Unique variants in the PKD1 gene

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

3786 entries on 38 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/Grantham     

Predict/AGVGD     

Predict/PolyPhen     

Predict/SIFT     

Predict/MutationTaster     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 1 c.-117G>T r.(?) p.(=) - - - - - - likely benign g.2185807C>A g.2135806C>A - - PKD1_002849 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 1 c.-108C>T r.(?) p.(=) - - - - - - likely benign g.2185798G>A g.2135797G>A - - PKD1_002848 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 1 c.-76G>C r.(?) p.(=) - - - - - - likely benign g.2185766C>G g.2135765C>G - - PKD1_002847 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 1 c.-67C>T r.(?) p.(=) - - - - - - likely benign g.2185757G>A g.2135756G>A - - PKD1_002846 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 1 c.-61T>C r.(?) p.(=) - - - - - - likely benign g.2185751A>G g.2135750A>G - - PKD1_002845 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 1 c.-52C>T r.(?) p.(=) - - - - - - likely benign g.2185742G>A g.2135741G>A - - PKD1_002844 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 1 c.-2C>T r.(?) p.(Met1dup) - - - - - - likely benign g.2185692G>A g.2135691G>A - - PKD1_002843 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+/. 2 _1_1i c.(?_-1)_(215+1_216-1)del r.0? p.0? - - - - - - pathogenic (dominant) g.(2169380_2185475)_(2185691_?)del g.(2119379_2135474)_(2135690_?)del EX1del, IVS1del 2.5kb - PKD1_000929 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper, 1 more item copied from ADPKD mutation database Mayo Clinic, copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+/. 1 1_15i c.(?_-1)_(6915+1_6916-1)del r.0? p.0? - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 1_21i c.(?_-1)_(8016+1_8017-1)del r.0? p.0? - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 _1_39i c.(?_-1)_(11269+1_11270-1)del r.0? p.0? - - - - - - pathogenic (dominant) g.(2142190_2142480)_(2185691_?)del g.(2092189_2092479)_(2135690_?)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 - - - - - Johan den Dunnen
+/. 2 - c.3887_*1017{0} r.? p.? - - - - - - pathogenic (dominant) g.2106894_2161281del g.2056893_2088712{0} 16p13.3 (2,106,894-2,161,281) x1/54kb interstital deletion - TSC2_001558 2 more items Unpublished - - Germline, SUMMARY record - - - - - Rosemary Ekong
-?/. 1 5 c.603C>R r.(?) p.(His201Gln) - - - - - - likely benign g.2168390G>Y g.2118389G>Y 603C>T (His201Gln) - PKD1_000936 variant description not correct; reported in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+?/. 1 27i_32i c.? r.? p.? - - - - - - 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 - - - - - Johan den Dunnen
+?/. 1 23 c.[8235T>G;8279T>C;8282G>C;8287G>C;8291T>C] r.(?) p.[(Met2760Thr);(Arg2761Pro);(Leu2763Val);(Met2764Thr)] - - - - - - likely pathogenic (dominant) g.[2153823A>C;2153779A>G;2153776C>G;2153771G>C;2153767A>G] g.[2103822A>C;2103778A>G;2103775C>G;2103770G>C;2103766A>G] [8235T>G;8279T>C;8282G>C;8287G>C;8291T>C] - PKD1_001192 gene conversion ex23; highly likely pathogenic allele in ADPKDdb; reported in 2 families in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 23 c.[8235T>G;8279T>C;8282G>C;8291T>C;8477T>C] r.(?) p.[(Met2760Thr);(Arg2761Pro);(Met2764Thr);(Ile2826Thr)] - - - - - - likely benign g.[2153823A>C;2153779A>G;2153776C>G;2153767A>G;2153581A>G] g.[2103822A>C;2103778A>G;2103775C>G;2103766A>G;2103580A>G] [8235T>G;8279T>C;8282G>C;8291T>C;8477T>C] - PKD1_001191 gene conversion ex23; highly likely pathogenic allele in ADPKDdb; reported in 2 families in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
?/. 1 1 c.8C>G r.(?) p.(Pro3Arg) - - - - - - 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 - - - - - Johan den Dunnen
+/. 2 1 c.13_25del r.(?) p.(Ala5Trpfs*64) - - - - - - pathogenic, 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, PubMed: Rossetti 2001 - - CLASSIFICATION record, Germline ? - - - - Johan den Dunnen
+/. 1 1 c.24_27del r.(?) p.(Leu9Argfs*63) - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 1 c.29_46del r.(?) p.(Ala10_Leu15del) - - - - - - 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 - - - - - Johan den Dunnen
+?/. 2 1 c.38T>A r.(?) p.(Leu13Gln) - - - - - - likely pathogenic, likely pathogenic (dominant) g.2185653A>T g.2135652A>T - - PKD1_000147 likely pathogenic in ADPKDdb; reported in 1 family in 1 paper, not in 98 control chromosomes copied from ADPKD mutation database Mayo Clinic, PubMed: Rossetti 2001 - - CLASSIFICATION record, Germline ? - - - - Johan den Dunnen
+?/. 1 1 c.46_51del r.(?) p.(Gly16_Leu17del) - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 1 c.63_75del r.(?) p.(Leu22Profs*47) - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 1 c.74del r.(?) p.(Gly25Alafs*48) - - - - - - 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 - - - - - Johan den Dunnen
?/. 1 1 c.74G>T r.(?) p.(Gly25Val) - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 1 c.74_75delinsA r.(?) p.(Gly25Aspfs*48) - - - - - - 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 - - - - - Johan den Dunnen
-?/. 1 1 c.82C>T r.(?) p.(Arg28Cys) - - - - - - likely benign g.2185609G>A g.2135608G>A - - PKD1_002838 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
?/? 1 1 c.96C>T r.(=) p.(=) - - - - - - VUS g.2185595G>A g.2135594G>A - - PKD1_000763 HC; D; Likely S FN - - - Unknown - 1/19 patients - - - Daniel M. Borras
+?/. 1 1 c.97_105del r.(?) p.(Cys33_Pro35del) - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 1 c.99del r.(?) p.(Cys33Trpfs*40) - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 1 c.102_103del r.(?) p.(Glu34Aspfs*79) - - - - - - 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 - - - - - Johan den Dunnen
-?/. 2 1 c.107C>A r.(?) p.(Pro36His) - - - - - - likely benign g.2185584G>T g.2135583G>T PKD1(NM_000296.3):c.107C>A (p.(Pro36His)) - PKD1_001113 reported in 7 papers, VKGL data sharing initiative Nederland copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Leiden
+/. 1 1 c.107_108dup r.(?) p.(Cys37Profs*37) - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 1 c.108dup r.(?) p.(Cys37Leufs*77) - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 1 c.109del r.(?) p.(Cys37Alafs*36) - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 1 c.111C>A r.(?) p.(Cys37*) - - - - - - 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 - - - - - Johan den Dunnen
-?/. 1 1 c.114C>T r.(?) p.(=) - - - - - - likely benign g.2185577G>A g.2135576G>A - - PKD1_002833 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
?/? 1 1 c.122C>T r.(?) p.(Pro41Leu) - - - - - - VUS g.2185569G>A g.2135568G>A - - PKD1_000762 HC; D; Likely S FN - - - Unknown - 2/19 patients - - - Daniel M. Borras
?/? 1 1 c.129C>T r.(=) p.(=) - - - - - - VUS g.2185562G>A g.2135561G>A - - PKD1_000761 HC; D; Likely S FN - - - Unknown - 1/19 patients - - - Daniel M. Borras
-?/. 1 1 c.138C>T r.(?) p.(=) - - - - - - likely benign g.2185553G>A g.2135552G>A - - PKD1_002832 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+?/. 1 1 c.140G>C r.(?) p.(Cys47Ser) - - - - - - 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 - - - - - Johan den Dunnen
-?/. 1 1 c.144C>G r.(?) p.(=) - - - - - - likely benign g.2185547G>C g.2135546G>C - - PKD1_002830 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 1 c.147C>T r.(?) p.(=) - - - - - - likely benign g.2185544G>A g.2135543G>A - - PKD1_002829 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+?/. 1 1 c.152G>C r.(?) p.(Cys51Ser) - - - - - - 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 - - - - - Johan den Dunnen
+?/. 1 1 c.153C>G r.(?) p.(Cys51Trp) - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 1 c.153del r.(?) p.(Ser52Argfs*21) - - - - - - 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 - - - - - Johan den Dunnen
+?/. 1 1 c.155C>T r.(?) p.(Ser52Leu) - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 1 c.158_179del r.(?) p.(Gly53Valfs*13) - - - - - - 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 - - - - - Johan den Dunnen
+/+ 1 1 c.160_166dup r.(?) p.(Leu56Profs*60) - - - - - - pathogenic g.2185530_2185536dup g.2135529_2135535dup - - PKD1_000708 - - - - Unknown - - - - - Paola Carrera
+/. 1 1 c.165_171del r.(?) p.(Leu56Argfs*15) - - - - - - 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 - - - - - Johan den Dunnen
-?/. 1 1 c.169C>T r.(?) p.(Arg57Trp) - - - - - - likely benign g.2185522G>A g.2135521G>A - - PKD1_002824 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/., ?/., ?/? 3 1 c.182C>T r.(?) p.(Pro61Leu) - - - - - - likely benign, VUS g.2185509G>A g.2135508G>A - - PKD1_000760 HC; D; Likely S FN, reported in 4 papers copied from ADPKD mutation database Mayo Clinic, PubMed: Waldrop 2019 - - CLASSIFICATION record, Germline, Unknown - 1/19 patients - - - Johan den Dunnen, Daniel M. Borras
?/. 2 1 c.194T>A r.(?) p.(Ile65Asn) 194 C0 benign damaging polymorphism - VUS g.2185497A>T g.2135496A>T - - PKD1_000707 - - - - Germline - - - - - Paola Carrera
-?/. 1 1 c.214C>T r.(?) p.(=) - - - - - - likely benign g.2185477G>A g.2135476G>A - - PKD1_002822 reported in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+?/. 1 1 c.215T>A r.(?) p.(Leu72Gln) - - - - - - 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 - - - - - Johan den Dunnen
-?/. 1 1i c.215+27G>A r.(?) p.(?) - - - - - - likely benign g.2185449C>T g.2135448C>T - - PKD1_000706 - - - - Germline - - - - - Paola Carrera
+/. 1 1i_5 c.216-1725_788del r.spl p.? - - - - - - 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 - - - - - Johan den Dunnen
-?/. 1 1i c.216-79C>T r.(?) p.(=) - - - - - - likely benign g.2169458G>A g.2119457G>A - - PKD1_002820 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 1i c.216-49C>T r.(?) p.(?) - - - - - - likely benign g.2169428G>A g.2119427G>A - - PKD1_000705 - - - - Germline - - - - - Paola Carrera
+/. 1 1i c.216-1G>C r.spl p.? - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 1i_18 c.(215+1_216-1)_(7489+1_7490-1)del r.? p.(Asp73Leufs*3) - - - - - - 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 - - - - - Johan den Dunnen
+?/. 1 - c.223T>C r.(?) p.(Ser75Pro) - - - - - - likely pathogenic g.2169372A>G - PKD1(NM_001009944.2):c.223T>C (p.(Ser75Pro)) - TSC2_004561 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., +?/. 3 2 c.224C>T r.(?) p.(Ser75Phe) 155 C65 benign damaging disease causing - likely pathogenic, likely pathogenic (dominant), pathogenic 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, PubMed: Rossetti 2001 - - CLASSIFICATION record, Unknown yes - - - - Johan den Dunnen, Paola Carrera
+?/. 1 2 c.230A>G r.(?) p.(Asn77Ser) - - - - - - 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 - - - - - Johan den Dunnen
+?/. 1 2 c.236T>C r.(?) p.(Leu79Pro) - - - - - - 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 - - - - - Johan den Dunnen
-?/., ?/. 3 2 c.238C>T r.(?) p.(Arg80Trp) - - - - - - likely benign, VUS g.2169357G>A g.2119356G>A PKD1(NM_000296.3):c.238C>T (p.(Arg80Trp)), PKD1(NM_001009944.2):c.238C>T (p.R80W) - PKD1_002816 indeterminate in ADPKDdb; reported in 1 family in 1 paper, VKGL data sharing initiative Nederland copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 1 2 c.239G>A r.(?) p.(Arg80Gln) - - - - - - likely benign g.2169356C>T g.2119355C>T - - PKD1_002815 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
?/. 1 2 c.259C>A r.(?) p.(Leu87Met) - - - - - - 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 - - - - - Johan den Dunnen
-?/. 1 2 c.263C>T r.(?) p.(Ala88Val) - - - - - - likely benign g.2169332G>A g.2119331G>A - - PKD1_002813 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
?/. 1 2 c.266A>C r.(?) p.(Asn89Thr) - - - - - - 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 - - - - - Johan den Dunnen
?/. 1 2 c.268C>T r.(?) p.(Leu90Phe) 22 C0 benign damaging polymorphism - VUS g.2169327G>A g.2119326G>A - - PKD1_000704 - - - - Germline - - - - - Paola Carrera
+/. 1 2 c.271_272del r.(?) p.(Ser91Glyfs*22) - - - - - - 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 - - - - - Johan den Dunnen
+/. 1 2 c.272C>A r.(?) p.(Ser91*) - - - - - - 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 - - - - - Johan den Dunnen
?/. 1 - c.272C>T r.(?) p.(Ser91Leu) - - - - - - VUS g.2169323G>A - PKD1(NM_001009944.2):c.272C>T (p.S91L) - TSC2_004427 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 2 c.274G>A r.(?) p.(Ala92Thr) - - - - - - likely benign g.2169321C>T g.2119320C>T - - PKD1_002810 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 2 2 c.276G>A r.(?) p.(=), p.(Ala92=) - - - - - - likely benign g.2169319C>T g.2119318C>T PKD1(NM_000296.3):c.276G>A (p.(=)) - PKD1_002809 reported in 6 papers, VKGL data sharing initiative Nederland copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Leiden
+?/. 1 2 c.287T>C r.(?) p.(Leu96Pro) - - - - - - likely pathogenic (dominant) g.2169308A>G g.2119307A>G - - PKD1_002808 highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+?/. 1 2i c.287+4A>C r.spl? p.? - - - - - - likely pathogenic (dominant) g.2169304T>G g.2119303T>G - - PKD1_002807 likely pathogenic in ADPKDdb; reported in 2 families in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 2i c.288-32A>G r.(?) p.(=) - - - - - - likely benign g.2169218T>C g.2119217T>C - - PKD1_002806 reported in 3 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 2i c.288-21C>T r.(?) p.(=) - - - - - - likely benign g.2169207G>A g.2119206G>A - - PKD1_002805 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 2i c.288-11G>C r.(?) p.(=) - - - - - - likely benign g.2169197C>G g.2119196C>G - - PKD1_002804 reported in 3 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 2i c.288-3C>T r.spl? p.(=) - - - - - - likely benign g.2169189G>A g.2119188G>A - - PKD1_002803 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+/. 1 2i c.288-2A>G r.spl p.? - - - - - - pathogenic (dominant) g.2169188T>C g.2119187T>C - - PKD1_002802 definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 2 3 c.288G>A r.(?) p.(=), p.(Leu96=) - - - - - - likely benign g.2169186C>T g.2119185C>T PKD1(NM_000296.3):c.288G>A (p.(=)) - PKD1_002801 reported in 1 paper, VKGL data sharing initiative Nederland copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Leiden
+?/. 1 3 c.290A>G r.(?) p.(Asp97Gly) - - - - - - likely pathogenic (dominant) g.2169184T>C g.2119183T>C - - PKD1_000499 likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+?/. 1 3 c.296G>T r.(?) p.(Ser99Ile) - - - - - - likely pathogenic (dominant) g.2169178C>A g.2119177C>A - - PKD1_000438 likely pathogenic in ADPKDdb; reported in 1 family in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+?/. 1 3 c.301A>G r.(?) p.(Asn101Asp) - - - - - - likely pathogenic (dominant) g.2169173T>C g.2119172T>C - - PKD1_002800 highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+?/. 1 3 c.302A>G r.(?) p.(Asn101Ser) 46 C45 probably damaging damaging disease causing - likely pathogenic g.2169172T>C g.2119171T>C - - PKD1_000703 - - - - Germline - - - - - Paola Carrera
+/., +?/. 2 3 c.303_305del r.(?) p.(Asn101del) - - - - - - likely pathogenic (dominant), pathogenic g.2169175_2169177del g.2119174_2119176del 303_305delCAA, PKD1(NM_001009944.2):c.303_305del (p.(Asn101del)) - PKD1_000313 highly likely pathogenic in ADPKDdb; reported in 2 families in 3 papers, 1 more item copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Leiden
+?/. 1 3 c.308T>C r.(?) p.(Ile103Thr) - - - - - - likely pathogenic (dominant) g.2169166A>G g.2119165A>G - - PKD1_002799 highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 2 3 c.313A>T r.(?) p.(Thr105Ser) - - - - - - likely benign g.2169161T>A g.2119160T>A PKD1(NM_000296.3):c.313A>T (p.(Thr105Ser)) - PKD1_002798 reported in 1 paper, VKGL data sharing initiative Nederland copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Leiden
+/. 1 3 c.322G>T r.(?) p.(Glu108*) - - - - - - pathogenic (dominant) g.2169152C>A g.2119151C>A - - PKD1_002797 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+?/. 1 3 c.323_325del r.(?) p.(Glu108del) - - - - - - likely pathogenic (dominant) g.2169154_2169156del g.2119153_2119155del 323_325delAAG - PKD1_000427 highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 3 c.327A>T r.(?) p.(=) - - - - - - likely benign g.2169147T>A g.2119146T>A - - PKD1_002796 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
-?/. 1 3 c.333T>G r.(?) p.(Phe111Leu) - - - - - - likely benign g.2169141A>C g.2119140A>C - - PKD1_002795 reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+/. 1 3 c.341_345del r.(?) p.(Leu114*) - - - - - - pathogenic (dominant) g.2169131_2169135del g.2119130_2119134del 341_345delTATTT - PKD1_002794 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+/+ 1 3 c.343_346del r.(?) p.(Phe115Ilefs*2) - - - - - - pathogenic g.2169133_2169136del g.2119132_2119135del - - PKD1_000702 - - - - Germline - - - - - Paola Carrera
+/. 2 3 c.348_352del r.(?) p.(Asn116Lysfs*2) - - - - - - pathogenic, pathogenic (dominant) g.2169128_2169132del g.2119127_2119131del 348_352delTTTAA - PKD1_000312 definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers, 1 more item copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+?/. 1 3 c.359T>C r.(?) p.(Ile120Thr) - - - - - - likely pathogenic (dominant) g.2169115A>G g.2119114A>G - - PKD1_002793 highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
+/. 1 3i c.359+1G>A r.spl p.? - - - - - - pathogenic (dominant) g.2169114C>T g.2119113C>T - - PKD1_002792 definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - Johan den Dunnen
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