NM_001195263.2(PDZD7):c.2194_2203del (p.Cys732fs) |
deletion |
Usher syndrome, type IIC, GPR98/PDZD7 digenic [RCV000023975] |
Chr10:101010686..101010695 [GRCh38] Chr10:102770443..102770452 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV000656350] |
Chr10:101021811 [GRCh38] Chr10:102781568 [GRCh37] Chr10:10q24.31 |
pathogenic|likely pathogenic |
NM_001195263.2(PDZD7):c.244G>A (p.Asp82Asn) |
single nucleotide variant |
not provided [RCV000520171] |
Chr10:101024051 [GRCh38] Chr10:102783808 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs) |
duplication |
Hearing loss, autosomal recessive 57 [RCV000656379]|Usher syndrome type 2A [RCV000023974]|not provided [RCV001008540] |
Chr10:101030053..101030054 [GRCh38] Chr10:102789810..102789811 [GRCh37] Chr10:10q24.31 |
pathogenic|risk factor |
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=) |
single nucleotide variant |
Usher syndrome type 2C [RCV002490540]|not provided [RCV001518729]|not specified [RCV000039450] |
Chr10:101019135 [GRCh38] Chr10:102778892 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1447G>A (p.Asp483Asn) |
single nucleotide variant |
not provided [RCV000970867]|not specified [RCV000039451] |
Chr10:101018174 [GRCh38] Chr10:102777931 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.156C>T (p.Asn52=) |
single nucleotide variant |
not provided [RCV000879616]|not specified [RCV000039452] |
Chr10:101030064 [GRCh38] Chr10:102789821 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.159G>C (p.Gly53=) |
single nucleotide variant |
not provided [RCV000712517]|not specified [RCV000039453] |
Chr10:101030061 [GRCh38] Chr10:102789818 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.306C>T (p.Arg102=) |
single nucleotide variant |
not provided [RCV002054762]|not specified [RCV000039454] |
Chr10:101023989 [GRCh38] Chr10:102783746 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.367+7A>G |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV001787834]|Usher syndrome type 2C [RCV001787833]|not provided [RCV000842815]|not specified [RCV000039455] |
Chr10:101023921 [GRCh38] Chr10:102783678 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.936C>T (p.Asn312=) |
single nucleotide variant |
not provided [RCV000992517]|not specified [RCV000039456] |
Chr10:101019210 [GRCh38] Chr10:102778967 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) |
single nucleotide variant |
not provided [RCV000969791]|not specified [RCV000037095] |
Chr10:101015772 [GRCh38] Chr10:102775529 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.2049G>A (p.Pro683=) |
single nucleotide variant |
not provided [RCV000712518]|not specified [RCV000037096] |
Chr10:101010840 [GRCh38] Chr10:102770597 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) |
deletion |
Hearing loss, autosomal recessive 57 [RCV000656355]|PDZD7-related condition [RCV003398601]|Rare genetic deafness [RCV000037097]|Usher syndrome type 2C [RCV002490502]|Usher syndrome, type IIC, GPR98/PDZD7 digenic [RCV001849292]|not provided [RCV000599609] |
Chr10:101010782 [GRCh38] Chr10:102770539 [GRCh37] Chr10:10q24.31 |
pathogenic|likely pathogenic|uncertain significance |
NM_001195263.2(PDZD7):c.2132A>G (p.His711Arg) |
single nucleotide variant |
not provided [RCV000712519]|not specified [RCV000037098] |
Chr10:101010757 [GRCh38] Chr10:102770514 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) |
single nucleotide variant |
not provided [RCV000954274]|not specified [RCV000037099] |
Chr10:101010745 [GRCh38] Chr10:102770502 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV001787826]|Usher syndrome type 2C [RCV001787825]|not provided [RCV000835644]|not specified [RCV000037100] |
Chr10:101010570 [GRCh38] Chr10:102770327 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) |
deletion |
not provided [RCV000971055]|not specified [RCV000037101] |
Chr10:101010553..101010570 [GRCh38] Chr10:102770310..102770327 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7]) |
microsatellite |
Hearing loss, autosomal recessive 57 [RCV001787828]|Usher syndrome type 2C [RCV001787827]|not provided [RCV000835645]|not specified [RCV000037102] |
Chr10:101010536..101010537 [GRCh38] Chr10:102770293..102770294 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2368A>G (p.Lys790Glu) |
single nucleotide variant |
not provided [RCV000712520]|not specified [RCV000037103] |
Chr10:101010521 [GRCh38] Chr10:102770278 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val) |
single nucleotide variant |
not provided [RCV001463957]|not specified [RCV000037104] |
Chr10:101010478 [GRCh38] Chr10:102770235 [GRCh37] Chr10:10q24.31 |
likely benign|uncertain significance |
NM_001195263.2(PDZD7):c.2564A>C (p.Asn855Thr) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV001787830]|Usher syndrome type 2C [RCV001787829]|not provided [RCV000842692]|not specified [RCV000037105] |
Chr10:101010325 [GRCh38] Chr10:102770082 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del) |
microsatellite |
Hearing loss, autosomal recessive 57 [RCV001786330]|not provided [RCV002513457]|not specified [RCV000037107] |
Chr10:101009291..101009293 [GRCh38] Chr10:102769048..102769050 [GRCh37] Chr10:10q24.31 |
pathogenic|likely pathogenic|uncertain significance |
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 |
copy number gain |
See cases [RCV000050747] |
Chr10:95112607..116776637 [GRCh38] Chr10:96872364..118383651 [GRCh37] Chr10:96862354..118526138 [NCBI36] Chr10:10q23.33-25.3 |
pathogenic |
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 |
copy number loss |
See cases [RCV000052565] |
Chr10:93181201..101356779 [GRCh38] Chr10:94940958..103116536 [GRCh37] Chr10:94930948..103106526 [NCBI36] Chr10:10q23.33-24.32 |
pathogenic |
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] |
Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3 |
pathogenic |
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 |
copy number gain |
See cases [RCV000053564] |
Chr10:100194215..132432797 [GRCh38] Chr10:101953972..134246301 [GRCh37] Chr10:101943962..134096291 [NCBI36] Chr10:10q24.31-26.3 |
pathogenic |
NM_001195263.2(PDZD7):c.1752T>C (p.Tyr584=) |
single nucleotide variant |
not provided [RCV001512703]|not specified [RCV000174295] |
Chr10:101012256 [GRCh38] Chr10:102772013 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.3092G>A (p.Arg1031His) |
single nucleotide variant |
not provided [RCV000842000]|not specified [RCV000175157] |
Chr10:101008477 [GRCh38] Chr10:102768234 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.1(PDZD7):c.2352_2353insCGCAGC (p.Ser784_Ser785insArgSer) |
insertion |
not specified [RCV000174868] |
Chr10:101010536..101010537 [GRCh38] Chr10:102770293..102770294 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.516C>G (p.Ile172Met) |
single nucleotide variant |
not provided [RCV001348090] |
Chr10:101023462 [GRCh38] Chr10:102783219 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) |
single nucleotide variant |
not provided [RCV000880900]|not specified [RCV000178837] |
Chr10:101022356 [GRCh38] Chr10:102782113 [GRCh37] Chr10:10q24.31 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001195263.2(PDZD7):c.1342AAG[1] (p.Lys449del) |
microsatellite |
not provided [RCV001348676] |
Chr10:101018274..101018276 [GRCh38] Chr10:102778031..102778033 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2360G>A (p.Gly787Asp) |
single nucleotide variant |
not provided [RCV001348483] |
Chr10:101010529 [GRCh38] Chr10:102770286 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1638T>C (p.Asn546=) |
single nucleotide variant |
not provided [RCV000174050] |
Chr10:101015747 [GRCh38] Chr10:102775504 [GRCh37] Chr10:10q24.31 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001195263.2(PDZD7):c.2438A>C (p.His813Pro) |
single nucleotide variant |
not provided [RCV000174867] |
Chr10:101010451 [GRCh38] Chr10:102770208 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2719-9C>A |
single nucleotide variant |
not provided [RCV000175156] |
Chr10:101008859 [GRCh38] Chr10:102768616 [GRCh37] Chr10:10q24.31 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 |
copy number gain |
See cases [RCV000137747] |
Chr10:100600492..133622588 [GRCh38] Chr10:102360249..135436092 [GRCh37] Chr10:102350239..135286082 [NCBI36] Chr10:10q24.31-26.3 |
pathogenic |
NM_001195263.2(PDZD7):c.2331_2348del (p.773_774RS[3]) |
deletion |
not provided [RCV001610458]|not specified [RCV000151644] |
Chr10:101010541..101010558 [GRCh38] Chr10:102770298..102770315 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln) |
single nucleotide variant |
not provided [RCV001432330]|not specified [RCV000155272] |
Chr10:101010532 [GRCh38] Chr10:102770289 [GRCh37] Chr10:10q24.31 |
likely benign|conflicting interpretations of pathogenicity |
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) |
single nucleotide variant |
not provided [RCV000959918]|not specified [RCV000155273] |
Chr10:101019138 [GRCh38] Chr10:102778895 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.2538G>C (p.Gly846=) |
single nucleotide variant |
not provided [RCV001513125]|not specified [RCV000151643] |
Chr10:101010351 [GRCh38] Chr10:102770108 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.2157C>T (p.Asp719=) |
single nucleotide variant |
not provided [RCV000888755]|not specified [RCV000151645] |
Chr10:101010732 [GRCh38] Chr10:102770489 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn) |
single nucleotide variant |
not provided [RCV000891881]|not specified [RCV000151646] |
Chr10:101019175 [GRCh38] Chr10:102778932 [GRCh37] Chr10:10q24.31 |
likely benign|uncertain significance |
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) |
deletion |
not provided [RCV000723969]|not specified [RCV000155451] |
Chr10:101018271..101018273 [GRCh38] Chr10:102778028..102778030 [GRCh37] Chr10:10q24.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln) |
single nucleotide variant |
Usher syndrome type 2C [RCV000763639]|not provided [RCV000179818] |
Chr10:101020668 [GRCh38] Chr10:102780425 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.928+20del |
deletion |
Hearing loss, autosomal recessive 57 [RCV001788105]|Usher syndrome type 2C [RCV001788104]|not provided [RCV000842816]|not specified [RCV000251422] |
Chr10:101020598 [GRCh38] Chr10:102780355 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.782C>T (p.Ala261Val) |
single nucleotide variant |
not provided [RCV000520320] |
Chr10:101021883 [GRCh38] Chr10:102781640 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1267G>A (p.Ala423Thr) |
single nucleotide variant |
Hearing loss, autosomal recessive [RCV002471111]|not provided [RCV001493941] |
Chr10:101018879 [GRCh38] Chr10:102778636 [GRCh37] Chr10:10q24.31 |
likely benign|uncertain significance |
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys) |
single nucleotide variant |
not provided [RCV000724999] |
Chr10:101010639 [GRCh38] Chr10:102770396 [GRCh37] Chr10:10q24.31 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001195263.2(PDZD7):c.1079G>A (p.Gly360Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003278731]|not provided [RCV000299346] |
Chr10:101019067 [GRCh38] Chr10:102778824 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1522+207_1522+215del |
microsatellite |
not provided [RCV001574514] |
Chr10:101017884..101017892 [GRCh38] Chr10:102777641..102777649 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1031C>T (p.Ser344Leu) |
single nucleotide variant |
not provided [RCV001368153] |
Chr10:101019115 [GRCh38] Chr10:102778872 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.785A>G (p.Asn262Ser) |
single nucleotide variant |
not provided [RCV003315068] |
Chr10:101021880 [GRCh38] Chr10:102781637 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1982G>A (p.Arg661His) |
single nucleotide variant |
not provided [RCV000522962] |
Chr10:101011713 [GRCh38] Chr10:102771470 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV000656356] |
Chr10:101030023 [GRCh38] Chr10:102789780 [GRCh37] Chr10:10q24.31 |
pathogenic|uncertain significance |
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV000656353]|PDZD7-related condition [RCV003403513]|not provided [RCV002536314] |
Chr10:101022246 [GRCh38] Chr10:102782003 [GRCh37] Chr10:10q24.31 |
pathogenic|likely pathogenic|uncertain significance |
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV000656351] |
Chr10:101018121 [GRCh38] Chr10:102777878 [GRCh37] Chr10:10q24.31 |
pathogenic|likely pathogenic |
NM_001195263.2(PDZD7):c.1522+186_1522+215del |
deletion |
not provided [RCV001572068] |
Chr10:101017884..101017913 [GRCh38] Chr10:102777641..102777670 [GRCh37] Chr10:10q24.31 |
likely benign |
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 |
copy number gain |
See cases [RCV000446733] |
Chr10:100780957..135427143 [GRCh37] Chr10:10q24.2-26.3 |
pathogenic |
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] |
Chr10:85557432..105804295 [GRCh37] Chr10:10q23.1-25.1 |
pathogenic|drug response |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 |
copy number gain |
See cases [RCV000448750] |
Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_001195263.2(PDZD7):c.2348G>A (p.Arg783His) |
single nucleotide variant |
not provided [RCV000484429] |
Chr10:101010541 [GRCh38] Chr10:102770298 [GRCh37] Chr10:10q24.31 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) |
copy number gain |
See cases [RCV000511389] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
NM_001195263.2(PDZD7):c.2481T>G (p.Asp827Glu) |
single nucleotide variant |
not provided [RCV000493093] |
Chr10:101010408 [GRCh38] Chr10:102770165 [GRCh37] Chr10:10q24.31 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 |
copy number gain |
See cases [RCV000510972] |
Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3 |
pathogenic |
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV000656349]|not provided [RCV001051892] |
Chr10:101023988 [GRCh38] Chr10:102783745 [GRCh37] Chr10:10q24.31 |
pathogenic|likely pathogenic |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] |
Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
NM_001195263.2(PDZD7):c.1207del (p.His403fs) |
deletion |
Hearing loss, autosomal recessive 57 [RCV000656357] |
Chr10:101018939 [GRCh38] Chr10:102778696 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.685G>A (p.Gly229Ser) |
single nucleotide variant |
not provided [RCV001755990]|not specified [RCV000614600] |
Chr10:101022243 [GRCh38] Chr10:102782000 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=) |
single nucleotide variant |
not provided [RCV000888077]|not specified [RCV000605246] |
Chr10:101008626 [GRCh38] Chr10:102768383 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.224A>T (p.Glu75Val) |
single nucleotide variant |
not provided [RCV000512782] |
Chr10:101029996 [GRCh38] Chr10:102789753 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1576C>T (p.Gln526Ter) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV000656352] |
Chr10:101015809 [GRCh38] Chr10:102775566 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV000656354]|not provided [RCV003424263] |
Chr10:101015737 [GRCh38] Chr10:102775494 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.293G>T (p.Gly98Val) |
single nucleotide variant |
not provided [RCV000513520] |
Chr10:101024002 [GRCh38] Chr10:102783759 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.559C>T (p.Arg187Trp) |
single nucleotide variant |
not provided [RCV000658577] |
Chr10:101022369 [GRCh38] Chr10:102782126 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs) |
deletion |
Usher syndrome type 2A [RCV000678984] |
Chr10:101019134 [GRCh38] Chr10:102778891 [GRCh37] Chr10:10q24.31 |
pathogenic |
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 |
copy number gain |
not provided [RCV000683291] |
Chr10:94346520..135427143 [GRCh37] Chr10:10q23.33-26.3 |
pathogenic |
NM_001195263.2(PDZD7):c.1750-110C>G |
single nucleotide variant |
not provided [RCV001566856] |
Chr10:101012368 [GRCh38] Chr10:102772125 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1522+260CCTT[3] |
microsatellite |
not provided [RCV001582210] |
Chr10:101017824..101017827 [GRCh38] Chr10:102777581..102777584 [GRCh37] Chr10:10q24.31 |
likely benign |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 |
copy number gain |
not provided [RCV000749464] |
Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 |
copy number gain |
not provided [RCV000749465] |
Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_001195263.2(PDZD7):c.1522+704del |
deletion |
not provided [RCV001541405] |
Chr10:101017395 [GRCh38] Chr10:102777152 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.802G>A (p.Asp268Asn) |
single nucleotide variant |
Hearing impairment [RCV001375109]|not provided [RCV001053461] |
Chr10:101021863 [GRCh38] Chr10:102781620 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1522+228dup |
duplication |
not provided [RCV001680029] |
Chr10:101017870..101017871 [GRCh38] Chr10:102777627..102777628 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1758C>A (p.His586Gln) |
single nucleotide variant |
not provided [RCV001055259] |
Chr10:101012250 [GRCh38] Chr10:102772007 [GRCh37] Chr10:10q24.31 |
likely benign|uncertain significance |
NM_001195263.2(PDZD7):c.1088G>A (p.Trp363Ter) |
single nucleotide variant |
Ear malformation [RCV001836910] |
Chr10:101019058 [GRCh38] Chr10:102778815 [GRCh37] Chr10:10q24.31 |
likely pathogenic|uncertain significance |
NM_001195263.2(PDZD7):c.592C>T (p.Pro198Ser) |
single nucleotide variant |
not provided [RCV001551822] |
Chr10:101022336 [GRCh38] Chr10:102782093 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1933+46G>C |
single nucleotide variant |
not provided [RCV001581678] |
Chr10:101011879 [GRCh38] Chr10:102771636 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1940C>T (p.Pro647Leu) |
single nucleotide variant |
not provided [RCV000992516] |
Chr10:101011755 [GRCh38] Chr10:102771512 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1749+43del |
deletion |
Hearing loss, autosomal recessive 57 [RCV001788674]|Usher syndrome type 2C [RCV001788673]|not provided [RCV001648549] |
Chr10:101015593 [GRCh38] Chr10:102775350 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002540043]|not provided [RCV000883746]|not specified [RCV001195203] |
Chr10:101023608 [GRCh38] Chr10:102783365 [GRCh37] Chr10:10q24.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001195263.2(PDZD7):c.206T>C (p.Leu69Pro) |
single nucleotide variant |
not provided [RCV001044256] |
Chr10:101030014 [GRCh38] Chr10:102789771 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.539C>T (p.Thr180Met) |
single nucleotide variant |
not provided [RCV001044257] |
Chr10:101023439 [GRCh38] Chr10:102783196 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1588C>T (p.Arg530Trp) |
single nucleotide variant |
not provided [RCV001044385] |
Chr10:101015797 [GRCh38] Chr10:102775554 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.543-3C>T |
single nucleotide variant |
not provided [RCV001051282] |
Chr10:101022388 [GRCh38] Chr10:102782145 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.382T>C (p.Cys128Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002555828]|not provided [RCV001063743] |
Chr10:101023596 [GRCh38] Chr10:102783353 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2335C>T (p.Arg779Cys) |
single nucleotide variant |
not provided [RCV001064044] |
Chr10:101010554 [GRCh38] Chr10:102770311 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NC_000010.11:g.101020598del |
deletion |
not provided [RCV000842816] |
Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2568C>A (p.Pro856=) |
single nucleotide variant |
not provided [RCV000920145] |
Chr10:101010321 [GRCh38] Chr10:102770078 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1191C>T (p.Ile397=) |
single nucleotide variant |
not provided [RCV000940828] |
Chr10:101018955 [GRCh38] Chr10:102778712 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.39C>A (p.Gly13=) |
single nucleotide variant |
not provided [RCV000909740] |
Chr10:101030181 [GRCh38] Chr10:102789938 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.928+63C>A |
single nucleotide variant |
not provided [RCV000842817] |
Chr10:101020555 [GRCh38] Chr10:102780312 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1522+88G>C |
single nucleotide variant |
not provided [RCV000842818] |
Chr10:101018011 [GRCh38] Chr10:102777768 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1522+395A>G |
single nucleotide variant |
not provided [RCV000842819] |
Chr10:101017704 [GRCh38] Chr10:102777461 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu) |
single nucleotide variant |
not provided [RCV001036565]|not specified [RCV000825811] |
Chr10:101018210 [GRCh38] Chr10:102777967 [GRCh37] Chr10:10q24.31 |
likely benign|uncertain significance |
NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=) |
single nucleotide variant |
not provided [RCV001512293]|not specified [RCV000825084] |
Chr10:101010659 [GRCh38] Chr10:102770416 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=) |
single nucleotide variant |
not provided [RCV000965150]|not specified [RCV000825812] |
Chr10:101011953 [GRCh38] Chr10:102771710 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.1934-55C>T |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV001788370]|Usher syndrome type 2C [RCV001788369]|not provided [RCV000836773] |
Chr10:101011816 [GRCh38] Chr10:102771573 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1574-148C>T |
single nucleotide variant |
not provided [RCV000826733] |
Chr10:101015959 [GRCh38] Chr10:102775716 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.937G>A (p.Gly313Arg) |
single nucleotide variant |
not provided [RCV000994496] |
Chr10:101019209 [GRCh38] Chr10:102778966 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1750-241C>T |
single nucleotide variant |
not provided [RCV000831690] |
Chr10:101012499 [GRCh38] Chr10:102772256 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.928+110C>T |
single nucleotide variant |
not provided [RCV000830741] |
Chr10:101020508 [GRCh38] Chr10:102780265 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1750-196T>C |
single nucleotide variant |
not provided [RCV000831719] |
Chr10:101012454 [GRCh38] Chr10:102772211 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2231G>A (p.Arg744Gln) |
single nucleotide variant |
not provided [RCV001509787]|not specified [RCV000825083] |
Chr10:101010658 [GRCh38] Chr10:102770415 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV002283515]|not provided [RCV001858394]|not specified [RCV000825430] |
Chr10:101023488 [GRCh38] Chr10:102783245 [GRCh37] Chr10:10q24.31 |
pathogenic|likely pathogenic|uncertain significance |
NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV002478938]|not provided [RCV001044686]|not specified [RCV000826016] |
Chr10:101022366 [GRCh38] Chr10:102782123 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1171A>G (p.Ile391Val) |
single nucleotide variant |
not provided [RCV001053473]|not specified [RCV000826017] |
Chr10:101018975 [GRCh38] Chr10:102778732 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.543-167T>G |
single nucleotide variant |
not provided [RCV000826732] |
Chr10:101022552 [GRCh38] Chr10:102782309 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2219C>T (p.Pro740Leu) |
single nucleotide variant |
not provided [RCV001060581] |
Chr10:101010670 [GRCh38] Chr10:102770427 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV001328701]|not provided [RCV002536076]|not specified [RCV000826018] |
Chr10:101016425 [GRCh38] Chr10:102776182 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2011C>A (p.Arg671Ser) |
single nucleotide variant |
not provided [RCV001204545]|not specified [RCV000825431] |
Chr10:101010878 [GRCh38] Chr10:102770635 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1841G>C (p.Arg614Thr) |
single nucleotide variant |
not provided [RCV001558284]|not specified [RCV000825432] |
Chr10:101012167 [GRCh38] Chr10:102771924 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4]) |
microsatellite |
Hearing loss, autosomal recessive 57 [RCV002273830]|not provided [RCV001062260]|not specified [RCV000825433] |
Chr10:101010547..101010558 [GRCh38] Chr10:102770304..102770315 [GRCh37] Chr10:10q24.31 |
likely benign|uncertain significance |
NM_001195263.2(PDZD7):c.-165-311A>G |
single nucleotide variant |
not provided [RCV000844018] |
Chr10:101030695 [GRCh38] Chr10:102790452 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.868-203T>G |
single nucleotide variant |
not provided [RCV000844020] |
Chr10:101020881 [GRCh38] Chr10:102780638 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1523-214G>C |
single nucleotide variant |
not provided [RCV000844025] |
Chr10:101016641 [GRCh38] Chr10:102776398 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1750-268T>G |
single nucleotide variant |
not provided [RCV000844035] |
Chr10:101012526 [GRCh38] Chr10:102772283 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2006-313T>G |
single nucleotide variant |
not provided [RCV000844038] |
Chr10:101011196 [GRCh38] Chr10:102770953 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=) |
single nucleotide variant |
Usher syndrome type 2C [RCV002501156]|not provided [RCV001417965]|not specified [RCV000825813] |
Chr10:101015756 [GRCh38] Chr10:102775513 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.419G>A (p.Ser140Asn) |
single nucleotide variant |
not provided [RCV001759630]|not specified [RCV000826019] |
Chr10:101023559 [GRCh38] Chr10:102783316 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2006-179ATAA[4] |
microsatellite |
not provided [RCV000830762] |
Chr10:101011050..101011051 [GRCh38] Chr10:102770807..102770808 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2686G>A (p.Gly896Arg) |
single nucleotide variant |
not provided [RCV001055642] |
Chr10:101009282 [GRCh38] Chr10:102769039 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=) |
single nucleotide variant |
not provided [RCV001522364]|not specified [RCV001195204] |
Chr10:101008491 [GRCh38] Chr10:102768248 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.2185del (p.Arg729fs) |
deletion |
not provided [RCV001009063] |
Chr10:101010704 [GRCh38] Chr10:102770461 [GRCh37] Chr10:10q24.31 |
likely pathogenic |
NM_001195263.2(PDZD7):c.119C>T (p.Thr40Met) |
single nucleotide variant |
not provided [RCV001056784] |
Chr10:101030101 [GRCh38] Chr10:102789858 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2006-2A>G |
single nucleotide variant |
not provided [RCV001172040] |
Chr10:101010885 [GRCh38] Chr10:102770642 [GRCh37] Chr10:10q24.31 |
likely pathogenic |
NM_001195263.2(PDZD7):c.313T>G (p.Ser105Ala) |
single nucleotide variant |
not provided [RCV001213607] |
Chr10:101023982 [GRCh38] Chr10:102783739 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2850del (p.Ser953fs) |
deletion |
Hearing loss, autosomal recessive 57 [RCV001249835]|not provided [RCV001228036] |
Chr10:101008719 [GRCh38] Chr10:102768476 [GRCh37] Chr10:10q24.31 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001195263.2(PDZD7):c.146G>A (p.Arg49Gln) |
single nucleotide variant |
not provided [RCV001213848] |
Chr10:101030074 [GRCh38] Chr10:102789831 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2006-178_2006-177insAATG |
insertion |
not provided [RCV001564195] |
Chr10:101011060..101011061 [GRCh38] Chr10:102770817..102770818 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1673G>A (p.Arg558Gln) |
single nucleotide variant |
not provided [RCV001212711] |
Chr10:101015712 [GRCh38] Chr10:102775469 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1538C>T (p.Pro513Leu) |
single nucleotide variant |
not provided [RCV001227947]|not specified [RCV001195258] |
Chr10:101016412 [GRCh38] Chr10:102776169 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2330G>A (p.Arg777His) |
single nucleotide variant |
not provided [RCV001233229] |
Chr10:101010559 [GRCh38] Chr10:102770316 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1570C>T (p.Arg524Cys) |
single nucleotide variant |
not provided [RCV001233345] |
Chr10:101016380 [GRCh38] Chr10:102776137 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1751A>G (p.Tyr584Cys) |
single nucleotide variant |
not provided [RCV001223669] |
Chr10:101012257 [GRCh38] Chr10:102772014 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.728A>G (p.His243Arg) |
single nucleotide variant |
not provided [RCV001233788] |
Chr10:101021937 [GRCh38] Chr10:102781694 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.548A>T (p.Asp183Val) |
single nucleotide variant |
not provided [RCV001225340] |
Chr10:101022380 [GRCh38] Chr10:102782137 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.652G>A (p.Asp218Asn) |
single nucleotide variant |
not provided [RCV001225364] |
Chr10:101022276 [GRCh38] Chr10:102782033 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2325_2330dup (p.773RS[7]) |
duplication |
not provided [RCV001203771] |
Chr10:101010558..101010559 [GRCh38] Chr10:102770315..102770316 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.622C>T (p.Arg208Trp) |
single nucleotide variant |
not provided [RCV001240718] |
Chr10:101022306 [GRCh38] Chr10:102782063 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.406G>A (p.Val136Met) |
single nucleotide variant |
not provided [RCV001221850] |
Chr10:101023572 [GRCh38] Chr10:102783329 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1960C>T (p.Arg654Trp) |
single nucleotide variant |
Hearing impairment [RCV001375141]|not provided [RCV001232501] |
Chr10:101011735 [GRCh38] Chr10:102771492 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2526T>A (p.Ser842Arg) |
single nucleotide variant |
not provided [RCV001221806] |
Chr10:101010363 [GRCh38] Chr10:102770120 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1445G>A (p.Arg482Gln) |
single nucleotide variant |
not provided [RCV001242315] |
Chr10:101018176 [GRCh38] Chr10:102777933 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2319_2342del (p.773RS[2]) |
deletion |
not provided [RCV001204208] |
Chr10:101010547..101010570 [GRCh38] Chr10:102770304..102770327 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1574-45_1574-3del |
deletion |
not provided [RCV001212276] |
Chr10:101015814..101015856 [GRCh38] Chr10:102775571..102775613 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1529G>A (p.Gly510Asp) |
single nucleotide variant |
not provided [RCV001228670] |
Chr10:101016421 [GRCh38] Chr10:102776178 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2180C>G (p.Pro727Arg) |
single nucleotide variant |
not provided [RCV001230726] |
Chr10:101010709 [GRCh38] Chr10:102770466 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1510G>A (p.Asp504Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003249610] |
Chr10:101018111 [GRCh38] Chr10:102777868 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1522+452T>G |
single nucleotide variant |
not provided [RCV003312174] |
Chr10:101017647 [GRCh38] Chr10:102777404 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1672C>T (p.Arg558Trp) |
single nucleotide variant |
not provided [RCV001700718]|not specified [RCV001195255] |
Chr10:101015713 [GRCh38] Chr10:102775470 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1832A>G (p.Gln611Arg) |
single nucleotide variant |
not provided [RCV001200074] |
Chr10:101012176 [GRCh38] Chr10:102771933 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1093C>T (p.Arg365Trp) |
single nucleotide variant |
not provided [RCV001246761] |
Chr10:101019053 [GRCh38] Chr10:102778810 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1013G>T (p.Ser338Ile) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV001196747] |
Chr10:101019133 [GRCh38] Chr10:102778890 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) |
deletion |
Hearing loss, autosomal recessive 57 [RCV001171317]|Inborn genetic diseases [RCV002559641]|not provided [RCV001664724] |
Chr10:101010800 [GRCh38] Chr10:102770557 [GRCh37] Chr10:10q24.31 |
pathogenic|likely pathogenic |
NM_001195263.2(PDZD7):c.1958C>A (p.Ala653Asp) |
single nucleotide variant |
not provided [RCV003106482] |
Chr10:101011737 [GRCh38] Chr10:102771494 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NC_000010.10:g.(?_102783173)_(102783845_?)del |
deletion |
not provided [RCV003105650] |
Chr10:102783173..102783845 [GRCh37] Chr10:10q24.31 |
pathogenic |
NC_000010.10:g.(?_102747968)_(103535657_?)dup |
duplication |
not provided [RCV003105651] |
Chr10:102747968..103535657 [GRCh37] Chr10:10q24.31-24.32 |
uncertain significance |
NM_001195263.2(PDZD7):c.1522+207_1522+211del |
microsatellite |
not provided [RCV001569387] |
Chr10:101017888..101017892 [GRCh38] Chr10:102777645..102777649 [GRCh37] Chr10:10q24.31 |
likely benign |
NC_000010.10:g.(?_99344461)_(105992004_?)dup |
duplication |
not provided [RCV003107322] |
Chr10:99344461..105992004 [GRCh37] Chr10:10q24.2-25.1 |
uncertain significance |
NM_001195263.2(PDZD7):c.1522+186_1522+211del |
deletion |
not provided [RCV001570909] |
Chr10:101017888..101017913 [GRCh38] Chr10:102777645..102777670 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1522+186_1522+227del |
deletion |
not provided [RCV001568694] |
Chr10:101017872..101017913 [GRCh38] Chr10:102777629..102777670 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.227-130A>G |
single nucleotide variant |
not provided [RCV001651940] |
Chr10:101024198 [GRCh38] Chr10:102783955 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.367+51del |
deletion |
not provided [RCV001558436] |
Chr10:101023877 [GRCh38] Chr10:102783634 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.543-212del |
deletion |
not provided [RCV001620486] |
Chr10:101022597 [GRCh38] Chr10:102782354 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1522+207del |
deletion |
not provided [RCV001670541] |
Chr10:101017892 [GRCh38] Chr10:102777649 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1749+144CA[11] |
microsatellite |
not provided [RCV001656781] |
Chr10:101015465..101015470 [GRCh38] Chr10:102775222..102775227 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1065G>T (p.Glu355Asp) |
single nucleotide variant |
not provided [RCV001236172] |
Chr10:101019081 [GRCh38] Chr10:102778838 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2331_2336del (p.773RS[5]) |
deletion |
not provided [RCV001239385] |
Chr10:101010553..101010558 [GRCh38] Chr10:102770310..102770315 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3003_3022del (p.Thr1002fs) |
deletion |
not provided [RCV001243094] |
Chr10:101008547..101008566 [GRCh38] Chr10:102768304..102768323 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.346G>A (p.Val116Met) |
single nucleotide variant |
not provided [RCV001239713] |
Chr10:101023949 [GRCh38] Chr10:102783706 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.583G>C (p.Gly195Arg) |
single nucleotide variant |
not provided [RCV001053792] |
Chr10:101022345 [GRCh38] Chr10:102782102 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2372C>T (p.Ser791Phe) |
single nucleotide variant |
not provided [RCV001206185] |
Chr10:101010517 [GRCh38] Chr10:102770274 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2299C>T (p.Arg767Trp) |
single nucleotide variant |
not provided [RCV001241403] |
Chr10:101010590 [GRCh38] Chr10:102770347 [GRCh37] Chr10:10q24.31 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001195263.2(PDZD7):c.1996C>T (p.Pro666Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002563912]|not provided [RCV001238271] |
Chr10:101011699 [GRCh38] Chr10:102771456 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.773T>A (p.Val258Asp) |
single nucleotide variant |
not provided [RCV001244000] |
Chr10:101021892 [GRCh38] Chr10:102781649 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.168C>G (p.Arg56=) |
single nucleotide variant |
not provided [RCV000912015] |
Chr10:101030052 [GRCh38] Chr10:102789809 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.2903G>A (p.Gly968Asp) |
single nucleotide variant |
not provided [RCV001665136] |
Chr10:101008666 [GRCh38] Chr10:102768423 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2617+319T>C |
single nucleotide variant |
not provided [RCV001621755] |
Chr10:101009953 [GRCh38] Chr10:102769710 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1934-24T>C |
single nucleotide variant |
not provided [RCV001665429] |
Chr10:101011785 [GRCh38] Chr10:102771542 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.806T>G (p.Ile269Ser) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV002470342] |
Chr10:101021859 [GRCh38] Chr10:102781616 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1522+301dup |
duplication |
not provided [RCV001618067] |
Chr10:101017786..101017787 [GRCh38] Chr10:102777543..102777544 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1522+186_1522+223del |
deletion |
not provided [RCV001593979] |
Chr10:101017876..101017913 [GRCh38] Chr10:102777633..102777670 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.-86A>G |
single nucleotide variant |
not provided [RCV001638947] |
Chr10:101030305 [GRCh38] Chr10:102790062 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1032G>T (p.Ser344=) |
single nucleotide variant |
not provided [RCV001663297] |
Chr10:101019114 [GRCh38] Chr10:102778871 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1522+224dup |
duplication |
not provided [RCV001568169] |
Chr10:101017874..101017875 [GRCh38] Chr10:102777631..102777632 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1522+260_1522+265del |
deletion |
not provided [RCV001656993] |
Chr10:101017834..101017839 [GRCh38] Chr10:102777591..102777596 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1522+207_1522+219del |
microsatellite |
not provided [RCV001671161] |
Chr10:101017880..101017892 [GRCh38] Chr10:102777637..102777649 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2617+25G>A |
single nucleotide variant |
not provided [RCV001599117] |
Chr10:101010247 [GRCh38] Chr10:102770004 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2716C>T (p.Gln906Ter) |
single nucleotide variant |
not provided [RCV001066121] |
Chr10:101009252 [GRCh38] Chr10:102769009 [GRCh37] Chr10:10q24.31 |
pathogenic|uncertain significance |
NM_001195263.2(PDZD7):c.278C>T (p.Pro93Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002555853]|not provided [RCV001066594] |
Chr10:101024017 [GRCh38] Chr10:102783774 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1337del (p.Gln446fs) |
deletion |
not provided [RCV001093425] |
Chr10:101018284 [GRCh38] Chr10:102778041 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2335CGCAGC[5] (p.773RS[8]) |
microsatellite |
not provided [RCV001054820] |
Chr10:101010536..101010537 [GRCh38] Chr10:102770293..102770294 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2777G>A (p.Arg926His) |
single nucleotide variant |
not provided [RCV001057893] |
Chr10:101008792 [GRCh38] Chr10:102768549 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1432G>A (p.Gly478Arg) |
single nucleotide variant |
not provided [RCV001063042] |
Chr10:101018189 [GRCh38] Chr10:102777946 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2786A>G (p.Asp929Gly) |
single nucleotide variant |
not provided [RCV001063907] |
Chr10:101008783 [GRCh38] Chr10:102768540 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1522+186_1522+219del |
deletion |
not provided [RCV001567470] |
Chr10:101017880..101017913 [GRCh38] Chr10:102777637..102777670 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1522+187C>A |
single nucleotide variant |
not provided [RCV001615013] |
Chr10:101017912 [GRCh38] Chr10:102777669 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2179C>T (p.Pro727Ser) |
single nucleotide variant |
not provided [RCV001066768] |
Chr10:101010710 [GRCh38] Chr10:102770467 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.845C>T (p.Thr282Met) |
single nucleotide variant |
not provided [RCV001067389] |
Chr10:101021820 [GRCh38] Chr10:102781577 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.680G>A (p.Arg227His) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV001089564]|not provided [RCV001862658] |
Chr10:101022248 [GRCh38] Chr10:102782005 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2005+244A>G |
single nucleotide variant |
not provided [RCV001690329] |
Chr10:101011446 [GRCh38] Chr10:102771203 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2336G>A (p.Arg779His) |
single nucleotide variant |
not provided [RCV001064889] |
Chr10:101010553 [GRCh38] Chr10:102770310 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1749+144CA[12] |
microsatellite |
not provided [RCV001536427] |
Chr10:101015465..101015468 [GRCh38] Chr10:102775222..102775225 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2618-290A>C |
single nucleotide variant |
not provided [RCV001583654] |
Chr10:101009640 [GRCh38] Chr10:102769397 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1859C>T (p.Thr620Ile) |
single nucleotide variant |
not provided [RCV001065800] |
Chr10:101011999 [GRCh38] Chr10:102771756 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.542+48C>G |
single nucleotide variant |
not provided [RCV001693115] |
Chr10:101023388 [GRCh38] Chr10:102783145 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2341C>T (p.Arg781Cys) |
single nucleotide variant |
not provided [RCV001066259] |
Chr10:101010548 [GRCh38] Chr10:102770305 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.*44G>A |
single nucleotide variant |
not provided [RCV001665458] |
Chr10:101008423 [GRCh38] Chr10:102768180 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.929-281G>A |
single nucleotide variant |
not provided [RCV001584027] |
Chr10:101019498 [GRCh38] Chr10:102779255 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1153A>G (p.Ser385Gly) |
single nucleotide variant |
not provided [RCV001231451] |
Chr10:101018993 [GRCh38] Chr10:102778750 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.292G>A (p.Gly98Ser) |
single nucleotide variant |
not provided [RCV001201439] |
Chr10:101024003 [GRCh38] Chr10:102783760 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2111C>T (p.Ala704Val) |
single nucleotide variant |
not provided [RCV001235777] |
Chr10:101010778 [GRCh38] Chr10:102770535 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.319C>T (p.His107Tyr) |
single nucleotide variant |
not provided [RCV001067376] |
Chr10:101023976 [GRCh38] Chr10:102783733 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.448G>A (p.Val150Ile) |
single nucleotide variant |
not provided [RCV001067380] |
Chr10:101023530 [GRCh38] Chr10:102783287 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1325-3C>T |
single nucleotide variant |
not provided [RCV001039860] |
Chr10:101018299 [GRCh38] Chr10:102778056 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.371G>A (p.Arg124Gln) |
single nucleotide variant |
not provided [RCV001048874] |
Chr10:101023607 [GRCh38] Chr10:102783364 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1696C>T (p.Gln566Ter) |
single nucleotide variant |
not provided [RCV001049369] |
Chr10:101015689 [GRCh38] Chr10:102775446 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.287G>T (p.Arg96Met) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV001089563] |
Chr10:101024008 [GRCh38] Chr10:102783765 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1387C>T (p.Arg463Cys) |
single nucleotide variant |
not provided [RCV001212596] |
Chr10:101018234 [GRCh38] Chr10:102777991 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2258C>G (p.Thr753Arg) |
single nucleotide variant |
not provided [RCV001213371] |
Chr10:101010631 [GRCh38] Chr10:102770388 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.134G>A (p.Arg45Lys) |
single nucleotide variant |
not provided [RCV001233699] |
Chr10:101030086 [GRCh38] Chr10:102789843 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.763G>A (p.Gly255Arg) |
single nucleotide variant |
not provided [RCV001233873] |
Chr10:101021902 [GRCh38] Chr10:102781659 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1530C>T (p.Gly510=) |
single nucleotide variant |
not provided [RCV001212856] |
Chr10:101016420 [GRCh38] Chr10:102776177 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2851G>A (p.Gly951Arg) |
single nucleotide variant |
not provided [RCV001208675] |
Chr10:101008718 [GRCh38] Chr10:102768475 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2408C>T (p.Pro803Leu) |
single nucleotide variant |
not provided [RCV001232049] |
Chr10:101010481 [GRCh38] Chr10:102770238 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2746G>C (p.Gly916Arg) |
single nucleotide variant |
not provided [RCV001203837] |
Chr10:101008823 [GRCh38] Chr10:102768580 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2331_2348dup (p.773_774RS[9]) |
duplication |
not provided [RCV001046429] |
Chr10:101010540..101010541 [GRCh38] Chr10:102770297..102770298 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2600A>G (p.Lys867Arg) |
single nucleotide variant |
not provided [RCV001248006] |
Chr10:101010289 [GRCh38] Chr10:102770046 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.126C>A (p.Tyr42Ter) |
single nucleotide variant |
not provided [RCV001246703] |
Chr10:101030094 [GRCh38] Chr10:102789851 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2012G>A (p.Arg671His) |
single nucleotide variant |
not provided [RCV001038187] |
Chr10:101010877 [GRCh38] Chr10:102770634 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1454G>C (p.Arg485Pro) |
single nucleotide variant |
not provided [RCV001038193] |
Chr10:101018167 [GRCh38] Chr10:102777924 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1484G>A (p.Ser495Asn) |
single nucleotide variant |
not provided [RCV001038204] |
Chr10:101018137 [GRCh38] Chr10:102777894 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.185C>T (p.Ser62Leu) |
single nucleotide variant |
not provided [RCV001231111] |
Chr10:101030035 [GRCh38] Chr10:102789792 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.926G>C (p.Arg309Pro) |
single nucleotide variant |
not provided [RCV001207222] |
Chr10:101020620 [GRCh38] Chr10:102780377 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2122C>T (p.Arg708Cys) |
single nucleotide variant |
not provided [RCV001066464] |
Chr10:101010767 [GRCh38] Chr10:102770524 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.874G>A (p.Gly292Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002560193]|not provided [RCV001362868]|not specified [RCV001195257] |
Chr10:101020672 [GRCh38] Chr10:102780429 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1115C>A (p.Thr372Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002559235]|not provided [RCV001205848]|not specified [RCV001195254] |
Chr10:101019031 [GRCh38] Chr10:102778788 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2639T>C (p.Ile880Thr) |
single nucleotide variant |
not provided [RCV001863083]|not specified [RCV001195253] |
Chr10:101009329 [GRCh38] Chr10:102769086 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1402A>G (p.Met468Val) |
single nucleotide variant |
not provided [RCV001863084]|not specified [RCV001195256] |
Chr10:101018219 [GRCh38] Chr10:102777976 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2932C>A (p.Gln978Lys) |
single nucleotide variant |
not provided [RCV001069342] |
Chr10:101008637 [GRCh38] Chr10:102768394 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV002489556]|not provided [RCV001038714] |
Chr10:101009288 [GRCh38] Chr10:102769045 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2574C>T (p.Gly858=) |
single nucleotide variant |
not provided [RCV001039486] |
Chr10:101010315 [GRCh38] Chr10:102770072 [GRCh37] Chr10:10q24.31 |
likely benign|uncertain significance |
NM_001195263.2(PDZD7):c.1028C>T (p.Pro343Leu) |
single nucleotide variant |
not provided [RCV001040657] |
Chr10:101019118 [GRCh38] Chr10:102778875 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.337G>A (p.Val113Ile) |
single nucleotide variant |
not provided [RCV001064350] |
Chr10:101023958 [GRCh38] Chr10:102783715 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2396C>G (p.Pro799Arg) |
single nucleotide variant |
not provided [RCV001203119] |
Chr10:101010493 [GRCh38] Chr10:102770250 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1705C>A (p.Leu569Met) |
single nucleotide variant |
not provided [RCV001349825] |
Chr10:101015680 [GRCh38] Chr10:102775437 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.58G>T (p.Gly20Cys) |
single nucleotide variant |
not provided [RCV001303028] |
Chr10:101030162 [GRCh38] Chr10:102789919 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2218C>A (p.Pro740Thr) |
single nucleotide variant |
not provided [RCV001303482] |
Chr10:101010671 [GRCh38] Chr10:102770428 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1522+547G>A |
single nucleotide variant |
not provided [RCV001568297] |
Chr10:101017552 [GRCh38] Chr10:102777309 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1102A>G (p.Thr368Ala) |
single nucleotide variant |
not provided [RCV001315839] |
Chr10:101019044 [GRCh38] Chr10:102778801 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3098C>T (p.Pro1033Leu) |
single nucleotide variant |
not provided [RCV001338696] |
Chr10:101008471 [GRCh38] Chr10:102768228 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.704G>C (p.Gly235Ala) |
single nucleotide variant |
not provided [RCV001317002] |
Chr10:101022224 [GRCh38] Chr10:102781981 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.742G>A (p.Glu248Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003166792]|not provided [RCV001314279] |
Chr10:101021923 [GRCh38] Chr10:102781680 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1949T>C (p.Leu650Ser) |
single nucleotide variant |
not provided [RCV001305293] |
Chr10:101011746 [GRCh38] Chr10:102771503 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2719-3T>G |
single nucleotide variant |
not provided [RCV001296438] |
Chr10:101008853 [GRCh38] Chr10:102768610 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.251T>C (p.Ile84Thr) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV001281370] |
Chr10:101024044 [GRCh38] Chr10:102783801 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2863C>T (p.Arg955Trp) |
single nucleotide variant |
not provided [RCV001342772] |
Chr10:101008706 [GRCh38] Chr10:102768463 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2718+9A>G |
single nucleotide variant |
not provided [RCV001301301] |
Chr10:101009241 [GRCh38] Chr10:102768998 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.626G>A (p.Arg209His) |
single nucleotide variant |
Inborn genetic diseases [RCV002547519]|not provided [RCV001351191] |
Chr10:101022302 [GRCh38] Chr10:102782059 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.301G>A (p.Val101Met) |
single nucleotide variant |
not provided [RCV001299529] |
Chr10:101023994 [GRCh38] Chr10:102783751 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2334_2335insTGCAGC (p.Ser778_Arg779insCysSer) |
insertion |
not provided [RCV001350920] |
Chr10:101010554..101010555 [GRCh38] Chr10:102770311..102770312 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.517A>C (p.Lys173Gln) |
single nucleotide variant |
not provided [RCV001316902] |
Chr10:101023461 [GRCh38] Chr10:102783218 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.226G>C (p.Ala76Pro) |
single nucleotide variant |
not provided [RCV001309411] |
Chr10:101029994 [GRCh38] Chr10:102789751 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2335CGCAGC[6] (p.773RS[9]) |
microsatellite |
not provided [RCV001309532] |
Chr10:101010536..101010537 [GRCh38] Chr10:102770293..102770294 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1526G>A (p.Gly509Glu) |
single nucleotide variant |
not provided [RCV001304632] |
Chr10:101016424 [GRCh38] Chr10:102776181 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2432G>A (p.Arg811His) |
single nucleotide variant |
Usher syndrome type 2C [RCV001328704] |
Chr10:101010457 [GRCh38] Chr10:102770214 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2328C>A (p.Ser776Arg) |
single nucleotide variant |
not provided [RCV001337912] |
Chr10:101010561 [GRCh38] Chr10:102770318 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2746G>A (p.Gly916Arg) |
single nucleotide variant |
not provided [RCV001295504] |
Chr10:101008823 [GRCh38] Chr10:102768580 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1670G>A (p.Arg557Gln) |
single nucleotide variant |
not provided [RCV001361452] |
Chr10:101015715 [GRCh38] Chr10:102775472 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.562C>T (p.Arg188Cys) |
single nucleotide variant |
not provided [RCV001374131] |
Chr10:101022366 [GRCh38] Chr10:102782123 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2694C>T (p.Ala898=) |
single nucleotide variant |
not provided [RCV001414722] |
Chr10:101009274 [GRCh38] Chr10:102769031 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.481A>T (p.Met161Leu) |
single nucleotide variant |
Hearing impairment [RCV001375232]|not provided [RCV001865875] |
Chr10:101023497 [GRCh38] Chr10:102783254 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1760A>T (p.Glu587Val) |
single nucleotide variant |
not provided [RCV001361676] |
Chr10:101012248 [GRCh38] Chr10:102772005 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1621T>C (p.Ser541Pro) |
single nucleotide variant |
not provided [RCV001314497] |
Chr10:101015764 [GRCh38] Chr10:102775521 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2381G>A (p.Arg794Lys) |
single nucleotide variant |
not provided [RCV001367850] |
Chr10:101010508 [GRCh38] Chr10:102770265 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2745C>T (p.Asp915=) |
single nucleotide variant |
not provided [RCV001433060] |
Chr10:101008824 [GRCh38] Chr10:102768581 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.720-16G>A |
single nucleotide variant |
not provided [RCV001433085] |
Chr10:101021961 [GRCh38] Chr10:102781718 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2695G>A (p.Ala899Thr) |
single nucleotide variant |
Hearing impairment [RCV001375315]|not provided [RCV001865877] |
Chr10:101009273 [GRCh38] Chr10:102769030 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2019C>T (p.Gly673=) |
single nucleotide variant |
not provided [RCV001433903] |
Chr10:101010870 [GRCh38] Chr10:102770627 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1571G>A (p.Arg524His) |
single nucleotide variant |
Inborn genetic diseases [RCV002547743]|not provided [RCV001360247] |
Chr10:101016379 [GRCh38] Chr10:102776136 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.926G>A (p.Arg309Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003166738]|not provided [RCV001306038] |
Chr10:101020620 [GRCh38] Chr10:102780377 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2186G>A (p.Arg729Gln) |
single nucleotide variant |
not provided [RCV001313709] |
Chr10:101010703 [GRCh38] Chr10:102770460 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1408C>T (p.Leu470Phe) |
single nucleotide variant |
not provided [RCV001301292] |
Chr10:101018213 [GRCh38] Chr10:102777970 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1669C>T (p.Arg557Trp) |
single nucleotide variant |
not provided [RCV001341847] |
Chr10:101015716 [GRCh38] Chr10:102775473 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.491G>A (p.Arg164Gln) |
single nucleotide variant |
not provided [RCV001321478] |
Chr10:101023487 [GRCh38] Chr10:102783244 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002546991]|Usher syndrome type 2C [RCV002486394]|not provided [RCV001343487] |
Chr10:101022330 [GRCh38] Chr10:102782087 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1115C>T (p.Thr372Met) |
single nucleotide variant |
not provided [RCV001322754] |
Chr10:101019031 [GRCh38] Chr10:102778788 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2624G>C (p.Ser875Thr) |
single nucleotide variant |
Hearing impairment [RCV001375231] |
Chr10:101009344 [GRCh38] Chr10:102769101 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2033C>T (p.Pro678Leu) |
single nucleotide variant |
Hearing impairment [RCV001375409] |
Chr10:101010856 [GRCh38] Chr10:102770613 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2318_2319insCAGCCGCAGCCG (p.773RS[8]) |
insertion |
not provided [RCV001339727] |
Chr10:101010570..101010571 [GRCh38] Chr10:102770327..102770328 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.679C>T (p.Arg227Cys) |
single nucleotide variant |
not provided [RCV001340537] |
Chr10:101022249 [GRCh38] Chr10:102782006 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1379C>T (p.Ala460Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002550127]|not provided [RCV001371224] |
Chr10:101018242 [GRCh38] Chr10:102777999 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2819G>A (p.Arg940Gln) |
single nucleotide variant |
not provided [RCV001297960] |
Chr10:101008750 [GRCh38] Chr10:102768507 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3079G>A (p.Ala1027Thr) |
single nucleotide variant |
not provided [RCV001309619] |
Chr10:101008490 [GRCh38] Chr10:102768247 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2594T>G (p.Leu865Arg) |
single nucleotide variant |
not provided [RCV001320163] |
Chr10:101010295 [GRCh38] Chr10:102770052 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.349G>A (p.Glu117Lys) |
single nucleotide variant |
not provided [RCV001371751] |
Chr10:101023946 [GRCh38] Chr10:102783703 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.440G>A (p.Gly147Asp) |
single nucleotide variant |
not provided [RCV001296064] |
Chr10:101023538 [GRCh38] Chr10:102783295 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1976C>T (p.Pro659Leu) |
single nucleotide variant |
not provided [RCV001337925] |
Chr10:101011719 [GRCh38] Chr10:102771476 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1515A>G (p.Ile505Met) |
single nucleotide variant |
not provided [RCV001342347] |
Chr10:101018106 [GRCh38] Chr10:102777863 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2123G>A (p.Arg708His) |
single nucleotide variant |
Inborn genetic diseases [RCV002545142]|not provided [RCV001324099] |
Chr10:101010766 [GRCh38] Chr10:102770523 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2158G>T (p.Val720Leu) |
single nucleotide variant |
not provided [RCV001346929] |
Chr10:101010731 [GRCh38] Chr10:102770488 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2211del (p.Gln737fs) |
deletion |
not provided [RCV001386180] |
Chr10:101010678 [GRCh38] Chr10:102770435 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.1022C>T (p.Ser341Phe) |
single nucleotide variant |
not provided [RCV001313134] |
Chr10:101019124 [GRCh38] Chr10:102778881 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2336_2337insTAGCCGCAGCCG (p.773RS[8]) |
insertion |
not provided [RCV001349542] |
Chr10:101010552..101010553 [GRCh38] Chr10:102770309..102770310 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1748G>A (p.Arg583Gln) |
single nucleotide variant |
not provided [RCV001345006] |
Chr10:101015637 [GRCh38] Chr10:102775394 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2110G>T (p.Ala704Ser) |
single nucleotide variant |
not provided [RCV001373995] |
Chr10:101010779 [GRCh38] Chr10:102770536 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2747G>C (p.Gly916Ala) |
single nucleotide variant |
not provided [RCV001309942] |
Chr10:101008822 [GRCh38] Chr10:102768579 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.254A>G (p.His85Arg) |
single nucleotide variant |
not provided [RCV001350322] |
Chr10:101024041 [GRCh38] Chr10:102783798 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.493C>T (p.Arg165Cys) |
single nucleotide variant |
not provided [RCV001345141] |
Chr10:101023485 [GRCh38] Chr10:102783242 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.364G>A (p.Ala122Thr) |
single nucleotide variant |
not provided [RCV001347497] |
Chr10:101023931 [GRCh38] Chr10:102783688 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2999C>T (p.Pro1000Leu) |
single nucleotide variant |
not provided [RCV001361693] |
Chr10:101008570 [GRCh38] Chr10:102768327 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1964A>G (p.Gln655Arg) |
single nucleotide variant |
not provided [RCV001304825] |
Chr10:101011731 [GRCh38] Chr10:102771488 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.658T>G (p.Phe220Val) |
single nucleotide variant |
not provided [RCV001350313] |
Chr10:101022270 [GRCh38] Chr10:102782027 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2319_2328del (p.Ser774fs) |
deletion |
Usher syndrome [RCV003389557] |
Chr10:101010561..101010570 [GRCh38] Chr10:102770318..102770327 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2218C>T (p.Pro740Ser) |
single nucleotide variant |
not provided [RCV001326959] |
Chr10:101010671 [GRCh38] Chr10:102770428 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1424G>A (p.Gly475Glu) |
single nucleotide variant |
not provided [RCV001342863] |
Chr10:101018197 [GRCh38] Chr10:102777954 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2551G>A (p.Ala851Thr) |
single nucleotide variant |
not provided [RCV001362022] |
Chr10:101010338 [GRCh38] Chr10:102770095 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3045del (p.Ser1016fs) |
deletion |
not provided [RCV001350565] |
Chr10:101008524 [GRCh38] Chr10:102768281 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1216C>T (p.Arg406Cys) |
single nucleotide variant |
not provided [RCV001368005] |
Chr10:101018930 [GRCh38] Chr10:102778687 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2335CGCAGC[1] (p.773RS[4]) |
microsatellite |
not provided [RCV001359841] |
Chr10:101010537..101010548 [GRCh38] Chr10:102770294..102770305 [GRCh37] Chr10:10q24.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001195263.2(PDZD7):c.2789C>A (p.Thr930Asn) |
single nucleotide variant |
not provided [RCV001298768] |
Chr10:101008780 [GRCh38] Chr10:102768537 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1069G>A (p.Gly357Ser) |
single nucleotide variant |
not provided [RCV001364347] |
Chr10:101019077 [GRCh38] Chr10:102778834 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1662G>C (p.Trp554Cys) |
single nucleotide variant |
not provided [RCV001317501] |
Chr10:101015723 [GRCh38] Chr10:102775480 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.83G>A (p.Arg28Gln) |
single nucleotide variant |
not provided [RCV001373367] |
Chr10:101030137 [GRCh38] Chr10:102789894 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2692dup (p.Ala898fs) |
duplication |
not provided [RCV001368418] |
Chr10:101009275..101009276 [GRCh38] Chr10:102769032..102769033 [GRCh37] Chr10:10q24.31 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001195263.2(PDZD7):c.59G>C (p.Gly20Ala) |
single nucleotide variant |
not provided [RCV001308515] |
Chr10:101030161 [GRCh38] Chr10:102789918 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1325-22del |
deletion |
Deafness, autosomal recessive 57 [RCV001328700] |
Chr10:101018318 [GRCh38] Chr10:102778075 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2675A>C (p.Lys892Thr) |
single nucleotide variant |
not provided [RCV001337565] |
Chr10:101009293 [GRCh38] Chr10:102769050 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2132_2146del (p.His711_Pro715del) |
deletion |
not provided [RCV001366291] |
Chr10:101010743..101010757 [GRCh38] Chr10:102770500..102770514 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2330_2331del (p.Arg777fs) |
deletion |
Usher syndrome [RCV003389556] |
Chr10:101010558..101010559 [GRCh38] Chr10:102770315..102770316 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2698T>C (p.Phe900Leu) |
single nucleotide variant |
not provided [RCV001371051] |
Chr10:101009270 [GRCh38] Chr10:102769027 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1664A>G (p.Glu555Gly) |
single nucleotide variant |
not provided [RCV001366466] |
Chr10:101015721 [GRCh38] Chr10:102775478 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1106C>T (p.Ala369Val) |
single nucleotide variant |
not provided [RCV001318161] |
Chr10:101019040 [GRCh38] Chr10:102778797 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2107A>G (p.Ser703Gly) |
single nucleotide variant |
not provided [RCV001366618] |
Chr10:101010782 [GRCh38] Chr10:102770539 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.665T>G (p.Leu222Arg) |
single nucleotide variant |
not provided [RCV001366818] |
Chr10:101022263 [GRCh38] Chr10:102782020 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2040C>T (p.Asn680=) |
single nucleotide variant |
not provided [RCV001395569] |
Chr10:101010849 [GRCh38] Chr10:102770606 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.92T>C (p.Leu31Pro) |
single nucleotide variant |
not provided [RCV001297463] |
Chr10:101030128 [GRCh38] Chr10:102789885 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1255G>T (p.Ala419Ser) |
single nucleotide variant |
not provided [RCV001368069] |
Chr10:101018891 [GRCh38] Chr10:102778648 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1485C>A (p.Ser495Arg) |
single nucleotide variant |
not provided [RCV001367257]|not specified [RCV001449718] |
Chr10:101018136 [GRCh38] Chr10:102777893 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.890A>T (p.Tyr297Phe) |
single nucleotide variant |
not provided [RCV001326961] |
Chr10:101020656 [GRCh38] Chr10:102780413 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1589G>A (p.Arg530Gln) |
single nucleotide variant |
not provided [RCV001360934] |
Chr10:101015796 [GRCh38] Chr10:102775553 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2077G>A (p.Glu693Lys) |
single nucleotide variant |
not provided [RCV001327074] |
Chr10:101010812 [GRCh38] Chr10:102770569 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1522+2dup |
duplication |
Hearing impairment [RCV001375149]|not provided [RCV001865873] |
Chr10:101018096..101018097 [GRCh38] Chr10:102777853..102777854 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2306G>A (p.Arg769Gln) |
single nucleotide variant |
not provided [RCV001365566] |
Chr10:101010583 [GRCh38] Chr10:102770340 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2515C>T (p.Pro839Ser) |
single nucleotide variant |
Usher syndrome, type IIC, GPR98/PDZD7 digenic [RCV001535738]|not provided [RCV001308273] |
Chr10:101010374 [GRCh38] Chr10:102770131 [GRCh37] Chr10:10q24.31 |
uncertain significance|not provided |
NM_001195263.2(PDZD7):c.1531G>A (p.Val511Met) |
single nucleotide variant |
not provided [RCV001365749] |
Chr10:101016419 [GRCh38] Chr10:102776176 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.623G>T (p.Arg208Leu) |
single nucleotide variant |
not provided [RCV001295526] |
Chr10:101022305 [GRCh38] Chr10:102782062 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1799T>A (p.Ile600Asn) |
single nucleotide variant |
not provided [RCV001325010] |
Chr10:101012209 [GRCh38] Chr10:102771966 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.623G>A (p.Arg208Gln) |
single nucleotide variant |
not provided [RCV001304676] |
Chr10:101022305 [GRCh38] Chr10:102782062 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2329C>T (p.Arg777Cys) |
single nucleotide variant |
not provided [RCV001469420] |
Chr10:101010560 [GRCh38] Chr10:102770317 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2253G>A (p.Leu751=) |
single nucleotide variant |
not provided [RCV001466691] |
Chr10:101010636 [GRCh38] Chr10:102770393 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2460C>G (p.Pro820=) |
single nucleotide variant |
not provided [RCV001490422] |
Chr10:101010429 [GRCh38] Chr10:102770186 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2181C>A (p.Pro727=) |
single nucleotide variant |
not provided [RCV001487445] |
Chr10:101010708 [GRCh38] Chr10:102770465 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1812G>T (p.Pro604=) |
single nucleotide variant |
not provided [RCV001458422] |
Chr10:101012196 [GRCh38] Chr10:102771953 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.873C>A (p.Thr291=) |
single nucleotide variant |
not provided [RCV001482645] |
Chr10:101020673 [GRCh38] Chr10:102780430 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1653T>G (p.Val551=) |
single nucleotide variant |
not provided [RCV001510727] |
Chr10:101015732 [GRCh38] Chr10:102775489 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.1579G>A (p.Glu527Lys) |
single nucleotide variant |
not provided [RCV001521197] |
Chr10:101015806 [GRCh38] Chr10:102775563 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.53G>A (p.Ser18Asn) |
single nucleotide variant |
not provided [RCV001475525] |
Chr10:101030167 [GRCh38] Chr10:102789924 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1842-12G>A |
single nucleotide variant |
not provided [RCV001462030] |
Chr10:101012028 [GRCh38] Chr10:102771785 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2335CGCAGC[2] (p.773RS[5]) |
microsatellite |
not provided [RCV001480607] |
Chr10:101010537..101010542 [GRCh38] Chr10:102770294..102770299 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.909G>A (p.Glu303=) |
single nucleotide variant |
not provided [RCV001483637] |
Chr10:101020637 [GRCh38] Chr10:102780394 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.368-20A>G |
single nucleotide variant |
not provided [RCV001516673] |
Chr10:101023630 [GRCh38] Chr10:102783387 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.2751G>A (p.Glu917=) |
single nucleotide variant |
not provided [RCV001477157] |
Chr10:101008818 [GRCh38] Chr10:102768575 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2817C>T (p.Ala939=) |
single nucleotide variant |
not provided [RCV001497802] |
Chr10:101008752 [GRCh38] Chr10:102768509 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2313G>A (p.Gln771=) |
single nucleotide variant |
not provided [RCV001503555] |
Chr10:101010576 [GRCh38] Chr10:102770333 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2127C>T (p.His709=) |
single nucleotide variant |
not provided [RCV001442824] |
Chr10:101010762 [GRCh38] Chr10:102770519 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.867+19G>A |
single nucleotide variant |
not provided [RCV001419180] |
Chr10:101021779 [GRCh38] Chr10:102781536 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.786C>T (p.Asn262=) |
single nucleotide variant |
not provided [RCV001518215] |
Chr10:101021879 [GRCh38] Chr10:102781636 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.929-13C>T |
single nucleotide variant |
not provided [RCV001457178] |
Chr10:101019230 [GRCh38] Chr10:102778987 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2073G>C (p.Leu691=) |
single nucleotide variant |
not provided [RCV001486389] |
Chr10:101010816 [GRCh38] Chr10:102770573 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1362C>T (p.Ser454=) |
single nucleotide variant |
not provided [RCV001443276] |
Chr10:101018259 [GRCh38] Chr10:102778016 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.621C>G (p.Val207=) |
single nucleotide variant |
not provided [RCV001432589] |
Chr10:101022307 [GRCh38] Chr10:102782064 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1655dup (p.Ala553fs) |
duplication |
PDZD7-related condition [RCV003399197]|not provided [RCV001381079] |
Chr10:101015729..101015730 [GRCh38] Chr10:102775486..102775487 [GRCh37] Chr10:10q24.31 |
pathogenic|likely pathogenic |
NM_001195263.2(PDZD7):c.1977C>G (p.Pro659=) |
single nucleotide variant |
not provided [RCV001531079] |
Chr10:101011718 [GRCh38] Chr10:102771475 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.582C>T (p.Cys194=) |
single nucleotide variant |
not provided [RCV001402154] |
Chr10:101022346 [GRCh38] Chr10:102782103 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2850C>T (p.Pro950=) |
single nucleotide variant |
not provided [RCV001409805] |
Chr10:101008719 [GRCh38] Chr10:102768476 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.414G>A (p.Gly138=) |
single nucleotide variant |
not provided [RCV001402698] |
Chr10:101023564 [GRCh38] Chr10:102783321 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1353G>A (p.Lys451=) |
single nucleotide variant |
not provided [RCV001444406] |
Chr10:101018268 [GRCh38] Chr10:102778025 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2013C>T (p.Arg671=) |
single nucleotide variant |
not provided [RCV001441910] |
Chr10:101010876 [GRCh38] Chr10:102770633 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1399C>T (p.Leu467=) |
single nucleotide variant |
not provided [RCV001441953] |
Chr10:101018222 [GRCh38] Chr10:102777979 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2719-16_2719-13del |
microsatellite |
not provided [RCV001423236] |
Chr10:101008863..101008866 [GRCh38] Chr10:102768620..102768623 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.831G>A (p.Val277=) |
single nucleotide variant |
not provided [RCV001392969] |
Chr10:101021834 [GRCh38] Chr10:102781591 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.384C>T (p.Cys128=) |
single nucleotide variant |
not provided [RCV001419472] |
Chr10:101023594 [GRCh38] Chr10:102783351 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1147dup (p.Trp383fs) |
duplication |
not provided [RCV001385729] |
Chr10:101018998..101018999 [GRCh38] Chr10:102778755..102778756 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.519G>A (p.Lys173=) |
single nucleotide variant |
not provided [RCV001401707] |
Chr10:101023459 [GRCh38] Chr10:102783216 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1136G>A (p.Arg379Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002559301]|not provided [RCV001439182] |
Chr10:101019010 [GRCh38] Chr10:102778767 [GRCh37] Chr10:10q24.31 |
likely benign|uncertain significance |
NM_001195263.2(PDZD7):c.255T>C (p.His85=) |
single nucleotide variant |
not provided [RCV001472642] |
Chr10:101024040 [GRCh38] Chr10:102783797 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1841+7G>A |
single nucleotide variant |
not provided [RCV001472993] |
Chr10:101012160 [GRCh38] Chr10:102771917 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2832G>A (p.Glu944=) |
single nucleotide variant |
not provided [RCV001495044] |
Chr10:101008737 [GRCh38] Chr10:102768494 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1522+207_1522+223del |
microsatellite |
not provided [RCV001617061] |
Chr10:101017876..101017892 [GRCh38] Chr10:102777633..102777649 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1749+188A>G |
single nucleotide variant |
not provided [RCV001617099] |
Chr10:101015448 [GRCh38] Chr10:102775205 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.719+52G>T |
single nucleotide variant |
not provided [RCV001586356] |
Chr10:101022157 [GRCh38] Chr10:102781914 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1522+260CCTT[2] |
microsatellite |
not provided [RCV001698746] |
Chr10:101017824..101017831 [GRCh38] Chr10:102777581..102777588 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.1575C>T (p.Asp525=) |
single nucleotide variant |
not provided [RCV001496647] |
Chr10:101015810 [GRCh38] Chr10:102775567 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1875C>T (p.Phe625=) |
single nucleotide variant |
not provided [RCV001466476] |
Chr10:101011983 [GRCh38] Chr10:102771740 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2331T>C (p.Arg777=) |
single nucleotide variant |
not provided [RCV001452686] |
Chr10:101010558 [GRCh38] Chr10:102770315 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1522+232dup |
duplication |
not provided [RCV001589842] |
Chr10:101017866..101017867 [GRCh38] Chr10:102777623..102777624 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.300C>T (p.Ser100=) |
single nucleotide variant |
not provided [RCV001463302] |
Chr10:101023995 [GRCh38] Chr10:102783752 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1916C>G (p.Ala639Gly) |
single nucleotide variant |
not provided [RCV001522882] |
Chr10:101011942 [GRCh38] Chr10:102771699 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.1527G>A (p.Gly509=) |
single nucleotide variant |
not provided [RCV001488191] |
Chr10:101016423 [GRCh38] Chr10:102776180 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2006-38_2006-37insGAGGTGGTCCAGTCTGG |
insertion |
not provided [RCV001669894] |
Chr10:101010920..101010921 [GRCh38] Chr10:102770677..102770678 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.672C>T (p.Phe224=) |
single nucleotide variant |
not provided [RCV001456237] |
Chr10:101022256 [GRCh38] Chr10:102782013 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1359G>C (p.Gly453=) |
single nucleotide variant |
not provided [RCV001481092] |
Chr10:101018262 [GRCh38] Chr10:102778019 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1942C>T (p.Pro648Ser) |
single nucleotide variant |
not provided [RCV001513981] |
Chr10:101011753 [GRCh38] Chr10:102771510 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.336C>T (p.Phe112=) |
single nucleotide variant |
not provided [RCV001699955] |
Chr10:101023959 [GRCh38] Chr10:102783716 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.226+9G>A |
single nucleotide variant |
not provided [RCV001501639] |
Chr10:101029985 [GRCh38] Chr10:102789742 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2772C>T (p.His924=) |
single nucleotide variant |
not provided [RCV001437973] |
Chr10:101008797 [GRCh38] Chr10:102768554 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.150G>A (p.Leu50=) |
single nucleotide variant |
not provided [RCV001436065] |
Chr10:101030070 [GRCh38] Chr10:102789827 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.963C>T (p.Ala321=) |
single nucleotide variant |
not provided [RCV001442468] |
Chr10:101019183 [GRCh38] Chr10:102778940 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2727C>T (p.Phe909=) |
single nucleotide variant |
not provided [RCV001498054] |
Chr10:101008842 [GRCh38] Chr10:102768599 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2598C>T (p.Ser866=) |
single nucleotide variant |
not provided [RCV001477135] |
Chr10:101010291 [GRCh38] Chr10:102770048 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1539G>A (p.Pro513=) |
single nucleotide variant |
not provided [RCV001429197] |
Chr10:101016411 [GRCh38] Chr10:102776168 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1282C>A (p.Arg428=) |
single nucleotide variant |
not provided [RCV001462873] |
Chr10:101018864 [GRCh38] Chr10:102778621 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.324C>T (p.Gly108=) |
single nucleotide variant |
not provided [RCV001514664] |
Chr10:101023971 [GRCh38] Chr10:102783728 [GRCh37] Chr10:10q24.31 |
benign|likely benign |
NM_001195263.2(PDZD7):c.2691G>C (p.Gly897=) |
single nucleotide variant |
not provided [RCV001500371] |
Chr10:101009277 [GRCh38] Chr10:102769034 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1456A>C (p.Arg486=) |
single nucleotide variant |
not provided [RCV001429469] |
Chr10:101018165 [GRCh38] Chr10:102777922 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.939G>A (p.Gly313=) |
single nucleotide variant |
not provided [RCV001496430] |
Chr10:101019207 [GRCh38] Chr10:102778964 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.720-17C>T |
single nucleotide variant |
not provided [RCV001443402] |
Chr10:101021962 [GRCh38] Chr10:102781719 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.993C>A (p.Cys331Ter) |
single nucleotide variant |
not provided [RCV001385626] |
Chr10:101019153 [GRCh38] Chr10:102778910 [GRCh37] Chr10:10q24.31 |
pathogenic|likely pathogenic |
NM_001195263.2(PDZD7):c.2586A>G (p.Thr862=) |
single nucleotide variant |
not provided [RCV001425888] |
Chr10:101010303 [GRCh38] Chr10:102770060 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1750-4G>T |
single nucleotide variant |
not provided [RCV001417955] |
Chr10:101012262 [GRCh38] Chr10:102772019 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1293C>T (p.Ile431=) |
single nucleotide variant |
not provided [RCV001505626] |
Chr10:101018853 [GRCh38] Chr10:102778610 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2618-6_2619del |
deletion |
not provided [RCV002244502] |
Chr10:101009349..101009356 [GRCh38] Chr10:102769106..102769113 [GRCh37] Chr10:10q24.31 |
likely pathogenic |
NM_001195263.2(PDZD7):c.563G>A (p.Arg188His) |
single nucleotide variant |
not provided [RCV001756622] |
Chr10:101022365 [GRCh38] Chr10:102782122 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.547G>A (p.Asp183Asn) |
single nucleotide variant |
not provided [RCV001763233] |
Chr10:101022381 [GRCh38] Chr10:102782138 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2020T>C (p.Phe674Leu) |
single nucleotide variant |
not provided [RCV002259507] |
Chr10:101010869 [GRCh38] Chr10:102770626 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.464_471del (p.Ser155fs) |
deletion |
not provided [RCV001782594] |
Chr10:101023507..101023514 [GRCh38] Chr10:102783264..102783271 [GRCh37] Chr10:10q24.31 |
likely pathogenic |
NM_001195263.2(PDZD7):c.574G>A (p.Glu192Lys) |
single nucleotide variant |
not provided [RCV001787498] |
Chr10:101022354 [GRCh38] Chr10:102782111 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.902T>C (p.Val301Ala) |
single nucleotide variant |
not provided [RCV001768497] |
Chr10:101020644 [GRCh38] Chr10:102780401 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3067_3072del (p.Asp1023_Ser1024del) |
deletion |
not provided [RCV001765872] |
Chr10:101008497..101008502 [GRCh38] Chr10:102768254..102768259 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2806C>T (p.Arg936Ter) |
single nucleotide variant |
not provided [RCV001764829] |
Chr10:101008763 [GRCh38] Chr10:102768520 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV003333179]|Usher syndrome type 2C [RCV003147675]|not provided [RCV001782592] |
Chr10:101016407 [GRCh38] Chr10:102776164 [GRCh37] Chr10:10q24.31 |
pathogenic|likely pathogenic |
NM_001195263.2(PDZD7):c.649del (p.Ser217fs) |
deletion |
not provided [RCV001782593] |
Chr10:101022279 [GRCh38] Chr10:102782036 [GRCh37] Chr10:10q24.31 |
likely pathogenic |
NM_001195263.2(PDZD7):c.-5C>A |
single nucleotide variant |
not provided [RCV001763989] |
Chr10:101030224 [GRCh38] Chr10:102789981 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.494G>A (p.Arg165His) |
single nucleotide variant |
not provided [RCV001797408] |
Chr10:101023484 [GRCh38] Chr10:102783241 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1529G>T (p.Gly510Val) |
single nucleotide variant |
not provided [RCV001760554] |
Chr10:101016421 [GRCh38] Chr10:102776178 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.305G>A (p.Arg102His) |
single nucleotide variant |
not provided [RCV001760998] |
Chr10:101023990 [GRCh38] Chr10:102783747 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1113del (p.Thr372fs) |
deletion |
not provided [RCV001822135] |
Chr10:101019033 [GRCh38] Chr10:102778790 [GRCh37] Chr10:10q24.31 |
likely pathogenic |
NM_001195263.2(PDZD7):c.1149G>C (p.Trp383Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003375389]|not provided [RCV001907710] |
Chr10:101018997 [GRCh38] Chr10:102778754 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.649T>C (p.Ser217Pro) |
single nucleotide variant |
not provided [RCV001915334] |
Chr10:101022279 [GRCh38] Chr10:102782036 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.482T>C (p.Met161Thr) |
single nucleotide variant |
not provided [RCV002044636] |
Chr10:101023496 [GRCh38] Chr10:102783253 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.894G>A (p.Lys298=) |
single nucleotide variant |
not provided [RCV002044888] |
Chr10:101020652 [GRCh38] Chr10:102780409 [GRCh37] Chr10:10q24.31 |
likely benign|uncertain significance |
NM_001195263.2(PDZD7):c.2459C>A (p.Pro820His) |
single nucleotide variant |
not provided [RCV002044826] |
Chr10:101010430 [GRCh38] Chr10:102770187 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1915G>A (p.Ala639Thr) |
single nucleotide variant |
not provided [RCV002022640] |
Chr10:101011943 [GRCh38] Chr10:102771700 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1890G>A (p.Met630Ile) |
single nucleotide variant |
not provided [RCV002042594] |
Chr10:101011968 [GRCh38] Chr10:102771725 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.226+5G>A |
single nucleotide variant |
not provided [RCV001864466] |
Chr10:101029989 [GRCh38] Chr10:102789746 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2410G>A (p.Ala804Thr) |
single nucleotide variant |
not provided [RCV001912427] |
Chr10:101010479 [GRCh38] Chr10:102770236 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1075C>G (p.Arg359Gly) |
single nucleotide variant |
not provided [RCV001988745] |
Chr10:101019071 [GRCh38] Chr10:102778828 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2344_2355dup (p.Ser782_Ser785dup) |
duplication |
not provided [RCV001864588] |
Chr10:101010533..101010534 [GRCh38] Chr10:102770290..102770291 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1450G>A (p.Gly484Arg) |
single nucleotide variant |
not provided [RCV001874571] |
Chr10:101018171 [GRCh38] Chr10:102777928 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.262C>T (p.Arg88Trp) |
single nucleotide variant |
not provided [RCV001896610] |
Chr10:101024033 [GRCh38] Chr10:102783790 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.22G>A (p.Gly8Ser) |
single nucleotide variant |
not provided [RCV001889589] |
Chr10:101030198 [GRCh38] Chr10:102789955 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.445G>A (p.Ala149Thr) |
single nucleotide variant |
not provided [RCV001874402] |
Chr10:101023533 [GRCh38] Chr10:102783290 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.481A>G (p.Met161Val) |
single nucleotide variant |
not provided [RCV001983858] |
Chr10:101023497 [GRCh38] Chr10:102783254 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1657G>T (p.Ala553Ser) |
single nucleotide variant |
not provided [RCV002044346] |
Chr10:101015728 [GRCh38] Chr10:102775485 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2629T>G (p.Ser877Ala) |
single nucleotide variant |
not provided [RCV002005283] |
Chr10:101009339 [GRCh38] Chr10:102769096 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2230C>T (p.Arg744Trp) |
single nucleotide variant |
not provided [RCV002008135] |
Chr10:101010659 [GRCh38] Chr10:102770416 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1870C>T (p.Arg624Cys) |
single nucleotide variant |
not provided [RCV002024669] |
Chr10:101011988 [GRCh38] Chr10:102771745 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2797C>T (p.Arg933Trp) |
single nucleotide variant |
not provided [RCV001863424] |
Chr10:101008772 [GRCh38] Chr10:102768529 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2047C>T (p.Pro683Ser) |
single nucleotide variant |
not provided [RCV001969709] |
Chr10:101010842 [GRCh38] Chr10:102770599 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.500G>A (p.Gly167Asp) |
single nucleotide variant |
not provided [RCV001871461] |
Chr10:101023478 [GRCh38] Chr10:102783235 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2853dup (p.Pro952fs) |
duplication |
not provided [RCV001870799] |
Chr10:101008715..101008716 [GRCh38] Chr10:102768472..102768473 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1322G>C (p.Trp441Ser) |
single nucleotide variant |
not provided [RCV001927248] |
Chr10:101018824 [GRCh38] Chr10:102778581 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2902G>T (p.Gly968Cys) |
single nucleotide variant |
not provided [RCV002023311] |
Chr10:101008667 [GRCh38] Chr10:102768424 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.157G>A (p.Gly53Arg) |
single nucleotide variant |
not provided [RCV001889070] |
Chr10:101030063 [GRCh38] Chr10:102789820 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1758C>T (p.His586=) |
single nucleotide variant |
not provided [RCV001909534] |
Chr10:101012250 [GRCh38] Chr10:102772007 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2644T>C (p.Ser882Pro) |
single nucleotide variant |
not provided [RCV002022978] |
Chr10:101009324 [GRCh38] Chr10:102769081 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2421G>A (p.Met807Ile) |
single nucleotide variant |
not provided [RCV001895572] |
Chr10:101010468 [GRCh38] Chr10:102770225 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.887C>T (p.Ala296Val) |
single nucleotide variant |
not provided [RCV001909693] |
Chr10:101020659 [GRCh38] Chr10:102780416 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2444C>T (p.Pro815Leu) |
single nucleotide variant |
not provided [RCV001891212] |
Chr10:101010445 [GRCh38] Chr10:102770202 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2383C>T (p.Arg795Cys) |
single nucleotide variant |
not provided [RCV002041706] |
Chr10:101010506 [GRCh38] Chr10:102770263 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.472C>T (p.Arg158Cys) |
single nucleotide variant |
not provided [RCV001871002] |
Chr10:101023506 [GRCh38] Chr10:102783263 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.368-4G>A |
single nucleotide variant |
not provided [RCV001969543] |
Chr10:101023614 [GRCh38] Chr10:102783371 [GRCh37] Chr10:10q24.31 |
likely benign|uncertain significance |
NM_001195263.2(PDZD7):c.1811C>T (p.Pro604Leu) |
single nucleotide variant |
not provided [RCV001987586] |
Chr10:101012197 [GRCh38] Chr10:102771954 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.68G>A (p.Ser23Asn) |
single nucleotide variant |
not provided [RCV001969582] |
Chr10:101030152 [GRCh38] Chr10:102789909 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2318_2319inv (p.Arg773His) |
inversion |
not provided [RCV001928551] |
Chr10:101010570..101010571 [GRCh38] Chr10:102770327..102770328 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1921A>G (p.Lys641Glu) |
single nucleotide variant |
not provided [RCV001966798] |
Chr10:101011937 [GRCh38] Chr10:102771694 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2353A>C (p.Ser785Arg) |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV001834550] |
Chr10:101010536 [GRCh38] Chr10:102770293 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.790G>A (p.Val264Ile) |
single nucleotide variant |
not provided [RCV001968477] |
Chr10:101021875 [GRCh38] Chr10:102781632 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.464G>C (p.Ser155Thr) |
single nucleotide variant |
not provided [RCV001984163] |
Chr10:101023514 [GRCh38] Chr10:102783271 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.626G>C (p.Arg209Pro) |
single nucleotide variant |
not provided [RCV001967090] |
Chr10:101022302 [GRCh38] Chr10:102782059 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.868-5C>A |
single nucleotide variant |
not provided [RCV002043382] |
Chr10:101020683 [GRCh38] Chr10:102780440 [GRCh37] Chr10:10q24.31 |
likely benign|uncertain significance |
NM_001195263.2(PDZD7):c.1652T>G (p.Val551Gly) |
single nucleotide variant |
not provided [RCV001928704] |
Chr10:101015733 [GRCh38] Chr10:102775490 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1813G>A (p.Glu605Lys) |
single nucleotide variant |
not provided [RCV001947518] |
Chr10:101012195 [GRCh38] Chr10:102771952 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.727C>G (p.His243Asp) |
single nucleotide variant |
not provided [RCV002041184] |
Chr10:101021938 [GRCh38] Chr10:102781695 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.893A>G (p.Lys298Arg) |
single nucleotide variant |
not provided [RCV001926959] |
Chr10:101020653 [GRCh38] Chr10:102780410 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.766G>A (p.Asp256Asn) |
single nucleotide variant |
not provided [RCV002041447] |
Chr10:101021899 [GRCh38] Chr10:102781656 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.54C>A (p.Ser18Arg) |
single nucleotide variant |
not provided [RCV002039952] |
Chr10:101030166 [GRCh38] Chr10:102789923 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1526G>C (p.Gly509Ala) |
single nucleotide variant |
not provided [RCV001894620] |
Chr10:101016424 [GRCh38] Chr10:102776181 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1452_1454dup (p.Arg486dup) |
duplication |
not provided [RCV001969492] |
Chr10:101018166..101018167 [GRCh38] Chr10:102777923..102777924 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2798G>A (p.Arg933Gln) |
single nucleotide variant |
not provided [RCV001983150] |
Chr10:101008771 [GRCh38] Chr10:102768528 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1501C>T (p.Pro501Ser) |
single nucleotide variant |
not provided [RCV001909736] |
Chr10:101018120 [GRCh38] Chr10:102777877 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2452G>T (p.Ala818Ser) |
single nucleotide variant |
not provided [RCV001889448] |
Chr10:101010437 [GRCh38] Chr10:102770194 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2220del (p.Val741fs) |
deletion |
not provided [RCV001964466] |
Chr10:101010669 [GRCh38] Chr10:102770426 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.1649A>G (p.Gln550Arg) |
single nucleotide variant |
not provided [RCV001927164] |
Chr10:101015736 [GRCh38] Chr10:102775493 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.630C>A (p.Ile210=) |
single nucleotide variant |
not provided [RCV001969122] |
Chr10:101022298 [GRCh38] Chr10:102782055 [GRCh37] Chr10:10q24.31 |
likely benign|uncertain significance |
NM_001195263.2(PDZD7):c.393C>A (p.Asp131Glu) |
single nucleotide variant |
not provided [RCV002020695] |
Chr10:101023585 [GRCh38] Chr10:102783342 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1505G>T (p.Arg502Leu) |
single nucleotide variant |
not provided [RCV002043429] |
Chr10:101018116 [GRCh38] Chr10:102777873 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2024A>G (p.Tyr675Cys) |
single nucleotide variant |
not provided [RCV002041516] |
Chr10:101010865 [GRCh38] Chr10:102770622 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.918dup (p.Leu307fs) |
duplication |
not provided [RCV001942234] |
Chr10:101020627..101020628 [GRCh38] Chr10:102780384..102780385 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.1325-7T>G |
single nucleotide variant |
not provided [RCV001993598] |
Chr10:101018303 [GRCh38] Chr10:102778060 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2455A>G (p.Arg819Gly) |
single nucleotide variant |
not provided [RCV001881758] |
Chr10:101010434 [GRCh38] Chr10:102770191 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1090G>C (p.Gly364Arg) |
single nucleotide variant |
not provided [RCV001883844] |
Chr10:101019056 [GRCh38] Chr10:102778813 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1355C>T (p.Ser452Leu) |
single nucleotide variant |
not provided [RCV001942348] |
Chr10:101018266 [GRCh38] Chr10:102778023 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.502C>T (p.Arg168Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003289408]|not provided [RCV002038974] |
Chr10:101023476 [GRCh38] Chr10:102783233 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1094G>A (p.Arg365Gln) |
single nucleotide variant |
not provided [RCV001997765] |
Chr10:101019052 [GRCh38] Chr10:102778809 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1323G>C (p.Trp441Cys) |
single nucleotide variant |
not provided [RCV002049584] |
Chr10:101018823 [GRCh38] Chr10:102778580 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.652G>T (p.Asp218Tyr) |
single nucleotide variant |
not provided [RCV001867497] |
Chr10:101022276 [GRCh38] Chr10:102782033 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2462del (p.Pro821fs) |
deletion |
not provided [RCV002037732] |
Chr10:101010427 [GRCh38] Chr10:102770184 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.741C>A (p.Ala247=) |
single nucleotide variant |
not provided [RCV001888083] |
Chr10:101021924 [GRCh38] Chr10:102781681 [GRCh37] Chr10:10q24.31 |
likely benign|uncertain significance |
NM_001195263.2(PDZD7):c.1907C>T (p.Ala636Val) |
single nucleotide variant |
not provided [RCV002028557] |
Chr10:101011951 [GRCh38] Chr10:102771708 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2188A>G (p.Ile730Val) |
single nucleotide variant |
not provided [RCV001974407] |
Chr10:101010701 [GRCh38] Chr10:102770458 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.59G>A (p.Gly20Asp) |
single nucleotide variant |
not provided [RCV002033620] |
Chr10:101030161 [GRCh38] Chr10:102789918 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2843G>C (p.Arg948Thr) |
single nucleotide variant |
not provided [RCV001879486] |
Chr10:101008726 [GRCh38] Chr10:102768483 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.958C>T (p.Pro320Ser) |
single nucleotide variant |
not provided [RCV002035810] |
Chr10:101019188 [GRCh38] Chr10:102778945 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2239C>T (p.Arg747Trp) |
single nucleotide variant |
not provided [RCV001962690] |
Chr10:101010650 [GRCh38] Chr10:102770407 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1213G>C (p.Gly405Arg) |
single nucleotide variant |
not provided [RCV002017427] |
Chr10:101018933 [GRCh38] Chr10:102778690 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del) |
deletion |
not provided [RCV001919989] |
Chr10:101008771..101008773 [GRCh38] Chr10:102768528..102768530 [GRCh37] Chr10:10q24.31 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001195263.2(PDZD7):c.2568dup (p.Ser857fs) |
duplication |
not provided [RCV002000152] |
Chr10:101010320..101010321 [GRCh38] Chr10:102770077..102770078 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.196C>T (p.Arg66Cys) |
single nucleotide variant |
not provided [RCV002009957] |
Chr10:101030024 [GRCh38] Chr10:102789781 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1198G>A (p.Asp400Asn) |
single nucleotide variant |
not provided [RCV002033847] |
Chr10:101018948 [GRCh38] Chr10:102778705 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.29A>G (p.Asp10Gly) |
single nucleotide variant |
not provided [RCV001961710] |
Chr10:101030191 [GRCh38] Chr10:102789948 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1591G>A (p.Ala531Thr) |
single nucleotide variant |
not provided [RCV001901508] |
Chr10:101015794 [GRCh38] Chr10:102775551 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.312C>G (p.Gly104=) |
single nucleotide variant |
not provided [RCV001888408] |
Chr10:101023983 [GRCh38] Chr10:102783740 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1871G>A (p.Arg624His) |
single nucleotide variant |
not provided [RCV001955460] |
Chr10:101011987 [GRCh38] Chr10:102771744 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1363C>T (p.Pro455Ser) |
single nucleotide variant |
not provided [RCV001899017] |
Chr10:101018258 [GRCh38] Chr10:102778015 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.727C>A (p.His243Asn) |
single nucleotide variant |
not provided [RCV002030878] |
Chr10:101021938 [GRCh38] Chr10:102781695 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.109T>C (p.Ser37Pro) |
single nucleotide variant |
not provided [RCV001951731] |
Chr10:101030111 [GRCh38] Chr10:102789868 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1449C>A (p.Asp483Glu) |
single nucleotide variant |
not provided [RCV001955622] |
Chr10:101018172 [GRCh38] Chr10:102777929 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.989C>G (p.Ser330Trp) |
single nucleotide variant |
not provided [RCV002028338] |
Chr10:101019157 [GRCh38] Chr10:102778914 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1060G>A (p.Glu354Lys) |
single nucleotide variant |
not provided [RCV001902112] |
Chr10:101019086 [GRCh38] Chr10:102778843 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2148del (p.Leu717fs) |
deletion |
not provided [RCV001903227] |
Chr10:101010741 [GRCh38] Chr10:102770498 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.877C>T (p.Arg293Trp) |
single nucleotide variant |
not provided [RCV001877721] |
Chr10:101020669 [GRCh38] Chr10:102780426 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.959C>T (p.Pro320Leu) |
single nucleotide variant |
not provided [RCV002028638] |
Chr10:101019187 [GRCh38] Chr10:102778944 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1489G>T (p.Ala497Ser) |
single nucleotide variant |
not provided [RCV002013508] |
Chr10:101018132 [GRCh38] Chr10:102777889 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1228T>G (p.Ser410Ala) |
single nucleotide variant |
not provided [RCV001935920] |
Chr10:101018918 [GRCh38] Chr10:102778675 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2346_2357dup (p.Arg783_Arg786dup) |
duplication |
not provided [RCV002009545] |
Chr10:101010531..101010532 [GRCh38] Chr10:102770288..102770289 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2142C>G (p.Ile714Met) |
single nucleotide variant |
not provided [RCV001990317] |
Chr10:101010747 [GRCh38] Chr10:102770504 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3015G>C (p.Arg1005Ser) |
single nucleotide variant |
not provided [RCV002013469] |
Chr10:101008554 [GRCh38] Chr10:102768311 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1A>G (p.Met1Val) |
single nucleotide variant |
not provided [RCV001867738] |
Chr10:101030219 [GRCh38] Chr10:102789976 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3073A>G (p.Lys1025Glu) |
single nucleotide variant |
not provided [RCV001991569] |
Chr10:101008496 [GRCh38] Chr10:102768253 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.432del (p.Thr145fs) |
deletion |
not provided [RCV001934231] |
Chr10:101023546 [GRCh38] Chr10:102783303 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.167G>A (p.Arg56His) |
single nucleotide variant |
not provided [RCV001902781] |
Chr10:101030053 [GRCh38] Chr10:102789810 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.176G>C (p.Arg59Pro) |
single nucleotide variant |
not provided [RCV001881886] |
Chr10:101030044 [GRCh38] Chr10:102789801 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2356C>T (p.Arg786Trp) |
single nucleotide variant |
not provided [RCV002031789] |
Chr10:101010533 [GRCh38] Chr10:102770290 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2446C>T (p.Arg816Trp) |
single nucleotide variant |
not provided [RCV001897313] |
Chr10:101010443 [GRCh38] Chr10:102770200 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3059_3062del (p.Gln1020fs) |
deletion |
not provided [RCV001922850] |
Chr10:101008507..101008510 [GRCh38] Chr10:102768264..102768267 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2846T>A (p.Val949Asp) |
single nucleotide variant |
not provided [RCV001989391] |
Chr10:101008723 [GRCh38] Chr10:102768480 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2246A>T (p.Asn749Ile) |
single nucleotide variant |
not provided [RCV001900094] |
Chr10:101010643 [GRCh38] Chr10:102770400 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2890C>G (p.Leu964Val) |
single nucleotide variant |
not provided [RCV002047849] |
Chr10:101008679 [GRCh38] Chr10:102768436 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2705G>A (p.Ser902Asn) |
single nucleotide variant |
not provided [RCV002016669] |
Chr10:101009263 [GRCh38] Chr10:102769020 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.494G>T (p.Arg165Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002573367]|not provided [RCV001977265] |
Chr10:101023484 [GRCh38] Chr10:102783241 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1123G>A (p.Asp375Asn) |
single nucleotide variant |
not provided [RCV002016735] |
Chr10:101019023 [GRCh38] Chr10:102778780 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1132_1134del (p.Gly378del) |
deletion |
not provided [RCV002028111] |
Chr10:101019012..101019014 [GRCh38] Chr10:102778769..102778771 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.91C>A (p.Leu31Ile) |
single nucleotide variant |
not provided [RCV001882148] |
Chr10:101030129 [GRCh38] Chr10:102789886 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.227-14C>A |
single nucleotide variant |
not provided [RCV001976464] |
Chr10:101024082 [GRCh38] Chr10:102783839 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2273G>A (p.Arg758Gln) |
single nucleotide variant |
not provided [RCV001981753] |
Chr10:101010616 [GRCh38] Chr10:102770373 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2006-1G>A |
single nucleotide variant |
not provided [RCV001999509] |
Chr10:101010884 [GRCh38] Chr10:102770641 [GRCh37] Chr10:10q24.31 |
likely pathogenic |
NM_001195263.2(PDZD7):c.1573+4A>T |
single nucleotide variant |
not provided [RCV001991265] |
Chr10:101016373 [GRCh38] Chr10:102776130 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1693G>T (p.Ala565Ser) |
single nucleotide variant |
not provided [RCV001937177] |
Chr10:101015692 [GRCh38] Chr10:102775449 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.581G>A (p.Cys194Tyr) |
single nucleotide variant |
not provided [RCV001981866] |
Chr10:101022347 [GRCh38] Chr10:102782104 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1811C>A (p.Pro604Gln) |
single nucleotide variant |
not provided [RCV002019548] |
Chr10:101012197 [GRCh38] Chr10:102771954 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[3] (p.773RS[8]) |
microsatellite |
not provided [RCV001940423] |
Chr10:101010546..101010547 [GRCh38] Chr10:102770303..102770304 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1936C>T (p.Arg646Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002548005]|not provided [RCV001907106] |
Chr10:101011759 [GRCh38] Chr10:102771516 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2762A>G (p.Gln921Arg) |
single nucleotide variant |
not provided [RCV001994217] |
Chr10:101008807 [GRCh38] Chr10:102768564 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1529dup (p.Val511fs) |
duplication |
not provided [RCV001958722] |
Chr10:101016420..101016421 [GRCh38] Chr10:102776177..102776178 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.1222del (p.Asp409fs) |
deletion |
not provided [RCV001960568] |
Chr10:101018924 [GRCh38] Chr10:102778681 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2440A>T (p.Lys814Ter) |
single nucleotide variant |
not provided [RCV001958118] |
Chr10:101010449 [GRCh38] Chr10:102770206 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.323G>T (p.Gly108Val) |
single nucleotide variant |
not provided [RCV002035850] |
Chr10:101023972 [GRCh38] Chr10:102783729 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3091C>T (p.Arg1031Cys) |
single nucleotide variant |
not provided [RCV002012475] |
Chr10:101008478 [GRCh38] Chr10:102768235 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2332_2352AGCCGC[4]AGCCGTAGCCGCAGCCGCAGCCGCAGCCGCAGC[1] (p.773RS[12]) |
microsatellite |
not provided [RCV002051365] |
Chr10:101010536..101010537 [GRCh38] Chr10:102770293..102770294 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.607T>A (p.Ser203Thr) |
single nucleotide variant |
not provided [RCV001926042] |
Chr10:101022321 [GRCh38] Chr10:102782078 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2240G>A (p.Arg747Gln) |
single nucleotide variant |
not provided [RCV001870065] |
Chr10:101010649 [GRCh38] Chr10:102770406 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2998C>G (p.Pro1000Ala) |
single nucleotide variant |
not provided [RCV002046416] |
Chr10:101008571 [GRCh38] Chr10:102768328 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2725T>C (p.Phe909Leu) |
single nucleotide variant |
not provided [RCV002018688] |
Chr10:101008844 [GRCh38] Chr10:102768601 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.5C>A (p.Ala2Glu) |
single nucleotide variant |
not provided [RCV002049077] |
Chr10:101030215 [GRCh38] Chr10:102789972 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.720-17C>A |
single nucleotide variant |
not provided [RCV001952804] |
Chr10:101021962 [GRCh38] Chr10:102781719 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.510G>A (p.Pro170=) |
single nucleotide variant |
not provided [RCV002014073] |
Chr10:101023468 [GRCh38] Chr10:102783225 [GRCh37] Chr10:10q24.31 |
likely benign|uncertain significance |
NM_001195263.2(PDZD7):c.2323C>T (p.Arg775Cys) |
single nucleotide variant |
not provided [RCV002031600] |
Chr10:101010566 [GRCh38] Chr10:102770323 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.929-2A>G |
single nucleotide variant |
not provided [RCV002030558] |
Chr10:101019219 [GRCh38] Chr10:102778976 [GRCh37] Chr10:10q24.31 |
likely pathogenic |
NM_001195263.2(PDZD7):c.2794C>T (p.Arg932Cys) |
single nucleotide variant |
not provided [RCV002015114] |
Chr10:101008775 [GRCh38] Chr10:102768532 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2879A>C (p.Asp960Ala) |
single nucleotide variant |
not provided [RCV002029564] |
Chr10:101008690 [GRCh38] Chr10:102768447 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2354G>A (p.Ser785Asn) |
single nucleotide variant |
not provided [RCV002027775] |
Chr10:101010535 [GRCh38] Chr10:102770292 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2182del (p.Leu728fs) |
deletion |
not provided [RCV001993290] |
Chr10:101010707 [GRCh38] Chr10:102770464 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.509C>T (p.Pro170Leu) |
single nucleotide variant |
not provided [RCV001916499] |
Chr10:101023469 [GRCh38] Chr10:102783226 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.272A>G (p.Lys91Arg) |
single nucleotide variant |
not provided [RCV002046818] |
Chr10:101024023 [GRCh38] Chr10:102783780 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2147C>T (p.Pro716Leu) |
single nucleotide variant |
not provided [RCV002018262] |
Chr10:101010742 [GRCh38] Chr10:102770499 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1736G>A (p.Arg579His) |
single nucleotide variant |
not provided [RCV001938215] |
Chr10:101015649 [GRCh38] Chr10:102775406 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1208A>G (p.His403Arg) |
single nucleotide variant |
not provided [RCV002018854] |
Chr10:101018938 [GRCh38] Chr10:102778695 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2776C>T (p.Arg926Cys) |
single nucleotide variant |
not provided [RCV002036358] |
Chr10:101008793 [GRCh38] Chr10:102768550 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2396C>T (p.Pro799Leu) |
single nucleotide variant |
not provided [RCV002018300] |
Chr10:101010493 [GRCh38] Chr10:102770250 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2780C>T (p.Ala927Val) |
single nucleotide variant |
not provided [RCV001973774] |
Chr10:101008789 [GRCh38] Chr10:102768546 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1747C>T (p.Arg583Trp) |
single nucleotide variant |
not provided [RCV001934779] |
Chr10:101015638 [GRCh38] Chr10:102775395 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2092_2094del (p.Leu698del) |
deletion |
not provided [RCV002010620] |
Chr10:101010795..101010797 [GRCh38] Chr10:102770552..102770554 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.928+1G>A |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV003155458]|not provided [RCV002010510] |
Chr10:101020617 [GRCh38] Chr10:102780374 [GRCh37] Chr10:10q24.31 |
likely pathogenic |
NM_001195263.2(PDZD7):c.2017G>C (p.Gly673Arg) |
single nucleotide variant |
not provided [RCV001958055] |
Chr10:101010872 [GRCh38] Chr10:102770629 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1588C>G (p.Arg530Gly) |
single nucleotide variant |
not provided [RCV001917033] |
Chr10:101015797 [GRCh38] Chr10:102775554 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2795G>A (p.Arg932His) |
single nucleotide variant |
not provided [RCV001976610] |
Chr10:101008774 [GRCh38] Chr10:102768531 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1100del (p.Asp367fs) |
deletion |
not provided [RCV001994634] |
Chr10:101019046 [GRCh38] Chr10:102778803 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2798G>C (p.Arg933Pro) |
single nucleotide variant |
not provided [RCV002011013] |
Chr10:101008771 [GRCh38] Chr10:102768528 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3014_3015insACTCCTCCCTCTGATGCCAG (p.Gln1008fs) |
insertion |
not provided [RCV002011914] |
Chr10:101008554..101008555 [GRCh38] Chr10:102768311..102768312 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.584G>A (p.Gly195Asp) |
single nucleotide variant |
not provided [RCV001902045] |
Chr10:101022344 [GRCh38] Chr10:102782101 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2272C>T (p.Arg758Ter) |
single nucleotide variant |
not provided [RCV001993129] |
Chr10:101010617 [GRCh38] Chr10:102770374 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.222C>G (p.Ile74Met) |
single nucleotide variant |
not provided [RCV001921889] |
Chr10:101029998 [GRCh38] Chr10:102789755 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.440_454del (p.Gly147_Lys151del) |
deletion |
not provided [RCV001996437] |
Chr10:101023524..101023538 [GRCh38] Chr10:102783281..102783295 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1516G>C (p.Glu506Gln) |
single nucleotide variant |
not provided [RCV001876993] |
Chr10:101018105 [GRCh38] Chr10:102777862 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.176G>A (p.Arg59Gln) |
single nucleotide variant |
not provided [RCV001952604] |
Chr10:101030044 [GRCh38] Chr10:102789801 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2611T>A (p.Ser871Thr) |
single nucleotide variant |
not provided [RCV001866842] |
Chr10:101010278 [GRCh38] Chr10:102770035 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV002497945]|not provided [RCV001994227] |
Chr10:101024038 [GRCh38] Chr10:102783795 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1885G>A (p.Val629Met) |
single nucleotide variant |
not provided [RCV002033884] |
Chr10:101011973 [GRCh38] Chr10:102771730 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1215C>T (p.Gly405=) |
single nucleotide variant |
not provided [RCV002092415] |
Chr10:101018931 [GRCh38] Chr10:102778688 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1581G>A (p.Glu527=) |
single nucleotide variant |
not provided [RCV002188644] |
Chr10:101015804 [GRCh38] Chr10:102775561 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1854C>T (p.Ala618=) |
single nucleotide variant |
not provided [RCV002187797] |
Chr10:101012004 [GRCh38] Chr10:102771761 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.627C>A (p.Arg209=) |
single nucleotide variant |
not provided [RCV002189443] |
Chr10:101022301 [GRCh38] Chr10:102782058 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.198C>A (p.Arg66=) |
single nucleotide variant |
not provided [RCV002205866] |
Chr10:101030022 [GRCh38] Chr10:102789779 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.630C>T (p.Ile210=) |
single nucleotide variant |
not provided [RCV002125692] |
Chr10:101022298 [GRCh38] Chr10:102782055 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1324+11G>C |
single nucleotide variant |
not provided [RCV002145610] |
Chr10:101018811 [GRCh38] Chr10:102778568 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2652G>A (p.Val884=) |
single nucleotide variant |
not provided [RCV002124336] |
Chr10:101009316 [GRCh38] Chr10:102769073 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1324+20C>T |
single nucleotide variant |
not provided [RCV002089794] |
Chr10:101018802 [GRCh38] Chr10:102778559 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.825G>A (p.Val275=) |
single nucleotide variant |
not provided [RCV002147665] |
Chr10:101021840 [GRCh38] Chr10:102781597 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1392C>T (p.Ser464=) |
single nucleotide variant |
not provided [RCV002170321] |
Chr10:101018229 [GRCh38] Chr10:102777986 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1749+12T>A |
single nucleotide variant |
not provided [RCV002209792] |
Chr10:101015624 [GRCh38] Chr10:102775381 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1722G>A (p.Val574=) |
single nucleotide variant |
not provided [RCV002072656] |
Chr10:101015663 [GRCh38] Chr10:102775420 [GRCh37] Chr10:10q24.31 |
likely benign|conflicting interpretations of pathogenicity |
NM_001195263.2(PDZD7):c.543-18C>T |
single nucleotide variant |
not provided [RCV002169031] |
Chr10:101022403 [GRCh38] Chr10:102782160 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1841+19G>C |
single nucleotide variant |
not provided [RCV002169080] |
Chr10:101012148 [GRCh38] Chr10:102771905 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.801C>T (p.Asp267=) |
single nucleotide variant |
not provided [RCV002104889] |
Chr10:101021864 [GRCh38] Chr10:102781621 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2070G>A (p.Glu690=) |
single nucleotide variant |
not provided [RCV002076018] |
Chr10:101010819 [GRCh38] Chr10:102770576 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1329G>A (p.Glu443=) |
single nucleotide variant |
not provided [RCV002190960] |
Chr10:101018292 [GRCh38] Chr10:102778049 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.744G>A (p.Glu248=) |
single nucleotide variant |
not provided [RCV002111177] |
Chr10:101021921 [GRCh38] Chr10:102781678 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.768C>T (p.Asp256=) |
single nucleotide variant |
not provided [RCV002126205] |
Chr10:101021897 [GRCh38] Chr10:102781654 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.3030T>G (p.Thr1010=) |
single nucleotide variant |
not provided [RCV002089799] |
Chr10:101008539 [GRCh38] Chr10:102768296 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1929G>A (p.Arg643=) |
single nucleotide variant |
not provided [RCV002126796] |
Chr10:101011929 [GRCh38] Chr10:102771686 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.741C>T (p.Ala247=) |
single nucleotide variant |
not provided [RCV002169290] |
Chr10:101021924 [GRCh38] Chr10:102781681 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2853G>A (p.Gly951=) |
single nucleotide variant |
not provided [RCV002092262] |
Chr10:101008716 [GRCh38] Chr10:102768473 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1933+14G>C |
single nucleotide variant |
not provided [RCV002185811] |
Chr10:101011911 [GRCh38] Chr10:102771668 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2841C>T (p.Val947=) |
single nucleotide variant |
not provided [RCV002212481] |
Chr10:101008728 [GRCh38] Chr10:102768485 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1573+12A>G |
single nucleotide variant |
not provided [RCV002212619] |
Chr10:101016365 [GRCh38] Chr10:102776122 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.363T>C (p.Ser121=) |
single nucleotide variant |
not provided [RCV002147678] |
Chr10:101023932 [GRCh38] Chr10:102783689 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1325-16T>A |
single nucleotide variant |
not provided [RCV002134459] |
Chr10:101018312 [GRCh38] Chr10:102778069 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.660C>T (p.Phe220=) |
single nucleotide variant |
not provided [RCV002196819] |
Chr10:101022268 [GRCh38] Chr10:102782025 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2691G>A (p.Gly897=) |
single nucleotide variant |
not provided [RCV002113285] |
Chr10:101009277 [GRCh38] Chr10:102769034 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1324+11del |
deletion |
not provided [RCV002194079] |
Chr10:101018811 [GRCh38] Chr10:102778568 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.543-15C>T |
single nucleotide variant |
not provided [RCV002195190] |
Chr10:101022400 [GRCh38] Chr10:102782157 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1716C>T (p.Asp572=) |
single nucleotide variant |
not provided [RCV002130928] |
Chr10:101015669 [GRCh38] Chr10:102775426 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.543-14del |
deletion |
not provided [RCV002113787] |
Chr10:101022399 [GRCh38] Chr10:102782156 [GRCh37] Chr10:10q24.31 |
benign |
NM_001195263.2(PDZD7):c.2847C>A (p.Val949=) |
single nucleotide variant |
not provided [RCV002148799] |
Chr10:101008722 [GRCh38] Chr10:102768479 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2904C>A (p.Gly968=) |
single nucleotide variant |
not provided [RCV002081078] |
Chr10:101008665 [GRCh38] Chr10:102768422 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1206C>G (p.Pro402=) |
single nucleotide variant |
not provided [RCV002092450] |
Chr10:101018940 [GRCh38] Chr10:102778697 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.693G>A (p.Glu231=) |
single nucleotide variant |
not provided [RCV002171474] |
Chr10:101022235 [GRCh38] Chr10:102781992 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.719+7G>A |
single nucleotide variant |
not provided [RCV002212568] |
Chr10:101022202 [GRCh38] Chr10:102781959 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2618-20G>A |
single nucleotide variant |
not provided [RCV002196616] |
Chr10:101009370 [GRCh38] Chr10:102769127 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.368-8T>C |
single nucleotide variant |
not provided [RCV002078867] |
Chr10:101023618 [GRCh38] Chr10:102783375 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1131A>G (p.Gly377=) |
single nucleotide variant |
not provided [RCV002133249] |
Chr10:101019015 [GRCh38] Chr10:102778772 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.60C>G (p.Gly20=) |
single nucleotide variant |
not provided [RCV002187457] |
Chr10:101030160 [GRCh38] Chr10:102789917 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1574-20del |
deletion |
not provided [RCV002071514] |
Chr10:101015831 [GRCh38] Chr10:102775588 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.198C>T (p.Arg66=) |
single nucleotide variant |
not provided [RCV002132732] |
Chr10:101030022 [GRCh38] Chr10:102789779 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2220C>T (p.Pro740=) |
single nucleotide variant |
not provided [RCV002174475] |
Chr10:101010669 [GRCh38] Chr10:102770426 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.227-20C>T |
single nucleotide variant |
not provided [RCV002134535] |
Chr10:101024088 [GRCh38] Chr10:102783845 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.732T>A (p.Gly244=) |
single nucleotide variant |
not provided [RCV002196848] |
Chr10:101021933 [GRCh38] Chr10:102781690 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2502G>A (p.Gly834=) |
single nucleotide variant |
not provided [RCV002210457] |
Chr10:101010387 [GRCh38] Chr10:102770144 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.834G>T (p.Leu278=) |
single nucleotide variant |
not provided [RCV002193700] |
Chr10:101021831 [GRCh38] Chr10:102781588 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1368G>C (p.Gly456=) |
single nucleotide variant |
not provided [RCV002196994] |
Chr10:101018253 [GRCh38] Chr10:102778010 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1522+19A>G |
single nucleotide variant |
not provided [RCV002089242] |
Chr10:101018080 [GRCh38] Chr10:102777837 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.528G>A (p.Lys176=) |
single nucleotide variant |
not provided [RCV002194102] |
Chr10:101023450 [GRCh38] Chr10:102783207 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.543-12G>A |
single nucleotide variant |
not provided [RCV002138753] |
Chr10:101022397 [GRCh38] Chr10:102782154 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.732T>G (p.Gly244=) |
single nucleotide variant |
not provided [RCV002216626] |
Chr10:101021933 [GRCh38] Chr10:102781690 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1842-14T>C |
single nucleotide variant |
not provided [RCV002121684] |
Chr10:101012030 [GRCh38] Chr10:102771787 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.226+8C>A |
single nucleotide variant |
not provided [RCV002156191] |
Chr10:101029986 [GRCh38] Chr10:102789743 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.867+18G>C |
single nucleotide variant |
not provided [RCV002156420] |
Chr10:101021780 [GRCh38] Chr10:102781537 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2719-4C>G |
single nucleotide variant |
not provided [RCV002141704] |
Chr10:101008854 [GRCh38] Chr10:102768611 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1116G>C (p.Thr372=) |
single nucleotide variant |
not provided [RCV002204358] |
Chr10:101019030 [GRCh38] Chr10:102778787 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.780A>G (p.Ala260=) |
single nucleotide variant |
not provided [RCV002182067] |
Chr10:101021885 [GRCh38] Chr10:102781642 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.714G>A (p.Val238=) |
single nucleotide variant |
not provided [RCV002217631] |
Chr10:101022214 [GRCh38] Chr10:102781971 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2617+11G>T |
single nucleotide variant |
not provided [RCV002219555] |
Chr10:101010261 [GRCh38] Chr10:102770018 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.333C>T (p.Ile111=) |
single nucleotide variant |
not provided [RCV002144294] |
Chr10:101023962 [GRCh38] Chr10:102783719 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2781A>G (p.Ala927=) |
single nucleotide variant |
not provided [RCV002159820] |
Chr10:101008788 [GRCh38] Chr10:102768545 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1641G>C (p.Val547=) |
single nucleotide variant |
not provided [RCV002184786] |
Chr10:101015744 [GRCh38] Chr10:102775501 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1998C>T (p.Pro666=) |
single nucleotide variant |
not provided [RCV002160142] |
Chr10:101011697 [GRCh38] Chr10:102771454 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.929-12T>C |
single nucleotide variant |
not provided [RCV002181892] |
Chr10:101019229 [GRCh38] Chr10:102778986 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.897G>A (p.Glu299=) |
single nucleotide variant |
not provided [RCV002176157] |
Chr10:101020649 [GRCh38] Chr10:102780406 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2397G>T (p.Pro799=) |
single nucleotide variant |
not provided [RCV002156755] |
Chr10:101010492 [GRCh38] Chr10:102770249 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1398G>A (p.Thr466=) |
single nucleotide variant |
not provided [RCV002158768] |
Chr10:101018223 [GRCh38] Chr10:102777980 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1842-13C>T |
single nucleotide variant |
not provided [RCV002143666] |
Chr10:101012029 [GRCh38] Chr10:102771786 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2718+10G>A |
single nucleotide variant |
not provided [RCV002164083] |
Chr10:101009240 [GRCh38] Chr10:102768997 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.60C>T (p.Gly20=) |
single nucleotide variant |
not provided [RCV002200839] |
Chr10:101030160 [GRCh38] Chr10:102789917 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.18A>G (p.Ala6=) |
single nucleotide variant |
not provided [RCV002164566] |
Chr10:101030202 [GRCh38] Chr10:102789959 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.105A>T (p.Ser35=) |
single nucleotide variant |
not provided [RCV002177017] |
Chr10:101030115 [GRCh38] Chr10:102789872 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.954G>A (p.Leu318=) |
single nucleotide variant |
not provided [RCV002179197] |
Chr10:101019192 [GRCh38] Chr10:102778949 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.867+11C>T |
single nucleotide variant |
not provided [RCV002161478] |
Chr10:101021787 [GRCh38] Chr10:102781544 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.213C>T (p.Asn71=) |
single nucleotide variant |
not provided [RCV002139540] |
Chr10:101030007 [GRCh38] Chr10:102789764 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.227-20C>G |
single nucleotide variant |
not provided [RCV002182891] |
Chr10:101024088 [GRCh38] Chr10:102783845 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1290C>A (p.Pro430=) |
single nucleotide variant |
not provided [RCV002141327] |
Chr10:101018856 [GRCh38] Chr10:102778613 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.651C>T (p.Ser217=) |
single nucleotide variant |
not provided [RCV002203309] |
Chr10:101022277 [GRCh38] Chr10:102782034 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1749+19C>T |
single nucleotide variant |
not provided [RCV002140810] |
Chr10:101015617 [GRCh38] Chr10:102775374 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1749+19C>G |
single nucleotide variant |
not provided [RCV002161646] |
Chr10:101015617 [GRCh38] Chr10:102775374 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1401G>A (p.Leu467=) |
single nucleotide variant |
not provided [RCV002179425] |
Chr10:101018220 [GRCh38] Chr10:102777977 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.321T>C (p.His107=) |
single nucleotide variant |
not provided [RCV002143137] |
Chr10:101023974 [GRCh38] Chr10:102783731 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2916C>T (p.Asp972=) |
single nucleotide variant |
not provided [RCV002199828] |
Chr10:101008653 [GRCh38] Chr10:102768410 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.471C>T (p.Ser157=) |
single nucleotide variant |
not provided [RCV002100348] |
Chr10:101023507 [GRCh38] Chr10:102783264 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2460C>T (p.Pro820=) |
single nucleotide variant |
not provided [RCV002200259] |
Chr10:101010429 [GRCh38] Chr10:102770186 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1302C>T (p.Ser434=) |
single nucleotide variant |
not provided [RCV002179779] |
Chr10:101018844 [GRCh38] Chr10:102778601 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.597C>T (p.Ser199=) |
single nucleotide variant |
not provided [RCV002184035] |
Chr10:101022331 [GRCh38] Chr10:102782088 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2617+16A>C |
single nucleotide variant |
not provided [RCV002217855] |
Chr10:101010256 [GRCh38] Chr10:102770013 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.370C>A (p.Arg124=) |
single nucleotide variant |
not provided [RCV002160999] |
Chr10:101023608 [GRCh38] Chr10:102783365 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.543-17C>G |
single nucleotide variant |
not provided [RCV002201421] |
Chr10:101022402 [GRCh38] Chr10:102782159 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.385G>A (p.Val129Met) |
single nucleotide variant |
not provided [RCV003117229] |
Chr10:101023593 [GRCh38] Chr10:102783350 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1739A>C (p.His580Pro) |
single nucleotide variant |
not provided [RCV002265392] |
Chr10:101015646 [GRCh38] Chr10:102775403 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.769C>A (p.Gln257Lys) |
single nucleotide variant |
not provided [RCV002279091] |
Chr10:101021896 [GRCh38] Chr10:102781653 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2237T>A (p.Leu746Gln) |
single nucleotide variant |
not provided [RCV002274760] |
Chr10:101010652 [GRCh38] Chr10:102770409 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2068G>A (p.Glu690Lys) |
single nucleotide variant |
not provided [RCV002274642] |
Chr10:101010821 [GRCh38] Chr10:102770578 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2012G>T (p.Arg671Leu) |
single nucleotide variant |
not provided [RCV002297078] |
Chr10:101010877 [GRCh38] Chr10:102770634 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1340G>A (p.Arg447Gln) |
single nucleotide variant |
not provided [RCV002297367] |
Chr10:101018281 [GRCh38] Chr10:102778038 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.215C>T (p.Ser72Phe) |
single nucleotide variant |
not provided [RCV002303441] |
Chr10:101030005 [GRCh38] Chr10:102789762 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.565C>T (p.Leu189=) |
single nucleotide variant |
not provided [RCV002474035] |
Chr10:101022363 [GRCh38] Chr10:102782120 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.668del (p.Gly223fs) |
deletion |
Hearing loss, autosomal recessive 57 [RCV002470580] |
Chr10:101022260 [GRCh38] Chr10:102782017 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.90C>G (p.His30Gln) |
single nucleotide variant |
not provided [RCV002303592] |
Chr10:101030130 [GRCh38] Chr10:102789887 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.71C>T (p.Ser24Phe) |
single nucleotide variant |
not provided [RCV002301390] |
Chr10:101030149 [GRCh38] Chr10:102789906 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3062C>T (p.Thr1021Ile) |
single nucleotide variant |
not provided [RCV002300920] |
Chr10:101008507 [GRCh38] Chr10:102768264 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.190A>C (p.Met64Leu) |
single nucleotide variant |
not provided [RCV002295572] |
Chr10:101030030 [GRCh38] Chr10:102789787 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3083C>A (p.Pro1028His) |
single nucleotide variant |
not provided [RCV002299102] |
Chr10:101008486 [GRCh38] Chr10:102768243 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2864G>A (p.Arg955Gln) |
single nucleotide variant |
not provided [RCV002614473] |
Chr10:101008705 [GRCh38] Chr10:102768462 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2719-10C>T |
single nucleotide variant |
not provided [RCV002731210] |
Chr10:101008860 [GRCh38] Chr10:102768617 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.928+21A>T |
single nucleotide variant |
not provided [RCV002816335] |
Chr10:101020597 [GRCh38] Chr10:102780354 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.983_1003dup (p.Ser334_Ala335insValSerSerCysAlaSerSer) |
duplication |
not provided [RCV002771623] |
Chr10:101019142..101019143 [GRCh38] Chr10:102778899..102778900 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.166C>T (p.Arg56Cys) |
single nucleotide variant |
not provided [RCV002730964] |
Chr10:101030054 [GRCh38] Chr10:102789811 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.385G>T (p.Val129Leu) |
single nucleotide variant |
not provided [RCV002614830] |
Chr10:101023593 [GRCh38] Chr10:102783350 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.82del (p.Arg28fs) |
deletion |
not provided [RCV002815719] |
Chr10:101030138 [GRCh38] Chr10:102789895 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2030T>C (p.Leu677Pro) |
single nucleotide variant |
not provided [RCV002838555] |
Chr10:101010859 [GRCh38] Chr10:102770616 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1749+10C>G |
single nucleotide variant |
not provided [RCV002880542] |
Chr10:101015626 [GRCh38] Chr10:102775383 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.606C>T (p.Ser202=) |
single nucleotide variant |
not provided [RCV002862055] |
Chr10:101022322 [GRCh38] Chr10:102782079 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.439G>A (p.Gly147Ser) |
single nucleotide variant |
not provided [RCV002731409] |
Chr10:101023539 [GRCh38] Chr10:102783296 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.227-13C>G |
single nucleotide variant |
not provided [RCV002686069] |
Chr10:101024081 [GRCh38] Chr10:102783838 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2480A>T (p.Asp827Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002733081] |
Chr10:101010409 [GRCh38] Chr10:102770166 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.929-8C>T |
single nucleotide variant |
not provided [RCV002618919] |
Chr10:101019225 [GRCh38] Chr10:102778982 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2460C>A (p.Pro820=) |
single nucleotide variant |
not provided [RCV002866115] |
Chr10:101010429 [GRCh38] Chr10:102770186 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.15C>T (p.Phe5=) |
single nucleotide variant |
not provided [RCV002755232] |
Chr10:101030205 [GRCh38] Chr10:102789962 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2827A>G (p.Met943Val) |
single nucleotide variant |
not provided [RCV003017753] |
Chr10:101008742 [GRCh38] Chr10:102768499 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1285C>T (p.Pro429Ser) |
single nucleotide variant |
not provided [RCV002636235] |
Chr10:101018861 [GRCh38] Chr10:102778618 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.178G>C (p.Ala60Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002882684] |
Chr10:101030042 [GRCh38] Chr10:102789799 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2415del (p.Ser806fs) |
deletion |
not provided [RCV003034574] |
Chr10:101010474 [GRCh38] Chr10:102770231 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2728G>A (p.Glu910Lys) |
single nucleotide variant |
not provided [RCV003099037] |
Chr10:101008841 [GRCh38] Chr10:102768598 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.169G>A (p.Gly57Arg) |
single nucleotide variant |
not provided [RCV002863216] |
Chr10:101030051 [GRCh38] Chr10:102789808 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1656G>A (p.Gln552=) |
single nucleotide variant |
not provided [RCV002839551] |
Chr10:101015729 [GRCh38] Chr10:102775486 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2591C>T (p.Thr864Ile) |
single nucleotide variant |
not provided [RCV003017383] |
Chr10:101010298 [GRCh38] Chr10:102770055 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2248T>C (p.Trp750Arg) |
single nucleotide variant |
not provided [RCV002690355] |
Chr10:101010641 [GRCh38] Chr10:102770398 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.615T>C (p.Asp205=) |
single nucleotide variant |
not provided [RCV002880452] |
Chr10:101022313 [GRCh38] Chr10:102782070 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2192C>T (p.Ala731Val) |
single nucleotide variant |
not provided [RCV002751298] |
Chr10:101010697 [GRCh38] Chr10:102770454 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2133del (p.His711fs) |
deletion |
not provided [RCV003013959] |
Chr10:101010756 [GRCh38] Chr10:102770513 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.736C>T (p.Leu246=) |
single nucleotide variant |
not provided [RCV003074580] |
Chr10:101021929 [GRCh38] Chr10:102781686 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.117_121del (p.Thr40fs) |
deletion |
not provided [RCV002755189] |
Chr10:101030099..101030103 [GRCh38] Chr10:102789856..102789860 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2224G>A (p.Ala742Thr) |
single nucleotide variant |
not provided [RCV003073872] |
Chr10:101010665 [GRCh38] Chr10:102770422 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1574-5T>A |
single nucleotide variant |
not provided [RCV002839336] |
Chr10:101015816 [GRCh38] Chr10:102775573 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.875G>A (p.Gly292Asp) |
single nucleotide variant |
not provided [RCV002838478] |
Chr10:101020671 [GRCh38] Chr10:102780428 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2028G>C (p.Leu676=) |
single nucleotide variant |
not provided [RCV002726185] |
Chr10:101010861 [GRCh38] Chr10:102770618 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2928_2945del (p.His977_Ala982del) |
deletion |
not provided [RCV002972271] |
Chr10:101008624..101008641 [GRCh38] Chr10:102768381..102768398 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2772C>A (p.His924Gln) |
single nucleotide variant |
not provided [RCV002730159] |
Chr10:101008797 [GRCh38] Chr10:102768554 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.23G>A (p.Gly8Asp) |
single nucleotide variant |
not provided [RCV002819578] |
Chr10:101030197 [GRCh38] Chr10:102789954 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.822C>T (p.Ala274=) |
single nucleotide variant |
not provided [RCV002618075] |
Chr10:101021843 [GRCh38] Chr10:102781600 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.3021C>T (p.Leu1007=) |
single nucleotide variant |
not provided [RCV002750660] |
Chr10:101008548 [GRCh38] Chr10:102768305 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1697A>G (p.Gln566Arg) |
single nucleotide variant |
not provided [RCV003034318] |
Chr10:101015688 [GRCh38] Chr10:102775445 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.928+14A>T |
single nucleotide variant |
not provided [RCV003013982] |
Chr10:101020604 [GRCh38] Chr10:102780361 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.961G>A (p.Ala321Thr) |
single nucleotide variant |
not provided [RCV002613706] |
Chr10:101019185 [GRCh38] Chr10:102778942 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1372A>G (p.Lys458Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002777881] |
Chr10:101018249 [GRCh38] Chr10:102778006 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2459C>G (p.Pro820Arg) |
single nucleotide variant |
not provided [RCV003076153] |
Chr10:101010430 [GRCh38] Chr10:102770187 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2618-10_2618-9del |
deletion |
not provided [RCV002991390] |
Chr10:101009359..101009360 [GRCh38] Chr10:102769116..102769117 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1036C>A (p.Arg346Ser) |
single nucleotide variant |
not provided [RCV003038773] |
Chr10:101019110 [GRCh38] Chr10:102778867 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1128G>A (p.Ala376=) |
single nucleotide variant |
not provided [RCV003022057] |
Chr10:101019018 [GRCh38] Chr10:102778775 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2431C>G (p.Arg811Gly) |
single nucleotide variant |
not provided [RCV003039239] |
Chr10:101010458 [GRCh38] Chr10:102770215 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2436C>T (p.Tyr812=) |
single nucleotide variant |
not provided [RCV003021428] |
Chr10:101010453 [GRCh38] Chr10:102770210 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2888C>G (p.Ala963Gly) |
single nucleotide variant |
not provided [RCV003021748] |
Chr10:101008681 [GRCh38] Chr10:102768438 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.883C>T (p.Pro295Ser) |
single nucleotide variant |
not provided [RCV003003184] |
Chr10:101020663 [GRCh38] Chr10:102780420 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.979A>G (p.Ser327Gly) |
single nucleotide variant |
not provided [RCV002761252] |
Chr10:101019167 [GRCh38] Chr10:102778924 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2992_2993del (p.Gln998fs) |
deletion |
not provided [RCV002821023] |
Chr10:101008576..101008577 [GRCh38] Chr10:102768333..102768334 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2082del (p.Leu695fs) |
deletion |
not provided [RCV002867571] |
Chr10:101010807 [GRCh38] Chr10:102770564 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2847C>T (p.Val949=) |
single nucleotide variant |
not provided [RCV002847633] |
Chr10:101008722 [GRCh38] Chr10:102768479 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2991C>A (p.Pro997=) |
single nucleotide variant |
not provided [RCV002871198] |
Chr10:101008578 [GRCh38] Chr10:102768335 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1937G>A (p.Arg646Gln) |
single nucleotide variant |
not provided [RCV002591033] |
Chr10:101011758 [GRCh38] Chr10:102771515 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1684C>T (p.Gln562Ter) |
single nucleotide variant |
not provided [RCV003018138] |
Chr10:101015701 [GRCh38] Chr10:102775458 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2202C>G (p.Pro734=) |
single nucleotide variant |
not provided [RCV002639070] |
Chr10:101010687 [GRCh38] Chr10:102770444 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.159G>T (p.Gly53=) |
single nucleotide variant |
not provided [RCV002620710] |
Chr10:101030061 [GRCh38] Chr10:102789818 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.720-5C>T |
single nucleotide variant |
not provided [RCV002796701] |
Chr10:101021950 [GRCh38] Chr10:102781707 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2968C>T (p.Leu990Phe) |
single nucleotide variant |
not provided [RCV002975740] |
Chr10:101008601 [GRCh38] Chr10:102768358 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2818C>T (p.Arg940Trp) |
single nucleotide variant |
not provided [RCV002780253] |
Chr10:101008751 [GRCh38] Chr10:102768508 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2158G>A (p.Val720Met) |
single nucleotide variant |
not provided [RCV002824644] |
Chr10:101010731 [GRCh38] Chr10:102770488 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1914G>A (p.Glu638=) |
single nucleotide variant |
not provided [RCV002662652] |
Chr10:101011944 [GRCh38] Chr10:102771701 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.166C>A (p.Arg56Ser) |
single nucleotide variant |
not provided [RCV002736587] |
Chr10:101030054 [GRCh38] Chr10:102789811 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2480A>G (p.Asp827Gly) |
single nucleotide variant |
not provided [RCV002639196] |
Chr10:101010409 [GRCh38] Chr10:102770166 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2099T>A (p.Val700Asp) |
single nucleotide variant |
not provided [RCV003021213] |
Chr10:101010790 [GRCh38] Chr10:102770547 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1841+19G>T |
single nucleotide variant |
not provided [RCV002639947] |
Chr10:101012148 [GRCh38] Chr10:102771905 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.381G>C (p.Leu127=) |
single nucleotide variant |
not provided [RCV002591251] |
Chr10:101023597 [GRCh38] Chr10:102783354 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.28G>A (p.Asp10Asn) |
single nucleotide variant |
not provided [RCV002979634] |
Chr10:101030192 [GRCh38] Chr10:102789949 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.204C>T (p.Ile68=) |
single nucleotide variant |
not provided [RCV002695724] |
Chr10:101030016 [GRCh38] Chr10:102789773 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.930_949dup (p.Gln317fs) |
duplication |
not provided [RCV002796205] |
Chr10:101019196..101019197 [GRCh38] Chr10:102778953..102778954 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.633C>T (p.Val211=) |
single nucleotide variant |
not provided [RCV002952646] |
Chr10:101022295 [GRCh38] Chr10:102782052 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2178C>G (p.Thr726=) |
single nucleotide variant |
not provided [RCV002999848] |
Chr10:101010711 [GRCh38] Chr10:102770468 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2082G>T (p.Arg694=) |
single nucleotide variant |
not provided [RCV002695870] |
Chr10:101010807 [GRCh38] Chr10:102770564 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1749+17T>A |
single nucleotide variant |
not provided [RCV002999901] |
Chr10:101015619 [GRCh38] Chr10:102775376 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2814G>A (p.Lys938=) |
single nucleotide variant |
not provided [RCV002796273] |
Chr10:101008755 [GRCh38] Chr10:102768512 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1560G>T (p.Trp520Cys) |
single nucleotide variant |
not provided [RCV002639409] |
Chr10:101016390 [GRCh38] Chr10:102776147 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2806C>G (p.Arg936Gly) |
single nucleotide variant |
not provided [RCV002691110] |
Chr10:101008763 [GRCh38] Chr10:102768520 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2387C>A (p.Ser796Tyr) |
single nucleotide variant |
not provided [RCV002695188] |
Chr10:101010502 [GRCh38] Chr10:102770259 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1341G>A (p.Arg447=) |
single nucleotide variant |
not provided [RCV002572871] |
Chr10:101018280 [GRCh38] Chr10:102778037 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.583G>A (p.Gly195Ser) |
single nucleotide variant |
not provided [RCV002597240] |
Chr10:101022345 [GRCh38] Chr10:102782102 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.175C>T (p.Arg59Ter) |
single nucleotide variant |
not provided [RCV003008293] |
Chr10:101030045 [GRCh38] Chr10:102789802 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2305C>T (p.Arg769Trp) |
single nucleotide variant |
not provided [RCV002745725] |
Chr10:101010584 [GRCh38] Chr10:102770341 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.529G>A (p.Glu177Lys) |
single nucleotide variant |
not provided [RCV002745277] |
Chr10:101023449 [GRCh38] Chr10:102783206 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1699A>C (p.Arg567=) |
single nucleotide variant |
not provided [RCV002745254] |
Chr10:101015686 [GRCh38] Chr10:102775443 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2181C>G (p.Pro727=) |
single nucleotide variant |
not provided [RCV002576301] |
Chr10:101010708 [GRCh38] Chr10:102770465 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1324+10G>A |
single nucleotide variant |
not provided [RCV003043220] |
Chr10:101018812 [GRCh38] Chr10:102778569 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2895T>C (p.Thr965=) |
single nucleotide variant |
not provided [RCV002597273] |
Chr10:101008674 [GRCh38] Chr10:102768431 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1749+6C>T |
single nucleotide variant |
not provided [RCV003043249] |
Chr10:101015630 [GRCh38] Chr10:102775387 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2034G>A (p.Pro678=) |
single nucleotide variant |
not provided [RCV002667253] |
Chr10:101010855 [GRCh38] Chr10:102770612 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2209_2211delinsAA (p.Gln737fs) |
indel |
not provided [RCV002508874] |
Chr10:101010678..101010680 [GRCh38] Chr10:102770435..102770437 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.543-18C>G |
single nucleotide variant |
not provided [RCV003041795] |
Chr10:101022403 [GRCh38] Chr10:102782160 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1220G>A (p.Arg407His) |
single nucleotide variant |
not provided [RCV002625419] |
Chr10:101018926 [GRCh38] Chr10:102778683 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2767A>G (p.Thr923Ala) |
single nucleotide variant |
not provided [RCV002741342] |
Chr10:101008802 [GRCh38] Chr10:102768559 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.952C>T (p.Leu318=) |
single nucleotide variant |
not provided [RCV002850887] |
Chr10:101019194 [GRCh38] Chr10:102778951 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.13T>A (p.Phe5Ile) |
single nucleotide variant |
not provided [RCV002801759] |
Chr10:101030207 [GRCh38] Chr10:102789964 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1047C>T (p.Ile349=) |
single nucleotide variant |
not provided [RCV002957480] |
Chr10:101019099 [GRCh38] Chr10:102778856 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1620C>T (p.Pro540=) |
single nucleotide variant |
not provided [RCV003022660] |
Chr10:101015765 [GRCh38] Chr10:102775522 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.3097C>T (p.Pro1033Ser) |
single nucleotide variant |
not provided [RCV002872816] |
Chr10:101008472 [GRCh38] Chr10:102768229 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2112C>T (p.Ala704=) |
single nucleotide variant |
not provided [RCV002801359] |
Chr10:101010777 [GRCh38] Chr10:102770534 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2718+19G>T |
single nucleotide variant |
not provided [RCV002852111] |
Chr10:101009231 [GRCh38] Chr10:102768988 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1842-5C>G |
single nucleotide variant |
not provided [RCV003024421] |
Chr10:101012021 [GRCh38] Chr10:102771778 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2400G>A (p.Val800=) |
single nucleotide variant |
not provided [RCV002928743] |
Chr10:101010489 [GRCh38] Chr10:102770246 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2900G>C (p.Gly967Ala) |
single nucleotide variant |
not provided [RCV002627074] |
Chr10:101008669 [GRCh38] Chr10:102768426 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2331T>G (p.Arg777=) |
single nucleotide variant |
not provided [RCV002741116] |
Chr10:101010558 [GRCh38] Chr10:102770315 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1777C>A (p.Leu593Met) |
single nucleotide variant |
not provided [RCV003056202] |
Chr10:101012231 [GRCh38] Chr10:102771988 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1619C>T (p.Pro540Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002803061] |
Chr10:101015766 [GRCh38] Chr10:102775523 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.20T>C (p.Val7Ala) |
single nucleotide variant |
not provided [RCV002917818] |
Chr10:101030200 [GRCh38] Chr10:102789957 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.930G>A (p.Leu310=) |
single nucleotide variant |
not provided [RCV002700367] |
Chr10:101019216 [GRCh38] Chr10:102778973 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1750-2A>G |
single nucleotide variant |
Hearing loss, autosomal recessive 57 [RCV003147814]|not provided [RCV003058264] |
Chr10:101012260 [GRCh38] Chr10:102772017 [GRCh37] Chr10:10q24.31 |
likely pathogenic|uncertain significance |
NM_001195263.2(PDZD7):c.1570C>A (p.Arg524Ser) |
single nucleotide variant |
not provided [RCV002918476] |
Chr10:101016380 [GRCh38] Chr10:102776137 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.851T>A (p.Ile284Asn) |
single nucleotide variant |
not provided [RCV002710809] |
Chr10:101021814 [GRCh38] Chr10:102781571 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1480G>A (p.Gly494Arg) |
single nucleotide variant |
not provided [RCV002740581] |
Chr10:101018141 [GRCh38] Chr10:102777898 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1776C>G (p.Asp592Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002787022] |
Chr10:101012232 [GRCh38] Chr10:102771989 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1749+16A>G |
single nucleotide variant |
not provided [RCV002745593] |
Chr10:101015620 [GRCh38] Chr10:102775377 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.963C>G (p.Ala321=) |
single nucleotide variant |
not provided [RCV002575260] |
Chr10:101019183 [GRCh38] Chr10:102778940 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2324G>A (p.Arg775His) |
single nucleotide variant |
not provided [RCV003085019] |
Chr10:101010565 [GRCh38] Chr10:102770322 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1314G>A (p.Leu438=) |
single nucleotide variant |
not provided [RCV002893917] |
Chr10:101018832 [GRCh38] Chr10:102778589 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.846G>A (p.Thr282=) |
single nucleotide variant |
not provided [RCV002596967] |
Chr10:101021819 [GRCh38] Chr10:102781576 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.920T>C (p.Leu307Pro) |
single nucleotide variant |
not provided [RCV002625532] |
Chr10:101020626 [GRCh38] Chr10:102780383 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1076_1078inv (p.Arg359_Gly360delinsProArg) |
inversion |
not provided [RCV002932353] |
Chr10:101019068..101019070 [GRCh38] Chr10:102778825..102778827 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.873C>T (p.Thr291=) |
single nucleotide variant |
not provided [RCV002572996] |
Chr10:101020673 [GRCh38] Chr10:102780430 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1033G>T (p.Asp345Tyr) |
single nucleotide variant |
not provided [RCV003025100] |
Chr10:101019113 [GRCh38] Chr10:102778870 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1324+16G>A |
single nucleotide variant |
not provided [RCV002828836] |
Chr10:101018806 [GRCh38] Chr10:102778563 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.880T>C (p.Tyr294His) |
single nucleotide variant |
not provided [RCV003042829] |
Chr10:101020666 [GRCh38] Chr10:102780423 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2456G>C (p.Arg819Thr) |
single nucleotide variant |
not provided [RCV003040134] |
Chr10:101010433 [GRCh38] Chr10:102770190 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1842G>A (p.Arg614=) |
single nucleotide variant |
not provided [RCV003030779] |
Chr10:101012016 [GRCh38] Chr10:102771773 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.867+17G>A |
single nucleotide variant |
not provided [RCV002720122] |
Chr10:101021781 [GRCh38] Chr10:102781538 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2618-17T>C |
single nucleotide variant |
not provided [RCV003030938] |
Chr10:101009367 [GRCh38] Chr10:102769124 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2006-18C>G |
single nucleotide variant |
not provided [RCV002715104] |
Chr10:101010901 [GRCh38] Chr10:102770658 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1054G>C (p.Gly352Arg) |
single nucleotide variant |
not provided [RCV002676598] |
Chr10:101019092 [GRCh38] Chr10:102778849 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2892T>A (p.Leu964=) |
single nucleotide variant |
not provided [RCV002962428] |
Chr10:101008677 [GRCh38] Chr10:102768434 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2426A>G (p.Asn809Ser) |
single nucleotide variant |
not provided [RCV002602675] |
Chr10:101010463 [GRCh38] Chr10:102770220 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2618-5A>G |
single nucleotide variant |
not provided [RCV003065881] |
Chr10:101009355 [GRCh38] Chr10:102769112 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2319_2324del (p.773RS[5]) |
deletion |
not provided [RCV002720749] |
Chr10:101010565..101010570 [GRCh38] Chr10:102770322..102770327 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2751_2752del (p.Asn918fs) |
microsatellite |
not provided [RCV002791756] |
Chr10:101008817..101008818 [GRCh38] Chr10:102768574..102768575 [GRCh37] Chr10:10q24.31 |
pathogenic|uncertain significance |
NM_001195263.2(PDZD7):c.2152C>T (p.Gln718Ter) |
single nucleotide variant |
not provided [RCV002671045] |
Chr10:101010737 [GRCh38] Chr10:102770494 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2807G>A (p.Arg936Gln) |
single nucleotide variant |
not provided [RCV002630562] |
Chr10:101008762 [GRCh38] Chr10:102768519 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.625C>T (p.Arg209Cys) |
single nucleotide variant |
not provided [RCV002646867] |
Chr10:101022303 [GRCh38] Chr10:102782060 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1694C>T (p.Ala565Val) |
single nucleotide variant |
not provided [RCV002716740] |
Chr10:101015691 [GRCh38] Chr10:102775448 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2048C>T (p.Pro683Leu) |
single nucleotide variant |
not provided [RCV002672094] |
Chr10:101010841 [GRCh38] Chr10:102770598 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1420_1522+812delinsA |
indel |
not provided [RCV002857626] |
Chr10:101017287..101018201 [GRCh38] Chr10:102777044..102777958 [GRCh37] Chr10:10q24.31 |
likely pathogenic |
NM_001195263.2(PDZD7):c.2620A>G (p.Ile874Val) |
single nucleotide variant |
not provided [RCV002715183] |
Chr10:101009348 [GRCh38] Chr10:102769105 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1237T>G (p.Ser413Ala) |
single nucleotide variant |
not provided [RCV002810455] |
Chr10:101018909 [GRCh38] Chr10:102778666 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.582C>A (p.Cys194Ter) |
single nucleotide variant |
not provided [RCV002649626] |
Chr10:101022346 [GRCh38] Chr10:102782103 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.1462G>A (p.Ala488Thr) |
single nucleotide variant |
not provided [RCV003044782] |
Chr10:101018159 [GRCh38] Chr10:102777916 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2794_2806del (p.Arg932fs) |
deletion |
not provided [RCV002811864] |
Chr10:101008763..101008775 [GRCh38] Chr10:102768520..102768532 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2098G>T (p.Val700Phe) |
single nucleotide variant |
not provided [RCV002598434] |
Chr10:101010791 [GRCh38] Chr10:102770548 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2618-12_2618-9del |
deletion |
not provided [RCV002601106] |
Chr10:101009359..101009362 [GRCh38] Chr10:102769116..102769119 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1056G>A (p.Gly352=) |
single nucleotide variant |
not provided [RCV002807063] |
Chr10:101019090 [GRCh38] Chr10:102778847 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1185del (p.Ala396fs) |
deletion |
not provided [RCV002811605] |
Chr10:101018961 [GRCh38] Chr10:102778718 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2006-11C>T |
single nucleotide variant |
not provided [RCV002715397] |
Chr10:101010894 [GRCh38] Chr10:102770651 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.250_251insC (p.Ile84fs) |
insertion |
not provided [RCV002937386] |
Chr10:101024044..101024045 [GRCh38] Chr10:102783801..102783802 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.275G>A (p.Ser92Asn) |
single nucleotide variant |
not provided [RCV003061920] |
Chr10:101024020 [GRCh38] Chr10:102783777 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1970C>T (p.Thr657Met) |
single nucleotide variant |
not provided [RCV003089998] |
Chr10:101011725 [GRCh38] Chr10:102771482 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2348_2349insTAGCCGCAGCCGCAGCCGCAGCCG (p.Ser784_Ser785insArgSerArgSerArgSerArgSer) |
microsatellite |
not provided [RCV002600758] |
Chr10:101010540..101010541 [GRCh38] Chr10:102770297..102770298 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1040T>G (p.Met347Arg) |
single nucleotide variant |
not provided [RCV002600998] |
Chr10:101019106 [GRCh38] Chr10:102778863 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1861G>A (p.Asp621Asn) |
single nucleotide variant |
not provided [RCV002792146] |
Chr10:101011997 [GRCh38] Chr10:102771754 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.540G>A (p.Thr180=) |
single nucleotide variant |
not provided [RCV002649789] |
Chr10:101023438 [GRCh38] Chr10:102783195 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.307G>A (p.Gly103Arg) |
single nucleotide variant |
not provided [RCV002580496] |
Chr10:101023988 [GRCh38] Chr10:102783745 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2687G>C (p.Gly896Ala) |
single nucleotide variant |
not provided [RCV002717383] |
Chr10:101009281 [GRCh38] Chr10:102769038 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1101C>G (p.Asp367Glu) |
single nucleotide variant |
not provided [RCV002628414] |
Chr10:101019045 [GRCh38] Chr10:102778802 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1016C>T (p.Ser339Leu) |
single nucleotide variant |
not provided [RCV002671629] |
Chr10:101019130 [GRCh38] Chr10:102778887 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2713C>G (p.Leu905Val) |
single nucleotide variant |
not provided [RCV003061842] |
Chr10:101009255 [GRCh38] Chr10:102769012 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2267T>C (p.Leu756Pro) |
single nucleotide variant |
not provided [RCV002811922] |
Chr10:101010622 [GRCh38] Chr10:102770379 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2713del (p.Leu905fs) |
deletion |
not provided [RCV002857519] |
Chr10:101009255 [GRCh38] Chr10:102769012 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1037G>T (p.Arg346Leu) |
single nucleotide variant |
not provided [RCV002716066] |
Chr10:101019109 [GRCh38] Chr10:102778866 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1019G>A (p.Gly340Asp) |
single nucleotide variant |
not provided [RCV002716443] |
Chr10:101019127 [GRCh38] Chr10:102778884 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.263G>A (p.Arg88Gln) |
single nucleotide variant |
not provided [RCV002635236] |
Chr10:101024032 [GRCh38] Chr10:102783789 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.891C>T (p.Tyr297=) |
single nucleotide variant |
not provided [RCV002605397] |
Chr10:101020655 [GRCh38] Chr10:102780412 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1011C>G (p.Tyr337Ter) |
single nucleotide variant |
PDZD7-Related Disorders [RCV003155499]|not provided [RCV002943484] |
Chr10:101019135 [GRCh38] Chr10:102778892 [GRCh37] Chr10:10q24.31 |
pathogenic|likely pathogenic |
NM_001195263.2(PDZD7):c.536C>T (p.Thr179Ile) |
single nucleotide variant |
not provided [RCV003032241] |
Chr10:101023442 [GRCh38] Chr10:102783199 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.853A>G (p.Met285Val) |
single nucleotide variant |
not provided [RCV003049737] |
Chr10:101021812 [GRCh38] Chr10:102781569 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1750-16C>T |
single nucleotide variant |
not provided [RCV002605048] |
Chr10:101012274 [GRCh38] Chr10:102772031 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1735C>T (p.Arg579Cys) |
single nucleotide variant |
not provided [RCV003092655] |
Chr10:101015650 [GRCh38] Chr10:102775407 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2259A>C (p.Thr753=) |
single nucleotide variant |
not provided [RCV002583759] |
Chr10:101010630 [GRCh38] Chr10:102770387 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2089G>T (p.Ala697Ser) |
single nucleotide variant |
not provided [RCV002635667] |
Chr10:101010800 [GRCh38] Chr10:102770557 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3043C>T (p.Pro1015Ser) |
single nucleotide variant |
not provided [RCV003050048] |
Chr10:101008526 [GRCh38] Chr10:102768283 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2283T>A (p.Pro761=) |
single nucleotide variant |
not provided [RCV002607421] |
Chr10:101010606 [GRCh38] Chr10:102770363 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1018G>A (p.Gly340Ser) |
single nucleotide variant |
not provided [RCV002589215] |
Chr10:101019128 [GRCh38] Chr10:102778885 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2650G>A (p.Val884Met) |
single nucleotide variant |
not provided [RCV003050002] |
Chr10:101009318 [GRCh38] Chr10:102769075 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1097C>A (p.Ala366Glu) |
single nucleotide variant |
not provided [RCV002943837] |
Chr10:101019049 [GRCh38] Chr10:102778806 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.3026del (p.Pro1009fs) |
deletion |
not provided [RCV003073285] |
Chr10:101008543 [GRCh38] Chr10:102768300 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1800C>A (p.Ile600=) |
single nucleotide variant |
not provided [RCV002586481] |
Chr10:101012208 [GRCh38] Chr10:102771965 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2209C>A (p.Gln737Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002723413] |
Chr10:101010680 [GRCh38] Chr10:102770437 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2617+11G>A |
single nucleotide variant |
not provided [RCV002652950] |
Chr10:101010261 [GRCh38] Chr10:102770018 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2236C>T (p.Leu746=) |
single nucleotide variant |
not provided [RCV002653513] |
Chr10:101010653 [GRCh38] Chr10:102770410 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.969G>A (p.Glu323=) |
single nucleotide variant |
not provided [RCV002814954] |
Chr10:101019177 [GRCh38] Chr10:102778934 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2342_2343insTAGCCGCAGCCGCAGCCG (p.Ser784_Ser785insArgSerArgSerArgSer) |
microsatellite |
not provided [RCV002609875] |
Chr10:101010546..101010547 [GRCh38] Chr10:102770303..102770304 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.199G>A (p.Val67Ile) |
single nucleotide variant |
not provided [RCV002589583] |
Chr10:101030021 [GRCh38] Chr10:102789778 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.312C>A (p.Gly104=) |
single nucleotide variant |
not provided [RCV002603984] |
Chr10:101023983 [GRCh38] Chr10:102783740 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1312C>T (p.Leu438=) |
single nucleotide variant |
not provided [RCV002585808] |
Chr10:101018834 [GRCh38] Chr10:102778591 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.473G>A (p.Arg158His) |
single nucleotide variant |
not provided [RCV002612680] |
Chr10:101023505 [GRCh38] Chr10:102783262 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.1186G>T (p.Ala396Ser) |
single nucleotide variant |
not provided [RCV002612722] |
Chr10:101018960 [GRCh38] Chr10:102778717 [GRCh37] Chr10:10q24.31 |
uncertain significance |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) |
copy number gain |
Distal trisomy 10q [RCV003319593] |
Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) |
copy number loss |
Distal 10q deletion syndrome [RCV003319583] |
Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
NM_001195263.2(PDZD7):c.2495_2557dup (p.Ala852_Met853insLysValGlyAlaLysGlnGlyProSerGluSerGlyThrGluGlyThrAlaLysGluAlaAla) |
duplication |
not provided [RCV003325742] |
Chr10:101010331..101010332 [GRCh38] Chr10:102770088..102770089 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2473C>T (p.Pro825Ser) |
single nucleotide variant |
not provided [RCV003325801] |
Chr10:101010416 [GRCh38] Chr10:102770173 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2159T>G (p.Val720Gly) |
single nucleotide variant |
not provided [RCV003571207] |
Chr10:101010730 [GRCh38] Chr10:102770487 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2694C>A (p.Ala898=) |
single nucleotide variant |
not provided [RCV003543423] |
Chr10:101009274 [GRCh38] Chr10:102769031 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.680G>T (p.Arg227Leu) |
single nucleotide variant |
not provided [RCV003875351] |
Chr10:101022248 [GRCh38] Chr10:102782005 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.402G>A (p.Thr134=) |
single nucleotide variant |
not provided [RCV003874773] |
Chr10:101023576 [GRCh38] Chr10:102783333 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1095G>C (p.Arg365=) |
single nucleotide variant |
not provided [RCV003569128] |
Chr10:101019051 [GRCh38] Chr10:102778808 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.297_304dup (p.Arg102fs) |
duplication |
not provided [RCV003686235] |
Chr10:101023990..101023991 [GRCh38] Chr10:102783747..102783748 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.1841+2T>A |
single nucleotide variant |
not provided [RCV003456719] |
Chr10:101012165 [GRCh38] Chr10:102771922 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.175_182del (p.Arg59fs) |
deletion |
PDZD7-related condition [RCV003391362] |
Chr10:101030038..101030045 [GRCh38] Chr10:102789795..102789802 [GRCh37] Chr10:10q24.31 |
likely pathogenic |
NM_001195263.2(PDZD7):c.2027_2028del (p.Leu676fs) |
deletion |
not provided [RCV003574526] |
Chr10:101010861..101010862 [GRCh38] Chr10:102770618..102770619 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.1749+2T>G |
single nucleotide variant |
not provided [RCV003688789] |
Chr10:101015634 [GRCh38] Chr10:102775391 [GRCh37] Chr10:10q24.31 |
likely pathogenic |
NM_001195263.2(PDZD7):c.1574-18A>G |
single nucleotide variant |
not provided [RCV003715156] |
Chr10:101015829 [GRCh38] Chr10:102775586 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1320G>C (p.Leu440Phe) |
single nucleotide variant |
not provided [RCV003659781] |
Chr10:101018826 [GRCh38] Chr10:102778583 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.2946T>C (p.Ala982=) |
single nucleotide variant |
not provided [RCV003661632] |
Chr10:101008623 [GRCh38] Chr10:102768380 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2394C>T (p.Ser798=) |
single nucleotide variant |
not provided [RCV003687380] |
Chr10:101010495 [GRCh38] Chr10:102770252 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.928+20C>G |
single nucleotide variant |
not provided [RCV003713848] |
Chr10:101020598 [GRCh38] Chr10:102780355 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.2246A>C (p.Asn749Thr) |
single nucleotide variant |
not provided [RCV003713837] |
Chr10:101010643 [GRCh38] Chr10:102770400 [GRCh37] Chr10:10q24.31 |
uncertain significance |
NM_001195263.2(PDZD7):c.189_196dup (p.Arg66fs) |
duplication |
not provided [RCV003713796] |
Chr10:101030023..101030024 [GRCh38] Chr10:102789780..102789781 [GRCh37] Chr10:10q24.31 |
pathogenic |
NM_001195263.2(PDZD7):c.2220C>G (p.Pro740=) |
single nucleotide variant |
not provided [RCV003689349] |
Chr10:101010669 [GRCh38] Chr10:102770426 [GRCh37] Chr10:10q24.31 |
likely benign |
NM_001195263.2(PDZD7):c.1836C>T (p.Asp612=) |
single nucleotide variant |
not provided [RCV003715650] |
Chr10:101012172 [GRCh38] Chr10:102771929 [GRCh37] Chr10:10q24.31 |
likely benign |