Unique variants in the ALPL gene

Information The variants shown are described using the NM_000478.4 transcript reference sequence.

529 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

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.(1309+1_1310-1)_*764{0} r.? p.? - - likely pathogenic g.(21903135_21903875)_(21904905_?)del g.(21576642_21577382)_(21578412_?)del del ex12 - ALPL_000434 - PubMed: Lia-Baldini 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 9i c.997+2T r.spl p.? - ACMG pathogenic g.21900294T>A g.21573801T>A - - ALPL_000286 - PubMed: del Angel 2020 - - Germline - - - - - Johan den Dunnen
./. 1 - c.-1295374_*986269del r.0? p.0? - - pathogenic g.20540741_22890410del g.20214248_22563917del - - HSPG2_000007 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. 2 1 c.-195C>T r.(?) p.(=) - ACMG pathogenic g.21835920C>T g.21509427C>T - - ALPL_000048 - PubMed: Taillandier 1999, PubMed: Taillandier 2000 - - Germline - - - - - Johan den Dunnen
+/., +?/. 3 1i_2i, _1i_2i c.(-105+1_-104-1)_(61+1_62-1)del r.? p.0? - - pathogenic (recessive) g.(21836011_21880470)_(21880636_21887118)del g.(21509518_21553977)_(21554143_21560625)del del ex2, del ex2, g.(16650_17870)_(48651_50859)del, del ex2, g.(42056_43422)_(46936_47669)del - ALPL_000429 copied from {DB:ALPL}, Versailles lab Nov. 2018 2 more items - - Germline - - - - - Johan den Dunnen
+/. 1 1i_6i c.(-105+1_-104-1)_(648+1_649-1)del r.? p.? - - pathogenic (recessive) g.(21836011_21880470)_(21890710_21894596)del g.(21509518_21553977)_(21564217_21568103)del del ex2-6 - ALPL_000435 copied from {DB:ALPL}, I Rau, Hamburg, Germany - - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.-104-90_-104-899insAAAAA r.(=) p.(=) - - likely benign g.21896766_21896767del - g.48712insAAAAA - ALPL_000445 - PubMed: Mentrup 2016 - - Germline - - - - - Johan den Dunnen
-?/. 2 - - r.(=) p.(=) - - likely benign g.21831294_21831297del, g.21833225T>C - ATTT[7], g.2368T>C - ALPL_000444 - PubMed: Mentrup 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 1i c.(-105+1_-104-1)del(3000) r.? p.? - - VUS g.(21836011_21880470)del(3000) g.(21509518_21553977)del(3000) 3kb del IVS1, g.(15599_18599)del - ALPL_000431 compound heterozygote, copied from {DB:ALPL}, Versailles lab Oct. 2016 - - - Germline - - - - - Johan den Dunnen
+?/. 1 11i_12_ c.(1309+1_1310-1)_*764{0} r.? p.? 36 U/L parent - likely pathogenic (recessive) g.(21903135_21903875)_(21904905_?)del g.(21576642_21577382)_(21578412_?)del del ex12 (3' end) - ALPL_000434 - PubMed: Spentchian 2006 - - Germline - - - - - Johan den Dunnen
+?/. 1 3i c.(181+1_182-1)del(?) r.? p.? - - likely pathogenic (recessive) g.(21887239_21887589)del(?) g.(21560746_21561096)del(?) del IVS3 - ALPL_000438 - PubMed: Whyte 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.(298_472)delins(?) r.? p.? - - pathogenic (recessive) g.(21889603_21889777)delinsN[?] g.(21563110_21563284)delinsN[?] indel exon 5 - ALPL_000437 - PubMed: Whyte 2015 - - Germline - - - - - Johan den Dunnen
+?/. 1 _2_6i c.(?_-104-1)_(648+1_649-1del r.? p.? - ACMG likely pathogenic (recessive) g.(?_21880470)_(21890710_21894596)del g.(?_21553977)_(21564217_21568103)del dup ex2-6 (ex1 not tested) - ALPL_000428 - PubMed: Hacihamdioglu 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_1i c.-257_(-105+1_-104-1){0} r.0? p.0? - - pathogenic (recessive) g.(?_21835858)_(21836011_21880470)del g.(?_21509365)_(21509518_21553977)del del ex1 - ALPL_000432 copied from {DB:ALPL}, Versailles lab July 2012 - - - Germline - - - - - Johan den Dunnen
+/. 1 _1_2i c.-257_(61+1_62-1){0} r.0? p.0? - - pathogenic (recessive) g.(?_21835858)_(21880636_21887118)del g.(?_21509365)_(21554143_21560625)del del ex1-2, g.(1-54621_1-35638)_(44833_46877)del - ALPL_000430 compound heterozygote, copied from {DB:ALPL}, Versailles lab May 2016 - - - Germline - - - - - Johan den Dunnen
+/. 1 - c.-257_*764{0} r.0 p.0 - - pathogenic g.(?_21835858)_(21904905_?)del g.(?_21509365)_(21578412_?)del del gene - ALPL_000449 - PubMed: Mumm 2002 - - Germline - - - - - Johan den Dunnen
?/. 1 5i c.573-2A>? r.? p.? - - VUS g.21890632A>? - 473-2G>C - ALPL_000448 - PubMed: Castells 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.? r.(?) p.(Pro?Gly) - - pathogenic g.? - 1581C>G (P446G) - NPHS2_000000 - PubMed: Cui 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.2T>C r.(?) p.(Met1?) - ACMG pathogenic (recessive) g.21880576T>C g.21554083T>C - - ALPL_000500 ACMG PVS1, PM2, PM3 PubMed: Tang 2021 - - Germline - - - - - Johan den Dunnen
+?/. 1 2 c.3G>A r.(?) p.(Met1?) - ACMG likely pathogenic g.21880577G>A g.21554084G>A Met-17Ile - ALPL_000049 unknown variant 2nd allele PubMed: Mentrup 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.17T>A r.(?) p.(Leu6*) - ACMG pathogenic g.21880591T>A g.21554098T>A Leu-12Ter - ALPL_000050 unknown variant 2nd allele PubMed: Taillandier 2000 - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.18del r.(?) p.(Val7Tyrfs*12) - ACMG pathogenic (recessive) g.21880592del g.21554099del 18delA, Val-11Tyrfs - ALPL_000051, ALPL_000424 - PubMed: Cui 2012 - - Germline - - - - - Johan den Dunnen, Sha Hong
+/. 2 2 c.29T>C -, r.(?) p.(Ile10Thr), p.Ile10Thr 0.29 relative activity, 0.65 WT/combined activity ACMG NA, pathogenic g.21880603T>C g.21554110T>C - - ALPL_000052 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020, PubMed: Xu 2018 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
?/. 1 2 p.(Ile10Thr) r.(?) p.(Ile10Thr) - ACMG VUS g.21880603T>C g.21554110T>C - - ALPL_000052 - Versailles lab June 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 2 c.40C>T - p.Leu14Phe 1.06 relative activity, 1.13 WT/combined activity - NA g.21880614C>T g.21554121C>T - - ALPL_000452 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - - - Johan den Dunnen
?/. 1 2 c.41T>C r.(?) p.(Leu14Pro) - - VUS g.21880615T>C g.21554122T>C Leu-4Pro - ALPL_000053 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jul 2010 - - Germline - - - - - Johan den Dunnen
+?/. 1 2 c.44C>G - p.Thr15Ser 0.88 relative activity, 1.31 WT/combined activity - NA g.21880618C>G g.21554125C>G - - ALPL_000453 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - - - Johan den Dunnen
+/. 3 2 c.46_49del r.(?) p.(Asn16Profs*2) - ACMG pathogenic g.21880620_21880623del g.21554127_21554130del 43_46delACTA, pAsn-2Profs - ALPL_000054 - PubMed: de Roo 2014, 2 more items - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.50C>T r.(?) p.(Ser17Phe) - - pathogenic g.21880624C>T g.21554131C>T - - ALPL_000055 - PubMed: Mornet 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.61G>A r.(?) p.(Glu21Lys) - ACMG pathogenic g.21880635G>A g.21554142G>A Glu4Lys - ALPL_000056 unknown variant 2nd allele 1 more item - - Germline - - - - - Johan den Dunnen
+/. 1 2i c.62-1G>A r.spl p.? - ACMG pathogenic g.21887118G>A g.21560625G>A - - ALPL_000057 - 1 more item - - Germline - - - - - Johan den Dunnen
+/. 1 2i c.62-1G>C r.spl p.? - ACMG pathogenic g.21887118G>C g.21560625G>C - - ALPL_000058 - Versailles lab March 2013 - - Germline - - - - - Johan den Dunnen
+?/. 1 2i_5 c.(61+1_62-1)_(298_472)del r.? p.? 13 U/L (normal >100) - VUS g.(21880636_21887118)_(21889603_21889777)del g.(21554143_21560625)_(21563110_21563284)del del ex3-5(?), g.(44834_46878)_(51650_52773)del - ALPL_000427 - PubMed: Spentchian 2006 - - Germline - - - - - Johan den Dunnen
?/. 1 3 c.69_74del r.(?) p.(Glu23_Lys24del) - - VUS g.21887126_21887131del g.21560633_21560638del Glu4_Lys5del - ALPL_000059 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab May 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.82T>G r.(?) p.(Tyr28Asp) - ACMG pathogenic g.21887139T>G g.21560646T>G Tyr11Asp - ALPL_000060 - PubMed: Yang 2013 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.83A>G r.(?) p.(Tyr28Cys) - ACMG pathogenic g.21887140A>G g.21560647A>G Tyr11Cys - ALPL_000061 - PubMed: Taillandier 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.85T>C r.(?) p.(Trp29Arg) - ACMG pathogenic g.21887142T>C g.21560649T>C Trp12Arg - ALPL_000062 - PubMed: Chen 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.88C>T r.(?) p.(Arg30*) - ACMG pathogenic g.21887145C>T g.21560652C>T Arg13Ter - ALPL_000063 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Dec 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.94C>T r.(?) p.(Gln32*) - - pathogenic g.21887151C>T g.21560658C>T Gln15Ter - ALPL_000064 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Apr 2011 - - Germline - - - - - Johan den Dunnen
?/. 1 3 c.97G>C r.(?) p.(Ala33Pro) - - VUS g.21887154G>C g.21560661G>C Ala16Pro - ALPL_000065 - 1 more item - - Germline - - - - - Johan den Dunnen
+/. 5 3 c.98C>T -, r.(?) p.(Ala33Val), p.Ala33Val 0.12 relative activity, 0.63 WT/combined activity, combined activity 6 U/L (normal >30) ACMG NA, pathogenic, pathogenic (recessive) g.21887155C>T g.21560662C>T A16V, Ala16Val - ALPL_000066 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: Brun-Heath 2005, PubMed: del Angel 2020, PubMed: Henthorn 1992, PubMed: Reis 2020, 1 more item - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
?/. 1 3 p.(Thr36Pro) r.(?) p.(Thr36Pro) - - VUS g.21887163A>C g.21560670A>C - - ALPL_000067 - Versailles lab Nov 2008 - - Germline - - - - - Johan den Dunnen
-?/. 1 3 c.107C>T - p.Thr36Ile 0.93 relative activity, 0.75 WT/combined activity - NA g.21887164C>T g.21560671C>T - - ALPL_000454 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 3 c.110T>C r.(?) p.(Leu37Pro) - ACMG pathogenic g.21887167T>C g.21560674T>C Leu20Pro - ALPL_000068 - 1 more item - - Germline - - - - - Johan den Dunnen
+/. 1 3 p.(Leu37Pro) r.(?) p.(Leu37Pro) - ACMG pathogenic g.21887167T>C g.21560674T>C - - ALPL_000068 - PubMed: del Angel 2020 - - Germline - - - - - Johan den Dunnen
?/. 1 3 c.113_117delinsTG r.(?) p.(Lys38_Tyr39delinsMet) - - VUS g.21887170_21887174delinsTG g.21560677_21560681delinsTG [113_116del;118_119insG] (Lys21_Tyr22delinsMet) - ALPL_000069 - 1 more item - - Germline - - - - - Johan den Dunnen
+?/. 1 3 c.116A>G - p.Tyr39Cys 0.54 relative activity, 0.85 WT/combined activity - NA g.21887173A>G g.21560680A>G - - ALPL_000455 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - - - Johan den Dunnen
+/., +?/. 8 3 c.119C>T -, r.(?) p.(Ala40Val), p.Ala40Val 0.07 relative activity, 0.87 WT/combined activity ACMG NA, pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020, PubMed: Mornet 1998, PubMed: Taillandier 2000, PubMed: Taillandier 2001 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 3 c.129del r.(?) p.(Gln44Argfs*24) - ACMG pathogenic g.21887186del g.21560693del Gln27Argfs - ALPL_000071 - PubMed: Whyte 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.130C>T r.(?) p.(Gln44*) - ACMG pathogenic g.21887187C>T g.21560694C>T Gln27Ter - ALPL_000072 - PubMed: Mornet 2020 - - Germline - - - - - Johan den Dunnen
?/. 1 3 c.140A>T r.(?) p.(Asn47Ile) - - VUS g.21887197A>T g.21560704A>T Asn30Ile - ALPL_000073 no variant 2nd allele PubMed: Saglam 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 3 p.(Asn47Ile) r.(?) p.(Asn47Ile) - - VUS g.21887197A>T g.21560704A>T - - ALPL_000073 - PubMed: Saglam 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 3 c.146A>T r.(?) p.(Asn49Ile) - - VUS g.21887203A>T g.21560710A>T Asn32Ile - ALPL_000074 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab May 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.151G>T r.(?) p.(Ala51Ser) - ACMG pathogenic g.21887208G>T g.21560715G>T Ala34Ser - ALPL_000075 - PubMed: Mumm 2002 - - Germline - - - - - Johan den Dunnen
+/., ./. 5 3 c.152C>T -, r.(?) p.(Ala51Val), p.Ala51Val 0.04 relative activity, 0.52 WT/combined activity ACMG NA, pathogenic, VUS g.21887209C>T g.21560716C>T Ala34Val - ALPL_000001 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020, PubMed: Taillandier 2000, PubMed: Taillandier 2001 - - Germline, In vitro (cloned) - - - - - Gerard C.P. Schaafsma, Johan den Dunnen
+/. 1 3 p.(Ala51Val) r.(?) p.(Ala51Val) - ACMG pathogenic g.21887209C>T g.21560716C>T - - ALPL_000001 - PubMed: del Angel 2020 - - Germline - - - - - Johan den Dunnen
+?/. 1 3 c.165_167del r.(?) p.(Ile55del) - ACMG likely pathogenic g.21887222_21887224del g.21560729_21560731del Ile38del - ALPL_000456 - PubMed: del Angel 2020 - - Germline - - - - - Johan den Dunnen
?/. 1 3 c.178G>C r.(?) p.(Asp60His) - ACMG VUS g.21887235G>C g.21560742G>C Asp43His - ALPL_000076 - PubMed: McKiernan 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.180T>G r.(?) p.(Asp60Glu) - ACMG pathogenic g.21887237T>G g.21560744T>G Asp43Glu - ALPL_000077 - PubMed: Whyte 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 3i c.182-3C>A r.spl? p.? - - VUS g.21887587C>A g.21561094C>A - - ALPL_000457 - PubMed: Mornet 2020 - - Germline - - - - - Johan den Dunnen
+/. 1 3i c.182-2A>C r.spl p.? - ACMG pathogenic g.21887588A>C g.21561095A>C - - ALPL_000078 - PubMed: Whyte 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.184A>G r.(?) p.(Met62Val) 2-16 U/L (normal >100) - pathogenic (recessive) g.21887592A>G g.21561099A>G - - ALPL_000080 - PubMed: Spentchian 2003, Journal: Spentchian 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.184A>T r.(?) p.(Met62Leu) - ACMG pathogenic g.21887592A>T g.21561099A>T Met45Leu - ALPL_000079 - PubMed: Taillandier 1999 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.186G>C r.(?) p.(Met62Ile) - ACMG pathogenic g.21887594G>C g.21561101G>C Met45Ile - ALPL_000081 - PubMed: Taillandier 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.187G>C r.(?) p.(Gly63Arg) 9-50 U/L (normal >100) - pathogenic (recessive) g.21887595G>C g.21561102G>C - - ALPL_000082 - PubMed: Spentchian 2003, Journal: Spentchian 2003 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.187_205del r.(?) p.(Gly63Leufs*53) - - pathogenic g.21887595_21887613del g.21561102_21561120del 187_205del19 - ALPL_000083 no variant 2nd allele copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jan 2010, 1 more item - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.188G>T r.(?) p.(Gly63Val) - ACMG pathogenic g.21887596G>T g.21561103G>T Gly46Val - ALPL_000084 - PubMed: Lia-Baldini 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.188_205dup r.(?) p.(Gly63_Thr68dup) - ACMG pathogenic g.21887596_21887613dup g.21561103_21561120dup 188_205dup18 - ALPL_000085 unknown variant 2nd allele PubMed: Guanabens 2013 - - Germline - - - - - Johan den Dunnen
?/. 1 4 p.(Ser65Tyr) r.(?) p.(Ser65Tyr) - - VUS g.21887602C>A g.21561109C>A - - ALPL_000086 - PubMed: Saglam 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 4 c.202_204del r.(?) p.(Thr68del) - - VUS g.21887610_21887612del g.21561117_21561119del Thr51del - ALPL_000087 - 1 more item - - Germline - - - - - Johan den Dunnen
+/. 7 4 c.203C>T -, r.(?) p.(Thr68Met), p.Thr68Met 0.03 relative activity, 0.37 WT/combined activity ACMG NA, pathogenic g.21887611C>T g.21561118C>T Thr51Met - ALPL_000088 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020, PubMed: Mao 2019, PubMed: Orimo 2002, 1 more item - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
?/. 1 4 p.(Ala70Thr) r.(?) p.(Ala70Thr) - ACMG VUS g.21887616G>A g.21561123G>A - - ALPL_000089 - S. Brugger and T. Brown (Alexion) - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.211C>A r.(?) p.(Arg71Ser) - ACMG pathogenic g.21887619C>A g.21561126C>A Arg54Ser - ALPL_000092 unknown variant 2nd allele PubMed: Orimo 2002 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.211C>G r.(?) p.(Arg71Gly) - ACMG pathogenic g.21887619C>G g.21561126C>G Arg54Gly - ALPL_000091 no variant 2nd allele PubMed: Tenorio 2017, 1 more item - - Germline - - - - - Johan den Dunnen
+/. 3 4 c.211C>T -, r.(?) p.(Arg71Cys), p.Arg71Cys 0.08 relative activity, 0.33 WT/combined activity ACMG NA, pathogenic g.21887619C>T g.21561126C>T Arg54Cys - ALPL_000090 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020, PubMed: Henthorn 1992 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 6 4 c.212G>A -, r.(?) p.(Arg71His), p.Arg71His 0.07 relative activity, 0.33 WT/combined activity ACMG NA, pathogenic, pathogenic (recessive) g.21887620G>A g.21561127G>A Arg54His - ALPL_000094 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020, PubMed: Mao 2019, PubMed: Mumm 2002, PubMed: Reibel 2009, PubMed: Whyte 2015, 1 more item - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 3 4 c.212G>C -, r.(?) p.(Arg71Pro), p.Arg71Pro 0.04 relative activity, 0.60 WT/combined activity ACMG NA, pathogenic g.21887620G>C g.21561127G>C Arg54Pro - ALPL_000093 1 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: del Angel 2020, PubMed: Henthorn 1992, PubMed: Narang 2020, Journal: Narang 2020 - rs121918003 Germline, In vitro (cloned) - 1/2794 individuals - - - Johan den Dunnen, Mohammed Faruq
?/. 1 4 p.(Ile72Val) r.(?) p.(Ile72Val) - - VUS g.21887622A>G g.21561129A>G 216A>G - ALPL_000095 - Versailles lab dec. 2014 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.215T>C r.(?) p.(Ile72Thr) - ACMG pathogenic g.21887623T>C g.21561130T>C Ile55Thr - ALPL_000096 - 1 more item - - Germline - - - - - Johan den Dunnen
?/. 2 4 c.217_219del r.(?) p.(Leu73del) - - VUS g.21887625_21887627del g.21561132_21561134del Leu56del - ALPL_000097 no variant 2nd allele PubMed: Tenorio 2017, 1 more item - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.223G>A r.(?) p.(Gly75Ser) - ACMG pathogenic g.21887631G>A g.21561138G>A Gly58Ser - ALPL_000098 - PubMed: Mornet 1998 - - Germline - - - - - Johan den Dunnen
+/. 4 4 c.227A>G -, r.(?) p.(Gln76Arg), p.Gln76Arg 0.03 relative activity, 0.40 WT/combined activity ACMG NA, pathogenic g.21887635A>G g.21561142A>G Gln59Arg - ALPL_000099 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020, PubMed: Mornet 2001 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 4 c.228del r.(?) p.(Gln76Hisfs*46) - ACMG pathogenic g.21887636del g.21561143del 228delG - ALPL_000101 - PubMed: Li 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.228G>T r.(?) p.(Gln76His) - ACMG pathogenic g.21887636G>T g.21561143G>T - - ALPL_000100 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.242del r.(?) p.(Pro81Leufs*41) - - pathogenic g.21887650del g.21561157del Pro64Leufs - ALPL_000102 - PubMed: del Angel 2020 - - Germline - - - - - Johan den Dunnen
+/. 1 4 p.(Pro81Leufs*41) r.(?) p.(Pro81Leufs*41) - - pathogenic g.21887650del g.21561157del 242delC - ALPL_000102 - Versailles lab Jul 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.247G>T r.(?) p.(Glu83Ter) - - pathogenic g.21887655G>T g.21561162G>T - - ALPL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4 p.(Glu83*) r.(?) p.(Glu83*) - - pathogenic g.21887655G>T g.21561162G>T - - ALPL_000027 - Versailles lab Apr 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.251A>T r.(?) p.(Glu84Val) - ACMG pathogenic g.21887659A>T g.21561166A>T Glu67Val - ALPL_000103 unknown variant 2nd allele PubMed: Wei 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 4 c.252G>C r.(?) p.(Glu84Asp) - - VUS g.21887660G>C g.21561167G>C Glu67Asp - ALPL_000104 - PubMed: Whyte 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.262G>A r.(?) p.(Glu88Lys) - ACMG pathogenic g.21887670G>A g.21561177G>A Glu71Lys - ALPL_000105 - PubMed: Mohn 2011 - - Germline - - - - - Johan den Dunnen
+?/. 2 4 c.277C>T -, r.(?) p.(Pro93Ser), p.Pro93Ser 0.70 relative activity, 1.21 WT/combined activity ACMG NA, pathogenic g.21887685C>T g.21561192C>T Pro76Ser - ALPL_000106 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020, PubMed: Peach 2007 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/., +?/. 3 4 c.283G>A -, r.(?) p.(Val95Met), p.Val95Met 0.57 relative activity, 0.80 WT/combined activity ACMG NA, pathogenic g.21887691G>A g.21561198G>A Val78Met - ALPL_000107 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020, PubMed: Yokoi 2019, 1 more item - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 - c.293C>T r.(?) p.(Ser98Phe) - - pathogenic g.21887701C>T - - - ALPL_000499 - - - - Germline yes - - - - Malak Alghamdi
?/. 1 4 c.297G>C r.(?) p.(Lys99Asn) - - VUS g.21887705G>C g.21561212G>C Lys82Asn - ALPL_000108 - PubMed: Seefried 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 4i c.297+2T>A r.spl p.? - - VUS g.21887707T>A g.21561214T>A - - ALPL_000109 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, ClinVar (Counsyl) - - Germline - - - - - Johan den Dunnen
+?/. 1 4i c.297+3G>T r.spl? p.? - ACMG likely pathogenic g.21887708G>T g.21561215G>T - - ALPL_000110 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jan 2011 - - Germline - - - - - Johan den Dunnen
+/. 3 4i c.298-2A>G r.spl p.? - ACMG pathogenic g.21889601A>G g.21563108A>G - - ALPL_000111 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab, 1 more item - - Germline - - - - - Johan den Dunnen
+/. 1 4i c.298-1G>A r.spl p.? - ACMG pathogenic g.21889602G>A g.21563109G>A - - ALPL_000112 - PubMed: Zhang 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 4i_5i c.(297+1_298-1)_(472+1_473-1)del r.? p.? - - pathogenic (recessive) g.(21887706_21889602)_(21889778_21890533)del g.(21561213_21563109)_(21563285_21564040)del del ex5 - ALPL_000436 copied from {DB:ALPL}, Versailles lab April 2018 - - - Germline - - - - - Johan den Dunnen
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