| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| RANBP2 N75K | insufficiently evaluated not reviewed, f=0.003 | unknown |
| var-GS18505-1100-36-ASM |
| RANBP2 D77E | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| RANBP2 S255N | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| RANBP2 L272F | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| RANBP2 R412Q | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| RANBP2 T420A | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| RANBP2 E580K | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| RANBP2 C581Y | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| RANBP2 T585M | insufficiently evaluated pathogenic | unknown |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| RANBP2 T653I | insufficiently evaluated pathogenic | unknown |
| |
| RANBP2 I656V | insufficiently evaluated pathogenic | unknown |
| |
| RANBP2 K708R | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| RANBP2 R712T | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| RANBP2 D716G | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 |
| RANBP2 S748L | insufficiently evaluated not reviewed | unknown |
| hu232307 build 36 substitution variants |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| RANBP2 H777R | insufficiently evaluated none, f=0.022 | unknown |
| hu3215A7 build 36 substitution variants (hom) |
| RANBP2 P780L | insufficiently evaluated not reviewed, f=0.006 | unknown |
| CGI sample GS00253-DNA_A02_200_37 |
| RANBP2 M933L | insufficiently evaluated not reviewed | unknown |
| |
| RANBP2 K1121N | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS19020-1100-36-ASM |
| RANBP2 H1154L | insufficiently evaluated not reviewed, f=0.004 | unknown |
| var-GS19703-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| RANBP2 T1576S | insufficiently evaluated none, f=0.006 | unknown |
| CGI sample GS00253-DNA_B02_200_37 |
| var-GS19129-1100-36-ASM |
| RANBP2 N1854S | insufficiently evaluated not reviewed, f=0.001 | unknown |
| var-GS21767-1100-36-ASM |
| RANBP2 L1950V | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| hu34D5B9 exome |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| RANBP2 S1981T | insufficiently evaluated not reviewed, f=0.010 | unknown |
| hu232307 build 36 substitution variants |
| RANBP2 L2071P | insufficiently evaluated not reviewed | unknown |
| hu34D5B9 exome |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| RANBP2 E2078D | insufficiently evaluated not reviewed | unknown |
| hu34D5B9 exome |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| RANBP2 T2391S | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| RANBP2 T2492A | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| RANBP2 E2496V | insufficiently evaluated none | unknown |
| |
| RANBP2 P2505T | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| RANBP2 N2557S | insufficiently evaluated none, f=0.002 | unknown |
| |
| RANBP2 I2585T | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| RANBP2 G2692D | insufficiently evaluated none, f=0.001 | unknown |
(1 web hit) | CGI sample GS00253-DNA_A01_200_37 |
| RANBP2 I2803V | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| RANBP2 R3097Shift | insufficiently evaluated not reviewed, f=0.008 | unknown |
| |
Page: 1 2 3 4
Total results: 35 |