Unique variants in the PPT1 gene

An NCL gene variant database
Information The variants shown are described using the NM_000310.3 transcript reference sequence.

105 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 1 - c.(798+1_799-1)_(*1_*1351) r.(?) p.(?) - likely pathogenic g.40544236G>A g.40078564G>A PPT1(NM_000310.3):c.722C>T(p.S241L)/CDS9 deletion - PPT1_000016 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 210 - - - LOVD
+/., -/. 2 1 c.-109C>A r.(-109c>a), r.(?) p.(=), p.(?) - benign, pathogenic g.40563019G>T g.40097347G>T g.1--109C>A - PPT1_000005 was iniitally publoished as g.1-123C>A; g.1-109C>A PubMed: Mole 2001, Batten disease database - rs41301070 Germline - - - - - Johan den Dunnen, Andreas Laner
+?/. 1 - c.2T>C r.(?) p.(Met1?) - likely pathogenic g.40562909A>G g.40097237A>G - - PPT1_000089 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796052927 Germline - 3/2785 individuals - - - Mohammed Faruq
+/., ?/. 3 1 c.3G>A r.(3g>a), r.(?) p.(Met1?), p.0? - pathogenic, VUS g.40562908C>T g.40097236C>T c.3G>A, Inefficient initiation (p.Met1?), Inefficient initiation (p.Met1?), 1 more item - PPT1_000069 VKGL data sharing initiative Nederland PubMed: Das 1998, Batten disease database - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden
+?/. 1 1 c.18C>A r.(?) p.(Cys6*) ACMG likely pathogenic g.40562893G>T - - - PPT1_000100 - - - - Germline - - - - - Corina-Marcela Rus
+/., +?/. 13 1 c.29T>A r.(29u>a), r.(?) p.(Leu10*), p.(Leu10Ter) - likely pathogenic, pathogenic g.40562882A>T g.40097210A>T c.29T>A, p.(Leu10*), p.Leu10X, PPT1(NM_000310.3):c.29T>A (p.L10*) - PPT1_000068 Compound heterozygous, VKGL data sharing initiative Nederland PubMed: Das 1998, Batten disease database, PubMed: Jilani 2019, 3 more items - rs137852699 CLASSIFICATION record, Germline ? - - - - Johan den Dunnen, VKGL-NL_Rotterdam
+?/. 1 1 c.74_78dup r.(?) p.(Leu27Serfs*12) ACMG likely pathogenic g.40562833_40562837dup - - - PPT1_000097 - - - - Germline - - - - - Corina-Marcela Rus
+/. 2 1 c.114del r.(?) p.(Trp38CysfsTer12) - pathogenic g.40562798del g.40097126del p.Trp38CysfsX12, p.Trp38X - PPT1_000066 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 3 1 c.114G>T r.(114g>u) p.(Trp38*) - pathogenic g.40562797C>A g.40097125C>A p.Trp38Cys - PPT1_000067 - PubMed: Kousi 2009, Batten disease database, PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.117T>A r.(117u>a) p.(His39Gln) - pathogenic g.40562794A>T g.40097122A>T p.His39Gln - PPT1_000065 - PubMed: Das 1998, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 1i c.124+1G>A r.spl p.? - pathogenic g.40562786C>T g.40097114C>T IVS1+1G>A - PPT1_000064 - PubMed: Bi 2006, Batten disease database - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.124+139G>A r.(=) p.(=) - likely benign g.40562648C>T g.40096976C>T PPT1(NM_000310.3):c.124+139G>A - PPT1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 1i_2i c.124+1215_235-102del r.125_433del p.(Asp43_Gly145del) - pathogenic g.40557947_40561573del g.40092275_40095901del c.124+1214del3.6kb - PPT1_000054 1 more item PubMed: Simonati 2009, Batten disease database - - Germline - - - - - Johan den Dunnen
-/. 1 - c.125-1652C>T r.(=) p.(=) - benign g.40559831G>A g.40094159G>A PPT1(NM_000310.3):c.125-1652C>T - PPT1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.125-1564A>G r.(=) p.(=) - likely benign g.40559743T>C g.40094071T>C PPT1(NM_000310.3):c.125-1564A>G - PPT1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.125-188_125-185del r.(=) p.(=) - likely benign g.40558366_40558369del g.40092694_40092697del PPT1(NM_000310.3):c.125-188_125-185delAAGT - PPT1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 1i c.125-15T>G r.125_433del p.(Asp43_Gly145del) - pathogenic g.40558194A>C g.40092522A>C c.125-15T>G - PPT1_000062 - PubMed: Bonsignore 2006, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 1i c.125-2A>G r.spl p.? - pathogenic g.40558181T>C g.40092509T>C c.125-2A>G - PPT1_000061 IVS1-2A>G PubMed: Salonen 2000, Batten disease database - - Germline - - - - - Johan den Dunnen
+/., ?/. 2 2 c.125G>A r.(125g>a), r.(?) p.(Gly42Glu) - pathogenic, VUS g.40558179C>T g.40092507C>T p.Gly42Glu - PPT1_000002 - PubMed: Das 1998, Batten disease database - - Germline - - - - - Gerard C.P. Schaafsma, Johan den Dunnen
+/. 2 2 c.134G>A r.(134g>a) p.(Cys45Tyr) - pathogenic g.40558170C>T g.40092498C>T p.Cys45Tyr - PPT1_000059 - PubMed: Kousi 2012, Batten disease database, PubMed: Ramadan 2007, Batten disease database - rs137852702 Germline - - - - - Johan den Dunnen
+/. 2 2 c.135_137dup r.(?) p.(Cys46dup) - pathogenic g.40558169_40558171dup g.40092497_40092499dup p.Cys46dup - PPT1_000060 - PubMed: Kousi 2012, Batten disease database, PubMed: Salonen 2000, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.163A>T r.(364a>u) p.(Lys55*) - pathogenic g.40558141T>A g.40092469T>A p.Lys55X - PPT1_000058 - PubMed: Munroe 1998, Batten disease database, PubMed: Vesa 1995, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 8 2 c.169dup r.(?) p.(Met57Asnfs*45) - pathogenic g.40558141dup g.40092469dup p.Met57AsnfsX45 - PPT1_000057 - PubMed: Kousi 2012, Batten disease database, PubMed: Salonen 2000, Batten disease database, 2 more items - - Germline - - - - - Johan den Dunnen
+/. 1 1i c.174-175delG r.(175delg) p.(Glu59Argfs*12) - pathogenic g.40558305delC g.40092633delC p.Glu59ArgfsX12 - PPT1_000063 1 more item PubMed: Salonen 2000, Batten disease database - - Germline - - - - - Johan den Dunnen
+/., +?/. 30 2 c.223A>C r.(223a>c), r.(?) p.(Thr75Pro) - likely pathogenic, pathogenic g.40558081T>G g.40092409T>G c.223A>C, p.(Thr75Pro), p.Thr75Pro, PPT1(NM_000310.3):c.223A>C (p.T75P) - PPT1_000055 Compound heterozygous, homozygous, VKGL data sharing initiative Nederland PubMed: Das 1998, Batten disease database, PubMed: Jilani 2019, PubMed: Stone 2017, 3 more items - rs137852696 CLASSIFICATION record, Germline ? - - - - Johan den Dunnen, VKGL-NL_Groningen
+/. 2 2i c.235-3T>C r.spl? p.(?) - pathogenic g.40557847A>G g.40092175A>G c.235-3T>C - PPT1_000053 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/., ?/. 3 3 c.236A>G r.(236a>g), r.(?) p.(Asp79Gly) - pathogenic, VUS g.40557843T>C g.40092171T>C p.Asp79Gly - PPT1_000003 - PubMed: Das 1998, Batten disease database, PubMed: Mitchison 1998, Batten disease database - rs137852697 Germline - - - - - Gerard C.P. Schaafsma, Johan den Dunnen
-?/. 2 - c.255C>T r.(?) p.(Phe85=) - likely benign g.40557824G>A g.40092152G>A PPT1(NM_000310.3):c.255C>T (p.F85=) - PPT1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 3 3 c.255_257del r.(?) p.(Phe85del) - pathogenic g.40557828_40557830del g.40092156_40092158del c.249_251delCTT; referred as Phe84del or p.Ser83_Phe84delinsSer, p.Ser83_Phe84delinsSer - PPT1_000052 - PubMed: Mole 2001, Batten disease database, PubMed: Salonen 2000, Batten disease database, 1 more item - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.271_287delinsTT r.(?) p.(Gln91_Cys96delinsPhe) - pathogenic g.40557792_40557808delinsAA - p.Gln91_Cys96delinsPhe - PPT1_000056 - PubMed: Mole 2001, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.272A>C r.(272a>c) p.(Gln91Pro) - pathogenic g.40557807T>G g.40092135T>G p.Gln91Pro - PPT1_000051 - PubMed: Bi 2006, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 3 3 c.287G>A r.(287g>a) p.(Cys96Tyr) - pathogenic g.40557792C>T g.40092120C>T p.Cys96Tyr - PPT1_000050 - PubMed: Kahn 2013, Batten disease database, PubMed: Kousi 2012, Batten disease database, 1 more item - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.289C>T r.(?) p.(Gln97*) ACMG pathogenic g.40557790G>A - - - PPT1_000099 - - - - Germline - - - - - Corina-Marcela Rus
+?/. 1 - c.289_290del r.(?) p.(Gln97Glyfs*4) - likely pathogenic g.40557789_40557790del g.40092117_40092118del c.289_290del, p.(Gln97Glyfs*4) - PPT1_000105 Compound heterozygous PubMed: Jilani 2019 - - Germline ? - - - - LOVD
-?/. 1 - c.299C>G r.(?) p.(Ala100Gly) - likely benign g.40557780G>C g.40092108G>C PPT1(NM_000310.3):c.299C>G (p.(Ala100Gly)) - PPT1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 3 c.310A>T r.(310a>u) p.(Lys104*) - pathogenic g.40557769T>A g.40092097T>A p.Lys104X - PPT1_000049 - PubMed: Mole 2001, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.312del r.(?) p.(Lys104AsnfsTer18) - pathogenic g.40557769del g.40092097del c.312delA - PPT1_000048 - PubMed: Trzupek 2004, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 3 3 c.322G>C r.(322g>c) p.(Gly108Arg) - pathogenic g.40557757C>G g.40092085C>G p.Gly108Arg - PPT1_000047 - PubMed: Kousi 2012, Batten disease database, PubMed: van Diggelen 2001, Batten disease database - rs137852701 Germline - - - - - Johan den Dunnen
+/. 3 3 c.325T>G r.(325u>g) p.(Tyr109Asp) - pathogenic g.40557754A>C g.40092082A>C p.Tyr109Asp - PPT1_000046 - PubMed: Das 1998, Batten disease database, PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 - c.346del r.(?) p.(Gln116Argfs*6) - pathogenic g.40557735del g.40092063del 346delC - PPT1_000082 - - - - Unknown - - - - - IMGAG
+/. 2 3 c.353G>A r.(353g>a), r.(?) p.(Gly118Asp) ACMG pathogenic, pathogenic (recessive) g.40557726C>T g.40092054C>T p.Gly118Asp - PPT1_000045 - PubMed: Helbig 2016, PubMed: Waliany 2000, Batten disease database - rs143657539 Germline - - - - - Johan den Dunnen
-?/. 1 - c.362+3A>G r.spl? p.? - likely benign g.40557714T>C - PPT1(NM_000310.3):c.362+3A>G - PPT1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.362+18A>G r.(=) p.(=) - likely benign g.40557699T>C g.40092027T>C PPT1(NM_000310.3):c.362+18A>G - PPT1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 3i c.362+61C>T r.spl? p.(?) - pathogenic g.40557656G>A g.40091984G>A c.362+61C>T - PPT1_000044 - PubMed: Ramadan et al., 2007, Batten disease database - rs6672053 Germline - - - - - Johan den Dunnen
+/., -/., -?/. 6 3i c.363-4G>A r.spl? p.(?), p.? - benign, likely benign, pathogenic g.40557075C>T g.40091403C>T c.363-4G>A, PPT1(NM_000310.3):c.363-4G>A - PPT1_000043 VKGL data sharing initiative Nederland PubMed: Kousi 2012, Batten disease database - rs117284255 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc
+/. 1 3i c.363-3T>G r.spl? p.? - pathogenic g.40557074A>C g.40091402A>C c.363-3T>G - PPT1_000042 - PubMed: Kohan 2009, Batten disease database - - Germline - - - - - Johan den Dunnen
+?/. 1 3i c.363-2A>G r.spl? p.? ACMG likely pathogenic g.40557073T>C - - - PPT1_000098 - - - - Germline - - - - - Corina-Marcela Rus
+/., +?/., ?/. 59 4 c.364A>T r.(364a>u), r.(?) p.(Arg122Trp) ACMG likely pathogenic, pathogenic, pathogenic (recessive), VUS g.40557070T>A g.40091398T>A p.Arg122Trp, PPT1(NM_000310.3):c.364A>T (p.R122W) - PPT1_000001 Das Hum Mol Genet 110:1431-1439 2001, van Diggelen pers comm 2003 , 2 more items PubMed: Das 1998, Batten disease database, PubMed: Helbig 2016, PubMed: Stone 2017, 3 more items - rs137852695 CLASSIFICATION record, Germline - - - - - Gerard C.P. Schaafsma, Johan den Dunnen, VKGL-NL_Groningen
+/. 1 4 c.398del r.(?) p.(Met133Argfs*4) - pathogenic g.40557036del g.40091364del p.Met133ArgfsX4 - PPT1_000041 - PubMed: Das 1998, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 4 4 c.401C>T r.(401u>c) p.(Ile134Thr) - pathogenic g.40557033G>A g.40091361G>A p.Ile134Thr - PPT1_000040 1 more item PubMed: Kousi 2012, Batten disease database - rs1800205 Germline - - - - - Johan den Dunnen
-/. 4 4 c.401T>C r.(?) p.(Ile134Thr) - benign g.40557033A>G g.40091361A>G PPT1(NM_000310.3):c.401T>C (p.I134T) - PPT1_000006 VKGL data sharing initiative Nederland - - rs1800205 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
+/. 1 4 c.413C>T r.(413c>u) p.(Ser138Leu) - pathogenic g.40557021G>A g.40091349G>A p.Ser138Leu - PPT1_000039 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+?/. 2 - c.433+1G>A r.spl p.(?) ACMG likely pathogenic g.40557000C>T g.40091328C>T c.433+1G>A, Not known - PPT1_000104 Homozygous PubMed: Dozieres-Puyravel 2020 - - Germline ? - - - - LOVD
+/., +?/., ?/. 82 5 c.451C>T r.(451c>u), r.(?) p.(Arg151*), p.(Arg151Ter) - likely pathogenic, pathogenic, VUS g.40555167G>A g.40089495G>A c.451C>T, p.(Arg151*), p.Arg151X, PPT1(NM_000310.3):c.451C>T (p.R151*, p.(Arg151*)) - PPT1_000004 Compound heterozygous, niks gevonden, VKGL data sharing initiative Nederland PubMed: Burkina 2004, Batten disease database, PubMed: Das 1998, Batten disease database, 11 more items - rs137852700 CLASSIFICATION record, Germline, Unknown ? - - - - Gerard C.P. Schaafsma, Johan den Dunnen, VKGL-NL_Leiden, IMGAG, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 2 5 c.455G>A r.(455g>a) p.(Cys152*) - pathogenic g.40555163C>T g.40089491C>T p.Cys152Tyr - PPT1_000038 - PubMed: Kälviäinen 2007, Batten disease database, PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.456C>A r.(456c>a) p.(Cys152*) - pathogenic g.40555162G>T g.40089490G>T p.Cys152X - PPT1_000037 - PubMed: Salonen 2000, Batten disease database - - Germline - - - - - Johan den Dunnen
?/. 1 - c.474C>A r.(?) p.(His158Gln) - VUS g.40555144G>T g.40089472G>T PPT1(NM_000310.3):c.474C>A (p.H158Q) - PPT1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 5 5 c.490C>T r.(490c>u), r.(?) p.(Arg164*) - likely pathogenic, pathogenic g.40555128G>A g.40089456G>A c.490C>T, p.(Arg164*), p.Arg164X - PPT1_000036 Compound heterozygous PubMed: Das 1998, Batten disease database, PubMed: Jilani 2019, 2 more items - - Germline ? - - - - Johan den Dunnen
+/. 6 5 c.529C>G r.(529c>g) p.(Gln177Glu) - pathogenic g.40555089G>C g.40089417G>C p.Arg151X, p.Gln177Glu - PPT1_000035 - PubMed: Das 1998, Batten disease database, PubMed: Kousi 2012, Batten disease database, 2 more items - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.533A>T r.(?) p.(Glu178Val) - pathogenic g.40555085T>A g.40089413T>A p.Glu178Val - PPT1_000034 - PubMed: Pérez-Poyato 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
?/. 1 - c.535C>T r.(?) p.(Arg179Cys) - VUS g.40555083G>A g.40089411G>A PPT1(NM_000310.3):c.535C>T (p.R179C) - PPT1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5i c.536+1G>AIVS5+1G>A r.spl? p.(?) - pathogenic g.40555081C>T - c.536+1G>A - PPT1_000033 1 more item PubMed: Mueller and Coovadia 2010, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 5i c.536+2T>C r.spl? p.(?) - pathogenic g.40555080A>G g.40089408A>G c.536+2T>C - PPT1_000032 Aberrant splicing, Fs after Arg179 PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.537-8del r.(=) p.(=) - benign, likely benign g.40546175del g.40080503del PPT1(NM_000310.3):c.537-8delT - PPT1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.537-8dup r.(=) p.(=) - likely benign g.40546175dup g.40080503dup PPT1(NM_000310.3):c.537-8dupT - PPT1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 6 c.538dup r.(?) p.(Leu180Profs*9) - pathogenic g.40546159dup g.40080487dup p.Leu180ProfsX9 - PPT1_000031 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 17 6 c.541G>A r.(541g>a) p.(Val181Met) - pathogenic g.40546155C>T g.40080483C>T p.Val181Met - PPT1_000029 - PubMed: Das 1998, Batten disease database, PubMed: Karmen 2004, Batten disease database, 4 more items - rs148412181 Germline - - - - - Johan den Dunnen
+/., +?/. 11 6 c.541G>T r.(541g>u), r.(?) p.(Val181Leu) - likely pathogenic, pathogenic g.40546155C>A g.40080483C>A c.541G>T, p.(Val181Leu), p.Val181Leu, p.Val181Lys - PPT1_000030 Compound heterozygous, M Milà and J Mallolas, pers comm PubMed: Jilani 2019, PubMed: Pérez-Poyato 2011, Batten disease database, 1 more item - - Germline ? - - - - Johan den Dunnen
+/. 1 6 c.544C>T r.(544c>u) p.(Gln182*) - pathogenic g.40546152G>A g.40080480G>A p.Gln182X - PPT1_000028 - PubMed: Mole 2001, Batten disease database - - Germline - - - - - Johan den Dunnen
+/., +?/. 5 6 c.550G>A r.(550g>a), r.(?) p.(Glu184Lys) - likely pathogenic, pathogenic g.40546146C>T g.40080474C>T p.Glu184Lys - PPT1_000027 4 heterozygous, no homozygous; Clinindb (India) PubMed: Bi 2006, Batten disease database, PubMed: Das 1998, Batten disease database, 3 more items - rs386833655 Germline - 4/2795 individuals - - - Johan den Dunnen, Mohammed Faruq
+?/. 1 6 c.556T>C r.(?) p.(Trp186Arg) ACMG likely pathogenic g.40546140A>G - - - PPT1_000096 - - - - Germline - - - - - Corina-Marcela Rus
+/. 1 6 c.558G>A r.(558g>a) p.(Trp186*) - pathogenic g.40546138C>T g.40080466C>T p.Trp186X - PPT1_000026 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 6 c.560A>G r.(560a>g) p.(His187Arg) - pathogenic g.40546136T>C g.40080464T>C p.His187Arg - PPT1_000025 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 6 c.566C>G r.(566c>g) p.(Pro189Arg) - pathogenic g.40546130G>C g.40080458G>C p.Pro189Arg - PPT1_000024 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
?/. 1 6 c.603_605dup r.(?) p.(Phe201dup) - VUS g.40546095_40546097dup g.40080423_40080425dup - - PPT1_000103 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/., -/., -?/. 3 6i c.627+4A>G r.spl? p.(?), p.? - benign, likely benign, pathogenic g.40546065T>C g.40080393T>C c.627+4A>G, PPT1(NM_000310.3):c.627+4A>G - PPT1_000023 VKGL data sharing initiative Nederland PubMed: Kousi 2012, Batten disease database - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/., +?/. 3 6i c.628-1G>T r.spl p.? - likely pathogenic, pathogenic g.40544331C>A g.40078659C>A c.628-1G>T, IVS6-1G>T - PPT1_000022 IVS6-1G>T PubMed: Mole 2001, Batten disease database, PubMed: Salonen 2000, Batten disease database, 1 more item - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.644del r.(?) p.(Tyr215Serfs*5) - pathogenic g.40544314del g.40078642del p.Tyr215SerfsX5 - PPT1_000021 - PubMed: Das 1998, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.656T>A r.(656u>a) p.(Leu219Gln) - pathogenic g.40544302A>T g.40078630A>T p.Leu219Gln - PPT1_000020 - PubMed: Mitchison 1998, Batten disease database - rs137852698 Germline - - - - - Johan den Dunnen
+/. 4 7 c.665T>C r.(665u>c) p.(Leu222Pro) - pathogenic g.40544293A>G g.40078621A>G p.Leu222Pro - PPT1_000019 - PubMed: Mazzei 2002, Batten disease database, PubMed: Simonati 2009, Batten disease database - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 7 c.674T>C r.(674u>c), r.(?) p.(Phe225Ser) - likely pathogenic, pathogenic g.40544284A>G g.40078612A>G c.674T>C, p.(Phe225Ser), p.Phe225Ser - PPT1_000018 homozygous PubMed: Jilani 2019, PubMed: Mole 2001, Batten disease database - - Germline ? - - - - Johan den Dunnen
?/. 1 - c.676G>A r.(?) p.(Val226Met) - VUS g.40544282C>T g.40078610C>T PPT1(NM_000310.3):c.676G>A (p.V226M) - PPT1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 7 c.683T>G r.(683u>g) p.(Val228Gly) - pathogenic g.40544275A>C g.40078603A>C p.Val228Gly - PPT1_000017 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
?/. 1 7 c.713C>T r.(?) p.(Pro238Leu) - VUS g.40544245G>A g.40078573G>A - - PPT1_000102 - PubMed: Ganapathy 2019 ClinVar-RCV000225555.1 rs878853322 Germline - - - - - Johan den Dunnen
+/., +?/. 2 7 c.722C>T r.(?) p.(Ser241Leu) - likely pathogenic, pathogenic g.40544236G>A, g? g.40078564G>A, g? p.Ser241Leu, PPT1(NM_000310.3):c.722C>T(p.S241L)/CDS9 deletion - PPT1_000016 - PubMed: Pérez-Poyato 2012, Batten disease database, PubMed: Sun 2018 - - Germline, Germline/De novo (untested) ? 210 - - - Johan den Dunnen
-/. 1 - c.727-175C>T r.(=) p.(=) - benign g.40542760G>A g.40077088G>A PPT1(NM_000310.3):c.727-175C>T - PPT1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.727-70A>G r.(=) p.(=) - benign g.40542655T>C g.40076983T>C PPT1(NM_000310.3):c.727-70A>G - PPT1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 7i c.727-2A>T r.spl p.? - pathogenic g.40542587T>A g.40076915T>A IVS7-2A>T - PPT1_000015 - PubMed: Das 1998, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 - c.733G>A r.(?) p.(Gly245Arg) - likely pathogenic (recessive) g.40542579C>T g.40076907C>T - - PPT1_000101 PPT1 enzyme activity blood 0.05 PubMed: Perreault 2015, Journal: Perrault 2015 - - Germline - - - - - Johan den Dunnen
+/., +?/. 3 8 c.739T>C r.(739u>c), r.(?) p.(Tyr247His) - likely pathogenic, pathogenic g.40542573A>G g.40076901A>G p.Tyr247His, PPT1(NM_000310.3):c.739T>C (p.Y247H) - PPT1_000014 VKGL data sharing initiative Nederland PubMed: Das 1998, Batten disease database, PubMed: Pearce 2013, Batten disease database - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 1 8 c.749G>T r.(749g>u) p.(Gly250Val) - pathogenic g.40542563C>A g.40076891C>A p.Gly250Val - PPT1_000013 - PubMed: Das 1998, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 8 c.774dup r.(?) p.(Gln259Thrfs*36) - pathogenic g.40542538dup g.40076866dup c.774-775insA - PPT1_000012 - PubMed: Salonen 2000, Batten disease database - - Germline - - - - - Johan den Dunnen
+?/. 1 8 c.775C>T r.(?) p.(Gln259*) ACMG likely pathogenic g.40542537G>A - - - PPT1_000095 - - - - Germline - - - - - Corina-Marcela Rus
+/. 1 - c.776insA r.(?) p.(Glu260Lysfs*35) - pathogenic g.? - p.Glu260LysfsX35 - NPHS2_000000 - PubMed: Miller 2013, Batten disease database - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.798+8G>A r.(=) p.(=) - likely benign g.40542506C>T g.40076834C>T PPT1(NM_000310.3):c.798+8G>A - PPT1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.837G>C r.(?) p.(Gln279His) - benign, likely benign g.40539817C>G g.40074145C>G PPT1(NM_000310.3):c.837G>C (p.Q279H) - PPT1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
+?/. 1 9 c.856G>T r.(?) p.(Glu286*) ACMG likely pathogenic g.40539798C>A - - - PPT1_000094 - - - - Germline - - - - - Corina-Marcela Rus
+/. 1 9 c.865del r.(?) p.(His289Ilefs*55) ACMG pathogenic g.40539789del - - - PPT1_000093 - - - - Germline - - - - - Corina-Marcela Rus
+/. 1 9 c.871C>T r.(871c>u) p.(Gln291*) - pathogenic g.40539783G>A g.40074111G>A p.Gln291X - PPT1_000011 - PubMed: Waliany 2000, Batten disease database - - Germline - - - - - Johan den Dunnen
+/. 1 9 c.886T>C r.(886u>c) p.(Trp296*) - pathogenic g.40539768A>G g.40074096A>G p.Trp296Arg - PPT1_000010 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - Johan den Dunnen
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