Full data view for gene HPDL

Information The variants shown are described using the NM_032756.2 transcript reference sequence.

276 entries on 3 pages. Showing entries 1 - 100.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.131A>T r.(?) p.(Gln44Leu) Maternal (confirmed) - pathogenic (recessive) g.45792951A>T g.45327279A>T - - HPDL_000023 - - - - Germline yes - - - - DNA SEQ, SEQ-NG blood WES ? B.II-2 - - M no China chinese - - yes - 1 Wenjuan Qiu
+/. - c.149G>A r.(?) p.(Gly50Asp) Both (homozygous) - pathogenic (recessive) g.45792969G>A g.45327297G>A - - HPDL_000025 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam11PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous parents F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.149G>A r.(?) p.(Gly50Asp) Both (homozygous) - pathogenic (recessive) g.45792969G>A g.45327297G>A - - HPDL_000025 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam12PatII3 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 2 affected brothers, unaffected heterozygous parents M yes Syria - - - - - 1 Johan den Dunnen
+/. - c.149G>A r.(?) p.(Gly50Asp) Both (homozygous) - pathogenic (recessive) g.45792969G>A g.45327297G>A - SCV001134979.1 HPDL_000025 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam13PatII1 PubMed: Husain 2020, Journal: Husain 2020 brother M - Turkey - - - - - 2 Johan den Dunnen
+/. - c.149G>A r.(?) p.(Gly50Asp) Both (homozygous) - pathogenic (recessive) g.45792969G>A g.45327297G>A - SCV000589765.2 HPDL_000025 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam13PatII2 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected parents M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.149G>A r.(?) p.(Gly50Asp) Both (homozygous) - pathogenic g.45792969G>A - - - HPDL_000025 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.149G>A r.(?) p.(Gly50Asp) Both (homozygous) - pathogenic g.45792969G>A - - - HPDL_000025 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. 1 c.149G>A r.(?) p.(Gly50Asp) Both (homozygous) - pathogenic (recessive) g.45792969G>A - - - HPDL_000025 - - - - Germline yes - - - - DNA SEQ blood - SPG83 - - - M yes Egypt - - - - - 3 Sherifa Ahmed Hamed
+/. 1 c.149G>A r.(?) p.(Gly50Asp) Both (homozygous) - pathogenic (recessive) g.45792969G>A - - - HPDL_000025 - - - - Germline yes - - - - DNA SEQ blood - SPG83 - - - F yes Egypt - - - - - 2 Sherifa Ahmed Hamed
+/. 1 c.215_226delinsTGTACGGCCTGGAT r.(?) p.(Arg72Leufs*60) Maternal (confirmed) - pathogenic (recessive) g.45793035_45793046delinsTGTACGGCCTGGAT g.45327363_45327374delinsTGTACGGCCTGGAT - - HPDL_000021 - - - - Germline yes - - - - DNA SEQ, SEQ-NG blood WGS ? A.II-1 family, 2 affected - M no China chinese 08y - yes - 2 Wenjuan Qiu
+/. 1 c.215_226delinsTGTACGGCCTGGAT r.(?) p.(Arg72Leufs*60) Maternal (confirmed) - pathogenic (recessive) g.45793035_45793046delinsTGTACGGCCTGGAT g.45327363_45327374delinsTGTACGGCCTGGAT - - HPDL_000021 - - - - Germline yes - - - - DNA SEQ, SEQ-NG blood WGS ? A.II-2 brother - M no China chinese - - yes - 1 Wenjuan Qiu
+/. 1 c.215_226delinsTGTACGGCCTGGAT r.(?) p.(Arg72Leufs*60) Maternal (confirmed) ACMG pathogenic (recessive) g.45793035_45793046delinsTGTACGGCCTGGAT g.45327363_45327374delinsTGTACGGCCTGGAT - - HPDL_000039 - - - - Germline yes - - - - DNA SEQ-NG blood WGS NEDSWMA;CPSQ1 iw028 - - M no China Chinese - - - - 2 Wenjuan Qiu
+/. 1 c.215_226delinsTGTACGGCCTGGAT r.(?) p.(Arg72Leufs*60) Maternal (confirmed) ACMG pathogenic (recessive) g.45793035_45793046delinsTGTACGGCCTGGAT g.45327363_45327374delinsTGTACGGCCTGGAT - - HPDL_000021 - - - - Germline yes - - - - DNA SEQ-NG blood WGS NEDSWMA;CPSQ1 iw031 - - M no China chinese - - - - 2 Wenjuan Qiu
+/. - c.280del r.(?) p.(Glu94Serfs*37) Parent #1 - pathogenic (recessive) g.45793100del g.45327428del - - HPDL_000026 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam10PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.342_343insTGCC r.(?) p.(Ala115Cysfs*82) Both (homozygous) - pathogenic (recessive) g.45793162_45793163insTGCC g.45327490_45327491insTGCC - - HPDL_000027 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam1PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 2 affected brother/sister, unaffected heterozygous parents M - Algeria - - - - - 2 Johan den Dunnen
+/. - c.342_343insTGCC r.(?) p.(Ala115Cysfs*82) Both (homozygous) - pathogenic (recessive) g.45793162_45793163insTGCC g.45327490_45327491insTGCC - - HPDL_000027 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam1PatII2 PubMed: Husain 2020, Journal: Husain 2020 sister F - Algeria - - - - - 1 Johan den Dunnen
+/. - c.469T>C r.spl p.(Trp157Arg) Maternal (confirmed) - pathogenic (recessive) g.45793289T>C g.45327617T>C - - HPDL_000028 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam8PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous parents M - Germany - - - - - 1 Johan den Dunnen
+/. - c.469T>C r.(?) p.(Trp157Arg) Unknown - pathogenic g.45793289T>C - - - HPDL_000028 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.503G>A r.(?) p.(Cys168Tyr) Maternal (confirmed) - pathogenic (recessive) g.45793323G>A g.45327651G>A - - HPDL_000029 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam6PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 2 affected brothers, unaffected heterozygous parents M - Germany - - - - - 2 Johan den Dunnen
+/. - c.503G>A r.(?) p.(Cys168Tyr) Maternal (confirmed) - pathogenic (recessive) g.45793323G>A g.45327651G>A - - HPDL_000029 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam6PatII3 PubMed: Husain 2020, Journal: Husain 2020 brother M - Germany - - - - - 1 Johan den Dunnen
+/. - c.503G>A r.(?) p.(Cys168Tyr) Unknown - pathogenic g.45793323G>A - - - HPDL_000029 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.527T>C r.(?) p.(Leu176Pro) Both (homozygous) - pathogenic (recessive) g.45793347T>C g.45327675T>C - - HPDL_000049 - PubMed: Morgan 2021, PubMed: Lynex 2004 - rs773333490 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV1 PubMed: Morgan 2021, PubMed: Lynex 2004 5-generation family, 7 affected (3F, 4M), unaffected heterozygous parents/relatives F yes United Kingdom (Great Britain) Pakistan - - - - 7 Johan den Dunnen
+/. - c.527T>C r.(?) p.(Leu176Pro) Both (homozygous) - pathogenic (recessive) g.45793347T>C g.45327675T>C - - HPDL_000049 - PubMed: Morgan 2021, PubMed: Lynex 2004 - rs773333490 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV2 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.527T>C r.(?) p.(Leu176Pro) Both (homozygous) - pathogenic (recessive) g.45793347T>C g.45327675T>C - - HPDL_000049 - PubMed: Morgan 2021, PubMed: Lynex 2004 - rs773333490 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV5 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.527T>C r.(?) p.(Leu176Pro) Both (homozygous) - pathogenic (recessive) g.45793347T>C g.45327675T>C - - HPDL_000049 - PubMed: Morgan 2021, PubMed: Lynex 2004 - rs773333490 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV7 PubMed: Morgan 2021, PubMed: Lynex 2004 sister F yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.527T>C r.(?) p.(Leu176Pro) Both (homozygous) - pathogenic (recessive) g.45793347T>C g.45327675T>C - - HPDL_000049 - PubMed: Morgan 2021, PubMed: Lynex 2004 - rs773333490 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV8 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.527T>C r.(?) p.(Leu176Pro) Both (homozygous) - pathogenic (recessive) g.45793347T>C g.45327675T>C - - HPDL_000049 - PubMed: Morgan 2021 - rs773333490 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPatV10 PubMed: Morgan 2021 nephew M yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.527T>C r.(?) p.(Leu176Pro) Both (homozygous) - pathogenic (recessive) g.45793347T>C g.45327675T>C - - HPDL_000049 - PubMed: Morgan 2021 - rs773333490 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPatV11 PubMed: Morgan 2021 niece F yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.537G>C r.(?) p.(Trp179Cys) Paternal (confirmed) - pathogenic (recessive) g.45793357G>C g.45327685G>C - - HPDL_000014 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam6PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 2 affected brothers, unaffected heterozygous parents M - Germany - - - - - 2 Johan den Dunnen
+/. - c.537G>C r.(?) p.(Trp179Cys) Paternal (confirmed) - pathogenic (recessive) g.45793357G>C g.45327685G>C - - HPDL_000014 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam6PatII3 PubMed: Husain 2020, Journal: Husain 2020 brother M - Germany - - - - - 1 Johan den Dunnen
+/. - c.537G>C r.(?) p.(Trp179Cys) Unknown - pathogenic g.45793357G>C - - - HPDL_000014 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. 1 c.596_599delinsCAGGTCAGGAT r.(?) p.(Leu199Profs*36) Paternal (confirmed) - pathogenic (recessive) g.45793416_45793419delinsCAGGTCAGGAT g.45327744_45327747delinsCAGGTCAGGAT - - HPDL_000022 - - - - Germline yes - - - - DNA SEQ, SEQ-NG blood WGS ? A.II-1 family, 2 affected - M no China chinese 08y - yes - 2 Wenjuan Qiu
+/. 1 c.596_599delinsCAGGTCAGGAT r.(?) p.(Leu199Profs*36) Paternal (confirmed) - pathogenic (recessive) g.45793416_45793419delinsCAGGTCAGGAT g.45327744_45327747delinsCAGGTCAGGAT - - HPDL_000022 - - - - Germline yes - - - - DNA SEQ, SEQ-NG blood WGS ? A.II-2 brother - M no China chinese - - yes - 1 Wenjuan Qiu
+/. 1 c.596_599delinsCAGGTGAGGAT r.(?) p.(Leu199Profs*36) Paternal (confirmed) ACMG pathogenic (recessive) g.45793416_45793419delinsCAGGTGAGGAT g.45327744_45327747delinsCAGGTGAGGAT - - HPDL_000040 - - - - Germline yes - - - - DNA SEQ-NG blood WGS NEDSWMA;CPSQ1 iw028 - - M no China Chinese - - - - 2 Wenjuan Qiu
+/. 1 c.596_599delinsCAGGTGAGGAT r.(?) p.(Leu199Profs*36) Paternal (confirmed) ACMG pathogenic (recessive) g.45793416_45793419delinsCAGGTGAGGAT g.45327744_45327747delinsCAGGTGAGGAT - - HPDL_000040 - - - - Germline yes - - - - DNA SEQ-NG blood WGS NEDSWMA;CPSQ1 iw031 - - M no China chinese - - - - 2 Wenjuan Qiu
+/. - c.599del r.(?) p.(Gly200Alafs*4) Both (homozygous) ACMG pathogenic g.45793419del g.45327747del - - HPDL_000041 - - - - Germline - - - - - DNA SEQ-NG - - NEDSWMA;CPSQ1 - - - M no (Latvia) - - - - - 2 Baiba Lace
+/. - c.650T>C r.(?) p.(Leu217Pro) Parent #1 - pathogenic (recessive) g.45793470T>C g.45327798T>C - - HPDL_000020 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5PatII2 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous parents M - Canada - - - - - 1 Johan den Dunnen
+/. 1 c.650T>C r.(?) p.(Leu217Pro) Both (homozygous) - pathogenic (recessive) g.45793470T>C g.45327798T>C - - HPDL_000020 - - - - Germline yes - - - - DNA SEQ, SEQ-NG blood WES ? C.II-1 - - M no China chinese - - yes - 1 Wenjuan Qiu
+?/. - c.651del r.(?) p.(Gln218Argfs*97) Unknown ACMG likely pathogenic (recessive) g.45793471del g.45327799del - - HPDL_000046 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I - - NEDSWMA;CPSQ1 273560 - - F no Germany - - - - - 1 Andreas Laner
?/. - c.654_655insAAT r.(?) p.(Gln218_Ala219insAsn) Unknown ACMG VUS g.45793474_45793475insAAT g.45327802_45327803insAAT - - HPDL_000047 ACMG: PM3, PM2_SUP, PM4_SUP - - - Germline ? - - - - DNA SEQ-NG-I - - NEDSWMA;CPSQ1 273560 - - F no Germany - - - - - 1 Andreas Laner
+/. - c.698_699insTGGGCCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTC r.(?) p.(Leu234Glyfs*94) Both (homozygous) - pathogenic (recessive) g.45793518_45793519insTGGGCCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTC g.45327846_45327847insTGGGCCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTC - - HPDL_000030 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam9PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous parents F - Germany - - - - - 1 Johan den Dunnen
+/. - c.698_699insTGGGCCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTC r.(?) p.(Leu234GlyfsTer94) Both (homozygous) - pathogenic g.45793485_45793486insCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCTGGGC - - - HPDL_000030 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.701T>C r.(?) p.(Leu234Pro) Maternal (confirmed) - pathogenic (recessive) g.45793521T>C g.45327849T>C - - HPDL_000031 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam7PatII2 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous mother, non-carrier father M - Germany - - - - - 1 Johan den Dunnen
+/. 1 c.721C>T r.(?) p.(Gln241*) Maternal (confirmed) - pathogenic (recessive) g.45793541C>T g.45327869C>T - - HPDL_000018 - - - - Germline yes - - - - DNA SEQ, SEQ-NG blood WES ? D.II-2 family, 2 affected - F no China chinese - - yes - 2 Wenjuan Qiu
+/. 1 c.721C>T r.(?) p.(Gln241*) Maternal (confirmed) - pathogenic (recessive) g.45793541C>T g.45327869C>T - - HPDL_000018 - - - - Germline yes - - - - DNA SEQ, SEQ-NG blood WES ? D.II-3 brother - M no China chinese - - yes - 1 Wenjuan Qiu
+/. - c.721C>T r.(?) p.(Gln241*) Both (homozygous) - pathogenic (recessive) g.45793541C>T g.45327869C>T - - HPDL_000018 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3PatII3 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous parents M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.743T>C r.(?) p.(Leu248Pro) Paternal (inferred) - pathogenic (recessive) g.45793563T>C g.45327891T>C - - HPDL_000015 - PubMed: Husain 2020, Journal: Husain 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam7PatII2 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous mother, non-carrier father M - Germany - - - - - 1 Johan den Dunnen
+/. - c.753C>A r.(?) p.(His251Gln) Paternal (confirmed) - pathogenic (recessive) g.45793573C>A g.45327901C>A - - HPDL_000016 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam8PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous parents M - Germany - - - - - 1 Johan den Dunnen
+/. - c.753C>A r.(?) p.(His251Gln) Unknown - pathogenic g.45793573C>A - - - HPDL_000016 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.779G>A r.(?) p.(Gly260Glu) Both (homozygous) - pathogenic (recessive) g.45793599G>A g.45327927G>A - - HPDL_000032 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam2PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 2 affected brothers, unaffected heterozygous parents M yes Iran - - - - - 2 Johan den Dunnen
+/. - c.779G>A r.(?) p.(Gly260Glu) Both (homozygous) - pathogenic (recessive) g.45793599G>A g.45327927G>A - - HPDL_000032 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam2PatII3 PubMed: Husain 2020, Journal: Husain 2020 brother M yes Iran - - - - - 1 Johan den Dunnen
+/. 1 c.781C>G r.(?) p.(Leu261Val) Paternal (confirmed) - pathogenic (recessive) g.45793601C>G g.45327929C>G - - HPDL_000019 - - - - Germline yes - - - - DNA SEQ, SEQ-NG blood WES ? D.II-2 family, 2 affected - F no China chinese - - yes - 2 Wenjuan Qiu
+/. 1 c.781C>G r.(?) p.(Leu261Val) Paternal (confirmed) - pathogenic (recessive) g.45793601C>G g.45327929C>G - - HPDL_000019 - - - - Germline yes - - - - DNA SEQ, SEQ-NG blood WES ? D.II-3 brother - M no China chinese - - yes - 1 Wenjuan Qiu
+/. - c.797T>C r.(?) p.(Ile266Thr) Parent #2 - pathogenic (recessive) g.45793617T>C g.45327945T>C - - HPDL_000013 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5PatII2 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous parents M - Canada - - - - - 1 Johan den Dunnen
+/. - c.859T>C r.(?) p.(Tyr287His) Parent #2 - pathogenic (recessive) g.45793679T>C g.45328007T>C - - HPDL_000017 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam10PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
?/. - c.875G>A r.(?) p.(Gly292Glu) Unknown - VUS g.45793695G>A - HPDL(NM_032756.4):c.875G>A (p.(Gly292Glu)) - HPDL_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.892C>T r.(?) p.(Arg298*) Unknown - VUS g.45793712C>T - HPDL(NM_032756.4):c.892C>T (p.(Arg298*)) - HPDL_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1013T>C r.(?) p.(Leu338Pro) Both (homozygous) ACMG likely pathogenic (recessive) g.45793833T>C - - - HPDL_000042 - - - rs145372387 Germline yes 0.0000667 - - - DNA SEQ-NG-I - - SPG - - - M ? Canada - - - - - 1 Baiba Lace
+/. - c.1024C>T r.(?) p.(Gln342*) Both (homozygous) - pathogenic (recessive) g.45793844C>T g.45328172C>T - - HPDL_000033 - PubMed: Husain 2020, Journal: Husain 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4PatII1 PubMed: Husain 2020, Journal: Husain 2020 2-generation family, 1 affected, unaffected heterozygous parents M yes Syria - - - - - 1 Johan den Dunnen
+/. - c.1024C>T r.(?) p.(Gln342Ter) Both (homozygous) - pathogenic g.45793844C>T - - - HPDL_000033 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. 1 c.1067_1071del r.(?) p.(Ala356Valfs*45) Paternal (confirmed) - pathogenic (recessive) g.45793887_45793891del g.45328215_45328219del - - HPDL_000024 - - - - Germline yes - - - - DNA SEQ, SEQ-NG blood WES ? B.II-2 - - M no China chinese - - yes - 1 Wenjuan Qiu
-/. - c.*1091C>T r.(=) p.(=) Unknown - benign g.45795027C>T g.45329355C>T MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q) - MUTYH_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1091C>T r.(=) p.(=) Unknown - benign g.45795027C>T g.45329355C>T MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q) - MUTYH_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1091C>T r.(=) p.(=) Unknown - likely benign g.45795027C>T - MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q) - MUTYH_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1091C>T r.(=) p.(=) Unknown - benign g.45795027C>T - MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q) - MUTYH_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1092G>A r.(=) p.(=) Unknown - likely benign g.45795028G>A g.45329356G>A MUTYH(NM_001128425.2):c.1600C>T (p.R534W) - MUTYH_000335 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1107G>T r.(=) p.(=) Unknown - likely benign g.45795043G>T - MUTYH(NM_001048171.1):c.1543C>A (p.(Leu515Met)) - MUTYH_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1107G>T r.(=) p.(=) Unknown - likely benign g.45795043G>T - MUTYH(NM_001048171.1):c.1543C>A (p.(Leu515Met)) - MUTYH_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1124C>T r.(=) p.(=) Unknown - likely benign g.45795060C>T - - - MUTYH_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1125G>A r.(=) p.(=) Unknown - likely benign g.45795061G>A g.45329389G>A - - MUTYH_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1145G>T r.(=) p.(=) Unknown - likely benign g.45795081G>T g.45329409G>T MUTYH(NM_001128425.2):c.1547C>A (p.P516Q) - HPDL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1148G>A r.(=) p.(=) Unknown - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1148G>A r.(=) p.(=) Unknown - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1148G>A r.(=) p.(=) Unknown - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1148G>A r.(=) p.(=) Unknown - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1148G>A r.(=) p.(=) Unknown - benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1148G>A r.(=) p.(=) Unknown - likely benign g.45795084G>A g.45329412G>A MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F) - MUTYH_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1155C>A r.(=) p.(=) Unknown - likely benign g.45795091C>A g.45329419C>A MUTYH(NM_001128425.2):c.1537G>T (p.V513L) - MUTYH_000336 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2279A>G r.(=) p.(=) Unknown - likely benign g.45796215A>G g.45330543A>G MUTYH(NM_001128425.1):c.1491T>C (p.Y497=) - MUTYH_000337 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2305G>T r.(=) p.(=) Unknown - likely benign g.45796241G>T - - - HPDL_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2333G>C r.(=) p.(=) Unknown - benign g.45796269G>C g.45330597G>C MUTYH(NM_001128425.1):c.1477-40C>G - MUTYH_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2916G>A r.(=) p.(=) Unknown - VUS g.45796852G>A - MUTYH(NM_001128425.2):c.1476+2C>T - MUTYH_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2929C>T r.(=) p.(=) Unknown - VUS g.45796865C>T g.45331193C>T MUTYH(NM_001048171.1):c.1423G>A (p.(Ala475Thr)) - MUTYH_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2945G>A r.(=) p.(=) Unknown - benign g.45796881G>A g.45331209G>A MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=) - MUTYH_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2945G>A r.(=) p.(=) Unknown - benign g.45796881G>A - MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=) - MUTYH_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2945G>A r.(=) p.(=) Unknown - benign g.45796881G>A - MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=) - MUTYH_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2945G>A r.(=) p.(=) Unknown - likely benign g.45796881G>A - MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=) - MUTYH_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2947T>G r.(=) p.(=) Unknown - benign g.45796883T>G g.45331211T>G MUTYH(NM_001128425.2):c.1447A>C (p.T483P) - MUTYH_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2947T>G r.(=) p.(=) Unknown - likely benign g.45796883T>G g.45331211T>G MUTYH(NM_001128425.2):c.1447A>C (p.T483P) - MUTYH_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2959C>A r.(=) p.(=) Unknown - pathogenic g.45796895C>A - MUTYH(NM_001128425.2):c.1435G>T (p.E479*) - MUTYH_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2959_*2961del r.(=) p.(=) Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del) - MUTYH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2959_*2961del r.(=) p.(=) Unknown - pathogenic g.45796895_45796897del g.45331223_45331225del MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del) - MUTYH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2959_*2961del r.(=) p.(=) Unknown - pathogenic g.45796895_45796897del - MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del) - MUTYH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2959_*2961del r.(=) p.(=) Unknown - pathogenic g.45796895_45796897del - MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del) - MUTYH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2959_*2961del r.(=) p.(=) Unknown - pathogenic g.45796895_45796897del - MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del) - MUTYH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2963C>G r.(=) p.(=) Unknown - likely benign g.45796899C>G g.45331227C>G MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2963C>G r.(=) p.(=) Unknown - benign g.45796899C>G g.45331227C>G MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2963C>G r.(=) p.(=) Unknown - benign g.45796899C>G g.45331227C>G MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2963C>G r.(=) p.(=) Unknown - likely benign g.45796899C>G g.45331227C>G MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2963C>G r.(=) p.(=) Unknown - likely benign g.45796899C>G - MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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