All variants in the PKD2 gene

Information The variants shown are described using the NM_000297.3 transcript reference sequence.

475 entries on 5 pages. Showing entries 1 - 100.
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Effect     

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     
-/. - c.-82G>C r.(?) p.(=) - - - - - - benign g.88928804G>C g.88007652G>C PKD2(NM_000297.3):c.-82G>C - PKD2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. _1_14_ c.(?_1)_(2670+1_?)del r.0? p.0? - - - - - - pathogenic (dominant) g.(?_88928885)_(88996112_?)del g.(?_88007733)_(88074960_?)del 1_2670del - PKD2_000185 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+?/. 1 c.2T>A r.(?) p.0? - - - - - - likely pathogenic (dominant) g.88928887T>A g.88007735T>A Met1Lys - PKD2_000186 definitely pathogenic in ADPKDdb; 2 families reported in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. 1 c.54G>T r.(?) p.(=) - - - - - - likely benign g.88928939G>T g.88007787G>T - - PKD2_000187 definitely pathogenic in ADPKDdb; 2 families reported in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
?/. 1 c.70C>T r.(?) p.(Pro24Ser) 74 C0 benign Tolerated polymorphism - VUS g.88928955C>T g.88007803C>T - - PKD2_000152 - - - - Unknown - - - 0 - Paola Carrera
-?/. 1 c.71C>T r.(?) p.(Pro24Leu) - - - - - - likely benign g.88928956C>T g.88007804C>T - - PKD2_000188 definitely pathogenic in ADPKDdb; 2 families reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.73_124dup r.(?) p.(Ala42Glyfs*67) - - - - - - pathogenic (dominant) g.88928958_88929009dup g.88007806_88007857dup 124_125insGACCCGGGCCGGCTGATGGCTGGCTGCGCGGCCGTGGGCGCCAGCCTCGCCG - PKD2_000189 definitely pathogenic in ADPKDdb; 3 families reported in 4 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. 1 c.83G>C r.(?) p.(Arg28Pro) - - - - - - likely benign g.88928968G>C g.88007816G>C - - PKD2_000167 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. 1 c.103_104delinsAA r.(?) p.(Ala35Asn) - - - - - - likely benign g.88928988_88928989delinsAA g.88007836_88007837delinsAA 103G>A+104C>A (Ala35Asp) - PKD2_000190 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.128del r.(?) p.(Pro43Argfs*74) - - - - - - pathogenic g.88929013del g.88007861del - - PKD2_000034 - PubMed: Pei 1998 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.128del r.(?) p.(Pro43Argfs*74) - - - - - - pathogenic (dominant) g.88929013del g.88007861del 128delC - PKD2_000034 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
?/. 1 c.140G>T r.(?) p.(Cys47Phe) - - - - - - VUS g.88929025G>T g.88007873G>T - - PKD2_000151 - - - - Germline - - - 0 - Paola Carrera
+/. 1 c.145C>T r.(?) p.(Gln49*) - - - - - - pathogenic g.88929030C>T g.88007878C>T - - PKD2_000077 - PubMed: Stekrova 2004 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.145C>T r.(?) p.(Gln49*) - - - - - - pathogenic (dominant) g.88929030C>T g.88007878C>T - - PKD2_000077 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. 1 c.179G>A r.(?) p.(Arg60Gln) - - - - - - likely benign g.88929064G>A g.88007912G>A - - PKD2_000191 definitely pathogenic in ADPKDdb; 14 families reported in 6 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. 1 c.180G>A r.(?) p.(=) - - - - - - likely benign g.88929065G>A g.88007913G>A - - PKD2_000192 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.181C>T r.(?) p.(Gln61*) - - - - - - pathogenic (dominant) g.88929066C>T g.88007914C>T - - PKD2_000193 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.189del r.(?) p.(Ala64Argfs*53) - - - - - - pathogenic g.88929074del g.88007922del - - PKD2_000059 - PubMed: Rossetti 2002 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.189del r.(?) p.(Ala64Argfs*53) - - - - - - pathogenic (dominant) g.88929074del g.88007922del 189delC - PKD2_000059 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.196_199dup r.(?) p.(Pro67Argfs*26) - - - - - - pathogenic g.88929081_88929084dup g.88007929_88007932dup - - PKD2_000121 - PubMed: Tan 2009 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.196_199dup r.(?) p.(Pro67Argfs*26) - - - - - - pathogenic (dominant) g.88929081_88929084dup g.88007929_88007932dup 199_200insGACC - PKD2_000121 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.200_213del r.(?) p.(Pro67Argfs*20) - - - - - - pathogenic (dominant) g.88929085_88929098del g.88007933_88007946del 200_213del14 - PKD2_000194 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.203del r.(?) p.(Pro68Argfs*49) - - - - - - pathogenic (dominant) g.88929088del g.88007936del 203delC - PKD2_000195 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.203dup r.(?) p.(Ala69Glyfs*23) - - - - - - pathogenic g.88929088dup g.88007936dup - - PKD2_000041 - PubMed: Torra 1999 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.203dup r.(?) p.(Ala69Glyfs*23) - - - - - - pathogenic (dominant) g.88929088dup g.88007936dup 203_204insC - PKD2_000041 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.209del r.(?) p.(Gly70Glufs*47) - - - - - - pathogenic g.88929094del g.88007942del - - PKD2_000053 - PubMed: Torra 2000 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.209del r.(?) p.(Gly70Glufs*47) - - - - - - pathogenic (dominant) g.88929094del g.88007942del 209delG - PKD2_000053 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
?/. 1 c.239C>T r.(?) p.(Ser80Leu) - - - - - - VUS g.88929124C>T g.88007972C>T - - PKD2_000196 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/+ 1 c.250del r.(?) p.(Arg84Glyfs*33) - - - - - - pathogenic g.88929135del g.88007983del - - PKD2_000150 - - - - Unknown - - - 0 - Paola Carrera
+/. 1 c.253C>T r.(?) p.(Gln85*) - - - - - - pathogenic g.88929138C>T g.88007986C>T - - PKD2_000104 - PubMed: Rossetti 2007 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.253C>T r.(?) p.(Gln85*) - - - - - - pathogenic (dominant) g.88929138C>T g.88007986C>T - - PKD2_000104 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.283G>T r.(?) p.(Glu95*) - - - - - - pathogenic (dominant) g.88929168G>T g.88008016G>T - - PKD2_000197 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. - c.305_307del r.(?) p.(Glu102del) - - - - - - likely benign g.88929190_88929192del g.88008038_88008040del PKD2(NM_000297.3):c.305_307delAGG (p.E102del) - PKD2_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.305_307dup r.(?) p.(Glu102dup) - - - - - - benign g.88929190_88929192dup g.88008038_88008040dup PKD2(NM_000297.3):c.305_307dupAGG (p.E102dup) - PKD2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 c.305_307dup r.(?) p.(Glu102dup) - - - - - - VUS g.88929190_88929192dup g.88008038_88008040dup 306_307insGAG - PKD2_000170 definitely pathogenic in ADPKDdb; 4 families reported in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
?/. 1 c.305_307dup r.(?) p.(Glu102dup) - - - - - - VUS g.88929190_88929192dup g.88008038_88008040dup 307_308insAGG - PKD2_000170 definitely pathogenic in ADPKDdb; 4 families reported in 4 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.307del r.(?) p.(Val103Trpfs*14) - - - - - - pathogenic g.88929192del g.88008040del - - PKD2_000035 - PubMed: Pei 1998 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.307del r.(?) p.(Val103Trpfs*14) - - - - - - pathogenic (dominant) g.88929192del g.88008040del 307delG - PKD2_000035 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.308_310dup r.(?) p.(Val103dup) - - - - - - pathogenic g.88929193_88929195dup g.88008041_88008043dup - - PKD2_000099 - PubMed: Garcia-Gonzalez 2007 - - Unknown - - - 0 - Johan den Dunnen
-?/. 1 c.321A>T r.(?) p.(Glu107Asp) - - - - - - likely benign g.88929206A>T g.88008054A>T - - PKD2_000198 definitely pathogenic in ADPKDdb; 3 families reported in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.335_339dup r.(?) p.(Met114Trpfs*5) - - - - - - pathogenic (dominant) g.88929220_88929224dup g.88008068_88008072dup 339_340insTGGAG - PKD2_000199 definitely pathogenic in ADPKDdb; 2 families reported in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.339del r.(?) p.(Met114Trpfs*3) - - - - - - pathogenic (dominant) g.88929224del g.88008072del 339delG - PKD2_000200 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.346del r.(?) p.(Val116*) - - - - - - pathogenic (dominant) g.88929231del g.88008079del 346delG - PKD2_000201 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. 1 c.356G>A r.(?) p.(Arg119His) - - - - - - likely benign g.88929241G>A g.88008089G>A - - PKD2_000202 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.357_368delins(22) r.(?) p.? - - - - - - pathogenic (dominant) g.88929242_88929253delins(22) g.88008090_88008101delins(22) - - PKD2_000203 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. 1 c.362G>C r.(?) p.(Gly121Ala) - - - - - - likely benign g.88929247G>C g.88008095G>C - - PKD2_000204 definitely pathogenic in ADPKDdb; 0 families reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
?/. 1 c.404G>T r.(?) p.(Gly135Val) - - - - - - VUS g.88929289G>T g.88008137G>T - - PKD2_000205 definitely pathogenic in ADPKDdb; 0 families reported in 0 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-/. - c.420G>A r.(?) p.(Gly140=) - - - - - - benign g.88929305G>A g.88008153G>A PKD2(NM_000297.3):c.420G>A (p.G140=) - PKD2_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. 1 c.420G>A r.(?) p.(=) - - - - - - likely benign g.88929305G>A g.88008153G>A - - PKD2_000155 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.423_430del r.(?) p.(Gly142Profs*68) - - - - - - pathogenic (dominant) g.88929308_88929315del g.88008156_88008163del 423_430delTGGGGGCT - PKD2_000206 definitely pathogenic in ADPKDdb; 2 families reported in 3 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.428del r.(?) p.(Gly143Alafs*90) - - - - - - pathogenic g.88929313del g.88008161del - - PKD2_000105 - PubMed: Rossetti 2007 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.428del r.(?) p.(Gly143Alafs*90) - - - - - - pathogenic (dominant) g.88929313del g.88008161del 428delG - PKD2_000105 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. 1 c.440C>T r.(?) p.(Ala147Val) - - - - - - likely benign g.88929325C>T g.88008173C>T - - PKD2_000207 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. 1 c.441G>A r.(?) p.(=) - - - - - - likely benign g.88929326G>A g.88008174G>A - - PKD2_000208 definitely pathogenic in ADPKDdb; 5 families reported in 3 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. 1 c.444C>T r.(?) p.(=) - - - - - - likely benign g.88929329C>T g.88008177C>T - - PKD2_000209 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.469C>T r.(?) p.(Arg157*) - - - - - - pathogenic g.88929354C>T g.88008202C>T - - PKD2_000091 - PubMed: Chung 2006 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.469C>T r.(?) p.(Arg157*) - - - - - - pathogenic (dominant) g.88929354C>T g.88008202C>T - - PKD2_000091 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.478C>T r.(?) p.(Gln160*) - - - - - - pathogenic g.88929363C>T g.88008211C>T - - PKD2_000062 - PubMed: Reiterova 2002 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.478C>T r.(?) p.(Gln160*) - - - - - - pathogenic (dominant) g.88929363C>T g.88008211C>T - - PKD2_000062 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.526_529dup r.(?) p.(His177Profs*37) - - - - - - pathogenic (dominant) g.88929411_88929414dup g.88008259_88008262dup 529_530insCGCC - PKD2_000210 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. 1 c.538C>T r.(?) p.(=) - - - - - - likely benign g.88929423C>T g.88008271C>T - - PKD2_000211 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.538dup r.(?) p.(Leu180Profs*33) - - - - - - pathogenic g.88929423dup g.88008271dup - - PKD2_000009 - PubMed: Veldhuisen 1997 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.538dup r.(?) p.(Leu180Profs*33) - - - - - - pathogenic (dominant) g.88929423dup g.88008271dup 538_539insC - PKD2_000009 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+?/. 1 c.540_555dup r.(?) p.(Arg186Glyfs*32) - - - - - - likely pathogenic g.88929425_88929440dup g.88008273_88008288dup - - PKD2_000162 - - - - Germline ? - - 0 - Vilma Mantovani
-?/. 1 c.543A>G r.(?) p.(=) - - - - - - likely benign g.88929428A>G g.88008276A>G - - PKD2_000212 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.556C>T r.(?) p.(Arg186*) - - - - - - pathogenic g.88929441C>T g.88008289C>T - - PKD2_000052 - PubMed: Hateboer 2000 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.556C>T r.(?) p.(Arg186*) - - - - - - pathogenic (dominant) g.88929441C>T g.88008289C>T - - PKD2_000052 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1 c.567G>A r.(?) p.(Trp189*) - - - - - - pathogenic g.88929452G>A g.88008300G>A - - PKD2_000118 - PubMed: Zhao 2008 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.567G>A r.(?) p.(Trp189*) - - - - - - pathogenic (dominant) g.88929452G>A g.88008300G>A - - PKD2_000118 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. 1 c.568G>A r.(?) p.(Ala190Thr) - - - - - - likely benign g.88929453G>A g.88008301G>A - - PKD2_000083 - PubMed: Zhang 2004 - - Unknown - - - 0 - Johan den Dunnen
-/. - c.568G>A r.(?) p.(Ala190Thr) - - - - - - benign g.88929453G>A g.88008301G>A PKD2(NM_000297.3):c.568G>A (p.A190T) - PKD2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. 1 c.568G>A r.(?) p.(Ala190Thr) - - - - - - likely benign g.88929453G>A g.88008301G>A - - PKD2_000083 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. 1 c.570G>T r.(?) p.(=) - - - - - - likely benign g.88929455G>T g.88008303G>T - - PKD2_000213 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1i c.595+1G>A r.spl p.? - - - - - - pathogenic g.88929481G>A g.88008329G>A - - PKD2_000066 - PubMed: Magistroni 2003 - - Unknown - - - 0 - Johan den Dunnen
+/. 1i c.595+1G>A r.spl p.? - - - - - - pathogenic (dominant) g.88929481G>A g.88008329G>A - - PKD2_000066 definitely pathogenic in ADPKDdb; 1 family reported in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1i c.595+1G>C r.spl p.? - - - - - - pathogenic (dominant) g.88929481G>C g.88008329G>C - - PKD2_000214 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
-?/. 1i c.596-16C>T r.(?) p.(=) - - - - - - likely benign g.88940594C>T g.88019442C>T - - PKD2_000215 definitely pathogenic in ADPKDdb; 2 families reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 1i_2 c.596-12_599del r.spl p.? - - - - - - pathogenic g.88940598_88940613del g.88019446_88019461del - - PKD2_000011 - PubMed: Veldhuisen 1997 - - Unknown - - - 0 - Johan den Dunnen
+/. 1i_2 c.596-12_599del r.spl p.? - - - - - - pathogenic (dominant) g.88940598_88940613del g.88019446_88019461del - - PKD2_000011 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 2 c.602G>A r.(?) p.(Trp201*) - - - - - - pathogenic g.88940616G>A g.88019464G>A - - PKD2_000074 - PubMed: Rossetti 2003 - - Unknown - - - 0 - Johan den Dunnen
+/. 2 c.602G>A r.(?) p.(Trp201*) - - - - - - pathogenic (dominant) g.88940616G>A g.88019464G>A - - PKD2_000074 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 2 c.636_637insT r.(?) p.(Arg213Serfs*6) - - - - - - pathogenic g.88940650_88940651insT g.88019498_88019499insT - - PKD2_000084 - PubMed: Zhang 2004 - - Unknown - - - 0 - Johan den Dunnen
+/. 2 c.636_637insT r.(?) p.(Arg213Serfs*6) - - - - - - pathogenic (dominant) g.88940650_88940651insT g.88019498_88019499insT 636_637insT - PKD2_000084 definitely pathogenic in ADPKDdb; 2 families reported in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/+ 2 c.637C>T r.(?) p.(R213*) - - - - - - pathogenic g.88940651C>T g.88019499C>T - - PKD2_000138 - - - - Germline yes - - 0 - Paola Carrera
+/+ 2 c.637C>T r.(?) p.(R213*) - - - - - - pathogenic g.88940651C>T g.88019499C>T - - PKD2_000138 - - - - Germline yes - - 0 - Paola Carrera
+/. 2 c.637del r.(?) p.(Arg213Glufs*20) - - - - - - pathogenic (dominant) g.88940651del g.88019499del 637delC - PKD2_000216 definitely pathogenic in ADPKDdb; 18 families reported in 12 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 2 c.640G>T r.(?) p.(Glu214*) - - - - - - pathogenic g.88940654G>T g.88019502G>T - - PKD2_000129 - PubMed: Bataille 2011 - - Unknown - - - 0 - Johan den Dunnen
+/. 2 c.640G>T r.(?) p.(Glu214*) - - - - - - pathogenic (dominant) g.88940654G>T g.88019502G>T - - PKD2_000129 definitely pathogenic in ADPKDdb; 2 families reported in 3 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 2 c.667del r.(?) p.(Glu223Asnfs*10) - - - - - - pathogenic g.88940681del g.88019529del - - PKD2_000026 - PubMed: Viribay 1997 - - Unknown - - - 0 - Johan den Dunnen
+/. 2 c.667del r.(?) p.(Glu223Asnfs*10) - - - - - - pathogenic (dominant) g.88940681del g.88019529del 667delG - PKD2_000026 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 2 c.681C>A r.(?) p.(Tyr227*) - - - - - - pathogenic g.88940695C>A g.88019543C>A - - PKD2_000088 - PubMed: Chang 2005 - - Unknown - - - 0 - Johan den Dunnen
+/. 2 c.681C>A r.(?) p.(Tyr227*) - - - - - - pathogenic (dominant) g.88940695C>A g.88019543C>A - - PKD2_000088 definitely pathogenic in ADPKDdb; 14 families reported in 6 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 2 c.693dup r.(?) p.(Ile232Hisfs*38) - - - - - - pathogenic g.88940707dup g.88019555dup - - PKD2_000007 - PubMed: Xenophonto 1997 - - Unknown - - - 0 - Johan den Dunnen
+/. 2 c.693dup r.(?) p.(Ile232Hisfs*38) - - - - - - pathogenic (dominant) g.88940707dup g.88019555dup 693_694insC - PKD2_000007 definitely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 2i c.709+1G>A r.spl p.? - - - - - - pathogenic g.88940724G>A g.88019572G>A - - PKD2_000012 - PubMed: Veldhuisen 1997 - - Unknown - - - 0 - Johan den Dunnen
+/. 2i c.709+1G>A r.spl p.? - - - - - - pathogenic (dominant) g.88940724G>A g.88019572G>A - - PKD2_000012 definitely pathogenic in ADPKDdb; 7 families reported in 4 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
+/. 2i c.710-2A>G r.spl p.? - - - - - - pathogenic g.88957370A>G g.88036218A>G - - PKD2_000013 - PubMed: Veldhuisen 1997 - - Unknown - - - 0 - Johan den Dunnen
+/. - c.710-2A>G r.spl? p.? - - - - - - pathogenic g.88957370A>G g.88036218A>G PKD2(NM_000297.3):c.710-2A>G - PKD2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.710-2A>G r.spl? p.? - - - - - - pathogenic g.88957370A>G g.88036218A>G PKD2(NM_000297.3):c.710-2A>G - PKD2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 2i c.710-2A>G r.spl p.? - - - - - - pathogenic (dominant) g.88957370A>G g.88036218A>G - - PKD2_000013 definitely pathogenic in ADPKDdb; 2 families reported in 2 papers copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - 0 - Johan den Dunnen
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