| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| OTOF P21L | insufficiently evaluated not reviewed | unknown |
(25 web hits) | hu728FFF build 36 substitution variants |
| OTOF I23S | insufficiently evaluated not reviewed | unknown |
| |
| OTOF R26C | insufficiently evaluated not reviewed | unknown |
| |
| OTOF R33Q | insufficiently evaluated none, f=0.007 | unknown |
(3 web hits) | |
| OTOF R49W | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| OTOF P50R | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| OTOF A53V | insufficiently evaluated none, f=0.004 | unknown |
(1 web hit) | var-GS18942-1100-36-ASM |
| var-GS19735-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| var-GS19669-1100-36-ASM (hom) |
| var-GS18956-1100-36-ASM |
| OTOF R75W | insufficiently evaluated not reviewed | unknown |
(14 web hits) | |
| OTOF R82C | insufficiently evaluated none, f=0.365 | unknown |
(15 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 |
| hu34D5B9 exome |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom) |
| var-GS19735-1100-36-ASM (hom) |
| CGI sample GS000006909 |
| CGI sample GS000005532 |
| var-GS19703-1100-36-ASM |
| var-GS12004-1100-36-ASM |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom) |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS10851-1100-36-ASM |
| CGI sample GS00253-DNA_A01_200_37 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS18502-1100-36-ASM |
| var-GS19648-1100-36-ASM |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom) |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS00253-DNA_B01_200_37 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom) |
| var-GS20502-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| CGI sample GS00253-DNA_D01_200_37 |
| CGI sample GS00253-DNA_C01_200_37 |
| var-GS19670-1100-36-ASM |
| var-GS06994-1100-36-ASM |
| CGI sample GS00253-DNA_H01_200_37 |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS18508-1100-36-ASM |
| var-GS19669-1100-36-ASM (hom) |
| var-GS20509-1100-36-ASM |
| var-GS06985-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| OTOF R83C | insufficiently evaluated not reviewed | unknown |
| |
| OTOF R132W | insufficiently evaluated not reviewed | unknown |
| |
| OTOF R169W | insufficiently evaluated none, f=0.007 | unknown |
(1 web hit) | var-GS18517-1100-36-ASM |
| OTOF I284V | insufficiently evaluated not reviewed | unknown |
| |
| OTOF F303L | insufficiently evaluated not reviewed | unknown |
| CGI sample GS00253-DNA_E01_200_37 |
| CGI sample GS000006909 |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| CGI sample GS00253-DNA_G01_200_37 |
| CGI sample GS00253-DNA_A01_200_37 |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| 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 GS00253-DNA_F01_200_37 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| CGI sample GS00253-DNA_C01_200_37 |
| CGI sample GS00253-DNA_H01_200_37 |
| OTOF D304Y | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| CGI sample GS00253-DNA_A01_200_37 |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| CGI sample GS00253-DNA_B01_200_37 |
| CGI sample GS00253-DNA_F01_200_37 |
| CGI sample GS00253-DNA_C01_200_37 |
| OTOF A336P | insufficiently evaluated not reviewed | unknown |
| |
| OTOF I341V | insufficiently evaluated not reviewed | unknown |
(4 web hits) | |
| OTOF S346L | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| OTOF A393P | insufficiently evaluated not reviewed | unknown |
| |
| OTOF N456S | insufficiently evaluated none | unknown |
| |
| OTOF N513S | insufficiently evaluated none | unknown |
| |
| OTOF I515T | insufficiently evaluated pathogenic | unknown |
(15 web hits) | |
| OTOF T547M | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS19649-1100-36-ASM |
| OTOF G560W | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| OTOF V575M | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| OTOF Y730X | insufficiently evaluated pathogenic | unknown |
(6 web hits) | |
| OTOF G741V | insufficiently evaluated not reviewed | unknown |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| OTOF R773C | uncertain benign, f=0.016 | unknown | Presumed benign. Seen in 2.4% of randomly chosen chromosomes, contradicting a severe pathogenic hypothesis.
| var-GS19700-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| CGI sample GS00253-DNA_F01_200_37 |
| OTOF R792W | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| OTOF E801L | insufficiently evaluated not reviewed, f=0.024 | unknown |
| var-GS19704-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| OTOF R822W | uncertain benign, f=0.018 | undefined | Rare variant, reported as a polymorphism also found in controls. Other severe variants in this gene are reported to cause autosomal recessive non-syndromic deafness.
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| CGI sample GS00253-DNA_D01_200_37 |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| OTOF Q829X | insufficiently evaluated pathogenic | unknown |
(194 web hits) | |
| OTOF P879S | insufficiently evaluated none | unknown |
(3 web hits) | |
| OTOF P956S | insufficiently evaluated none | unknown |
(3 web hits) | |
| OTOF A975T | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19026-1100-36-ASM |
| OTOF L1011P | insufficiently evaluated pathogenic | unknown |
(8 web hits) | |
| OTOF R1026W | insufficiently evaluated not reviewed, f=0.004 | unknown |
| var-GS18508-1100-36-ASM |
| OTOF I1031V | insufficiently evaluated not reviewed, f=0.000 | unknown |
| |
| OTOF R1068H | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS19025-1100-36-ASM |
| OTOF A1083P | insufficiently evaluated not reviewed, f=0.018 | unknown |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| var-GS18502-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| OTOF R1086Q | insufficiently evaluated none | unknown |
| |
| OTOF R1157Q | insufficiently evaluated not reviewed, f=0.011 | unknown |
| var-GS20502-1100-36-ASM |
| OTOF R1163Q | insufficiently evaluated none | unknown |
| |
| OTOF N1203S | insufficiently evaluated none, f=0.020 | unknown |
| var-GS21767-1100-36-ASM |
| var-GS19704-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19017-1100-36-ASM |
| var-GS19129-1100-36-ASM |
| OTOF R1250H | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19239-1100-36-ASM |
| OTOF C1251G | insufficiently evaluated not reviewed, f=0.013 | unknown |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS20509-1100-36-ASM |
| OTOF G1364V | insufficiently evaluated not reviewed, f=0.001 | unknown |
| var-GS18502-1100-36-ASM |
| OTOF P1646S | insufficiently evaluated none, f=0.161 | unknown |
(3 web hits) | var-GS19020-1100-36-ASM (hom) |
| var-GS19700-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM (hom) |
| var-GS19703-1100-36-ASM |
| var-GS19704-1100-36-ASM (hom) |
| var-GS19834-1100-36-ASM |
| var-GS19017-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS19129-1100-36-ASM |
| var-GS19240-1100-36-ASM |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM (hom) |
| var-GS18508-1100-36-ASM |
| var-GS18517-1100-36-ASM |
| OTOF P1825A | insufficiently evaluated pathogenic | unknown |
(10 web hits) | |
| OTOF R1853Q | insufficiently evaluated none, f=0.006 | unknown |
| |
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Total results: 50 |