Full data view for gene PKD1

Information The variants shown are described using the NM_001009944.2 transcript reference sequence.

6177 entries on 62 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict-BioInf     

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_39i c.-209_(11269+1_11270-1){0} r.0? p.0? - Parent #1 - pathogenic (dominant) g.(2142190_2142480)_(2185899_?)del g.(2092189_2092479)_(2135898_?)del del ex1-39 - PKD1_001436 - PubMed: Audrezet 2012 - - Germline yes - - - - DNA SEQ - - PKD 10111 PubMed: Audrezet 2012 family, 4 affected - - France - - - - - 4 Johan den Dunnen
+/. _1_1i c.-209_(215+1_216-1){0} r.0? p.0? - Parent #1 - pathogenic (dominant) g.(2169380_2185475)_(2185899_?)del g.(2119379_2135474)_(2135898_?)del del ex1 - PKD1_000929 - PubMed: Audrezet 2012 - - Germline - - - - - DNA SEQ - - PKD 10266 PubMed: Audrezet 2012 patient, family history - - France - - - - - 1 Johan den Dunnen
+/. _1_1i c.-209_(215+1_216-1){0} r.0? p.0? - Parent #1 - pathogenic (dominant) g.(2169380_2185475)_(2185899_?)del g.(2119379_2135474)_(2135898_?)del del ex1 - PKD1_000929 - PubMed: Audrezet 2012 - - Germline yes - - - - DNA SEQ - - PKD 10350 PubMed: Audrezet 2012 family, 3 affected - - France - - - - - 3 Johan den Dunnen
-?/. 1 c.-117G>T r.(?) p.(=) - Unknown - likely benign g.2185807C>A g.2135806C>A - - PKD1_002849 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.-108C>T r.(?) p.(=) - Unknown - likely benign g.2185798G>A g.2135797G>A - - PKD1_002848 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.-76G>C r.(?) p.(=) - Unknown - likely benign g.2185766C>G g.2135765C>G - - PKD1_002847 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.-75_-69dup r.? p.? - Unknown - pathogenic (dominant) g.2185761_2185767dup g.2135760_2135766dup -70_-69dupGGGCCCC - PKD1_002940 - PubMed: Fujimaru 2018 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ, SEQ-NG - - PKD Pat833 PubMed: Fujimaru 2018 - M - Japan - - - - - 1 Johan den Dunnen
-?/. 1 c.-67C>T r.(?) p.(=) - Unknown - likely benign g.2185757G>A g.2135756G>A - - PKD1_002846 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.-61T>C r.(?) p.(=) - Unknown - likely benign g.2185751A>G g.2135750A>G - - PKD1_002845 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.-52C>T r.(?) p.(=) - Unknown - likely benign g.2185742G>A g.2135741G>A - - PKD1_002844 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.-2C>T r.(?) p.(Met1dup) - Unknown - likely benign g.2185692G>A g.2135691G>A - - PKD1_002843 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_1i c.(?_-1)_(215+1_216-1)del r.0? p.0? - Unknown - pathogenic (dominant) g.(2169380_2185475)_(2185899_?)del g.(2119379_2135474)_(2135898_?)del IVS1del 2.5kb - PKD1_000929 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_1i c.(?_-1)_(215+1_216-1)del r.0? p.0? - Unknown - pathogenic (dominant) g.(2169380_2185475)_(2185899_?)del g.(2119379_2135474)_(2135898_?)del EX1del - PKD1_000929 definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1_15i c.(?_-1)_(6915+1_6916-1)del r.0? p.0? - Unknown - pathogenic (dominant) g.(2158034_2158252)_(2185691_?)del g.(2108033_2108251)_(2135690_?)del 1_6915del 150kb - PKD1_000939 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1_21i c.(?_-1)_(8016+1_8017-1)del r.0? p.0? - Unknown - pathogenic (dominant) g.(2154644_2155322)_(2185691_?)del g.(2104643_2105321)_(2135690_?)del 1_8015del 65kb - PKD1_000938 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_39i c.-209_(11269+1_11270-1){0} r.0? p.0? - Unknown - pathogenic (dominant) g.(2142190_2142480)_(2185899del_?)del)del g.(2092189_2092479)_(2135898_?)del EX1-EX39del - PKD1_001436 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3887_*1017{0} r.? p.? - Unknown - pathogenic (dominant) g.2106894_2161281del - 16p13.3 (2,106,894-2,161,281) x1/54kb interstital deletion - TSC2_001558 TSC2 exons 9-42 + PKD1 exons 15-46 deleted; TSC2/PKD1 contiguous gene deletion; breakpoints determined; 54,388bp genomic deletion starts in TSC2 intron 8 (NM_000548.3:c.774+125) and ends in PKD1 exon 15 (NM_000296.3:c.3887) Unpublished - - Germline - - - - - DNA arraySNP Blood whole genome SNP Microarray (Reveal®) used TSC - Unpublished patient with TSC and ADPKD; no family history of TSC F ? - - - - - - 1 Rosemary Ekong
+/. - c.3887_*1017{0} r.? p.? - Unknown - pathogenic (dominant) g.2106894_2161281del g.2056893_2088712{0} - - TSC2_001558 deletion includes TSC2 exons 9-42 and PKD1 exons 15-46 (PKD1 variant = c.3887_*1017{0}); 54,388bp genomic deletion with breakpoints determined; starts in TSC2 intron 8 (NM_000548.3:c.774+125) and ends in PKD1 exon 15 (NM_000296.3:c.3887) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 27i_32i c.? r.? p.? - Unknown - likely pathogenic (dominant) g.? - gene conversion ex28-32 - PKD1_000000 highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.8C>G r.(?) p.(Pro3Arg) - Unknown - VUS g.2185683G>C g.2135682G>C - - PKD1_002842 indeterminate in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.13_25del r.(?) p.(Ala5Trpfs*64) - Parent #1 - pathogenic g.2185675_2185687del g.2135674_2135686del - - PKD1_000148 - PubMed: Rossetti 2001 - - Germline ? - - - - DNA SEQ - - - - - - - - - - - - - - - -
+/. 1 c.13_25del r.(?) p.(Ala5Trpfs*64) - Unknown - pathogenic (dominant) g.2185675_2185687del g.2135674_2135686del 13_25del13 - PKD1_000148 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.24_27del r.(?) p.(Leu9Argfs*63) - Unknown - pathogenic (dominant) g.2185665_2185668del g.2135664_2135667del 24_27del4 - PKD1_000532 definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.29_46del r.(?) p.(Ala10_Leu15del) - Unknown - pathogenic (dominant) g.2185651_2185668del g.2135650_2135667del A10_L15del6 - PKD1_000416 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.38T>A r.(?) p.(Leu13Gln) - Parent #1 - likely pathogenic g.2185653A>T g.2135652A>T - - PKD1_000147 not in 98 control chromosomes PubMed: Rossetti 2001 - - Germline ? - - - - DNA SEQ - - PKD1 - PubMed: Rossetti 2001 family, 2 affecteds ? - - - - - - - 2 Johan den Dunnen
+?/. 1 c.38T>A r.(?) p.(Leu13Gln) - Unknown - likely pathogenic (dominant) g.2185653A>T g.2135652A>T - - PKD1_000147 likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.46_51del r.(?) p.(Gly16_Leu17del) - Unknown - likely pathogenic (dominant) g.2185650_2185655del g.2135649_2135654del 46_51delGGCCTG - PKD1_002841 likely pathogenic in ADPKDdb; reported in 2 families in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.63_75del r.(?) p.(Leu22Profs*47) - Unknown - pathogenic (dominant) g.2185621_2185633del g.2135620_2135632del 63_75del13 - PKD1_002839 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.71_81del r.(?) p.(Gly24Alafs*86) - Unknown ACMG pathogenic g.2185612_2185622del g.2135611_2135621del 69_79del - PKD1_002956 - - ClinVar-3374704 - Germline yes - - - - DNA SEQ-NG-I peripheral blood CES PKD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. 1 c.74del r.(?) p.(Gly25Alafs*48) - Unknown - pathogenic (dominant) g.2185622del g.2135621del 74delG - PKD1_000501 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.74G>T r.(?) p.(Gly25Val) - Unknown - VUS g.2185617C>A g.2135616C>A - - PKD1_002840 indeterminate in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.74_75delinsA r.(?) p.(Gly25Aspfs*48) - Unknown - pathogenic (dominant) g.2185616_2185617delinsT g.2135615_2135616delinsT 74_75delGCinsA - PKD1_000208 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.82C>T r.(?) p.(Arg28Cys) - Unknown - likely benign g.2185609G>A g.2135608G>A - - PKD1_002838 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.96C>T r.(=) p.(=) - Unknown - VUS g.2185595G>A g.2135594G>A - - PKD1_000763 HC; D; Likely S FN - - - Unknown - 1/19 patients - - - DNA SEQ-PB - - PKD1 - submitted HuMu - - - - - - - EGA database Id: EGAS00001002106 - 1 Daniel M. Borras
+?/. 1 c.97_105del r.(?) p.(Cys33_Pro35del) - Unknown - likely pathogenic (dominant) g.2185590_2185598del g.2135589_2135597del 97_105delTGCGAGCCC - PKD1_002836 likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.99del r.(?) p.(Cys33Trpfs*40) - Unknown - pathogenic (dominant) g.2185592del g.2135591del 99delC - PKD1_000415 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.102_103del r.(?) p.(Glu34Aspfs*79) - Unknown - pathogenic (dominant) g.2185588_2185589del g.2135587_2135588del 102_103delGC - PKD1_002837 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.107C>A r.(?) p.(Pro36His) - Unknown - likely benign g.2185584G>T g.2135583G>T PKD1(NM_000296.3):c.107C>A (p.(Pro36His)), PKD1(NM_001009944.2):c.107C>A (p.P36H) - PKD1_001113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.107C>A r.(?) p.(Pro36His) - Unknown - likely benign g.2185584G>T g.2135583G>T - - PKD1_001113 reported in 7 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.107C>A r.(?) p.(Pro36His) - Unknown - benign g.2185584G>T - PKD1(NM_000296.3):c.107C>A (p.(Pro36His)), PKD1(NM_001009944.2):c.107C>A (p.P36H) - PKD1_001113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.107_108dup r.(?) p.(Cys37Profs*37) - Unknown - pathogenic (dominant) g.2185587_2185588dup g.2135586_2135587dup 108_109insCC - PKD1_000207 definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.107_108dup r.(?) p.(Cys37ProfsTer37) - Parent #1 - pathogenic (dominant) g.2185587_2185588dup g.2135586_2135587dup - - PKD1_000207 - PubMed: Audrezet 2012 - - Germline yes - - - - DNA SEQ - - PKD 10132 PubMed: Audrezet 2012 family, 10 affected - - France - - - - - 10 Johan den Dunnen
+/. 1 c.108dup r.(?) p.(Cys37Leufs*77) - Unknown - pathogenic (dominant) g.2185588dup g.2135587dup 108_109insC - PKD1_002835 definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.109del r.(?) p.(Cys37Alafs*36) - Unknown - pathogenic (dominant) g.2185582del g.2135581del 109delT - PKD1_002834 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.109del r.(?) p.(Cys37AlafsTer36) - Parent #1 - pathogenic (dominant) g.2185582del g.2135581del - - PKD1_002834 - PubMed: Audrezet 2012 - - Germline - - - - - DNA SEQ - - PKD 10489 PubMed: Audrezet 2012 patient, family history - - France - - - - - 1 Johan den Dunnen
+/. 1 c.111C>A r.(?) p.(Cys37*) - Unknown - pathogenic (dominant) g.2185580G>T g.2135579G>T - - PKD1_000500 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.114C>T r.(?) p.(=) - Unknown - likely benign g.2185577G>A g.2135576G>A - - PKD1_002833 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.122C>T r.(?) p.(Pro41Leu) - Unknown - VUS g.2185569G>A g.2135568G>A - - PKD1_000762 HC; D; Likely S FN - - - Unknown - 2/19 patients - - - DNA SEQ-PB - - PKD1 - submitted HuMu - - - - - - - EGA database Id: EGAS00001002106 - 2 Daniel M. Borras
?/. - c.122C>T r.(?) p.(Pro41Leu) - Unknown - VUS g.2185569G>A - - - PKD1_000762 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.129C>T r.(=) p.(=) - Unknown - VUS g.2185562G>A g.2135561G>A - - PKD1_000761 HC; D; Likely S FN - - - Unknown - 1/19 patients - - - DNA SEQ-PB - - PKD1 - submitted HuMu - - - - - - - EGA database Id: EGAS00001002106 - 1 Daniel M. Borras
-?/. 1 c.138C>T r.(?) p.(=) - Unknown - likely benign g.2185553G>A g.2135552G>A - - PKD1_002832 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.140G>C r.(?) p.(Cys47Ser) - Unknown - likely pathogenic (dominant) g.2185551C>G g.2135550C>G - - PKD1_002831 highly likely pathogenic in ADPKDdb; reported in 1 family in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.144C>G r.(?) p.(=) - Unknown - likely benign g.2185547G>C g.2135546G>C - - PKD1_002830 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.147C>T r.(?) p.(=) - Unknown - likely benign g.2185544G>A g.2135543G>A - - PKD1_002829 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.152G>C r.(?) p.(Cys51Ser) - Unknown - likely pathogenic (dominant) g.2185539C>G g.2135538C>G - - PKD1_002828 highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.153C>G r.(?) p.(Cys51Trp) - Unknown - likely pathogenic (dominant) g.2185538G>C g.2135537G>C - - PKD1_002827 highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.153C>G r.(?) p.(Cys51Trp) - Parent #1 - likely pathogenic (dominant) g.2185538G>C g.2135537G>C - - PKD1_002827 - PubMed: Audrezet 2012, PubMed: Cornec-Le Gall 2013 - - Germline yes - - - - DNA SEQ - - PKD 10303 PubMed: Audrezet 2012, PubMed: Cornec-Le Gall 2013 family, 2 affected - - France - - - - - 2 Johan den Dunnen
+/. 1 c.153del r.(?) p.(Ser52Argfs*21) - Unknown - pathogenic (dominant) g.2185538del g.2135537del 153delC - PKD1_002826 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.155C>T r.(?) p.(Ser52Leu) - Unknown - likely pathogenic (dominant) g.2185536G>A g.2135535G>A - - PKD1_002825 likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.158_179del r.(?) p.(Gly53Valfs*13) - Unknown - pathogenic (dominant) g.2185518_2185539del g.2135517_2135538del 158_179del22 - PKD1_002823 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.158_179del r.(?) p.(Gly53ValfsTer13) - Parent #1 - pathogenic (dominant) g.2185518_2185539del g.2135517_2135538del - - PKD1_002823 - PubMed: Audrezet 2012 - - Germline yes - - - - DNA SEQ - - PKD 10412 PubMed: Audrezet 2012 family, 2 affected - - France - - - - - 2 Johan den Dunnen
+/+ 1 c.160_166dup r.(?) p.(Leu56Profs*60) - Unknown - pathogenic g.2185530_2185536dup g.2135529_2135535dup - - PKD1_000708 - - - - Unknown - - - - - DNA SEQ blood - PKD1 - Carrera et al., submitted 2 generation family F - Italy white - - contributing lab 7 - 1 Paola Carrera
+/. 1 c.165_171del r.(?) p.(Leu56Argfs*15) - Unknown - pathogenic (dominant) g.2185524_2185530del g.2135523_2135529del 165_171del7 - PKD1_000414 definitely pathogenic in ADPKDdb; reported in 4 families in 3 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.165_171del r.(?) p.(Leu56ArgfsTer15) - Unknown - pathogenic (dominant) g.2185524_2185530del g.2135523_2135529del - - PKD1_000414 - PubMed: Audrezet 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - PKD 10164 PubMed: Audrezet 2012 patient - - France - - - - - 1 Johan den Dunnen
-?/. 1 c.169C>T r.(?) p.(Arg57Trp) - Unknown - likely benign g.2185522G>A g.2135521G>A - - PKD1_002824 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.182C>T r.(?) p.(Pro61Leu) - Unknown - VUS g.2185509G>A g.2135508G>A - - PKD1_000760 HC; D; Likely S FN - - - Unknown - 1/19 patients - - - DNA SEQ-PB - - PKD1 - submitted HuMu - - - - - - - EGA database Id: EGAS00001002106 - 1 Daniel M. Borras
?/. - c.182C>T r.(?) p.(Pro61Leu) - Unknown - VUS g.2185509G>A g.2135508G>A - - PKD1_000760 - PubMed: Waldrop 2019 - - Germline - - - - - DNA SEQ - - PKD Pat1 PubMed: Waldrop 2019 3-generation family, 3 affected (father and paternal grandmother ADPKD history untested) F - United States - - - - - 1 Johan den Dunnen
-?/. 1 c.182C>T r.(?) p.(Pro61Leu) - Unknown - likely benign g.2185509G>A g.2135508G>A - - PKD1_000760 reported in 4 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.182C>T r.(?) p.(Pro61Leu) - Unknown - likely benign g.2185509G>A - PKD1(NM_000296.3):c.182C>T (p.(Pro61Leu)) - PKD1_000760 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.194T>A r.(?) p.(Ile65Asn) PolyPhen: benign; SIFT: damaging; MutationTaster: polymorphism; Grantham: 194; AGVGD: C0 Maternal (inferred) - VUS g.2185497A>T g.2135496A>T - - PKD1_000707 - - - - Germline - - - - - DNA SEQ blood - PKD1 - Carrera et al., submitted 3-generation family M - Italy white - - contributing lab 1 - 1 Paola Carrera
?/. 1 c.194T>A r.(?) p.(Ile65Asn) PolyPhen: benign; SIFT: damaging; MutationTaster: polymorphism; Grantham: 194; AGVGD: C0 Parent #1 - VUS g.2185497A>T g.2135496A>T - - PKD1_000707 - - - - Germline - - - - - DNA SEQ blood - PKD1 - Carrera et al., submitted 3-generation family M - Italy white - - contributing lab 1 - 1 Paola Carrera
-?/. 1 c.214C>T r.(?) p.(=) - Unknown - likely benign g.2185477G>A g.2135476G>A - - PKD1_002822 reported in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.215T>A r.(?) p.(Leu72Gln) - Unknown - likely pathogenic (dominant) g.2185476A>T g.2135475A>T - - PKD1_002821 highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.215+27G>A r.(?) p.(?) - Unknown - likely benign g.2185449C>T g.2135448C>T - - PKD1_000706 - - - - Germline - - - - - DNA SEQ blood - PKD1 - Carrera et al., submitted 3 generation family M - Italy white - - contributing lab 5 - 1 Paola Carrera
+/. 1i_5 c.216-1725_788del r.spl p.? - Unknown - pathogenic (dominant) g.2168206_2171105del g.2118205_2121104del IVS1-1726_787del 2899bp - PKD1_002756 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.216-79C>T r.(?) p.(=) - Unknown - likely benign g.2169458G>A g.2119457G>A - - PKD1_002820 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.216-49C>T r.(?) p.(?) - Unknown - likely benign g.2169428G>A g.2119427G>A - - PKD1_000705 - - - - Germline - - - - - DNA SEQ blood - PKD1 - Carrera et al., submitted 3 generation family M - Italy white - - contributing lab 5 - 1 Paola Carrera
-?/. - c.216-17G>A r.(=) p.(=) - Unknown - likely benign g.2169396C>T - PKD1(NM_001009944.2):c.216-17G>A - TSC2_004756 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.216-1G>C r.spl p.? - Unknown - pathogenic (dominant) g.2169380C>G g.2119379C>G - - PKD1_002819 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.216-1G>C r.spl p.? - Unknown - pathogenic (dominant) g.2169380C>G g.2119379C>G - - PKD1_002819 - PubMed: Audrezet 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - PKD 10384 PubMed: Audrezet 2012 patient - - France - - - - - 1 Johan den Dunnen
+/. 1i_18 c.(215+1_216-1)_(7489+1_7490-1)del r.? p.(Asp73Leufs*3) - Unknown - pathogenic (dominant) g.(2156306_2156398)_(2169380_2185475)del g.(2104643_2105321)_(2119379_2135474)del IVS1_EX18del 17kb - PKD1_002023 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.223T>C r.(?) p.(Ser75Pro) - Unknown - likely pathogenic g.2169372A>G - PKD1(NM_001009944.2):c.223T>C (p.(Ser75Pro)) - TSC2_004561 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.224C>T r.(?) p.(Ser75Phe) - Parent #1 - pathogenic g.2169371G>A g.2119370G>A - - PKD1_000146 - PubMed: Rossetti 2001 - - Unknown yes - - - - DNA SEQ - - PKD1 - PubMed: Rossetti 2001 - ? - - - - - - - 2 Johan den Dunnen
+?/. 2 c.224C>T r.(?) p.(Ser75Phe) PolyPhen: benign; SIFT: damaging; MutationTaster: disease causing; Grantham: 155; AGVGD: C65 Unknown - likely pathogenic g.2169371G>A g.2119370G>A - - PKD1_000146 - - - - Unknown - - - - - DNA SEQ blood - PKD1 - Carrera et al., submitted - F - Italy white - - contributing lab 1 - 1 Paola Carrera
+?/. 2 c.224C>T r.(?) p.(Ser75Phe) - Unknown - likely pathogenic (dominant) g.2169371G>A g.2119370G>A - - PKD1_000146 highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.230A>G r.(?) p.(Asn77Ser) - Unknown - likely pathogenic (dominant) g.2169365T>C g.2119364T>C - - PKD1_002818 highly likely pathogenic in ADPKDdb; reported in 2 families in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.236T>C r.(?) p.(Leu79Pro) - Unknown - likely pathogenic (dominant) g.2169359A>G g.2119358A>G - - PKD1_002817 highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.238C>T r.(?) p.(Arg80Trp) - Unknown - VUS g.2169357G>A g.2119356G>A - - PKD1_002816 indeterminate in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.238C>T r.(?) p.(Arg80Trp) - Unknown - VUS g.2169357G>A - PKD1(NM_000296.3):c.238C>T (p.(Arg80Trp)), PKD1(NM_001009944.2):c.238C>T (p.R80W) - PKD1_002816 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.238C>T r.(?) p.(Arg80Trp) - Unknown - likely benign g.2169357G>A - PKD1(NM_000296.3):c.238C>T (p.(Arg80Trp)), PKD1(NM_001009944.2):c.238C>T (p.R80W) - PKD1_002816 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.239G>A r.(?) p.(Arg80Gln) - Unknown - likely benign g.2169356C>T g.2119355C>T - - PKD1_002815 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.242C>T r.(?) p.(Ala81Val) - Unknown - likely benign g.2169353G>A - PKD1(NM_000296.3):c.242C>T (p.(Ala81Val)), PKD1(NM_001009944.2):c.242C>T (p.A81V) - TSC2_004634 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.242C>T r.(?) p.(Ala81Val) - Unknown - likely benign g.2169353G>A - PKD1(NM_000296.3):c.242C>T (p.(Ala81Val)), PKD1(NM_001009944.2):c.242C>T (p.A81V) - TSC2_004634 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.259C>A r.(?) p.(Leu87Met) - Unknown - VUS g.2169336G>T g.2119335G>T - - PKD1_002814 indeterminate in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.263C>T r.(?) p.(Ala88Val) - Unknown - likely benign g.2169332G>A g.2119331G>A - - PKD1_002813 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.266A>C r.(?) p.(Asn89Thr) - Unknown - VUS g.2169329T>G g.2119328T>G - - PKD1_002812 indeterminate in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.268C>T r.(?) p.(Leu90Phe) PolyPhen: benign; SIFT: damaging; MutationTaster: polymorphism; Grantham: 22; AGVGD: C0 Unknown - VUS g.2169327G>A g.2119326G>A - - PKD1_000704 - - - - Germline - - - - - DNA SEQ blood - PKD - Carrera et al., submitted large 4-generation family F yes Italy white - - contributing lab 4 - 1 Paola Carrera
+/. 2 c.271_272del r.(?) p.(Ser91Glyfs*22) - Unknown - pathogenic (dominant) g.2169326_2169327del g.2119325_2119326del 271_272delTC - PKD1_002811 definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.272C>A r.(?) p.(Ser91*) - Unknown - pathogenic (dominant) g.2169323G>T g.2119322G>T - - PKD1_000314 definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.272C>T r.(?) p.(Ser91Leu) - Unknown - VUS g.2169323G>A - PKD1(NM_001009944.3):c.272C>T (p.S91L) - TSC2_004427 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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