Full data view for gene ALPL

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

1198 entries on 12 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.(1309+1_1310-1)_*764{0} r.? p.? - Parent #2 - likely pathogenic g.(21903135_21903875)_(21904905_?)del g.(21576642_21577382)_(21578412_?)del del ex12 - ALPL_000434 - PubMed: Lia-Baldini 2001 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Lia-Baldini 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. 9i c.997+2T r.spl p.? - Parent #2 ACMG pathogenic g.21900294T>A g.21573801T>A - - ALPL_000286 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
./. - c.-1295374_*986269del r.0? p.0? - Unknown - pathogenic g.20540741_22890410del g.20214248_22563917del - - HSPG2_000007 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. 1 c.-195C>T r.(?) p.(=) - Parent #1 ACMG pathogenic g.21835920C>T g.21509427C>T - - ALPL_000048 - PubMed: Taillandier 2000 - - Germline - - - 0 - DNA SEQ - - HPP Pat1 PubMed: Taillandier 2000 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.-195C>T r.(?) p.(=) - Parent #2 ACMG pathogenic g.21835920C>T g.21509427C>T - - ALPL_000048 - PubMed: Taillandier 1999 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 1999 - - - - - - 0 - - 1 Johan den Dunnen
+?/. _1i_2i c.(-105+1_-104-1)_(61+1_62-1)del r.? p.0? - Parent #1 - pathogenic (recessive) g.(21836011_21880470)_(21880636_21887118)del g.(21509518_21553977)_(21554143_21560625)del del ex2 - ALPL_000429 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, H Mateus, Alexion Pharmaceuticals (USA) - - Germline - - - 0 - DNA SEQ - - HPP patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, H Mateus, Alexion Pharmaceuticals (USA) - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1i_2i c.(-105+1_-104-1)_(61+1_62-1)del r.? p.0? - Both (homozygous) - pathogenic (recessive) g.(21836011_21880470)_(21880636_21887118)del g.(21509518_21553977)_(21554143_21560625)del del ex2, g.(16650_17870)_(48651_50859)del - ALPL_000429 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab July 2013 - - Germline - - - 0 - DNA SEQ - - HPP patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab July 2013 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.(-105+1_-104-1)_(61+1_62-1)del r.? p.0? - Parent #1 - pathogenic (recessive) g.(21836011_21880470)_(21880636_21887118)del g.(21509518_21553977)_(21554143_21560625)del del ex2, g.(42056_43422)_(46936_47669)del - ALPL_000429 copied from {DB:ALPL}, Versailles lab Nov. 2018 - - - Germline - - - 0 - DNA SEQ - - HPP patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov. 2018 - - - France - - 0 - - 1 Johan den Dunnen
+/. 1i_6i c.(-105+1_-104-1)_(648+1_649-1)del r.? p.? - Parent #1 - 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 - - - 0 - DNA SEQ - - HPP patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, I Rau, Hamburg, Germany - - - Germany - - 0 - - 1 Johan den Dunnen
-?/. - c.-104-90_-104-899insAAAAA r.(=) p.(=) - Both (homozygous) - likely benign g.21896766_21896767del - g.48712insAAAAA - ALPL_000445 - PubMed: Mentrup 2016 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - HPP patient PubMed: Mentrup 2016 2-generation family, 1 affected unaffected heterozygous carrier parents M yes Germany Turkey - 0 - - 1 Johan den Dunnen
-?/. - - r.(=) p.(=) - Both (homozygous) - likely benign g.21831294_21831297del - ATTT[7] - ALPL_000444 - PubMed: Mentrup 2016 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - HPP patient PubMed: Mentrup 2016 2-generation family, 1 affected unaffected heterozygous carrier parents M yes Germany Turkey - 0 - - 1 Johan den Dunnen
-?/. - - r.(=) p.(=) - Both (homozygous) - likely benign g.21833225T>C - g.2368T>C - ALPL_000444 - PubMed: Mentrup 2016 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - HPP patient PubMed: Mentrup 2016 2-generation family, 1 affected unaffected heterozygous carrier parents M yes Germany Turkey - 0 - - 1 Johan den Dunnen
?/. 1i c.(-105+1_-104-1)del(3000) r.? p.? - Parent #2 - 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 - - - 0 - DNA SEQ - - HPP patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab - - - France - - 0 - - 1 Johan den Dunnen
+?/. 11i_12_ c.(1309+1_1310-1)_*764{0} r.? p.? 36 U/L parent Parent #1 - likely pathogenic (recessive) g.(21903135_21903875)_(21904905_?)del g.(21576642_21577382)_(21578412_?)del del ex12 (3' end) - ALPL_000434 - PubMed: Spentchian 2006 - - Germline - - - 0 - DNA SEQ - - HPP Pat8 PubMed: Spentchian 2006 - - - Germany - - 0 - - 1 Johan den Dunnen
+?/. 3i c.(181+1_182-1)del(?) r.? p.? - Parent #1 - likely pathogenic (recessive) g.(21887239_21887589)del(?) g.(21560746_21561096)del(?) del IVS3 - ALPL_000438 - PubMed: Whyte 2015 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Whyte 2015 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 5 c.(298_472)delins(?) r.? p.? - Parent #1 - pathogenic (recessive) g.(21889603_21889777)delinsN[?] g.(21563110_21563284)delinsN[?] indel exon 5 - ALPL_000437 - PubMed: Whyte 2015 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Whyte 2015 - - - United States - - 0 - - 2 Johan den Dunnen
+?/. _2_6i c.(?_-104-1)_(648+1_649-1del r.? p.? - Both (homozygous) 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 - - - 0 - DNA PCRq, SEQ - - HPP patient PubMed: Hacihamdioglu 2018 2-generation family, 1 affected unaffected heterozygous carrier parents M yes Turkey - - 0 - - 1 Johan den Dunnen
+/. _1_1i c.-257_(-105+1_-104-1){0} r.0? p.0? - Both (homozygous) - 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 - - - 0 - DNA SEQ - - HPP patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab July 2012 - - - France - - 0 - - 1 Johan den Dunnen
+/. _1_2i c.-257_(61+1_62-1){0} r.0? p.0? - Parent #1 - 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 - - - 0 - DNA SEQ - - HPP patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.-257_*764{0} r.0 p.0 - Parent #2 - pathogenic g.(?_21835858)_(21904905_?)del g.(?_21509365)_(21578412_?)del del gene - ALPL_000449 - PubMed: Mumm 2002 - - Germline - - - 0 - DNA SEQ - - HPP Pat1 PubMed: Mumm 2002 - - - United States - - 0 - - 1 Johan den Dunnen
?/. 5i c.573-2A>? r.? p.? - Parent #2 - VUS g.21890632A>? - 473-2G>C - ALPL_000448 - PubMed: Castells 2018 - - Germline - - - 0 - DNA SEQ - - HPP patient PubMed: Castells 2018 - M - Spain - 00y00m04d 0 - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(Pro?Gly) - Unknown - pathogenic g.? - 1581C>G (P446G) - NPHS2_000000 - PubMed: Cui 2012 - - Germline - - - 0 - DNA SEQ - - HPP patient PubMed: Cui 2012 - - - China - - 0 - - 1 Johan den Dunnen
+/. - c.2T>C r.(?) p.(Met1?) - Parent #2 ACMG pathogenic (recessive) g.21880576T>C g.21554083T>C - - ALPL_000500 ACMG PVS1, PM2, PM3 PubMed: Tang 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia Pat4 PubMed: Tang 2021 fetus - - China - - 0 - - 1 Johan den Dunnen
+?/. 2 c.3G>A r.(?) p.(Met1?) - Unknown ACMG likely pathogenic g.21880577G>A g.21554084G>A Met-17Ile - ALPL_000049 unknown variant 2nd allele PubMed: Mentrup 2011 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Mentrup 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.17T>A r.(?) p.(Leu6*) - Unknown ACMG pathogenic g.21880591T>A g.21554098T>A Leu-12Ter - ALPL_000050 unknown variant 2nd allele PubMed: Taillandier 2000 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 2000 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.18del r.(?) p.(Val7Tyrfs*12) - Parent #2 - pathogenic (recessive) g.21880592del g.21554099del 18delA - ALPL_000424 - - - - Germline - - - 0 - DNA SEQ-NG - - ? 11 - - M - China - - 0 - - 1 Sha Hong
+/. 2 c.18del r.(?) p.(Val7Tyrfs*12) - Parent #1 ACMG pathogenic (recessive) g.21880592del g.21554099del Val-11Tyrfs - ALPL_000051 - PubMed: Cui 2012 - - Germline - - - 0 - DNA SEQ - - HPP patient PubMed: Cui 2012 - - - China - - 0 - - 1 Johan den Dunnen
+/. 2 c.29T>C r.(?) p.(Ile10Thr) - Parent #1 ACMG pathogenic g.21880603T>C g.21554110T>C - - ALPL_000052 - PubMed: Xu 2018 - - Germline - - - 0 - DNA SEQ - - HPP Fam5 PubMed: Xu 2018 - M - China - - 0 - - 2 Johan den Dunnen
+/. 2 c.29T>C - p.Ile10Thr 0.29 relative activity, 0.65 WT/combined activity Unknown - NA g.21880603T>C g.21554110T>C - - ALPL_000052 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 p.(Ile10Thr) r.(?) p.(Ile10Thr) - Both (homozygous) ACMG VUS g.21880603T>C g.21554110T>C - - ALPL_000052 - Versailles lab June 2017 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab June 2017 - - - France - - 0 - - 1 Johan den Dunnen
-?/. 2 c.40C>T - p.Leu14Phe 1.06 relative activity, 1.13 WT/combined activity Unknown - 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) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.41T>C r.(?) p.(Leu14Pro) - Parent #2 - 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 - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jul 2010 - - - France - - 0 - - 1 Johan den Dunnen
+?/. 2 c.44C>G - p.Thr15Ser 0.88 relative activity, 1.31 WT/combined activity Unknown - 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) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.46_49del r.(?) p.(Asn16Profs*2) - Parent #1 ACMG pathogenic g.21880620_21880623del g.21554127_21554130del 43_46delACTA - ALPL_000054 - PubMed: de Roo 2014 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: de Roo 2014 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.46_49del r.(?) p.(Asn16Profs*2) - Parent #2 ACMG pathogenic g.21880620_21880623del g.21554127_21554130del pAsn-2Profs - ALPL_000054 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Vidmar 2017, copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Vidmar 2017, copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.46_49del r.(?) p.(Asn16Profs*2) - Parent #1 ACMG pathogenic g.21880620_21880623del g.21554127_21554130del pAsn-2Profs - ALPL_000054 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab March 2011 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab March 2011 - - - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.50C>T r.(?) p.(Ser17Phe) - Parent #2 - pathogenic g.21880624C>T g.21554131C>T - - ALPL_000055 - PubMed: Mornet 1998 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Mornet 1998 - - - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.61G>A r.(?) p.(Glu21Lys) - Unknown ACMG pathogenic g.21880635G>A g.21554142G>A Glu4Lys - ALPL_000056 unknown variant 2nd allele copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Research center for medical genetics, Moscow, Apr. 2015 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Research center for medical genetics, Moscow, Apr. 2015 - - - Russia - - 0 - - 1 Johan den Dunnen
+/. 2i c.62-1G>A r.spl p.? - Unknown ACMG pathogenic g.21887118G>A g.21560625G>A - - ALPL_000057 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Feb. 2019 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Feb. 2019 - - - France - - 0 - - 1 Johan den Dunnen
+/. 2i c.62-1G>C r.spl p.? - Both (homozygous) ACMG pathogenic g.21887118G>C g.21560625G>C - - ALPL_000058 - Versailles lab March 2013 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab March 2013 - - - France - - 0 - - 1 Johan den Dunnen
+?/. 2i_5 c.(61+1_62-1)_(298_472)del r.? p.? 13 U/L (normal >100) Both (homozygous) - 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 - - - 0 - DNA SEQ - - HPP Pat7 PubMed: Spentchian 2006 - - - Portugal - - 0 - - 1 Johan den Dunnen
?/. 3 c.69_74del r.(?) p.(Glu23_Lys24del) - Parent #1 - 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 - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab May 2012 - - - France - - 0 - - 1 Johan den Dunnen
+/. 3 c.82T>G r.(?) p.(Tyr28Asp) - Parent #2 ACMG pathogenic g.21887139T>G g.21560646T>G Tyr11Asp - ALPL_000060 - PubMed: Yang 2013 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Yang 2013 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.83A>G r.(?) p.(Tyr28Cys) - Parent #1 ACMG pathogenic g.21887140A>G g.21560647A>G Tyr11Cys - ALPL_000061 - PubMed: Taillandier 2001 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.85T>C r.(?) p.(Trp29Arg) - Parent #1 ACMG pathogenic g.21887142T>C g.21560649T>C Trp12Arg - ALPL_000062 - PubMed: Chen 2017 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Chen 2017 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.88C>T r.(?) p.(Arg30*) - Parent #1 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 - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Dec 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. 3 c.94C>T r.(?) p.(Gln32*) - Parent #1 - pathogenic g.21887151C>T g.21560658C>T Gln15Ter - ALPL_000064 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Apr 2011 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Apr 2011 - - - France - - 0 - - 1 Johan den Dunnen
?/. 3 c.97G>C r.(?) p.(Ala33Pro) - Parent #1 - VUS g.21887154G>C g.21560661G>C Ala16Pro - ALPL_000065 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, University of Brasilia Lab, July 2016 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, University of Brasilia Lab, July 2016 - - - Brazil - - 0 - - 1 Johan den Dunnen
+/. 3 c.98C>T r.(?) p.(Ala33Val) combined activity 6 U/L (normal >30) Parent #1 - pathogenic (recessive) g.21887155C>T g.21560662C>T A16V - ALPL_000066 - PubMed: Spentchian 2006 - - Germline - - - 0 - DNA SEQ - - HPP Pat3 PubMed: Spentchian 2006 - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 3 c.98C>T r.(?) p.(Ala33Val) - Parent #2 ACMG pathogenic g.21887155C>T g.21560662C>T Ala16Val - ALPL_000066 - PubMed: Brun-Heath 2005 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Brun-Heath 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.98C>T r.(?) p.(Ala33Val) - Parent #1 ACMG pathogenic g.21887155C>T g.21560662C>T Ala16Val - ALPL_000066 - PubMed: Henthorn 1992 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Henthorn 1992 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.98C>T r.(?) p.(Ala33Val) - Both (homozygous) ACMG pathogenic g.21887155C>T g.21560662C>T Ala16Val - ALPL_000066 - PubMed: Reis 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Reis 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.98C>T - p.Ala33Val 0.12 relative activity, 0.63 WT/combined activity Unknown - NA g.21887155C>T g.21560662C>T - - ALPL_000066 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 p.(Thr36Pro) r.(?) p.(Thr36Pro) - Both (homozygous) - VUS g.21887163A>C g.21560670A>C - - ALPL_000067 - Versailles lab Nov 2008 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov 2008 - - - France - - 0 - - 1 Johan den Dunnen
-?/. 3 c.107C>T - p.Thr36Ile 0.93 relative activity, 0.75 WT/combined activity Unknown - 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) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.110T>C r.(?) p.(Leu37Pro) - Both (homozygous) ACMG pathogenic g.21887167T>C g.21560674T>C Leu20Pro - ALPL_000068 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2003 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2003 - - - France - - 0 - - 1 Johan den Dunnen
+/. 3 p.(Leu37Pro) r.(?) p.(Leu37Pro) - Both (homozygous) ACMG pathogenic g.21887167T>C g.21560674T>C - - ALPL_000068 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
?/. 3 c.113_117delinsTG r.(?) p.(Lys38_Tyr39delinsMet) - Unknown - VUS g.21887170_21887174delinsTG g.21560677_21560681delinsTG [113_116del;118_119insG] (Lys21_Tyr22delinsMet) - ALPL_000069 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Dec. 2017 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Dec. 2017 - - - France - - 0 - - 1 Johan den Dunnen
+?/. 3 c.116A>G - p.Tyr39Cys 0.54 relative activity, 0.85 WT/combined activity Unknown - 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) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.119C>T r.(?) p.(Ala40Val) - Parent #1 ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - Parent #1 ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - Parent #1 ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: Mornet 1998 - - Germline - - - 0 - DNA SEQ - - HPP Mu1 PubMed: Mornet 1998 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - Parent #1 ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - Parent #1 ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - Parent #2 ACMG pathogenic g.21887176C>T g.21560683C>T - - ALPL_000070 - PubMed: Taillandier 2000 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 2000 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - Parent #2 ACMG pathogenic g.21887176C>T g.21560683C>T - - ALPL_000070 - PubMed: Taillandier 2001 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>T - p.Ala40Val 0.07 relative activity, 0.87 WT/combined activity Unknown - NA g.21887176C>T g.21560683C>T - - ALPL_000070 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.129del r.(?) p.(Gln44Argfs*24) - Parent #1 ACMG pathogenic g.21887186del g.21560693del Gln27Argfs - ALPL_000071 - PubMed: Whyte 2015 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Whyte 2015 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.130C>T r.(?) p.(Gln44*) - Parent #1 ACMG pathogenic g.21887187C>T g.21560694C>T Gln27Ter - ALPL_000072 - PubMed: Mornet 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Mornet 2020 - - - France - - 0 - - 1 Johan den Dunnen
?/. 3 c.140A>T r.(?) p.(Asn47Ile) - Parent #1 - VUS g.21887197A>T g.21560704A>T Asn30Ile - ALPL_000073 no variant 2nd allele PubMed: Saglam 2017 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Saglam 2017 - - - - - - 0 - - 1 Johan den Dunnen
?/. 3 p.(Asn47Ile) r.(?) p.(Asn47Ile) - Both (homozygous) - VUS g.21887197A>T g.21560704A>T - - ALPL_000073 - PubMed: Saglam 2017 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Saglam 2017 - - - - - - 0 - - 1 Johan den Dunnen
?/. 3 c.146A>T r.(?) p.(Asn49Ile) - Parent #2 - VUS g.21887203A>T g.21560710A>T Asn32Ile - ALPL_000074 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab May 2012 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab May 2012 - - - France - - 0 - - 1 Johan den Dunnen
+/. 3 c.151G>T r.(?) p.(Ala51Ser) - Parent #1 ACMG pathogenic g.21887208G>T g.21560715G>T Ala34Ser - ALPL_000075 - PubMed: Mumm 2002 - - Germline - - - 0 - DNA SEQ - - HPP Pat9 PubMed: Mumm 2002 - - - United States - - 0 - - 1 Johan den Dunnen
./. - c.152C>T r.(?) p.(Ala51Val) - Unknown - VUS g.21887209C>T g.21560716C>T - - ALPL_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 3 c.152C>T r.(?) p.(Ala51Val) - Parent #2 ACMG pathogenic g.21887209C>T g.21560716C>T Ala34Val - ALPL_000001 - PubMed: Taillandier 2000 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 2000 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.152C>T r.(?) p.(Ala51Val) - Parent #1 ACMG pathogenic g.21887209C>T g.21560716C>T Ala34Val - ALPL_000001 - PubMed: Taillandier 2001 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.152C>T r.(?) p.(Ala51Val) - Parent #2 ACMG pathogenic g.21887209C>T g.21560716C>T - - ALPL_000001 - PubMed: Taillandier 2001 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.152C>T - p.Ala51Val 0.04 relative activity, 0.52 WT/combined activity Unknown - NA g.21887209C>T g.21560716C>T - - ALPL_000001 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 p.(Ala51Val) r.(?) p.(Ala51Val) - Both (homozygous) ACMG pathogenic g.21887209C>T g.21560716C>T - - ALPL_000001 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 3 c.165_167del r.(?) p.(Ile55del) - Parent #1 ACMG likely pathogenic g.21887222_21887224del g.21560729_21560731del Ile38del - ALPL_000456 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
?/. 3 c.178G>C r.(?) p.(Asp60His) - Unknown ACMG VUS g.21887235G>C g.21560742G>C Asp43His - ALPL_000076 - PubMed: McKiernan 2017 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: McKiernan 2017 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.180T>G r.(?) p.(Asp60Glu) - Unknown ACMG pathogenic g.21887237T>G g.21560744T>G Asp43Glu - ALPL_000077 - PubMed: Whyte 2015 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Whyte 2015 - - - - - - 0 - - 1 Johan den Dunnen
?/. 3i c.182-3C>A r.spl? p.? - Parent #1 - VUS g.21887587C>A g.21561094C>A - - ALPL_000457 - PubMed: Mornet 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Mornet 2020 - - - France - - 0 - - 1 Johan den Dunnen
+/. 3i c.182-2A>C r.spl p.? - Unknown ACMG pathogenic g.21887588A>C g.21561095A>C - - ALPL_000078 - PubMed: Whyte 2015 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Whyte 2015 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.184A>G r.(?) p.(Met62Val) 2-16 U/L (normal >100) Both (homozygous) - pathogenic (recessive) g.21887592A>G g.21561099A>G - - ALPL_000080 - PubMed: Spentchian 2003, Journal: Spentchian 2003 - - Germline - - - 0 - DNA SEQ - - HPP PatA PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Turkey - - 0 - - 1 Johan den Dunnen
+/. 4 c.184A>T r.(?) p.(Met62Leu) - Parent #2 ACMG pathogenic g.21887592A>T g.21561099A>T Met45Leu - ALPL_000079 - PubMed: Taillandier 1999 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 1999 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.186G>C r.(?) p.(Met62Ile) - Parent #1 ACMG pathogenic g.21887594G>C g.21561101G>C Met45Ile - ALPL_000081 - PubMed: Taillandier 2005 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.187G>C r.(?) p.(Gly63Arg) 9-50 U/L (normal >100) Both (homozygous) - pathogenic (recessive) g.21887595G>C g.21561102G>C - - ALPL_000082 - PubMed: Spentchian 2003, Journal: Spentchian 2003 - - Germline - - - 0 - DNA SEQ - - HPP PatJ PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Serbia - - 0 - - 1 Johan den Dunnen
+/. 4 c.187_205del r.(?) p.(Gly63Leufs*53) - Unknown - pathogenic g.21887595_21887613del g.21561102_21561120del 187_205del19 - ALPL_000083 - PubMed: Taillandier 2017 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 2017 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.187_205del r.(?) p.(Gly63Leufs*53) - Parent #1 - 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 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jan 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.188G>T r.(?) p.(Gly63Val) - Unknown ACMG pathogenic g.21887596G>T g.21561103G>T Gly46Val - ALPL_000084 - PubMed: Lia-Baldini 2001 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Lia-Baldini 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.188_205dup r.(?) p.(Gly63_Thr68dup) - Unknown ACMG pathogenic g.21887596_21887613dup g.21561103_21561120dup 188_205dup18 - ALPL_000085 unknown variant 2nd allele PubMed: Guanabens 2013 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Guanabens 2013 - - - - - - 0 - - 1 Johan den Dunnen
?/. 4 p.(Ser65Tyr) r.(?) p.(Ser65Tyr) - Both (homozygous) - VUS g.21887602C>A g.21561109C>A - - ALPL_000086 - PubMed: Saglam 2017 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Saglam 2017 - - - - - - 0 - - 1 Johan den Dunnen
?/. 4 c.202_204del r.(?) p.(Thr68del) - Unknown - VUS g.21887610_21887612del g.21561117_21561119del Thr51del - ALPL_000087 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, S. Lazarus, Royal Brisbane Women's Hospital, Herston, Australia - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, S. Lazarus, Royal Brisbane Women's Hospital, Herston, Australia - - - Australia - - 0 - - 1 Johan den Dunnen
+/. 4 c.203C>T r.(?) p.(Thr68Met) - Unknown ACMG pathogenic g.21887611C>T g.21561118C>T Thr51Met - ALPL_000088 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.203C>T r.(?) p.(Thr68Met) - Parent #1 ACMG pathogenic g.21887611C>T g.21561118C>T Thr51Met - ALPL_000088 - PubMed: Orimo 2002 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Orimo 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.203C>T r.(?) p.(Thr68Met) - Parent #1 ACMG pathogenic g.21887611C>T g.21561118C>T Thr51Met - ALPL_000088 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.203C>T r.(?) p.(Thr68Met) - Parent #2 ACMG pathogenic g.21887611C>T g.21561118C>T - - ALPL_000088 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.203C>T r.(?) p.(Thr68Met) - Parent #2 ACMG pathogenic g.21887611C>T g.21561118C>T - - ALPL_000088 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov. 2013, PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov. 2013, PubMed: del Angel 2020 - - - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.203C>T r.(?) p.(Thr68Met) - Parent #1 ACMG pathogenic g.21887611C>T g.21561118C>T Thr51Met - ALPL_000088 - PubMed: Mao 2019 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Mao 2019 - - - - - - 0 - - 1 Johan den Dunnen
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