486664..28495459 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.397A>G (p.Ile133Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001038613] |
Chr16:28487519 [GRCh38]
Chr16:28498840 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NC_000016.10:g.28492396dup |
duplication |
not provided [RCV001713267] |
Chr16:28492376..28492377 [GRCh38]
Chr16:28503697..28503698 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.782C>T (p.Ser261Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002553086]|Neuronal ceroid lipofuscinosis 3 [RCV001785772]|Neuronal ceroid lipofuscinosis [RCV001042505]|not provided [RCV001732023] |
Chr16:28484014 [GRCh38]
Chr16:28495335 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1268C>T (p.Ser423Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001866162]|Retinitis pigmentosa [RCV001591922] |
Chr16:28477565 [GRCh38]
Chr16:28488886 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.526T>C (p.Tyr176His) |
single nucleotide variant |
Inborn genetic diseases [RCV003259058]|Neuronal ceroid lipofuscinosis [RCV001050545] |
Chr16:28486585 [GRCh38]
Chr16:28497906 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.101A>G (p.His34Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001050603] |
Chr16:28491506 [GRCh38]
Chr16:28502827 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NC_000016.10:g.28492396del |
deletion |
not provided [RCV001612606] |
Chr16:28492377 [GRCh38]
Chr16:28503698 [GRCh37]
Chr16:16p12.1 |
benign |
| NC_000016.10:g.(?_28475343)_(28477877_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV001033134] |
Chr16:28486664..28489198 [GRCh37]
Chr16:16p11.2 |
uncertain significance |
| NC_000016.10:g.(?_28475343)_(28486650_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001033922] |
Chr16:28486664..28497971 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.1(CLN3):c.-364C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001117553] |
Chr16:28492307 [GRCh38]
Chr16:28503628 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28497668-28497972) |
copy number loss |
Neuronal ceroid lipofuscinosis 3 [RCV001195135] |
Chr16:28497668..28497972 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.320C>T (p.Pro107Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001236359] |
Chr16:28487716 [GRCh38]
Chr16:28499037 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.353G>A (p.Gly118Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001241267] |
Chr16:28487683 [GRCh38]
Chr16:28499004 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.963-2A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001057880] |
Chr16:28482200 [GRCh38]
Chr16:28493521 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.214_216del (p.Gln72del) |
deletion |
Neuronal ceroid lipofuscinosis [RCV001063908] |
Chr16:28489296..28489298 [GRCh38]
Chr16:28500617..28500619 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.191G>A (p.Ser64Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001245596] |
Chr16:28489321 [GRCh38]
Chr16:28500642 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1027C>T (p.Arg343Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001247839] |
Chr16:28482134 [GRCh38]
Chr16:28493455 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3 |
copy number gain |
not provided [RCV001249228] |
Chr16:21312200..29646379 [GRCh37]
Chr16:16p12.2-11.2 |
not provided |
| NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001116112]|Neuronal ceroid lipofuscinosis [RCV001363020] |
Chr16:28489306 [GRCh38]
Chr16:28500627 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.534-2A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV003469375]|Neuronal ceroid lipofuscinosis [RCV001219439] |
Chr16:28486492 [GRCh38]
Chr16:28497813 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.427G>A (p.Ala143Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001231262] |
Chr16:28487489 [GRCh38]
Chr16:28498810 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.737A>T (p.Glu246Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001236339] |
Chr16:28484059 [GRCh38]
Chr16:28495380 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.266G>T (p.Arg89Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001053324] |
Chr16:28488619 [GRCh38]
Chr16:28499940 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.790+2T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001784607]|Neuronal ceroid lipofuscinosis [RCV001057267] |
Chr16:28484004 [GRCh38]
Chr16:28495325 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.304C>G (p.Leu102Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001248304] |
Chr16:28487732 [GRCh38]
Chr16:28499053 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.946G>A (p.Ala316Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001207949] |
Chr16:28482343 [GRCh38]
Chr16:28493664 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.731A>C (p.Glu244Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001214493] |
Chr16:28484065 [GRCh38]
Chr16:28495386 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.867C>T (p.Val289=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001392765]|Retinal dystrophy [RCV001075530] |
Chr16:28482516 [GRCh38]
Chr16:28493837 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.1075del (p.Leu359fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV003469484]|Neuronal ceroid lipofuscinosis [RCV001251423] |
Chr16:28477859 [GRCh38]
Chr16:28489180 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 |
copy number gain |
See cases [RCV001263169] |
Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic|likely pathogenic |
| GRCh37/hg19 16p11.2(chr16:28384463-29343462)x3 |
copy number gain |
not provided [RCV001258621] |
Chr16:28384463..29343462 [GRCh37]
Chr16:16p11.2 |
uncertain significance |
| NM_001042432.2(CLN3):c.947C>G (p.Ala316Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001303159] |
Chr16:28482342 [GRCh38]
Chr16:28493663 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.962G>A (p.Trp321Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001263873] |
Chr16:28482327 [GRCh38]
Chr16:28493648 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.634A>G (p.Thr212Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001889308] |
Chr16:28486390 [GRCh38]
Chr16:28497711 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28488319-30178406)x1 |
copy number loss |
not provided [RCV001258616] |
Chr16:28488319..30178406 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28349949-29342589) |
copy number loss |
Distal 16p11.2 microdeletion syndrome [RCV002280653] |
Chr16:28349949..29342589 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28336673-29358712)x1 |
copy number loss |
not provided [RCV001258615] |
Chr16:28336673..29358712 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| Single allele |
deletion |
Intellectual disability [RCV001293372] |
Chr16:28497667..28497972 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.223-3T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001301996] |
Chr16:28488665 [GRCh38]
Chr16:28499986 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.875A>G (p.Tyr292Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001297973] |
Chr16:28482508 [GRCh38]
Chr16:28493829 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.331A>G (p.Ile111Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001296513] |
Chr16:28487705 [GRCh38]
Chr16:28499026 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.689T>G (p.Leu230Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001321524] |
Chr16:28484107 [GRCh38]
Chr16:28495428 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.647T>A (p.Met216Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001300708] |
Chr16:28486377 [GRCh38]
Chr16:28497698 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.196A>G (p.Lys66Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001315650] |
Chr16:28489316 [GRCh38]
Chr16:28500637 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| Single allele |
deletion |
not provided [RCV001449874] |
Chr16:28497667..28497971 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.1089G>T (p.Val363=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001412450] |
Chr16:28477845 [GRCh38]
Chr16:28489166 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1198-10G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001397689] |
Chr16:28477645 [GRCh38]
Chr16:28488966 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.645C>A (p.Ser215=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001414274] |
Chr16:28486379 [GRCh38]
Chr16:28497700 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.117G>A (p.Val39=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001414277] |
Chr16:28491490 [GRCh38]
Chr16:28502811 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1242C>T (p.Ile414=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001433379] |
Chr16:28477591 [GRCh38]
Chr16:28488912 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.99G>T (p.Ala33=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001414478] |
Chr16:28491508 [GRCh38]
Chr16:28502829 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1197+14G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001414495] |
Chr16:28477723 [GRCh38]
Chr16:28489044 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.317T>A (p.Leu106His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV001376527] |
Chr16:28487719 [GRCh38]
Chr16:28499040 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.125+9C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001397290] |
Chr16:28491473 [GRCh38]
Chr16:28502794 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.53A>G (p.Glu18Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001325663] |
Chr16:28491554 [GRCh38]
Chr16:28502875 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1265T>C (p.Leu422Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001298416] |
Chr16:28477568 [GRCh38]
Chr16:28488889 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.392del (p.Ser131fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV001383264] |
Chr16:28487524 [GRCh38]
Chr16:28498845 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.915C>T (p.Leu305=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001414665] |
Chr16:28482374 [GRCh38]
Chr16:28493695 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.244A>T (p.Ile82Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001297222] |
Chr16:28488641 [GRCh38]
Chr16:28499962 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV002476489]|Neuronal ceroid lipofuscinosis [RCV001318858] |
Chr16:28487537 [GRCh38]
Chr16:28498858 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.293C>A (p.Ala98Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001342290] |
Chr16:28488592 [GRCh38]
Chr16:28499913 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.505T>G (p.Phe169Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001346951] |
Chr16:28486606 [GRCh38]
Chr16:28497927 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.125+6T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001344995] |
Chr16:28491476 [GRCh38]
Chr16:28502797 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.554C>T (p.Ser185Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001320572] |
Chr16:28486470 [GRCh38]
Chr16:28497791 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1021C>T (p.Arg341Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001320573] |
Chr16:28482140 [GRCh38]
Chr16:28493461 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.790G>T (p.Gly264Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001346167] |
Chr16:28484006 [GRCh38]
Chr16:28495327 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.805C>T (p.Leu269Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001341155] |
Chr16:28482658 [GRCh38]
Chr16:28493979 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.388G>T (p.Val130Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001302299] |
Chr16:28487528 [GRCh38]
Chr16:28498849 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.391A>G (p.Ser131Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001323537] |
Chr16:28487525 [GRCh38]
Chr16:28498846 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.791-7C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV002245980]|Neuronal ceroid lipofuscinosis [RCV001370695] |
Chr16:28482679 [GRCh38]
Chr16:28494000 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.946G>T (p.Ala316Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001363811] |
Chr16:28482343 [GRCh38]
Chr16:28493664 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.159G>A (p.Val53=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001369937] |
Chr16:28489353 [GRCh38]
Chr16:28500674 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1178T>A (p.Phe393Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001366521] |
Chr16:28477756 [GRCh38]
Chr16:28489077 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.84G>A (p.Leu28=) |
single nucleotide variant |
Inborn genetic diseases [RCV002412025]|Neuronal ceroid lipofuscinosis [RCV001318424] |
Chr16:28491523 [GRCh38]
Chr16:28502844 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.1161A>G (p.Ala387=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001412375] |
Chr16:28477773 [GRCh38]
Chr16:28489094 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NC_000016.9:g.(?_28488827)_(28950294_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001387099] |
Chr16:28488827..28950294 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.421C>G (p.Leu141Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001367569] |
Chr16:28487495 [GRCh38]
Chr16:28498816 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.645C>G (p.Ser215=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001394797] |
Chr16:28486379 [GRCh38]
Chr16:28497700 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1046C>T (p.Ala349Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001367244] |
Chr16:28482115 [GRCh38]
Chr16:28493436 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.723G>T (p.Gly241=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001365385] |
Chr16:28484073 [GRCh38]
Chr16:28495394 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.375-6C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001365508] |
Chr16:28487547 [GRCh38]
Chr16:28498868 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.637C>T (p.Leu213=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001396315] |
Chr16:28486387 [GRCh38]
Chr16:28497708 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.576G>T (p.Gly192=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001326605] |
Chr16:28486448 [GRCh38]
Chr16:28497769 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.962+8G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001486534] |
Chr16:28482319 [GRCh38]
Chr16:28493640 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.678-7C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001399063] |
Chr16:28484125 [GRCh38]
Chr16:28495446 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1074C>T (p.Phe358=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001394209] |
Chr16:28477860 [GRCh38]
Chr16:28489181 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.543C>T (p.Ile181=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001399455] |
Chr16:28486481 [GRCh38]
Chr16:28497802 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.129G>A (p.Leu43=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001424667] |
Chr16:28489383 [GRCh38]
Chr16:28500704 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.213C>T (p.Asn71=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001451003] |
Chr16:28489299 [GRCh38]
Chr16:28500620 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.471C>T (p.Phe157=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001402469] |
Chr16:28486640 [GRCh38]
Chr16:28497961 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.537C>T (p.Ala179=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001502204] |
Chr16:28486487 [GRCh38]
Chr16:28497808 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1152G>C (p.Leu384=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001473589] |
Chr16:28477782 [GRCh38]
Chr16:28489103 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.144C>T (p.Asn48=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001503064] |
Chr16:28489368 [GRCh38]
Chr16:28500689 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.243G>C (p.Pro81=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001441556] |
Chr16:28488642 [GRCh38]
Chr16:28499963 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.222+9C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001455353] |
Chr16:28489281 [GRCh38]
Chr16:28500602 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.47-7C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001484952] |
Chr16:28491567 [GRCh38]
Chr16:28502888 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.387C>T (p.Leu129=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001465889] |
Chr16:28487529 [GRCh38]
Chr16:28498850 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1065C>T (p.Asn355=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001499447] |
Chr16:28477869 [GRCh38]
Chr16:28489190 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.374+9G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001458074] |
Chr16:28487653 [GRCh38]
Chr16:28498974 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.867C>G (p.Val289=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001455644] |
Chr16:28482516 [GRCh38]
Chr16:28493837 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1316G>A (p.Ter439=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001505546] |
Chr16:28477517 [GRCh38]
Chr16:28488838 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.677+9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001459866] |
Chr16:28486338 [GRCh38]
Chr16:28497659 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.147C>T (p.Asn49=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001452656] |
Chr16:28489365 [GRCh38]
Chr16:28500686 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.374+7G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001489330] |
Chr16:28487655 [GRCh38]
Chr16:28498976 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.687G>A (p.Leu229=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001397744] |
Chr16:28484109 [GRCh38]
Chr16:28495430 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-2A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001379292] |
Chr16:28477879 [GRCh38]
Chr16:28489200 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.423G>C (p.Leu141=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001442447] |
Chr16:28487493 [GRCh38]
Chr16:28498814 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1197+10G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001423603] |
Chr16:28477727 [GRCh38]
Chr16:28489048 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.102T>C (p.His34=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001485694] |
Chr16:28491505 [GRCh38]
Chr16:28502826 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1023C>T (p.Arg341=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001491717] |
Chr16:28482138 [GRCh38]
Chr16:28493459 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.461-8C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001434454] |
Chr16:28486658 [GRCh38]
Chr16:28497979 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.237A>G (p.Pro79=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001484471] |
Chr16:28488648 [GRCh38]
Chr16:28499969 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.204A>G (p.Thr68=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001416283] |
Chr16:28489308 [GRCh38]
Chr16:28500629 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.756C>T (p.Pro252=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001493575] |
Chr16:28484040 [GRCh38]
Chr16:28495361 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.969G>A (p.Gln323=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001424091] |
Chr16:28482192 [GRCh38]
Chr16:28493513 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.962+2T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001378965] |
Chr16:28482325 [GRCh38]
Chr16:28493646 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.1017C>T (p.Cys339=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001427615] |
Chr16:28482144 [GRCh38]
Chr16:28493465 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1126C>T (p.Leu376=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001443672] |
Chr16:28477808 [GRCh38]
Chr16:28489129 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1272G>A (p.Gly424=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001446255] |
Chr16:28477561 [GRCh38]
Chr16:28488882 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.43G>T (p.Glu15Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001384656] |
Chr16:28491717 [GRCh38]
Chr16:28503038 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.461-5C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001428719] |
Chr16:28486655 [GRCh38]
Chr16:28497976 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.591G>C (p.Leu197=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001409377] |
Chr16:28486433 [GRCh38]
Chr16:28497754 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1198-7C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001427931] |
Chr16:28477642 [GRCh38]
Chr16:28488963 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.992_993del (p.Phe331fs) |
deletion |
Inborn genetic diseases [RCV002384553]|Neuronal ceroid lipofuscinosis 3 [RCV003469762]|Neuronal ceroid lipofuscinosis [RCV001389676] |
Chr16:28482168..28482169 [GRCh38]
Chr16:28493489..28493490 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.582G>A (p.Leu194=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001441571] |
Chr16:28486442 [GRCh38]
Chr16:28497763 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.461-4C>A |
single nucleotide variant |
Inborn genetic diseases [RCV002341986]|Neuronal ceroid lipofuscinosis [RCV001446862] |
Chr16:28486654 [GRCh38]
Chr16:28497975 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.223-8C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV002501515]|Neuronal ceroid lipofuscinosis [RCV001428370] |
Chr16:28488670 [GRCh38]
Chr16:28499991 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1198-2A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001390150] |
Chr16:28477637 [GRCh38]
Chr16:28488958 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.790+10A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001403557] |
Chr16:28483996 [GRCh38]
Chr16:28495317 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1113C>T (p.Ile371=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001403597] |
Chr16:28477821 [GRCh38]
Chr16:28489142 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.47-9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001428559] |
Chr16:28491569 [GRCh38]
Chr16:28502890 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.685T>C (p.Leu229=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001407918] |
Chr16:28484111 [GRCh38]
Chr16:28495432 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.906+9G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001398232] |
Chr16:28482468 [GRCh38]
Chr16:28493789 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1288C>T (p.Leu430=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001442708] |
Chr16:28477545 [GRCh38]
Chr16:28488866 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.57C>G (p.Thr19=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001438893] |
Chr16:28491550 [GRCh38]
Chr16:28502871 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-5C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001448028] |
Chr16:28477882 [GRCh38]
Chr16:28489203 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1146G>T (p.Gly382=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001401717] |
Chr16:28477788 [GRCh38]
Chr16:28489109 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.592del (p.Ser198fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV001385754] |
Chr16:28486432 [GRCh38]
Chr16:28497753 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.295-59G>A |
single nucleotide variant |
not provided [RCV001608737] |
Chr16:28487800 [GRCh38]
Chr16:28499121 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.9C>T (p.Gly3=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001425945] |
Chr16:28491751 [GRCh38]
Chr16:28503072 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NC_000016.9:g.(?_28502803)_(28503080_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001387102] |
Chr16:28502803..28503080 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.1198-10G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001472550] |
Chr16:28477645 [GRCh38]
Chr16:28488966 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.711G>A (p.Gln237=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001465624] |
Chr16:28484085 [GRCh38]
Chr16:28495406 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.47-7C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001451868] |
Chr16:28491567 [GRCh38]
Chr16:28502888 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-148A>G |
single nucleotide variant |
not provided [RCV001618944] |
Chr16:28478025 [GRCh38]
Chr16:28489346 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.790+7G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001479679] |
Chr16:28483999 [GRCh38]
Chr16:28495320 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.294+236A>G |
single nucleotide variant |
not provided [RCV001538760] |
Chr16:28488355 [GRCh38]
Chr16:28499676 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.1056+10C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001455364] |
Chr16:28482095 [GRCh38]
Chr16:28493416 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.639G>C (p.Leu213=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001487406] |
Chr16:28486385 [GRCh38]
Chr16:28497706 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.461-4C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001460149] |
Chr16:28486654 [GRCh38]
Chr16:28497975 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1284G>A (p.Leu428=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001488749] |
Chr16:28477549 [GRCh38]
Chr16:28488870 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.609C>G (p.Thr203=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001467446] |
Chr16:28486415 [GRCh38]
Chr16:28497736 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.611A>C (p.Gln204Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002300558]|Retinitis pigmentosa [RCV001591921] |
Chr16:28486413 [GRCh38]
Chr16:28497734 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.791-6del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001453941] |
Chr16:28482678 [GRCh38]
Chr16:28493999 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.618C>T (p.Gly206=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001505576] |
Chr16:28486406 [GRCh38]
Chr16:28497727 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.651G>C (p.Leu217=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001427286] |
Chr16:28486373 [GRCh38]
Chr16:28497694 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1035C>T (p.Thr345=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001442043] |
Chr16:28482126 [GRCh38]
Chr16:28493447 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1188C>T (p.Ile396=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001481261] |
Chr16:28477746 [GRCh38]
Chr16:28489067 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.798C>T (p.Ser266=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001424977] |
Chr16:28482665 [GRCh38]
Chr16:28493986 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.790+9C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001419166] |
Chr16:28483997 [GRCh38]
Chr16:28495318 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.657C>T (p.Ile219=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001504650] |
Chr16:28486367 [GRCh38]
Chr16:28497688 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.843G>T (p.Leu281=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001490604] |
Chr16:28482540 [GRCh38]
Chr16:28493861 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1086C>T (p.Asp362=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001495376] |
Chr16:28477848 [GRCh38]
Chr16:28489169 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.66G>A (p.Glu22=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001442450] |
Chr16:28491541 [GRCh38]
Chr16:28502862 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.339G>A (p.Leu113=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001462816] |
Chr16:28487697 [GRCh38]
Chr16:28499018 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.375-10A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001454067] |
Chr16:28487551 [GRCh38]
Chr16:28498872 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1233C>T (p.Ala411=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001440110] |
Chr16:28477600 [GRCh38]
Chr16:28488921 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.790+7G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001482312] |
Chr16:28483999 [GRCh38]
Chr16:28495320 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1116C>T (p.Tyr372=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001483264] |
Chr16:28477818 [GRCh38]
Chr16:28489139 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.21G>C (p.Ser7=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001401802] |
Chr16:28491739 [GRCh38]
Chr16:28503060 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.18C>A (p.Gly6=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001434312] |
Chr16:28491742 [GRCh38]
Chr16:28503063 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NC_000016.9:g.(?_28484798)_28497560del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001387100] |
|
pathogenic |
| NC_000016.9:g.(?_28493426)_(28493993_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001387101] |
Chr16:28493426..28493993 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.374+7G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001406728] |
Chr16:28487655 [GRCh38]
Chr16:28498976 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.108G>A (p.Lys36=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001496676] |
Chr16:28491499 [GRCh38]
Chr16:28502820 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.223-7C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001452244] |
Chr16:28488669 [GRCh38]
Chr16:28499990 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.791-8C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001400820] |
Chr16:28482680 [GRCh38]
Chr16:28494001 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.962+10G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001497279] |
Chr16:28482317 [GRCh38]
Chr16:28493638 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.915C>G (p.Leu305=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001468207] |
Chr16:28482374 [GRCh38]
Chr16:28493695 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.321C>T (p.Pro107=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001430770] |
Chr16:28487715 [GRCh38]
Chr16:28499036 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1263C>T (p.Ser421=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001394235] |
Chr16:28477570 [GRCh38]
Chr16:28488891 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.688T>C (p.Leu230=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001438897] |
Chr16:28484108 [GRCh38]
Chr16:28495429 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1099T>C (p.Phe367Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003106875] |
Chr16:28477835 [GRCh38]
Chr16:28489156 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.294+4C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003104880] |
Chr16:28488587 [GRCh38]
Chr16:28499908 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.294+5G>T |
single nucleotide variant |
not provided [RCV001768505] |
Chr16:28488586 [GRCh38]
Chr16:28499907 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.377C>T (p.Pro126Leu) |
single nucleotide variant |
not provided [RCV001763108] |
Chr16:28487539 [GRCh38]
Chr16:28498860 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1205A>G (p.Asp402Gly) |
single nucleotide variant |
not provided [RCV001763318] |
Chr16:28477628 [GRCh38]
Chr16:28488949 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3 |
copy number gain |
Distal 16p11.2 microdeletion syndrome [RCV001801190] |
Chr16:28353878..29478115 [GRCh37]
Chr16:16p11.2 |
likely pathogenic |
| NM_001042432.2(CLN3):c.964T>C (p.Tyr322His) |
single nucleotide variant |
not provided [RCV001752151] |
Chr16:28482197 [GRCh38]
Chr16:28493518 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.550T>C (p.Trp184Arg) |
single nucleotide variant |
not provided [RCV001765572] |
Chr16:28486474 [GRCh38]
Chr16:28497795 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.545C>G (p.Ser182Cys) |
single nucleotide variant |
not provided [RCV001765231] |
Chr16:28486479 [GRCh38]
Chr16:28497800 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.950A>G (p.Gln317Arg) |
single nucleotide variant |
not provided [RCV001769216] |
Chr16:28482339 [GRCh38]
Chr16:28493660 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.793T>G (p.Ser265Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001868449]|not provided [RCV001765731] |
Chr16:28482670 [GRCh38]
Chr16:28493991 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1 |
copy number loss |
not provided [RCV001795549] |
Chr16:21594997..29625302 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.954A>T (p.Gln318His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002023982] |
Chr16:28482335 [GRCh38]
Chr16:28493656 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.358C>A (p.His120Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001874953] |
Chr16:28487678 [GRCh38]
Chr16:28498999 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.375-5C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001988332] |
Chr16:28487546 [GRCh38]
Chr16:28498867 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.7G>C (p.Gly3Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002001655] |
Chr16:28491753 [GRCh38]
Chr16:28503074 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1096G>A (p.Gly366Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002001908] |
Chr16:28477838 [GRCh38]
Chr16:28489159 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.825G>A (p.Trp275Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002007566] |
Chr16:28482638 [GRCh38]
Chr16:28493959 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.734C>A (p.Ala245Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001911207] |
Chr16:28484062 [GRCh38]
Chr16:28495383 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.671T>C (p.Leu224Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001945930] |
Chr16:28486353 [GRCh38]
Chr16:28497674 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.41C>T (p.Ser14Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001896317] |
Chr16:28491719 [GRCh38]
Chr16:28503040 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.322A>G (p.Thr108Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001948408] |
Chr16:28487714 [GRCh38]
Chr16:28499035 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28485883-29416001)x1 |
copy number loss |
not provided [RCV001829191] |
Chr16:28485883..29416001 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.482C>T (p.Ser161Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001908778] |
Chr16:28486629 [GRCh38]
Chr16:28497950 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.538G>A (p.Val180Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV002497812]|Neuronal ceroid lipofuscinosis [RCV001965274] |
Chr16:28486486 [GRCh38]
Chr16:28497807 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.698C>A (p.Ser233Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001909207] |
Chr16:28484098 [GRCh38]
Chr16:28495419 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.451A>T (p.Ser151Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001985951] |
Chr16:28487465 [GRCh38]
Chr16:28498786 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.752A>C (p.Gln251Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001889354] |
Chr16:28484044 [GRCh38]
Chr16:28495365 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.943C>G (p.His315Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001968393] |
Chr16:28482346 [GRCh38]
Chr16:28493667 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.146A>G (p.Asn49Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001926761] |
Chr16:28489366 [GRCh38]
Chr16:28500687 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28384465-29351826)x3 |
copy number gain |
not provided [RCV001827743] |
Chr16:28384465..29351826 [GRCh37]
Chr16:16p11.2 |
uncertain significance |
| NC_000016.9:g.(?_28498767)_(28499072_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001949453] |
Chr16:28498767..28499072 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.260C>T (p.Ser87Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001983317] |
Chr16:28488625 [GRCh38]
Chr16:28499946 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.859C>A (p.Pro287Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001889755] |
Chr16:28482524 [GRCh38]
Chr16:28493845 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.533+3_533+10del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001926739] |
Chr16:28486568..28486575 [GRCh38]
Chr16:28497889..28497896 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.295-3C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001910598] |
Chr16:28487744 [GRCh38]
Chr16:28499065 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1107A>C (p.Pro369=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001983950] |
Chr16:28477827 [GRCh38]
Chr16:28489148 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.30del (p.Ser12fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV002007404] |
Chr16:28491730 [GRCh38]
Chr16:28503051 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28485883-29589674)x1 |
copy number loss |
not provided [RCV001834285] |
Chr16:28485883..29589674 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.757C>G (p.Leu253Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001965791] |
Chr16:28484039 [GRCh38]
Chr16:28495360 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.294+5G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002002047] |
Chr16:28488586 [GRCh38]
Chr16:28499907 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.500T>A (p.Val167Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001891503] |
Chr16:28486611 [GRCh38]
Chr16:28497932 [GRCh37]
Chr16:16p12.1 |
likely pathogenic|uncertain significance |
| NM_001042432.2(CLN3):c.538G>C (p.Val180Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001989636] |
Chr16:28486486 [GRCh38]
Chr16:28497807 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.755C>T (p.Pro252Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002001220] |
Chr16:28484041 [GRCh38]
Chr16:28495362 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.197A>G (p.Lys66Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002545387]|Neuronal ceroid lipofuscinosis [RCV002047051] |
Chr16:28489315 [GRCh38]
Chr16:28500636 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NC_000016.9:g.(?_28495307)_(28495459_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001938659] |
Chr16:28495307..28495459 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.1056+6A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001998912] |
Chr16:28482099 [GRCh38]
Chr16:28493420 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NC_000016.9:g.(?_28488837)_(28495459_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001999949] |
Chr16:28488837..28495459 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.956A>G (p.Tyr319Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001997362] |
Chr16:28482333 [GRCh38]
Chr16:28493654 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1164C>A (p.Ala388=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001963731] |
Chr16:28477770 [GRCh38]
Chr16:28489091 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.403G>A (p.Ala135Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001997500] |
Chr16:28487513 [GRCh38]
Chr16:28498834 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.181G>A (p.Asp61Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001952199] |
Chr16:28489331 [GRCh38]
Chr16:28500652 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.962+11C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001884542] |
Chr16:28482316 [GRCh38]
Chr16:28493637 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.776C>A (p.Pro259Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001962090] |
Chr16:28484020 [GRCh38]
Chr16:28495341 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NC_000016.9:g.(?_28499902)_(28503090_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV002000589] |
Chr16:28499902..28503090 [GRCh37]
Chr16:16p11.2 |
uncertain significance |
| NM_001042432.2(CLN3):c.497A>G (p.Glu166Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001888301] |
Chr16:28486614 [GRCh38]
Chr16:28497935 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.906+2T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001961679] |
Chr16:28482475 [GRCh38]
Chr16:28493796 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.54G>T (p.Glu18Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002037983] |
Chr16:28491553 [GRCh38]
Chr16:28502874 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.253A>C (p.Asn85His) |
single nucleotide variant |
Inborn genetic diseases [RCV002458689]|Neuronal ceroid lipofuscinosis [RCV001878859] |
Chr16:28488632 [GRCh38]
Chr16:28499953 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1198-3C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001954160] |
Chr16:28477638 [GRCh38]
Chr16:28488959 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.277A>G (p.Asn93Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001917823]|not provided [RCV002272524] |
Chr16:28488608 [GRCh38]
Chr16:28499929 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.328G>A (p.Val110Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001875134] |
Chr16:28487708 [GRCh38]
Chr16:28499029 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.589C>G (p.Leu197Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001864889] |
Chr16:28486435 [GRCh38]
Chr16:28497756 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.860C>T (p.Pro287Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002031267] |
Chr16:28482523 [GRCh38]
Chr16:28493844 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.639del (p.Leu214fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV003470987]|Neuronal ceroid lipofuscinosis [RCV001881320] |
Chr16:28486385 [GRCh38]
Chr16:28497706 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NC_000016.9:g.(?_28488837)_(28511261_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV001916254] |
Chr16:28488837..28511261 [GRCh37]
Chr16:16p11.2 |
uncertain significance |
| NM_001042432.2(CLN3):c.884A>G (p.Glu295Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001885680] |
Chr16:28482499 [GRCh38]
Chr16:28493820 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.646A>G (p.Met216Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001931151] |
Chr16:28486378 [GRCh38]
Chr16:28497699 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.962+4A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001916675] |
Chr16:28482323 [GRCh38]
Chr16:28493644 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.620T>C (p.Leu207Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002036786] |
Chr16:28486404 [GRCh38]
Chr16:28497725 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.397A>T (p.Ile133Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001981290] |
Chr16:28487519 [GRCh38]
Chr16:28498840 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1183A>G (p.Asn395Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002031215] |
Chr16:28477751 [GRCh38]
Chr16:28489072 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.749G>A (p.Arg250Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001925858] |
Chr16:28484047 [GRCh38]
Chr16:28495368 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1097G>T (p.Gly366Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001900929] |
Chr16:28477837 [GRCh38]
Chr16:28489158 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.439T>G (p.Ser147Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001997204] |
Chr16:28487477 [GRCh38]
Chr16:28498798 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.46+11C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001950975] |
Chr16:28491703 [GRCh38]
Chr16:28503024 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.749G>C (p.Arg250Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001881722] |
Chr16:28484047 [GRCh38]
Chr16:28495368 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.815G>A (p.Arg272Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002557603]|Neuronal ceroid lipofuscinosis [RCV001916002] |
Chr16:28482648 [GRCh38]
Chr16:28493969 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.105del (p.His34_Trp35insTer) |
deletion |
Neuronal ceroid lipofuscinosis [RCV001875545] |
Chr16:28491502 [GRCh38]
Chr16:28502823 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.533+6C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001989781] |
Chr16:28486572 [GRCh38]
Chr16:28497893 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.907-2A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002016097] |
Chr16:28482384 [GRCh38]
Chr16:28493705 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.433T>C (p.Ser145Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001996796] |
Chr16:28487483 [GRCh38]
Chr16:28498804 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.740G>A (p.Ser247Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001904522] |
Chr16:28484056 [GRCh38]
Chr16:28495377 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1108A>G (p.Ser370Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001924732] |
Chr16:28477826 [GRCh38]
Chr16:28489147 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.985_988del (p.Gly329fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV001938804] |
Chr16:28482173..28482176 [GRCh38]
Chr16:28493494..28493497 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.7G>A (p.Gly3Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001997578] |
Chr16:28491753 [GRCh38]
Chr16:28503074 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.709C>T (p.Gln237Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001981877] |
Chr16:28484087 [GRCh38]
Chr16:28495408 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.1257G>T (p.Gly419=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002045859] |
Chr16:28477576 [GRCh38]
Chr16:28488897 [GRCh37]
Chr16:16p12.1 |
likely benign|uncertain significance |
| NM_001042432.2(CLN3):c.1184A>T (p.Asn395Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001991625] |
Chr16:28477750 [GRCh38]
Chr16:28489071 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.406G>T (p.Ala136Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001882211] |
Chr16:28487510 [GRCh38]
Chr16:28498831 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1056+1G>T |
single nucleotide variant |
Inborn genetic diseases [RCV002569254]|Neuronal ceroid lipofuscinosis [RCV001990458] |
Chr16:28482104 [GRCh38]
Chr16:28493425 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.1160C>T (p.Ala387Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002049434] |
Chr16:28477774 [GRCh38]
Chr16:28489095 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.850T>C (p.Tyr284His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001917250] |
Chr16:28482533 [GRCh38]
Chr16:28493854 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1302C>A (p.Leu434=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002091769] |
Chr16:28477531 [GRCh38]
Chr16:28488852 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.261A>T (p.Ser87=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002168069] |
Chr16:28488624 [GRCh38]
Chr16:28499945 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.534-20T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002129148] |
Chr16:28486510 [GRCh38]
Chr16:28497831 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.127C>T (p.Leu43=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002168471] |
Chr16:28489385 [GRCh38]
Chr16:28500706 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.375-13C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002145437] |
Chr16:28487554 [GRCh38]
Chr16:28498875 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.513C>T (p.Ser171=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002106095] |
Chr16:28486598 [GRCh38]
Chr16:28497919 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.907-7G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002091378] |
Chr16:28482389 [GRCh38]
Chr16:28493710 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.460+9G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002210058] |
Chr16:28487447 [GRCh38]
Chr16:28498768 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-18C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002210044] |
Chr16:28477895 [GRCh38]
Chr16:28489216 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.936C>T (p.Ser312=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002207590] |
Chr16:28482353 [GRCh38]
Chr16:28493674 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1149C>T (p.Leu383=) |
single nucleotide variant |
Inborn genetic diseases [RCV002454487]|Neuronal ceroid lipofuscinosis [RCV002166108] |
Chr16:28477785 [GRCh38]
Chr16:28489106 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.46+7A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002106291] |
Chr16:28491707 [GRCh38]
Chr16:28503028 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.533+10T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002106473] |
Chr16:28486568 [GRCh38]
Chr16:28497889 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.47-13C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002191997] |
Chr16:28491573 [GRCh38]
Chr16:28502894 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.984T>A (p.Ala328=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002148322] |
Chr16:28482177 [GRCh38]
Chr16:28493498 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.804C>T (p.Ser268=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002189858] |
Chr16:28482659 [GRCh38]
Chr16:28493980 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.846G>A (p.Leu282=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002187417] |
Chr16:28482537 [GRCh38]
Chr16:28493858 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.963-15C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002088749] |
Chr16:28482213 [GRCh38]
Chr16:28493534 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1198-9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002071378] |
Chr16:28477644 [GRCh38]
Chr16:28488965 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.374+15A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002132670] |
Chr16:28487647 [GRCh38]
Chr16:28498968 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1197+13C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002174470] |
Chr16:28477724 [GRCh38]
Chr16:28489045 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.963-17C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002174498] |
Chr16:28482215 [GRCh38]
Chr16:28493536 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.156T>C (p.Tyr52=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002126166] |
Chr16:28489356 [GRCh38]
Chr16:28500677 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.576G>A (p.Gly192=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002088136] |
Chr16:28486448 [GRCh38]
Chr16:28497769 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.46+18C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002165913] |
Chr16:28491696 [GRCh38]
Chr16:28503017 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.501C>T (p.Val167=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002213413] |
Chr16:28486610 [GRCh38]
Chr16:28497931 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1048C>T (p.Leu350=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002087182] |
Chr16:28482113 [GRCh38]
Chr16:28493434 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.930C>T (p.Asn310=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002151387] |
Chr16:28482359 [GRCh38]
Chr16:28493680 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.295-12C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002206886] |
Chr16:28487753 [GRCh38]
Chr16:28499074 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.324A>G (p.Thr108=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002109974] |
Chr16:28487712 [GRCh38]
Chr16:28499033 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.678-19G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002109988] |
Chr16:28484137 [GRCh38]
Chr16:28495458 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.962+12G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002135229] |
Chr16:28482315 [GRCh38]
Chr16:28493636 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-18C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002095180] |
Chr16:28477895 [GRCh38]
Chr16:28489216 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.461-16C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002095367] |
Chr16:28486666 [GRCh38]
Chr16:28497987 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.15A>T (p.Ala5=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002173465] |
Chr16:28491745 [GRCh38]
Chr16:28503066 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.783G>A (p.Ser261=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002072629] |
Chr16:28484013 [GRCh38]
Chr16:28495334 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.906+10G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002093043] |
Chr16:28482467 [GRCh38]
Chr16:28493788 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.717T>C (p.Pro239=) |
single nucleotide variant |
Inborn genetic diseases [RCV002372909]|Neuronal ceroid lipofuscinosis [RCV002112476] |
Chr16:28484079 [GRCh38]
Chr16:28495400 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.374+14T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002133122] |
Chr16:28487648 [GRCh38]
Chr16:28498969 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.843G>A (p.Leu281=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002093236] |
Chr16:28482540 [GRCh38]
Chr16:28493861 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.677+17C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002112681] |
Chr16:28486330 [GRCh38]
Chr16:28497651 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.837+9dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV002129504] |
Chr16:28482616..28482617 [GRCh38]
Chr16:28493937..28493938 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.906+18G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002212006] |
Chr16:28482459 [GRCh38]
Chr16:28493780 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.375-7C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002109920] |
Chr16:28487548 [GRCh38]
Chr16:28498869 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.999C>A (p.Ser333=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002191755] |
Chr16:28482162 [GRCh38]
Chr16:28493483 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-16C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002133963] |
Chr16:28477893 [GRCh38]
Chr16:28489214 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.294+12_294+14del |
deletion |
Neuronal ceroid lipofuscinosis [RCV002131370] |
Chr16:28488577..28488579 [GRCh38]
Chr16:28499898..28499900 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.46+13G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002194475] |
Chr16:28491701 [GRCh38]
Chr16:28503022 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.264A>G (p.Ser88=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002193478] |
Chr16:28488621 [GRCh38]
Chr16:28499942 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.375-11C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002212997] |
Chr16:28487552 [GRCh38]
Chr16:28498873 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1179C>T (p.Phe393=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002178965] |
Chr16:28477755 [GRCh38]
Chr16:28489076 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.838-12T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002119475] |
Chr16:28482557 [GRCh38]
Chr16:28493878 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.374+16G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002081472] |
Chr16:28487646 [GRCh38]
Chr16:28498967 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.177C>T (p.Ala59=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002083593] |
Chr16:28489335 [GRCh38]
Chr16:28500656 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.791-9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002135854] |
Chr16:28482681 [GRCh38]
Chr16:28494002 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.677+18G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002098438] |
Chr16:28486329 [GRCh38]
Chr16:28497650 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1197+17C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002139485] |
Chr16:28477720 [GRCh38]
Chr16:28489041 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.963-17C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002100692] |
Chr16:28482215 [GRCh38]
Chr16:28493536 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-11C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002155064] |
Chr16:28477888 [GRCh38]
Chr16:28489209 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.792C>T (p.Gly264=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002160988] |
Chr16:28482671 [GRCh38]
Chr16:28493992 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1185C>T (p.Asn395=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002101359] |
Chr16:28477749 [GRCh38]
Chr16:28489070 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.375-4del |
deletion |
Neuronal ceroid lipofuscinosis [RCV002175407] |
Chr16:28487545 [GRCh38]
Chr16:28498866 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.790+9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002135927] |
Chr16:28483997 [GRCh38]
Chr16:28495318 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.382dup (p.Val128fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV002249366] |
Chr16:28487533..28487534 [GRCh38]
Chr16:28498854..28498855 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.1005T>C (p.Ser335=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002198668] |
Chr16:28482156 [GRCh38]
Chr16:28493477 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.273C>T (p.Asp91=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002156910] |
Chr16:28488612 [GRCh38]
Chr16:28499933 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1173C>T (p.Asn391=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002143976] |
Chr16:28477761 [GRCh38]
Chr16:28489082 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.125+16C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002144521] |
Chr16:28491466 [GRCh38]
Chr16:28502787 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1215G>C (p.Arg405=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002084001] |
Chr16:28477618 [GRCh38]
Chr16:28488939 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.375-8C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002202293] |
Chr16:28487549 [GRCh38]
Chr16:28498870 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.589C>T (p.Leu197=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002221090] |
Chr16:28486435 [GRCh38]
Chr16:28497756 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.461-5C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002203868] |
Chr16:28486655 [GRCh38]
Chr16:28497976 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1071G>T (p.Val357=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002143248] |
Chr16:28477863 [GRCh38]
Chr16:28489184 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.461-3del |
deletion |
Neuronal ceroid lipofuscinosis [RCV002136945] |
Chr16:28486653 [GRCh38]
Chr16:28497974 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.411A>G (p.Gly137=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002137319] |
Chr16:28487505 [GRCh38]
Chr16:28498826 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.906+16T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002137091] |
Chr16:28482461 [GRCh38]
Chr16:28493782 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1200C>A (p.Thr400=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002162363] |
Chr16:28477633 [GRCh38]
Chr16:28488954 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.125+13A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002139850] |
Chr16:28491469 [GRCh38]
Chr16:28502790 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.990C>G (p.Val330=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002082658] |
Chr16:28482171 [GRCh38]
Chr16:28493492 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.558A>G (p.Ser186=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002199240] |
Chr16:28486466 [GRCh38]
Chr16:28497787 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.678-6T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002176502] |
Chr16:28484124 [GRCh38]
Chr16:28495445 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.46+5G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003110515] |
Chr16:28491709 [GRCh38]
Chr16:28503030 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV003466009]|Neuronal ceroid lipofuscinosis [RCV003112008] |
Chr16:28486473 [GRCh38]
Chr16:28497794 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NC_000016.9:g.(?_28488827)_(28489208_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003122396] |
Chr16:28488827..28489208 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NC_000016.9:g.(?_28495317)_(28500717_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003122398] |
Chr16:28495317..28500717 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NC_000016.9:g.(?_28488837)_(28495459_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV003122399] |
Chr16:28488837..28495459 [GRCh37]
Chr16:16p11.2 |
uncertain significance |
| NC_000016.9:g.(?_27441393)_(29001333_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003122400] |
Chr16:27441393..29001333 [GRCh37]
Chr16:16p12.1-11.2 |
pathogenic |
| NC_000016.9:g.(?_28493416)_(28494003_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003122401] |
Chr16:28493416..28494003 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NC_000016.9:g.(?_28488837)_(28489218_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV003122402] |
Chr16:28488837..28489218 [GRCh37]
Chr16:16p11.2 |
uncertain significance |
| NC_000016.9:g.(?_28488599)_(28495440_28497667)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV002281744] |
Chr16:28488599..28495440 [GRCh37]
Chr16:16p11.2 |
likely pathogenic |
| NM_001042432.2(CLN3):c.954dup (p.Tyr319fs) |
duplication |
Inborn genetic diseases [RCV002385174] |
Chr16:28482334..28482335 [GRCh38]
Chr16:28493655..28493656 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28483659-29341550)x1 |
copy number loss |
not provided [RCV002291542] |
Chr16:28483659..29341550 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.1147C>T (p.Leu383Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002681783] |
Chr16:28477787 [GRCh38]
Chr16:28489108 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh37/hg19 16p11.2(chr16:28486929-29351826)x1 |
copy number loss |
not provided [RCV002472640] |
Chr16:28486929..29351826 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28384464-29432245)x3 |
copy number gain |
not provided [RCV002474709] |
Chr16:28384464..29432245 [GRCh37]
Chr16:16p11.2 |
uncertain significance |
| GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 |
copy number gain |
not provided [RCV002474541] |
Chr16:21576803..30177240 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.1088T>G (p.Val363Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002301253] |
Chr16:28477846 [GRCh38]
Chr16:28489167 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.849del (p.Trp283fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV002310327] |
Chr16:28482534 [GRCh38]
Chr16:28493855 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.476G>C (p.Ser159Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002337722] |
Chr16:28486635 [GRCh38]
Chr16:28497956 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1166A>T (p.Tyr389Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002295813] |
Chr16:28477768 [GRCh38]
Chr16:28489089 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1038G>A (p.Trp346Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV002307168] |
Chr16:28482123 [GRCh38]
Chr16:28493444 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV002308239] |
Chr16:28486414 [GRCh38]
Chr16:28497735 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.852C>G (p.Tyr284Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV002308345] |
Chr16:28482531 [GRCh38]
Chr16:28493852 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.276C>A (p.Cys92Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV002308399] |
Chr16:28488609 [GRCh38]
Chr16:28499930 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.528C>A (p.Tyr176Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV002310399] |
Chr16:28486583 [GRCh38]
Chr16:28497904 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.293C>T (p.Ala98Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002904308] |
Chr16:28488592 [GRCh38]
Chr16:28499913 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.608C>T (p.Thr203Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002903008] |
Chr16:28486416 [GRCh38]
Chr16:28497737 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.784A>G (p.Lys262Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003033464] |
Chr16:28484012 [GRCh38]
Chr16:28495333 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.967C>T (p.Gln323Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002994396] |
Chr16:28482194 [GRCh38]
Chr16:28493515 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.791-2A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002861758] |
Chr16:28482674 [GRCh38]
Chr16:28493995 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV003465843]|Neuronal ceroid lipofuscinosis [RCV002838904] |
Chr16:28477815..28477816 [GRCh38]
Chr16:28489136..28489137 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.1122C>T (p.Val374=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002858480] |
Chr16:28477812 [GRCh38]
Chr16:28489133 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.196A>C (p.Lys66Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002861357] |
Chr16:28489316 [GRCh38]
Chr16:28500637 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1267dup (p.Ser423fs) |
duplication |
Neuronal ceroid lipofuscinosis [RCV002776358] |
Chr16:28477565..28477566 [GRCh38]
Chr16:28488886..28488887 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.386_387delinsCT (p.Leu129Pro) |
indel |
Neuronal ceroid lipofuscinosis [RCV003034503] |
Chr16:28487529..28487530 [GRCh38]
Chr16:28498850..28498851 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.323C>T (p.Thr108Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002907492]|Neuronal ceroid lipofuscinosis [RCV003111719] |
Chr16:28487713 [GRCh38]
Chr16:28499034 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.452G>A (p.Ser151Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002905656] |
Chr16:28487464 [GRCh38]
Chr16:28498785 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1128G>A (p.Leu376=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002819680] |
Chr16:28477806 [GRCh38]
Chr16:28489127 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.838-11G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003077028] |
Chr16:28482556 [GRCh38]
Chr16:28493877 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV003465858]|Neuronal ceroid lipofuscinosis [RCV002881369] |
Chr16:28486472 [GRCh38]
Chr16:28497793 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.573T>C (p.Ala191=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002842550] |
Chr16:28486451 [GRCh38]
Chr16:28497772 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.460+10T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002880927] |
Chr16:28487446 [GRCh38]
Chr16:28498767 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.739A>C (p.Ser247Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002615887] |
Chr16:28484057 [GRCh38]
Chr16:28495378 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.18del (p.Ser7fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV003465838]|Neuronal ceroid lipofuscinosis [RCV002815571] |
Chr16:28491742 [GRCh38]
Chr16:28503063 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.166C>T (p.Leu56=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002837969] |
Chr16:28489346 [GRCh38]
Chr16:28500667 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.295-5C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002904788] |
Chr16:28487746 [GRCh38]
Chr16:28499067 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.354C>T (p.Gly118=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003015051] |
Chr16:28487682 [GRCh38]
Chr16:28499003 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.907-3C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002880734] |
Chr16:28482385 [GRCh38]
Chr16:28493706 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.223-6del |
deletion |
Neuronal ceroid lipofuscinosis [RCV002819429] |
Chr16:28488668 [GRCh38]
Chr16:28499989 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.931A>G (p.Thr311Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002775297] |
Chr16:28482358 [GRCh38]
Chr16:28493679 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.722G>A (p.Gly241Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002778432] |
Chr16:28484074 [GRCh38]
Chr16:28495395 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.837+13G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003076071] |
Chr16:28482613 [GRCh38]
Chr16:28493934 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.46+11C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002755426] |
Chr16:28491703 [GRCh38]
Chr16:28503024 [GRCh37]
Chr16:16p12.1 |
likely benign |
| GRCh37/hg19 16p11.2(chr16:28371468-29342589)x3 |
copy number gain |
not provided [RCV002475767] |
Chr16:28371468..29342589 [GRCh37]
Chr16:16p11.2 |
uncertain significance |
| NM_001042432.2(CLN3):c.6A>G (p.Gly2=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002871337] |
Chr16:28491754 [GRCh38]
Chr16:28503075 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.120C>G (p.Gly40=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002889389] |
Chr16:28491487 [GRCh38]
Chr16:28502808 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.375-5del |
deletion |
Neuronal ceroid lipofuscinosis [RCV002889707] |
Chr16:28487546 [GRCh38]
Chr16:28498867 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.944_945insGA (p.His315fs) |
insertion |
Neuronal ceroid lipofuscinosis [RCV003055459] |
Chr16:28482344..28482345 [GRCh38]
Chr16:28493665..28493666 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.1189G>A (p.Ala397Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002913062] |
Chr16:28477745 [GRCh38]
Chr16:28489066 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1057-17T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002926593] |
Chr16:28477894 [GRCh38]
Chr16:28489215 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1192C>T (p.Leu398=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003035475] |
Chr16:28477742 [GRCh38]
Chr16:28489063 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.317dup (p.Thr108fs) |
duplication |
Neuronal ceroid lipofuscinosis [RCV002820291] |
Chr16:28487718..28487719 [GRCh38]
Chr16:28499039..28499040 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.1137G>C (p.Leu379=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002620819] |
Chr16:28477797 [GRCh38]
Chr16:28489118 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.885G>A (p.Glu295=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002736716] |
Chr16:28482498 [GRCh38]
Chr16:28493819 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.143A>T (p.Asn48Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003036446] |
Chr16:28489369 [GRCh38]
Chr16:28500690 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1198-16C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003078688] |
Chr16:28477651 [GRCh38]
Chr16:28488972 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1032C>T (p.Phe344=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002847124] |
Chr16:28482129 [GRCh38]
Chr16:28493450 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1168G>C (p.Val390Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002869320] |
Chr16:28477766 [GRCh38]
Chr16:28489087 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.837+9G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003052872] |
Chr16:28482617 [GRCh38]
Chr16:28493938 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.794C>T (p.Ser265Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003079004] |
Chr16:28482669 [GRCh38]
Chr16:28493990 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.461-19G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002886457] |
Chr16:28486669 [GRCh38]
Chr16:28497990 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.791-7C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002846723] |
Chr16:28482679 [GRCh38]
Chr16:28494000 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.714C>T (p.Asp238=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003079857] |
Chr16:28484082 [GRCh38]
Chr16:28495403 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1058G>A (p.Cys353Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002590982] |
Chr16:28477876 [GRCh38]
Chr16:28489197 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.533+12G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002796948] |
Chr16:28486566 [GRCh38]
Chr16:28497887 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.996C>T (p.Ala332=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002619817] |
Chr16:28482165 [GRCh38]
Chr16:28493486 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.313A>T (p.Ile105Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003002026] |
Chr16:28487723 [GRCh38]
Chr16:28499044 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1197+11G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003053678] |
Chr16:28477726 [GRCh38]
Chr16:28489047 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.906+15C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003018168] |
Chr16:28482462 [GRCh38]
Chr16:28493783 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.522C>T (p.Ala174=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003078831] |
Chr16:28486589 [GRCh38]
Chr16:28497910 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.918C>G (p.Leu306=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002638418] |
Chr16:28482371 [GRCh38]
Chr16:28493692 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1056+16C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003052977] |
Chr16:28482089 [GRCh38]
Chr16:28493410 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.170G>A (p.Ser57Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002952658] |
Chr16:28489342 [GRCh38]
Chr16:28500663 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.861C>G (p.Pro287=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003038698] |
Chr16:28482522 [GRCh38]
Chr16:28493843 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.145A>C (p.Asn49His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002797263] |
Chr16:28489367 [GRCh38]
Chr16:28500688 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.248C>T (p.Pro83Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002761108] |
Chr16:28488637 [GRCh38]
Chr16:28499958 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.828_829del (p.Phe278fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003053724] |
Chr16:28482634..28482635 [GRCh38]
Chr16:28493955..28493956 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.775C>T (p.Pro259Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003019116] |
Chr16:28484021 [GRCh38]
Chr16:28495342 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1056+5C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003007807] |
Chr16:28482100 [GRCh38]
Chr16:28493421 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1043T>C (p.Leu348Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002875721] |
Chr16:28482118 [GRCh38]
Chr16:28493439 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.460+16T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003007739] |
Chr16:28487440 [GRCh38]
Chr16:28498761 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.916C>T (p.Leu306Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003056850] |
Chr16:28482373 [GRCh38]
Chr16:28493694 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.666G>A (p.Leu222=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003024574] |
Chr16:28486358 [GRCh38]
Chr16:28497679 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.791-11T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002805455] |
Chr16:28482683 [GRCh38]
Chr16:28494004 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.995C>T (p.Ala332Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002933072] |
Chr16:28482166 [GRCh38]
Chr16:28493487 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1266G>A (p.Leu422=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003081910] |
Chr16:28477567 [GRCh38]
Chr16:28488888 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.223-18A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003084384] |
Chr16:28488680 [GRCh38]
Chr16:28500001 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.813T>A (p.Leu271=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002643883] |
Chr16:28482650 [GRCh38]
Chr16:28493971 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.677+5G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002852263] |
Chr16:28486342 [GRCh38]
Chr16:28497663 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.37G>T (p.Asp13Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003058685] |
Chr16:28491723 [GRCh38]
Chr16:28503044 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.845_847dup (p.Leu282_Trp283insLeu) |
duplication |
Neuronal ceroid lipofuscinosis [RCV002875742] |
Chr16:28482535..28482536 [GRCh38]
Chr16:28493856..28493857 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.111C>G (p.Asn37Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002851207] |
Chr16:28491496 [GRCh38]
Chr16:28502817 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV003465993]|Neuronal ceroid lipofuscinosis [RCV002644413] |
Chr16:28489386 [GRCh38]
Chr16:28500707 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.307G>A (p.Ala103Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002829748] |
Chr16:28487729 [GRCh38]
Chr16:28499050 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.46+16C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003007859] |
Chr16:28491698 [GRCh38]
Chr16:28503019 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.294+8C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002871838] |
Chr16:28488583 [GRCh38]
Chr16:28499904 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-5C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002765627] |
Chr16:28477882 [GRCh38]
Chr16:28489203 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.963-5C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002828938] |
Chr16:28482203 [GRCh38]
Chr16:28493524 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1197+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV003465786]|Neuronal ceroid lipofuscinosis [RCV002596568] |
Chr16:28477736 [GRCh38]
Chr16:28489057 [GRCh37]
Chr16:16p12.1 |
pathogenic|likely pathogenic |
| NM_001042432.2(CLN3):c.490C>G (p.Leu164Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002740931] |
Chr16:28486621 [GRCh38]
Chr16:28497942 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1204G>A (p.Asp402Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002712090] |
Chr16:28477629 [GRCh38]
Chr16:28488950 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.662C>T (p.Ala221Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002625249] |
Chr16:28486362 [GRCh38]
Chr16:28497683 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.80T>C (p.Leu27Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002671258] |
Chr16:28491527 [GRCh38]
Chr16:28502848 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.530C>T (p.Pro177Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002676530] |
Chr16:28486581 [GRCh38]
Chr16:28497902 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.413del (p.Ser138fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV002833798] |
Chr16:28487503 [GRCh38]
Chr16:28498824 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.1162G>A (p.Ala388Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002631968] |
Chr16:28477772 [GRCh38]
Chr16:28489093 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1197+16G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003090110] |
Chr16:28477721 [GRCh38]
Chr16:28489042 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.62C>G (p.Pro21Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002580284] |
Chr16:28491545 [GRCh38]
Chr16:28502866 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.136C>G (p.Leu46Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003026801] |
Chr16:28489376 [GRCh38]
Chr16:28500697 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.96C>T (p.Gly32=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002835265] |
Chr16:28491511 [GRCh38]
Chr16:28502832 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.419T>C (p.Val140Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003011221] |
Chr16:28487497 [GRCh38]
Chr16:28498818 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.223-10C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003045088] |
Chr16:28488672 [GRCh38]
Chr16:28499993 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.320C>G (p.Pro107Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003045484] |
Chr16:28487716 [GRCh38]
Chr16:28499037 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1194G>A (p.Leu398=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002933917] |
Chr16:28477740 [GRCh38]
Chr16:28489061 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.375-6C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003028892] |
Chr16:28487547 [GRCh38]
Chr16:28498868 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.460+2T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003009773] |
Chr16:28487454 [GRCh38]
Chr16:28498775 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.678-8A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003046732] |
Chr16:28484126 [GRCh38]
Chr16:28495447 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.101A>T (p.His34Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003027713] |
Chr16:28491506 [GRCh38]
Chr16:28502827 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.46+9T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002647464] |
Chr16:28491705 [GRCh38]
Chr16:28503026 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1050_1056+19del |
deletion |
Neuronal ceroid lipofuscinosis [RCV002961992] |
Chr16:28482086..28482111 [GRCh38]
Chr16:28493407..28493432 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.126-14C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003029598] |
Chr16:28489400 [GRCh38]
Chr16:28500721 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.222+7G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002933921] |
Chr16:28489283 [GRCh38]
Chr16:28500604 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.772G>A (p.Ala258Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002577154] |
Chr16:28484024 [GRCh38]
Chr16:28495345 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.23G>A (p.Arg8Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003088803] |
Chr16:28491737 [GRCh38]
Chr16:28503058 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.594C>T (p.Ser198=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003065183] |
Chr16:28486430 [GRCh38]
Chr16:28497751 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.907-4G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002857063] |
Chr16:28482386 [GRCh38]
Chr16:28493707 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.276C>G (p.Cys92Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002577577] |
Chr16:28488609 [GRCh38]
Chr16:28499930 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.326T>C (p.Leu109Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003048516] |
Chr16:28487710 [GRCh38]
Chr16:28499031 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.702T>G (p.Pro234=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002898606] |
Chr16:28484094 [GRCh38]
Chr16:28495415 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.466G>C (p.Val156Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002605354] |
Chr16:28486645 [GRCh38]
Chr16:28497966 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.644C>T (p.Ser215Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003069852] |
Chr16:28486380 [GRCh38]
Chr16:28497701 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.56C>T (p.Thr19Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002653547] |
Chr16:28491551 [GRCh38]
Chr16:28502872 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1057-1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002635544] |
Chr16:28477878 [GRCh38]
Chr16:28489199 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.790+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003052339] |
Chr16:28484005 [GRCh38]
Chr16:28495326 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.375-11C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003050780] |
Chr16:28487552 [GRCh38]
Chr16:28498873 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.396G>A (p.Gly132=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003069011] |
Chr16:28487520 [GRCh38]
Chr16:28498841 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.963-10C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002587480] |
Chr16:28482208 [GRCh38]
Chr16:28493529 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.162G>A (p.Val54=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002606481] |
Chr16:28489350 [GRCh38]
Chr16:28500671 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.366G>A (p.Leu122=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002608711] |
Chr16:28487670 [GRCh38]
Chr16:28498991 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.358C>T (p.His120Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003066701] |
Chr16:28487678 [GRCh38]
Chr16:28498999 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.360C>T (p.His120=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002588400] |
Chr16:28487676 [GRCh38]
Chr16:28498997 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.143A>G (p.Asn48Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002658284] |
Chr16:28489369 [GRCh38]
Chr16:28500690 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.963-8A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002583991] |
Chr16:28482206 [GRCh38]
Chr16:28493527 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.29G>A (p.Arg10His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002584016] |
Chr16:28491731 [GRCh38]
Chr16:28503052 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1058G>T (p.Cys353Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002604289] |
Chr16:28477876 [GRCh38]
Chr16:28489197 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.354_355insG (p.Leu119fs) |
insertion |
Neuronal ceroid lipofuscinosis 3 [RCV003136476] |
Chr16:28487681..28487682 [GRCh38]
Chr16:28499002..28499003 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NC_000016.10:g.(28485964_28486930)del |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV003140601] |
|
pathogenic |
| NM_001042432.2(CLN3):c.-3G>A |
single nucleotide variant |
not provided [RCV003223822] |
Chr16:28491762 [GRCh38]
Chr16:28503083 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| GRCh38/hg38 16p12.1(chr16:28486250-28486550)x1 |
copy number loss |
Neuronal ceroid lipofuscinosis 3 [RCV003327674] |
Chr16:28486250..28486550 [GRCh38]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.917T>A (p.Leu306His) |
single nucleotide variant |
not specified [RCV003331926] |
Chr16:28482372 [GRCh38]
Chr16:28493693 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.125+2T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV003468464] |
Chr16:28491480 [GRCh38]
Chr16:28502801 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.250del (p.His84fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV003468467] |
Chr16:28488635 [GRCh38]
Chr16:28499956 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.1056+18C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003874591] |
Chr16:28482087 [GRCh38]
Chr16:28493408 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.555del (p.Ser186fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV003468452] |
Chr16:28486469 [GRCh38]
Chr16:28497790 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.379dup (p.Arg127fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV003468453] |
Chr16:28487536..28487537 [GRCh38]
Chr16:28498857..28498858 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.372C>G (p.Tyr124Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV003468462] |
Chr16:28487664 [GRCh38]
Chr16:28498985 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.467del (p.Val156fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV003468466] |
Chr16:28486644 [GRCh38]
Chr16:28497965 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.1197+18A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003873682] |
Chr16:28477719 [GRCh38]
Chr16:28489040 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1125C>T (p.Phe375=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003874839] |
Chr16:28477809 [GRCh38]
Chr16:28489130 [GRCh37]
Chr16:16p12.1 |
likely benign |
| GRCh37/hg19 16p11.2(chr16:28441539-29351827)x3 |
copy number gain |
not provided [RCV003485107] |
Chr16:28441539..29351827 [GRCh37]
Chr16:16p11.2 |
uncertain significance |
| NM_001042432.2(CLN3):c.47-2del |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV003468461] |
Chr16:28491562 [GRCh38]
Chr16:28502883 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.419del (p.Val140fs) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV003468465] |
Chr16:28487497 [GRCh38]
Chr16:28498818 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.849G>A (p.Trp283Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV003468457] |
Chr16:28482534 [GRCh38]
Chr16:28493855 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.910G>T (p.Glu304Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV003468459] |
Chr16:28482379 [GRCh38]
Chr16:28493700 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.838-3C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV003388914] |
Chr16:28482548 [GRCh38]
Chr16:28493869 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.937del (p.Ser312_Leu313insTer) |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV003468454] |
Chr16:28482352 [GRCh38]
Chr16:28493673 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.678-1_680del |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV003468455] |
Chr16:28484116..28484119 [GRCh38]
Chr16:28495437..28495440 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.363dup (p.Leu122fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV003468456] |
Chr16:28487672..28487673 [GRCh38]
Chr16:28498993..28498994 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.375-2del |
deletion |
Neuronal ceroid lipofuscinosis 3 [RCV003468458] |
Chr16:28487543 [GRCh38]
Chr16:28498864 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.1055dup (p.Cys353fs) |
duplication |
Neuronal ceroid lipofuscinosis 3 [RCV003468460] |
Chr16:28482105..28482106 [GRCh38]
Chr16:28493426..28493427 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.963-20C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003649137] |
Chr16:28482218 [GRCh38]
Chr16:28493539 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.907-18G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648105] |
Chr16:28482400 [GRCh38]
Chr16:28493721 [GRCh37]
Chr16:16p12.1 |
likely benign |
| GRCh38/hg38 16p12.1(chr16:28485965-28486930)x1 |
copy number loss |
Neuronal ceroid lipofuscinosis 3 [RCV003607197] |
Chr16:28485965..28486930 [GRCh38]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.1198-8C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648285] |
Chr16:28477643 [GRCh38]
Chr16:28488964 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.677+10C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648425] |
Chr16:28486337 [GRCh38]
Chr16:28497658 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.321C>A (p.Pro107=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648366] |
Chr16:28487715 [GRCh38]
Chr16:28499036 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1128G>T (p.Leu376=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648517] |
Chr16:28477806 [GRCh38]
Chr16:28489127 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1050G>C (p.Leu350=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648540] |
Chr16:28482111 [GRCh38]
Chr16:28493432 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.962+2dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV003648546] |
Chr16:28482324..28482325 [GRCh38]
Chr16:28493645..28493646 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.882C>G (p.Ala294=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648564] |
Chr16:28482501 [GRCh38]
Chr16:28493822 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.533+11G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648717] |
Chr16:28486567 [GRCh38]
Chr16:28497888 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.791-16C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648772] |
Chr16:28482688 [GRCh38]
Chr16:28494009 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.906+11G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647399] |
Chr16:28482466 [GRCh38]
Chr16:28493787 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.460+7G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647456] |
Chr16:28487449 [GRCh38]
Chr16:28498770 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.790+19C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003879919] |
Chr16:28483987 [GRCh38]
Chr16:28495308 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.564T>G (p.Thr188=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648990] |
Chr16:28486460 [GRCh38]
Chr16:28497781 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1236C>T (p.Thr412=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647654] |
Chr16:28477597 [GRCh38]
Chr16:28488918 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.375-5dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV003648565] |
Chr16:28487545..28487546 [GRCh38]
Chr16:28498866..28498867 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.560G>A (p.Gly187Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648590] |
Chr16:28486464 [GRCh38]
Chr16:28497785 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1293T>C (p.His431=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648598] |
Chr16:28477540 [GRCh38]
Chr16:28488861 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.60C>T (p.Val20=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003876063] |
Chr16:28491547 [GRCh38]
Chr16:28502868 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.963-6C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647313] |
Chr16:28482204 [GRCh38]
Chr16:28493525 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.450C>T (p.Thr150=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647380] |
Chr16:28487466 [GRCh38]
Chr16:28498787 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-12C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648617] |
Chr16:28477889 [GRCh38]
Chr16:28489210 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.295-17del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003648028] |
Chr16:28487758 [GRCh38]
Chr16:28499079 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.791-5T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648029] |
Chr16:28482677 [GRCh38]
Chr16:28493998 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1198-19C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648101] |
Chr16:28477654 [GRCh38]
Chr16:28488975 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.461-6C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648120] |
Chr16:28486656 [GRCh38]
Chr16:28497977 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-19C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648126] |
Chr16:28477896 [GRCh38]
Chr16:28489217 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.598_601dup (p.Gly201fs) |
duplication |
Neuronal ceroid lipofuscinosis [RCV003648967] |
Chr16:28486422..28486423 [GRCh38]
Chr16:28497743..28497744 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.838-17T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648826] |
Chr16:28482562 [GRCh38]
Chr16:28493883 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.963-16C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648831] |
Chr16:28482214 [GRCh38]
Chr16:28493535 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.838-20A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003649027] |
Chr16:28482565 [GRCh38]
Chr16:28493886 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.460+12G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648244] |
Chr16:28487444 [GRCh38]
Chr16:28498765 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.222+17C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003826859] |
Chr16:28489273 [GRCh38]
Chr16:28500594 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.162G>T (p.Val54=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648256] |
Chr16:28489350 [GRCh38]
Chr16:28500671 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.906+17A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648695] |
Chr16:28482460 [GRCh38]
Chr16:28493781 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.46+14C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648926] |
Chr16:28491700 [GRCh38]
Chr16:28503021 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.791-13T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648322] |
Chr16:28482685 [GRCh38]
Chr16:28494006 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.57C>A (p.Thr19=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648379] |
Chr16:28491550 [GRCh38]
Chr16:28502871 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.223-18A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003649003] |
Chr16:28488680 [GRCh38]
Chr16:28500001 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.46+12C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003649126] |
Chr16:28491702 [GRCh38]
Chr16:28503023 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-14C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003875938] |
Chr16:28477891 [GRCh38]
Chr16:28489212 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.126-11G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648519] |
Chr16:28489397 [GRCh38]
Chr16:28500718 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.528C>T (p.Tyr176=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648347] |
Chr16:28486583 [GRCh38]
Chr16:28497904 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.460+17G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648946] |
Chr16:28487439 [GRCh38]
Chr16:28498760 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.306G>A (p.Leu102=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648415] |
Chr16:28487730 [GRCh38]
Chr16:28499051 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.963-8A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648514] |
Chr16:28482206 [GRCh38]
Chr16:28493527 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.222+13C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003649147] |
Chr16:28489277 [GRCh38]
Chr16:28500598 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1056+16C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648666] |
Chr16:28482089 [GRCh38]
Chr16:28493410 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.678-14C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648680] |
Chr16:28484132 [GRCh38]
Chr16:28495453 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.460+12G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648758] |
Chr16:28487444 [GRCh38]
Chr16:28498765 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1056+12C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647659] |
Chr16:28482093 [GRCh38]
Chr16:28493414 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.791-9C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648771] |
Chr16:28482681 [GRCh38]
Chr16:28494002 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.36G>C (p.Ser12=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648140] |
Chr16:28491724 [GRCh38]
Chr16:28503045 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.223-16G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648377] |
Chr16:28488678 [GRCh38]
Chr16:28499999 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1071G>A (p.Val357=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648380] |
Chr16:28477863 [GRCh38]
Chr16:28489184 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.46+12C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648575] |
Chr16:28491702 [GRCh38]
Chr16:28503023 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.579G>A (p.Leu193=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648627] |
Chr16:28486445 [GRCh38]
Chr16:28497766 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.636C>T (p.Thr212=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647401] |
Chr16:28486388 [GRCh38]
Chr16:28497709 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.126-16G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003828656] |
Chr16:28489402 [GRCh38]
Chr16:28500723 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.222+14T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648764] |
Chr16:28489276 [GRCh38]
Chr16:28500597 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.533+19del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003647465] |
Chr16:28486559 [GRCh38]
Chr16:28497880 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.126-11G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648053] |
Chr16:28489397 [GRCh38]
Chr16:28500718 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648137] |
Chr16:28491757 [GRCh38]
Chr16:28503078 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.46+15C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648127] |
Chr16:28491699 [GRCh38]
Chr16:28503020 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.47-2A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648447] |
Chr16:28491562 [GRCh38]
Chr16:28502883 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.683del (p.Phe228fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003648223] |
Chr16:28484113 [GRCh38]
Chr16:28495434 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.677+18G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648260] |
Chr16:28486329 [GRCh38]
Chr16:28497650 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.962+18A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648290] |
Chr16:28482309 [GRCh38]
Chr16:28493630 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.534-5C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648294] |
Chr16:28486495 [GRCh38]
Chr16:28497816 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.837+1G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648306] |
Chr16:28482625 [GRCh38]
Chr16:28493946 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.461-2A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648501] |
Chr16:28486652 [GRCh38]
Chr16:28497973 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.461-3dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV003648520] |
Chr16:28486652..28486653 [GRCh38]
Chr16:28497973..28497974 [GRCh37]
Chr16:16p12.1 |
benign |
| NM_001042432.2(CLN3):c.791-20C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003828515] |
Chr16:28482692 [GRCh38]
Chr16:28494013 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.222+18A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647276] |
Chr16:28489272 [GRCh38]
Chr16:28500593 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.774C>T (p.Ala258=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647706] |
Chr16:28484022 [GRCh38]
Chr16:28495343 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1107A>G (p.Pro369=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647594] |
Chr16:28477827 [GRCh38]
Chr16:28489148 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.295-19C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648350] |
Chr16:28487760 [GRCh38]
Chr16:28499081 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1110C>T (p.Ser370=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648537] |
Chr16:28477824 [GRCh38]
Chr16:28489145 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.677+11C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003648543] |
Chr16:28486336 [GRCh38]
Chr16:28497657 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.906+20A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647371] |
Chr16:28482457 [GRCh38]
Chr16:28493778 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.222+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531822] |
Chr16:28489289 [GRCh38]
Chr16:28500610 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.747C>T (p.Ala249=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003532429] |
Chr16:28484049 [GRCh38]
Chr16:28495370 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1056+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534072] |
Chr16:28482104 [GRCh38]
Chr16:28493425 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.294+17C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534153] |
Chr16:28488574 [GRCh38]
Chr16:28499895 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.729del (p.Glu244fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003532497] |
Chr16:28484067 [GRCh38]
Chr16:28495388 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.510C>T (p.Leu170=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003849657] |
Chr16:28486601 [GRCh38]
Chr16:28497922 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.126-9T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531454] |
Chr16:28489395 [GRCh38]
Chr16:28500716 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.126-18C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531461] |
Chr16:28489404 [GRCh38]
Chr16:28500725 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.222+11C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531750] |
Chr16:28489279 [GRCh38]
Chr16:28500600 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.790+14A>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531770] |
Chr16:28483992 [GRCh38]
Chr16:28495313 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.47-4C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531804] |
Chr16:28491564 [GRCh38]
Chr16:28502885 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.75C>A (p.Leu25=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531823] |
Chr16:28491532 [GRCh38]
Chr16:28502853 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.295-7G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531827] |
Chr16:28487748 [GRCh38]
Chr16:28499069 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.483A>G (p.Ser161=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003533946] |
Chr16:28486628 [GRCh38]
Chr16:28497949 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.295-7G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531892] |
Chr16:28487748 [GRCh38]
Chr16:28499069 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.937C>T (p.Leu313=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003533953] |
Chr16:28482352 [GRCh38]
Chr16:28493673 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1231G>T (p.Ala411Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531877] |
Chr16:28477602 [GRCh38]
Chr16:28488923 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.492T>C (p.Leu164=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531500] |
Chr16:28486619 [GRCh38]
Chr16:28497940 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1143G>A (p.Glu381=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003532507] |
Chr16:28477791 [GRCh38]
Chr16:28489112 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.855T>C (p.Ile285=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531752] |
Chr16:28482528 [GRCh38]
Chr16:28493849 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.657C>A (p.Ile219=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531760] |
Chr16:28486367 [GRCh38]
Chr16:28497688 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.63G>A (p.Pro21=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531797] |
Chr16:28491544 [GRCh38]
Chr16:28502865 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.871dup (p.Val291fs) |
duplication |
Neuronal ceroid lipofuscinosis [RCV003531830] |
Chr16:28482511..28482512 [GRCh38]
Chr16:28493832..28493833 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.540G>T (p.Val180=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003533879] |
Chr16:28486484 [GRCh38]
Chr16:28497805 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1152G>A (p.Leu384=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003533898] |
Chr16:28477782 [GRCh38]
Chr16:28489103 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.420C>A (p.Val140=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531883] |
Chr16:28487496 [GRCh38]
Chr16:28498817 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.125+19C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531408] |
Chr16:28491463 [GRCh38]
Chr16:28502784 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.218G>A (p.Ser73Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531420] |
Chr16:28489294 [GRCh38]
Chr16:28500615 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.684C>T (p.Phe228=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534074] |
Chr16:28484112 [GRCh38]
Chr16:28495433 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1181A>G (p.His394Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534076] |
Chr16:28477753 [GRCh38]
Chr16:28489074 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.295-18T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003852622] |
Chr16:28487759 [GRCh38]
Chr16:28499080 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1246_1247dup (p.Asp416fs) |
duplication |
Neuronal ceroid lipofuscinosis [RCV003531459] |
Chr16:28477585..28477586 [GRCh38]
Chr16:28488906..28488907 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.1198-4C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531566] |
Chr16:28477639 [GRCh38]
Chr16:28488960 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1057-14C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003814132] |
Chr16:28477891 [GRCh38]
Chr16:28489212 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.47-5C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003533866] |
Chr16:28491565 [GRCh38]
Chr16:28502886 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.907-17T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003533917] |
Chr16:28482399 [GRCh38]
Chr16:28493720 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.677+7T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003532382] |
Chr16:28486340 [GRCh38]
Chr16:28497661 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.99G>C (p.Ala33=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003532499] |
Chr16:28491508 [GRCh38]
Chr16:28502829 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.461-11C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003532489] |
Chr16:28486661 [GRCh38]
Chr16:28497982 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.222+20C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534118] |
Chr16:28489270 [GRCh38]
Chr16:28500591 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.534-17T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003854601] |
Chr16:28486507 [GRCh38]
Chr16:28497828 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.677+10C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003838958] |
Chr16:28486337 [GRCh38]
Chr16:28497658 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.599_615del (p.Leu200fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003534052] |
Chr16:28486409..28486425 [GRCh38]
Chr16:28497730..28497746 [GRCh37]
Chr16:16p12.1 |
pathogenic |
| NM_001042432.2(CLN3):c.96C>A (p.Gly32=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003532500] |
Chr16:28491511 [GRCh38]
Chr16:28502832 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.663C>T (p.Ala221=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003532546] |
Chr16:28486361 [GRCh38]
Chr16:28497682 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.223-15C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531586] |
Chr16:28488677 [GRCh38]
Chr16:28499998 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.790+1G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534000] |
Chr16:28484005 [GRCh38]
Chr16:28495326 [GRCh37]
Chr16:16p12.1 |
likely pathogenic |
| NM_001042432.2(CLN3):c.564T>C (p.Thr188=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534015] |
Chr16:28486460 [GRCh38]
Chr16:28497781 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.963-15C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534131] |
Chr16:28482213 [GRCh38]
Chr16:28493534 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.696A>G (p.Thr232=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531520] |
Chr16:28484100 [GRCh38]
Chr16:28495421 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1198-19C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003532496] |
Chr16:28477654 [GRCh38]
Chr16:28488975 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1138T>C (p.Tyr380His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534120] |
Chr16:28477796 [GRCh38]
Chr16:28489117 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.46+16C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531539] |
Chr16:28491698 [GRCh38]
Chr16:28503019 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.294+9T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531540] |
Chr16:28488582 [GRCh38]
Chr16:28499903 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.533+15C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531582] |
Chr16:28486563 [GRCh38]
Chr16:28497884 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1117C>T (p.Leu373Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531584] |
Chr16:28477817 [GRCh38]
Chr16:28489138 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
| NM_001042432.2(CLN3):c.1057-11C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534240] |
Chr16:28477888 [GRCh38]
Chr16:28489209 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.447G>A (p.Gly149=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531676] |
Chr16:28487469 [GRCh38]
Chr16:28498790 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.642G>A (p.Leu214=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003531738] |
Chr16:28486382 [GRCh38]
Chr16:28497703 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.837+10A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003534003] |
Chr16:28482616 [GRCh38]
Chr16:28493937 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.460+12G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003821127] |
Chr16:28487444 [GRCh38]
Chr16:28498765 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.533+12G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003859501] |
Chr16:28486566 [GRCh38]
Chr16:28497887 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.906+18G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003841498] |
Chr16:28482459 [GRCh38]
Chr16:28493780 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.222+19C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003844815] |
Chr16:28489271 [GRCh38]
Chr16:28500592 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1197+15G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003871091] |
Chr16:28477722 [GRCh38]
Chr16:28489043 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.791-15T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003868166] |
Chr16:28482687 [GRCh38]
Chr16:28494008 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.1056+20C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003871981] |
Chr16:28482085 [GRCh38]
Chr16:28493406 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.42C>A (p.Ser14=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003866965] |
Chr16:28491718 [GRCh38]
Chr16:28503039 [GRCh37]
Chr16:16p12.1 |
likely benign |
| GRCh37/hg19 16p11.2(chr16:28485883-29347116)x1 |
copy number loss |
not specified [RCV003987198] |
Chr16:28485883..29347116 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28486928-29438326)x1 |
copy number loss |
not specified [RCV003987144] |
Chr16:28486928..29438326 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| GRCh37/hg19 16p11.2(chr16:28371467-29379768)x1 |
copy number loss |
not specified [RCV003987151] |
Chr16:28371467..29379768 [GRCh37]
Chr16:16p11.2 |
pathogenic |
| NM_001042432.2(CLN3):c.125+9C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003862027] |
Chr16:28491473 [GRCh38]
Chr16:28502794 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.228C>T (p.Asp76=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003856851] |
Chr16:28488657 [GRCh38]
Chr16:28499978 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.460+20T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003824131] |
Chr16:28487436 [GRCh38]
Chr16:28498757 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.837+17G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003841278] |
Chr16:28482609 [GRCh38]
Chr16:28493930 [GRCh37]
Chr16:16p12.1 |
likely benign |
| NM_001042432.2(CLN3):c.222+3A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 3 [RCV003340752] |
Chr16:28489287 [GRCh38]
Chr16:28500608 [GRCh37]
Chr16:16p12.1 |
uncertain significance |
