Full data view for gene MPO

Information The variants shown are described using the NM_000250.1 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. _1 - - - Unknown - association g.56358762C>T g.58281401A>G - - MPO_000024 -643G>A; significantly associated with AD, in male patients carrying MPO-A and APOE-E4 alleles relative to men carrying neither allele PubMed: Reynolds 2000 - - Germline - - - - - DNA PCR - - AD cases PubMed: Reynolds 2000 comparison 127 patients with AD and 174 controls - - Finland - - - - - 1 Johan den Dunnen
-/. - c.157G>T r.(?) p.(Val53Phe) Unknown - benign g.56357818C>A g.58280457C>A MPO(NM_000250.2):c.157G>T (p.V53F) - MPO_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225G>A r.(?) p.(Lys75=) Unknown - likely benign g.56357750C>T g.58280389C>T MPO(NM_000250.1):c.225G>A (p.K75=) - MPO_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.325del r.(?) p.(Thr109Profs*5) Parent #1 - pathogenic (recessive) g.56357299del g.58279938del 325delA - MPO_000028 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat6 CE PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.518A>G r.(?) p.(Tyr173Cys) Unknown - pathogenic g.56356914T>C g.58279553T>C MPO(NM_000250.1):c.518A>G (p.Y173C) - MPO_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.518A>G r.(?) p.(Tyr173Cys) Unknown - pathogenic g.56356914T>C g.58279553T>C MPO(NM_000250.1):c.518A>G (p.Y173C) - MPO_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.518A>G r.(?) p.(Tyr173Cys) Parent #1 - pathogenic g.56356914T>C g.58279553T>C A681G - MPO_000009 no variant 2nd allele identified PubMed: DeLeo 1998 - - Germline - - - - - DNA SEQ - - MPOD FamSPatBS PubMed: DeLeo 1998 3-generation family, 1 affected, several heterozygous carriers M - United States - - - - - 1 Johan den Dunnen
+/. - c.518A>G r.(?) p.(Tyr173Cys) Parent #1 - association g.56356914T>C - - - MPO_000009 associated with increased neutrophil accumulation PubMed: Vergnano 2020, Journal: Vergnano 2020 - - Germline - - - - - DNA arraySNP - - ? cases PubMed: Vergnano 2020, Journal: Vergnano 2020 association analysis UK biobank - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.522C>T r.(?) p.(Arg174=) Unknown - likely benign g.56356910G>A g.58279549G>A MPO(NM_000250.1):c.522C>T (p.R174=) - MPO_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.604G>T r.(?) p.(Glu202*) Unknown - pathogenic g.56356732C>A - MPO(NM_000250.1):c.604G>T (p.E202*) - MPO_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.608A>C r.(?) p.(Tyr203Ser) Unknown - VUS g.56356728T>G g.58279367T>G MPO(NM_000250.1):c.608A>C (p.Y203S) - MPO_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.752T>C r.(?) p.(Met251Thr) Maternal (confirmed) - pathogenic g.56356502A>G g.58279141A>G - - MPO_000012 - PubMed: Papuc 2019 - rs56378716 Germline - - - - - DNA SEQ-NG-I blood WES EE 73450 - mother German, father Swiss/Ghanaian M no Germany;Ghana;Switzerland - - - - - 1 Anaïs Begemann
-?/. - c.752T>C r.(?) p.(Met251Thr) Unknown - likely benign g.56356502A>G g.58279141A>G MPO(NM_000250.1):c.752T>C (p.M251T), MPO(NM_000250.2):c.752T>C (p.M251T) - MPO_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.752T>C r.(?) p.(Met251Thr) Unknown - likely benign g.56356502A>G g.58279141A>G MPO(NM_000250.1):c.752T>C (p.M251T), MPO(NM_000250.2):c.752T>C (p.M251T) - MPO_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.752T>C r.(?) p.(Met251Thr) Parent #1 - pathogenic g.56356502A>G g.58279141A>G - - MPO_000012 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56378716 Germline - 10/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
+/. - c.752T>C r.(?) p.(Met251Thr) Parent #1 - pathogenic (recessive) g.56356502A>G g.58279141A>G - - MPO_000012 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat3 ZA PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.752T>C r.(?) p.(Met251Thr) Parent #1 - pathogenic (recessive) g.56356502A>G g.58279141A>G - - MPO_000012 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat9 CA PubMed: Marchetti 2004, Journal: Marchetti 2020 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.752T>C r.(?) p.(Met251Thr) Parent #1 - pathogenic (recessive) g.56356502A>G g.58279141A>G - - MPO_000012 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat12 MA PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.752T>C r.(?) p.(Met251Thr) Parent #2 - pathogenic (recessive) g.56356502A>G g.58279141A>G - - MPO_000012 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat8 CG PubMed: Marchetti 2004, Journal: Marchetti 2020 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.752T>C r.752u>c p.Met251Thr Parent #1 - pathogenic (recessive) g.56356502A>G g.58279141A>G 929T>C - MPO_000012 - PubMed: Romano 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPOD FamPatDP PubMed: Romano 1997 2-generation family, affected father/daughter, unaffected mother M - Italy - - - - - 2 Johan den Dunnen
+/. - c.752T>C r.(?) p.(Met251Thr) Parent #1 - association g.56356502A>G - - - MPO_000012 associated with increased neutrophil accumulation PubMed: Vergnano 2020, Journal: Vergnano 2020 - - Germline - - - - - DNA arraySNP - - ? cases PubMed: Vergnano 2020, Journal: Vergnano 2020 assiciation analysis UK biobank - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.878C>G r.(?) p.(Pro293Arg) Unknown - VUS g.56356376G>C - MPO(NM_000250.2):c.878C>G (p.P293R) - MPO_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.995C>T r.(?) p.(Ala332Val) Paternal (confirmed) - pathogenic g.56355397G>A g.58278036G>A - - MPO_000007 - PubMed: Papuc 2019 - rs28730837 Germline - - - - - DNA SEQ-NG-I blood WES EE 73450 - mother German, father Swiss/Ghanaian M no Germany;Ghana;Switzerland - - - - - 1 Anaïs Begemann
+/. - c.995C>T r.(?) p.(Ala332Val) Parent #1 - pathogenic (recessive) g.56355397G>A g.58278036G>A - - MPO_000007 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat5 BN PubMed: Marchetti 2004, Journal: Marchetti 2020 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.995C>T r.(?) p.(Ala332Val) Parent #1 - pathogenic (recessive) g.56355397G>A g.58278036G>A - - MPO_000007 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat10 DD PubMed: Marchetti 2004, Journal: Marchetti 2020 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.995C>T r.(?) p.(Ala332Val) Parent #1 - association g.56355397G>A - - - MPO_000007 associated with increased neutrophil accumulation PubMed: Vergnano 2020, Journal: Vergnano 2020 - - Germline - - - - - DNA arraySNP - - ? cases PubMed: Vergnano 2020, Journal: Vergnano 2020 association analysis UK biobank - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1112A>G r.(?) p.(Asp371Gly) Parent #1 - pathogenic (recessive) g.56355280T>C g.58277919T>C - - MPO_000027 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat14 SI PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
?/. - c.1213C>A r.(?) p.(Arg405Ser) Unknown - VUS g.56353055G>T - MPO(NM_000250.2):c.1213C>A (p.R405S) - MPO_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1365+7C>T r.(=) p.(=) Unknown - likely benign g.56352896G>A g.58275535G>A MPO(NM_000250.1):c.1365+7C>T - MPO_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1495C>T r.1495c>u p.Arg499Cys Both (homozygous) - pathogenic (recessive) g.56350901G>A g.58273540G>A - - MPO_000026 - PubMed: Kameoka 2004, PubMed: Persad 2006 - - Germline - - - - - DNA RT-PCR, SEQ - - MPOD patient PubMed: Kameoka 2004, PubMed: Persad 2006 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.1501G>A r.1501g>a p.Gly501Ser Both (homozygous) - pathogenic (recessive) g.56350895C>T g.58277980T>C 1051A>G (G501S) - MPO_000025 father not tested PubMed: Ohashi 2004 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPOD patient PubMed: Ohashi 2004 2-generation family, 1 affected, unaffected parents M - Japan - - - - - 1 Johan den Dunnen
?/. - c.1547A>G r.(?) p.(Tyr516Cys) Unknown - VUS g.56350849T>C g.58273488T>C MPO(NM_000250.1):c.1547A>G (p.Y516C) - MPO_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1555_1568del r.(?) p.(Met519ProfsTer21) Unknown - pathogenic g.56350831_56350844del g.58273470_58273483del MPO(NM_000250.1):c.1555_1568delATGGAACCCAACCC (p.M519Pfs*21), MPO(NM_000250.2):c.1555_1568del (p.(Met519ProfsTer21)) - MPO_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1555_1568del r.(?) p.(Met519Profs*21) Both (homozygous) - likely pathogenic (recessive) g.56350831_56350844del g.58273470_58273483del 1552_1565del - MPO_000016 - PubMed: Vergnano 2020, Journal: Vergnano 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - PSORS SCAR2124 PubMed: Vergnano 2020, Journal: Vergnano 2020 2-generation family, 1 affected, unaffected parents F - Germany - - - - - 1 Johan den Dunnen
+/. - c.1555_1568del r.0 p.0 Parent #2 - pathogenic (recessive) g.56350831_56350844del g.58273470_58273483del 1729-1742del - MPO_000016 alle not expressed in RNA PubMed: Romano 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPOD FamPatDP PubMed: Romano 1997 2-generation family, affected father/daughter, unaffected mother M - Italy - - - - - 2 Johan den Dunnen
+/. - c.1555_1568del r.1545_1621del p.Tyr516Trpfs*3 Paternal (confirmed) - pathogenic g.56350831_56350844del g.58273470_58273483del DNA 1729-1742del, RNA 1722-1799del - MPO_000016 no variant 2nd allele identified PubMed: Romano 1997 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPOD FamPatMP PubMed: Romano 1997 daughter F - Italy - - - - - 1 Johan den Dunnen
+/. - c.1555_1568del r.(?) p.(Met519ProfsTer21) Unknown - pathogenic g.56350831_56350844del - MPO(NM_000250.1):c.1555_1568delATGGAACCCAACCC (p.M519Pfs*21), MPO(NM_000250.2):c.1555_1568del (p.(Met519ProfsTer21)) - MPO_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1566_1579del r.(1545_1621del) p.(Tyr516Trpfs*3) Parent #1 - pathogenic (recessive) g.56350817_56350830del g.58273456_58273469del 1566_1579del14 - MPO_000022 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat2 AA PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.1566_1579del r.(1545_1621del) p.(Tyr516Trpfs*3) Both (homozygous) - pathogenic (recessive) g.56350817_56350830del g.58273456_58273469del 1566_1579del14 - MPO_000022 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat4 BM PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.1566_1579del r.(1545_1621del) p.(Tyr516Trpfs*3) Parent #1 - pathogenic (recessive) g.56350817_56350830del g.58273456_58273469del 1566_1579del14 - MPO_000022 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat11 LG PubMed: Marchetti 2004, Journal: Marchetti 2020 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.1566_1579del r.(1545_1621del) p.(Tyr516Trpfs*3) Parent #1 - pathogenic (recessive) g.56350817_56350830del g.58273456_58273469del 1566_1579del14 - MPO_000022 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat15 VO PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.1566_1579del r.(1545_1621del) p.(Tyr516Trpfs*3) Parent #2 - pathogenic (recessive) g.56350817_56350830del g.58273456_58273469del 1566_1579del14 - MPO_000022 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat13 RM PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
?/. 9 c.1571G>A r.(?) p.(Arg524His) Unknown - VUS g.56350825C>T - - - MPO_000029 nlC1-INH-HAE association. Variant c.1571G>A has been found combined with other alleles, as follows BDKRB1, c.844C>T; CPN1, c.1219G>A;p.(Glu407Lys); SERPING1, c.*57C>G; PLAUR, c.2039T>C;p.(Met268Val); MASP1, c.2039T>C;p.(Val680Ala); TLR4, c.842G>A;p.(Cys281Tyr) Journal: Loules 2021 - - Germline yes - - - - DNA SEQ-NG-IT blood - HAE3 - Journal: Loules 2020 - F - Hungary - - - - - 2 Christian Drouet
+/. - c.1705C>T r.(?) p.(Arg569Trp) Unknown - pathogenic g.56350196G>A g.58272835G>A MPO(NM_000250.1):c.1705C>T (p.R569W), MPO(NM_000250.2):c.1705C>T (p.(Arg569Trp), p.R569W) - MPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1705C>T r.(?) p.(Arg569Trp) Unknown - pathogenic g.56350196G>A g.58272835G>A MPO(NM_000250.1):c.1705C>T (p.R569W), MPO(NM_000250.2):c.1705C>T (p.(Arg569Trp), p.R569W) - MPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1705C>T r.(?) p.(Arg569Trp) Unknown - pathogenic g.56350196G>A g.58272835G>A MPO(NM_000250.1):c.1705C>T (p.R569W), MPO(NM_000250.2):c.1705C>T (p.(Arg569Trp), p.R569W) - MPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1705C>T r.(?) p.(Arg569Trp) Parent #1 - pathogenic g.56350196G>A g.58272835G>A - - MPO_000005 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs119468010 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
+?/. - c.1705C>T r.(?) p.(Arg569Trp) Parent #2 - likely pathogenic (recessive) g.56350196G>A g.58272835G>A - - MPO_000005 - PubMed: Vergnano 2020, Journal: Vergnano 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - PSORS SCAR2567 PubMed: Vergnano 2020, Journal: Vergnano 2020 2-generation family, 1 affected, unaffected parents F - Germany - - - - - 1 Johan den Dunnen
+/. - c.1705C>T r.(?) p.(Arg569Trp) Parent #1 - pathogenic (recessive) g.56350196G>A g.58272835G>A - - MPO_000005 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat8 CG PubMed: Marchetti 2004, Journal: Marchetti 2020 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.1705C>T r.(?) p.(Arg569Trp) Parent #2 - pathogenic (recessive) g.56350196G>A g.58272835G>A - - MPO_000005 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat2 AA PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.1705C>T r.(?) p.(Arg569Trp) Both (homozygous) - pathogenic (recessive) g.56350196G>A g.58272835G>A 8089C>T - MPO_000005 - PubMed: Nauseef 1994 - - Germline - - BglII- - - DNA SEQ - - MPOD PatLH PubMed: Nauseef 1994 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1705C>T r.(?) p.(Arg569Trp) Both (homozygous) - pathogenic (recessive) g.56350196G>A g.58272835G>A CGG569TGG - MPO_000005 - PubMed: Kizaki 1994 - - Germline - - - - - DNA SEQ - - MPOD PatSQ PubMed: Kizaki 1994 - F - United States Hispanic - - - - 1 Johan den Dunnen
+/. - c.1705C>T r.(?) p.(Arg569Trp) Parent #1 - association g.56350196G>A g.58272835G>A - - MPO_000005 associated with increased neutrophil accumulation PubMed: Vergnano 2020, Journal: Vergnano 2020 - - Germline - - - - - DNA arraySNP - - ? cases PubMed: Vergnano 2020, Journal: Vergnano 2020 association analysis UK-biobank - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1705C>T r.(?) p.(Arg569Trp) Unknown - pathogenic g.56350196G>A - MPO(NM_000250.1):c.1705C>T (p.R569W), MPO(NM_000250.2):c.1705C>T (p.(Arg569Trp), p.R569W) - MPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1712G>A r.(?) p.(Arg571Gln) Unknown - VUS g.56350189C>T g.58272828C>T MPO(NM_000250.1):c.1712G>A (p.R571Q) - MPO_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1715T>G r.(?) p.(Leu572Trp) Parent #2 - pathogenic (recessive) g.56350186A>C g.58272825A>C - - MPO_000021 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat10 DD PubMed: Marchetti 2004, Journal: Marchetti 2020 - M - Italy - - - - - 1 Johan den Dunnen
-/. - c.1839T>C r.(?) p.(Thr613=) Unknown - benign g.56349207A>G g.58271846A>G MPO(NM_000250.1):c.1839T>C (p.T613=) - MPO_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1927T>C r.(?) p.(Trp643Arg) Parent #2 - pathogenic (recessive) g.56349119A>G g.58271758A>G - - MPO_000023 - PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat15 VO PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
-/. - c.2031-6A>C r.(=) p.(=) Unknown - benign g.56348230T>G g.58270869T>G - - MPO_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2031-2A>C r.spl? p.? Unknown - pathogenic g.56348226T>G g.58270865T>G MPO(NM_000250.1):c.2031-2A>C, MPO(NM_000250.2):c.2031-2A>C - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2031-2A>C r.spl? p.? Unknown - pathogenic g.56348226T>G g.58270865T>G MPO(NM_000250.1):c.2031-2A>C, MPO(NM_000250.2):c.2031-2A>C - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2031-2A>C r.spl? p.? Unknown - likely pathogenic g.56348226T>G g.58270865T>G MPO(NM_000250.1):c.2031-2A>C, MPO(NM_000250.2):c.2031-2A>C - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2031-2A>C r.2030_2031ins[2031-109_2031-2;c] p.R677Wfs*73 Unknown - VUS g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Lhota 2016 - rs35897051 Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
./. - c.2031-2A>C r.2030_2031ins[2031-109_2031-2;c] p.R677Wfs*73 Unknown - VUS g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Lhota 2016 - rs35897051 Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
./. - c.2031-2A>C r.2030_2031ins[2031-109_2031-2;c] p.R677Wfs*73 Unknown - VUS g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Lhota 2016 - rs35897051 Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
+/. - c.2031-2A>C r.spl p.? Parent #1 - pathogenic g.56348226T>G g.58270865T>G - - MPO_000004 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35897051 Germline - 3/2730 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+?/. - c.2031-2A>C r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Vergnano 2020, Journal: Vergnano 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES PSORS GYFAP0014 PubMed: Vergnano 2020, Journal: Vergnano 2020 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) Europe - - - - 1 Johan den Dunnen
+?/. - c.2031-2A>C r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Vergnano 2020, Journal: Vergnano 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - PSORS DDPLM0001 PubMed: Vergnano 2020, Journal: Vergnano 2020 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) Europe - - - - 1 Johan den Dunnen
+?/. - c.2031-2A>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Vergnano 2020, Journal: Vergnano 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - PSORS SCAR2567 PubMed: Vergnano 2020, Journal: Vergnano 2020 2-generation family, 1 affected, unaffected parents F - Germany - - - - - 1 Johan den Dunnen
+/. - c.2031-2A>C r.(2030_2031ins[2031-109_2031-2;c]) p.(Phe678fs) Both (homozygous) - pathogenic (recessive) g.56348226T>G g.58270865T>G - - MPO_000004 minigene splicing assay PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat1 AP PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.2031-2A>C r.(2030_2031ins[2031-109_2031-2;c]) p.(Phe678fs) Both (homozygous) - pathogenic (recessive) g.56348226T>G g.58270865T>G - - MPO_000004 minigene splicing assay PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat7 CM PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.2031-2A>C r.(2030_2031ins[2031-109_2031-2;c]) p.(Phe678fs) Parent #1 - pathogenic (recessive) g.56348226T>G g.58270865T>G - - MPO_000004 minigene splicing assay PubMed: Marchetti 2004, Journal: Marchetti 2020 - - Germline - - - - - DNA SEQ - - MPOD Pat13 RM PubMed: Marchetti 2004, Journal: Marchetti 2020 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.2031-2A>C r.spl p.? Unknown - association g.56348226T>G g.58270865T>G - - MPO_000004 {PMID:Vergnano 2020:32758448}, {DOI:Vergnano 2020:10.1016/j.ajhg.2020.06.020} significant association with neutrophil abundance - - Germline - - - - - DNA arraySNP - - ? cases PubMed: Vergnano 2020, Journal: Vergnano 2020 association analysis UK-biobank - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2031-2A>C r.spl? p.? Unknown - pathogenic g.56348226T>G - MPO(NM_000250.1):c.2031-2A>C, MPO(NM_000250.2):c.2031-2A>C - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2133C>T r.(?) p.(Thr711=) Unknown - benign g.56348122G>A g.58270761G>A MPO(NM_000250.1):c.2133C>T (p.T711=) - MPO_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2149A>G r.(?) p.(Ile717Val) Unknown - benign g.56348106T>C g.58270745T>C MPO(NM_000250.1):c.2149A>G (p.I717V) - MPO_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2174G>A r.(?) p.(Arg725Gln) Unknown - likely benign g.56348081C>T g.58270720C>T MPO(NM_000250.1):c.2174G>A (p.R725Q) - MPO_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2216C>A r.(?) p.(Ala739Asp) Unknown - likely benign g.56348039G>T g.58270678G>T MPO(NM_000250.1):c.2216C>A (p.A739D) - MPO_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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