| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| LEPR Q23R | insufficiently evaluated pathogenic | unknown |
(9 web hits) | |
| LEPR K109R | insufficiently evaluated not reviewed, f=0.231 | unknown |
(139 web hits) | CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom) |
| var-GS18942-1100-36-ASM |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| var-GS18558-1100-36-ASM (hom) |
| var-GS19735-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS000006909 (hom) |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| var-GS12004-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS10851-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A01_200_37 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS19834-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| var-GS18555-1100-36-ASM (hom) |
| var-GS18537-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS00253-DNA_B01_200_37 |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| CGI sample GS00253-DNA_D01_200_37 |
| CGI sample GS00253-DNA_C01_200_37 (hom) |
| var-GS18526-1100-36-ASM (hom) |
| var-GS18947-1100-36-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 |
| var-GS20509-1100-36-ASM |
| var-GS18940-1100-36-ASM |
| var-GS18956-1100-36-ASM (hom) |
| LEPR V168A | insufficiently evaluated not reviewed | unknown |
| |
| LEPR Q223R | insufficiently evaluated not reviewed, f=0.486 | unknown |
(432 web hits) | CGI sample GS00253-DNA_E01_200_37 |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom) |
| var-GS19025-1100-36-ASM |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| 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 |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| var-GS19700-1100-36-ASM (hom) |
| 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 |
| CGI sample GS000006909 (hom) |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| CGI sample GS000005532 |
| 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 |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| var-GS19701-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS21767-1100-36-ASM |
| 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 |
| var-GS19834-1100-36-ASM (hom) |
| var-GS19239-1100-36-ASM |
| var-GS19017-1100-36-ASM |
| var-GS18502-1100-36-ASM (hom) |
| var-GS19649-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| var-GS19648-1100-36-ASM |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_B02_200_37 (hom) |
| CGI sample GS00253-DNA_B01_200_37 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| 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) |
| CGI sample GS00253-DNA_C01_200_37 (hom) |
| var-GS18526-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants |
| var-GS18947-1100-36-ASM (hom) |
| var-GS18505-1100-36-ASM |
| var-GS19238-1100-36-ASM |
| 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 |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS18508-1100-36-ASM |
| var-GS19669-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| var-GS20509-1100-36-ASM |
| var-GS18940-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| var-GS18956-1100-36-ASM (hom) |
| LEPR V344I | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| LEPR K656N | insufficiently evaluated not reviewed, f=0.176 | unknown |
(90 web hits) | CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| var-GS18942-1100-36-ASM |
| var-GS19020-1100-36-ASM |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| hu232307 build 36 substitution variants |
| var-GS19701-1100-36-ASM |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS21767-1100-36-ASM |
| var-GS19704-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| var-GS19129-1100-36-ASM |
| var-GS18505-1100-36-ASM |
| var-GS06994-1100-36-ASM |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| var-GS18508-1100-36-ASM |
| var-GS18940-1100-36-ASM |
| var-GS18517-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| LEPR T699M | insufficiently evaluated not reviewed, f=0.013 | unknown |
| var-GS19026-1100-36-ASM |
| LEPRE1 A47S | insufficiently evaluated none, f=0.044 | unknown |
| hu728FFF build 36 substitution variants (hom) |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| LEPRE1 P204H | insufficiently evaluated none, f=0.007 | unknown |
| var-GS19129-1100-36-ASM |
| LEPRE1 R243C | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS18502-1100-36-ASM |
| LEPRE1 G349R | insufficiently evaluated not reviewed, f=0.065 | unknown |
(5 web hits) | var-GS19025-1100-36-ASM |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS19700-1100-36-ASM |
| var-GS18501-1100-36-ASM |
| var-GS21767-1100-36-ASM |
| var-GS19704-1100-36-ASM |
| var-GS10851-1100-36-ASM |
| hu728FFF build 36 substitution variants |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS19669-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| LEPRE1 R368X | insufficiently evaluated pathogenic | unknown |
| |
| LEPRE1 D441V | insufficiently evaluated not reviewed | unknown |
| |
| LEPRE1 M549I | insufficiently evaluated none, f=0.063 | unknown |
(1 web hit) | PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS18501-1100-36-ASM |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| var-GS19670-1100-36-ASM |
| CGI sample GS00253-DNA_A02_200_37 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| var-GS20509-1100-36-ASM |
| LEPRE1 Y552X | insufficiently evaluated pathogenic | unknown |
| |
| LEPRE1 Q644K | insufficiently evaluated none, f=0.000 | unknown |
(1 web hit) | |
| LEPRE1 A691V | insufficiently evaluated none | unknown |
(1 web hit) | |
| LEPREL1 Q4H | insufficiently evaluated not reviewed | unknown |
| |
| LEPREL1 LL11P | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| LEPREL1 R127C | insufficiently evaluated none, f=0.023 | unknown |
| var-GS19020-1100-36-ASM |
| var-GS19700-1100-36-ASM |
| var-GS19703-1100-36-ASM |
| var-GS19704-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| var-GS18517-1100-36-ASM |
| LEPREL1 T173R | insufficiently evaluated not reviewed | unknown |
| hu34D5B9 exome |
| LEPREL1 Q185H | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS20502-1100-36-ASM |
| CGI sample GS00253-DNA_H01_200_37 |
| LEPREL1 G414R | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| LEPREL2 T313P | insufficiently evaluated not reviewed | unknown |
| |
| LEPREL2 R366Q | insufficiently evaluated none | unknown |
| |
| LEPREL2 G385E | insufficiently evaluated none | unknown |
| |
| LEPREL2 R514Q | insufficiently evaluated not reviewed | unknown |
| |
| LEPREL2 R519L | insufficiently evaluated none | unknown |
| |
| LEPREL2 X685Q | insufficiently evaluated not reviewed | unknown |
| hu728FFF build 36 substitution variants |
| LEPREL2 C705R | insufficiently evaluated none | unknown |
| |
| LEPREL4 Q186R | insufficiently evaluated not reviewed, f=0.319 | unknown |
| CGI sample GS00253-DNA_E01_200_37 |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| var-GS19025-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| hu3215A7 build 36 substitution variants |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| var-GS18501-1100-36-ASM |
| var-GS19735-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| var-GS07357-1100-36-ASM |
| hu232307 build 36 substitution variants |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| CGI sample GS00253-DNA_G01_200_37 |
| var-GS19701-1100-36-ASM |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS19704-1100-36-ASM |
| var-GS10851-1100-36-ASM |
| var-GS19239-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM |
| var-GS18555-1100-36-ASM |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS18537-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| CGI sample GS00253-DNA_D01_200_37 |
| var-GS19240-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants (hom) |
| var-GS18947-1100-36-ASM |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom) |
| var-GS19669-1100-36-ASM (hom) |
| var-GS18940-1100-36-ASM (hom) |
| var-GS06985-1100-36-ASM |
| LEPREL4 P421L | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS21767-1100-36-ASM |
| LEPROTL1 M94I | insufficiently evaluated not reviewed, f=0.014 | unknown |
| var-GS19704-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| LEPROTL1 E107D | insufficiently evaluated not reviewed, f=0.016 | unknown |
| var-GS19703-1100-36-ASM |
| var-GS18508-1100-36-ASM (hom) |
| LEPROTL1 V139M | insufficiently evaluated not reviewed, f=0.014 | unknown |
| var-GS19704-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
Page: 1 2 3 4
Total results: 35 |