| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| PKD2 R28P | insufficiently evaluated none, f=0.099 | unknown |
(17 web hits) | CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| PKD2 S39G | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| PKD2 E102Del | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| PKD2 A190T | insufficiently evaluated benign, f=0.003 | dominant | Reported causative for polycystic kidney disease, but later reports claim that it is benign.
(4 web hits) | CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| var-GS18558-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| var-GS18526-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_H01_200_37 |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom) |
| var-GS18956-1100-36-ASM |
| PKD2 W380X | insufficiently evaluated pathogenic | unknown |
(3 web hits) | |
| PKD2 Q405X | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
| PKD2 I452V | insufficiently evaluated none, f=0.000 | unknown |
| |
| PKD2 R464X | insufficiently evaluated pathogenic | unknown |
(4 web hits) | |
| PKD2 D511V | insufficiently evaluated pathogenic | unknown |
(52 web hits) | |
| PKD2 R742X | insufficiently evaluated pathogenic | unknown |
(96 web hits) | |
| PKD2 M800L | insufficiently evaluated not reviewed | unknown |
| hu34D5B9 exome |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| PKD2 S804N | pathogenic, f=0.003 | dominant | Predicted to cause autosomal dominant polycystic kidney disease, but without control allele frequency the report cannot be tested for statistical significance.
(1 web hit) | CGI sample GS00253-DNA_B02_200_37 |
| PKD2L1 G76C | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| PKD2L1 I108T | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| PKD2L1 R206H | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS18505-1100-36-ASM |
| PKD2L1 R278Q | insufficiently evaluated none, f=0.050 | unknown |
| var-GS19020-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM |
| var-GS19703-1100-36-ASM |
| var-GS21767-1100-36-ASM |
| var-GS19017-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| var-GS19129-1100-36-ASM |
| var-GS19240-1100-36-ASM |
| var-GS18505-1100-36-ASM |
| var-GS19238-1100-36-ASM (hom) |
| PKD2L1 R378W | insufficiently evaluated none, f=0.058 | unknown |
| var-GS19020-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM |
| var-GS19703-1100-36-ASM |
| var-GS21767-1100-36-ASM |
| var-GS19704-1100-36-ASM |
| var-GS19017-1100-36-ASM |
| var-GS19129-1100-36-ASM (hom) |
| var-GS19240-1100-36-ASM |
| var-GS18505-1100-36-ASM |
| var-GS19238-1100-36-ASM (hom) |
| PKD2L1 V393I | insufficiently evaluated none, f=0.104 | unknown |
| var-GS19700-1100-36-ASM |
| hu232307 build 36 substitution variants |
| var-GS19701-1100-36-ASM |
| var-GS21767-1100-36-ASM |
| var-GS19834-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS18526-1100-36-ASM |
| PKD2L1 R407X | insufficiently evaluated none, f=0.058 | unknown |
| var-GS19020-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM |
| var-GS19703-1100-36-ASM |
| var-GS21767-1100-36-ASM |
| var-GS19704-1100-36-ASM |
| var-GS19017-1100-36-ASM |
| var-GS19129-1100-36-ASM (hom) |
| var-GS19240-1100-36-ASM |
| var-GS18505-1100-36-ASM |
| var-GS19238-1100-36-ASM (hom) |
| PKD2L1 A449T | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| PKD2L1 M555I | insufficiently evaluated not reviewed, f=0.001 | unknown |
| |
| PKD2L1 Y564C | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19649-1100-36-ASM |
| PKD2L1 K656E | insufficiently evaluated none, f=0.001 | unknown |
| var-GS18526-1100-36-ASM |
| var-GS18940-1100-36-ASM |
| PKD2L1 Q658L | insufficiently evaluated not reviewed, f=0.010 | unknown |
| var-GS19700-1100-36-ASM |
| var-GS18504-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| PKD2L1 R681L | insufficiently evaluated none, f=0.068 | unknown |
| var-GS18504-1100-36-ASM |
| var-GS07357-1100-36-ASM |
| hu232307 build 36 substitution variants |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| var-GS19701-1100-36-ASM |
| var-GS21767-1100-36-ASM |
| var-GS19834-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| PKD2L1 A788D | insufficiently evaluated not reviewed, f=0.061 | unknown |
(5 web hits) | var-GS18504-1100-36-ASM |
| var-GS07357-1100-36-ASM |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| var-GS19701-1100-36-ASM |
| var-GS21767-1100-36-ASM |
| var-GS19834-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM |
| PKD2L2 V404I | insufficiently evaluated none, f=0.733 | unknown |
| CGI sample GS00253-DNA_E01_200_37 (hom) |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom) |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| var-GS19025-1100-36-ASM |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom) |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome |
| hu3215A7 build 36 substitution variants |
| var-GS18942-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom) |
| var-GS19020-1100-36-ASM |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom) |
| var-GS19700-1100-36-ASM |
| var-GS18501-1100-36-ASM |
| var-GS18504-1100-36-ASM |
| var-GS18558-1100-36-ASM (hom) |
| var-GS19735-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom) |
| CGI sample GS000006909 |
| var-GS07357-1100-36-ASM |
| CGI sample GS000005532 (hom) |
| hu232307 build 36 substitution variants (hom) |
| var-GS12004-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom) |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| var-GS19701-1100-36-ASM |
| var-GS21767-1100-36-ASM (hom) |
| var-GS19704-1100-36-ASM |
| var-GS10851-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A01_200_37 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom) |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM (hom) |
| var-GS19017-1100-36-ASM |
| var-GS18502-1100-36-ASM (hom) |
| var-GS19649-1100-36-ASM |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| var-GS19648-1100-36-ASM (hom) |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom) |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| CGI sample GS00253-DNA_F01_200_37 (hom) |
| var-GS20502-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| var-GS19129-1100-36-ASM |
| CGI sample GS00253-DNA_D01_200_37 |
| var-GS19240-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_C01_200_37 (hom) |
| var-GS18526-1100-36-ASM |
| hu728FFF build 36 substitution variants (hom) |
| var-GS18947-1100-36-ASM (hom) |
| var-GS18505-1100-36-ASM |
| var-GS19238-1100-36-ASM (hom) |
| var-GS19670-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A02_200_37 |
| var-GS06994-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_H01_200_37 |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom) |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom) |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19669-1100-36-ASM (hom) |
| var-GS19026-1100-36-ASM (hom) |
| var-GS20509-1100-36-ASM |
| var-GS18940-1100-36-ASM (hom) |
| var-GS06985-1100-36-ASM |
| var-GS18956-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| PKD2L2 P464L | insufficiently evaluated none, f=0.004 | unknown |
| var-GS19129-1100-36-ASM |
| var-GS18505-1100-36-ASM |
| PKD2L2 L507P | insufficiently evaluated none, f=0.979 | unknown |
| CGI sample GS00253-DNA_E01_200_37 (hom) |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom) |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom) |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom) |
| var-GS19025-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom) |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom) |
| hu34D5B9 exome (hom) |
| hu3215A7 build 36 substitution variants (hom) |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom) |
| var-GS18942-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom) |
| var-GS19020-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom) |
| var-GS19700-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM (hom) |
| var-GS18504-1100-36-ASM |
| var-GS18558-1100-36-ASM (hom) |
| var-GS19735-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom) |
| CGI sample GS000006909 (hom) |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom) |
| var-GS07357-1100-36-ASM (hom) |
| CGI sample GS000005532 (hom) |
| hu232307 build 36 substitution variants (hom) |
| var-GS12004-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom) |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| var-GS19701-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom) |
| var-GS21767-1100-36-ASM (hom) |
| var-GS19704-1100-36-ASM (hom) |
| var-GS10851-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A01_200_37 (hom) |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom) |
| var-GS19834-1100-36-ASM (hom) |
| var-GS19239-1100-36-ASM (hom) |
| var-GS19017-1100-36-ASM |
| var-GS18502-1100-36-ASM (hom) |
| var-GS19649-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| var-GS19648-1100-36-ASM (hom) |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom) |
| CGI sample GS00253-DNA_B02_200_37 (hom) |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS00253-DNA_B01_200_37 (hom) |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom) |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom) |
| CGI sample GS00253-DNA_F01_200_37 (hom) |
| var-GS20502-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| var-GS19129-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| var-GS19240-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_C01_200_37 (hom) |
| var-GS18526-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants (hom) |
| var-GS18947-1100-36-ASM (hom) |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM (hom) |
| var-GS19670-1100-36-ASM (hom) |
| var-GS06994-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_H01_200_37 (hom) |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom) |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom) |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom) |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom) |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom) |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19669-1100-36-ASM (hom) |
| var-GS19026-1100-36-ASM (hom) |
| var-GS20509-1100-36-ASM (hom) |
| var-GS18940-1100-36-ASM (hom) |
| var-GS06985-1100-36-ASM (hom) |
| var-GS18956-1100-36-ASM (hom) |
| var-GS18517-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
Page: 1 2 3
Total results: 29 |