| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| PLEKHG5 V22M | insufficiently evaluated not reviewed | unknown |
| |
| PLEKHG5 V78M | insufficiently evaluated not reviewed, f=0.003 | unknown |
| |
| PLEKHG5 V99M | insufficiently evaluated not reviewed | unknown |
| |
| PLEKHG5 T238S | insufficiently evaluated none | unknown |
| |
| PLEKHG5 G287S | insufficiently evaluated not reviewed, f=0.004 | unknown |
| var-GS19700-1100-36-ASM |
| PLEKHG5 T294S | insufficiently evaluated none, f=0.271 | unknown |
| hu34D5B9 exome |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| var-GS19700-1100-36-ASM |
| var-GS18504-1100-36-ASM |
| var-GS18558-1100-36-ASM |
| CGI sample GS000006909 |
| var-GS19703-1100-36-ASM |
| var-GS12004-1100-36-ASM |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS21767-1100-36-ASM (hom) |
| var-GS19704-1100-36-ASM |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19017-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM (hom) |
| var-GS19649-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS00253-DNA_F01_200_37 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| var-GS19129-1100-36-ASM (hom) |
| var-GS18505-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A02_200_37 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom) |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19026-1100-36-ASM |
| PLEKHG5 T315S | insufficiently evaluated none | unknown |
| |
| PLEKHG5 A340V | insufficiently evaluated none | unknown |
| |
| PLEKHG5 T347P | insufficiently evaluated not reviewed | unknown |
| |
| PLEKHG5 D366N | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| PLEKHG5 A396V | insufficiently evaluated none, f=0.001 | unknown |
| var-GS19238-1100-36-ASM |
| PLEKHG5 T403P | insufficiently evaluated not reviewed | unknown |
| |
| PLEKHG5 A414T | insufficiently evaluated none | unknown |
| |
| PLEKHG5 A417V | insufficiently evaluated none | unknown |
| |
| PLEKHG5 T424P | insufficiently evaluated not reviewed | unknown |
| |
| PLEKHG5 M440V | insufficiently evaluated none | unknown |
| |
| PLEKHG5 A470T | insufficiently evaluated none, f=0.067 | unknown |
| hu34D5B9 exome |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| var-GS12004-1100-36-ASM |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS18502-1100-36-ASM |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| var-GS19129-1100-36-ASM |
| PLEKHG5 A491T | insufficiently evaluated none | unknown |
| |
| PLEKHG5 M496V | insufficiently evaluated none, f=0.061 | unknown |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS19020-1100-36-ASM |
| var-GS18558-1100-36-ASM |
| CGI sample GS000006909 |
| var-GS19239-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS00253-DNA_F01_200_37 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom) |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| PLEKHG5 M517V | insufficiently evaluated none | unknown |
| |
| PLEKHG5 P575R | insufficiently evaluated not reviewed | unknown |
| |
| PLEKHG5 P631R | insufficiently evaluated not reviewed | unknown |
| |
| PLEKHG5 F647S | insufficiently evaluated pathogenic | unknown |
| |
| PLEKHG5 P652R | insufficiently evaluated not reviewed | unknown |
| |
| PLEKHG5 E773K | insufficiently evaluated not reviewed, f=0.016 | unknown |
| var-GS20509-1100-36-ASM (hom) |
| PLEKHG5 EE778Del | insufficiently evaluated not reviewed, f=0.024 | unknown |
| var-GS18501-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| var-GS19240-1100-36-ASM |
| var-GS18517-1100-36-ASM |
| PLEKHG5 E779Del | insufficiently evaluated not reviewed, f=0.024 | unknown |
| var-GS19025-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| hu34D5B9 exome |
| var-GS19700-1100-36-ASM |
| var-GS12004-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| var-GS18508-1100-36-ASM |
| PLEKHG5 T797M | insufficiently evaluated not reviewed | unknown |
| |
| PLEKHG5 G810S | insufficiently evaluated not reviewed | unknown |
| |
| PLEKHG5 T853M | insufficiently evaluated not reviewed | unknown |
| |
| PLEKHG5 G866S | insufficiently evaluated not reviewed, f=0.049 | unknown |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS18558-1100-36-ASM |
| CGI sample GS000006909 |
| var-GS19649-1100-36-ASM |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS00253-DNA_F01_200_37 |
| CGI sample GS00253-DNA_A02_200_37 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom) |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| PLEKHG5 T874M | insufficiently evaluated not reviewed | unknown |
| |
| PLEKHG5 G887S | insufficiently evaluated not reviewed | unknown |
| |
| PLEKHG5 R915H | insufficiently evaluated not reviewed, f=0.025 | unknown |
| var-GS19701-1100-36-ASM |
| var-GS21767-1100-36-ASM |
| PLEKHG5 Q921R | insufficiently evaluated not reviewed, f=0.015 | unknown |
| var-GS19704-1100-36-ASM |
| PLEKHG5 P976L | insufficiently evaluated not reviewed | unknown |
| hu232307 build 36 substitution variants |
| PLEKHG5 G999R | insufficiently evaluated not reviewed, f=0.019 | unknown |
| var-GS21767-1100-36-ASM |
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Total results: 37 |