| NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000546849]|not provided [RCV003480691] |
Chr5:141573751 [GRCh38]
Chr5:140953318 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3003C>G (p.Ile1001Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000549611] |
Chr5:141528717 [GRCh38]
Chr5:140908284 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000554102]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001157174]|not provided [RCV001562152]|not specified [RCV001195316] |
Chr5:141573865 [GRCh38]
Chr5:140953432 [GRCh37]
Chr5:5q31.3 |
benign|likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.118-9G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000547762] |
Chr5:141588259 [GRCh38]
Chr5:140967826 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000526185]|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV001420579] |
Chr5:141577486 [GRCh38]
Chr5:140957053 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000524722]|not provided [RCV001548203]|not specified [RCV001195574] |
Chr5:141574191 [GRCh38]
Chr5:140953758 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.3701C>T (p.Ala1234Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000548020] |
Chr5:141516969 [GRCh38]
Chr5:140896536 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3574+6G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001043216]|not specified [RCV000602632] |
Chr5:141526032 [GRCh38]
Chr5:140905599 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2877T>G (p.Ser959=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000546409] |
Chr5:141528843 [GRCh38]
Chr5:140908410 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652763]|Inborn genetic diseases [RCV002525173]|not provided [RCV001722443]|not specified [RCV000519502] |
Chr5:141573692 [GRCh38]
Chr5:140953259 [GRCh37]
Chr5:5q31.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005219.5(DIAPH1):c.2778+10G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000531091] |
Chr5:141529162 [GRCh38]
Chr5:140908729 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.4(DIAPH1):c.3439-3del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000548821]|not specified [RCV000825326] |
Chr5:141526176 [GRCh38]
Chr5:140905743 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000542384]|DIAPH1-related disorder [RCV003962604]|not provided [RCV003736815] |
Chr5:141516995 [GRCh38]
Chr5:140896562 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.117+14C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000290333]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001515786]|not provided [RCV001636625]|not specified [RCV000038367] |
Chr5:141618784 [GRCh38]
Chr5:140998351 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.1397-14C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002054697]|not specified [RCV000038368] |
Chr5:141576308 [GRCh38]
Chr5:140955875 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3096C>T (p.Pro1032=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000898577]|not provided [RCV004704827]|not specified [RCV000038369] |
Chr5:141528505 [GRCh38]
Chr5:140908072 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000328272]|Autosomal dominant nonsyndromic hearing loss 1 [RCV000527069]|not provided [RCV000991922]|not specified [RCV000038370] |
Chr5:141524225 [GRCh38]
Chr5:140903792 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.687T>C (p.Phe229=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001087303]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001155599]|not provided [RCV000827061]|not specified [RCV000038371] |
Chr5:141580881 [GRCh38]
Chr5:140960448 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 |
copy number gain |
See cases [RCV000051193] |
Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2 |
pathogenic |
| NM_005219.5(DIAPH1):c.3661+1G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000007963]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001851727] |
Chr5:141524142 [GRCh38]
Chr5:140903709 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 |
copy number loss |
See cases [RCV000052142] |
Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32 |
pathogenic |
| GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 |
copy number loss |
See cases [RCV000053524] |
Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2 |
pathogenic |
| NM_005219.5(DIAPH1):c.2597C>T (p.Ser866Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001051173] |
Chr5:141529682 [GRCh38]
Chr5:140909249 [GRCh37]
Chr5:140889433 [NCBI36]
Chr5:5q31.3 |
uncertain significance|not provided |
| NM_005219.4(DIAPH1):c.1853_1854insTCC (p.Pro620_Leu621insPro) |
insertion |
not specified [RCV000175060] |
Chr5:141573996..141573997 [GRCh38]
Chr5:140953563..140953564 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.3624_3625del (p.Ala1210fs) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000488304] |
Chr5:141524179..141524180 [GRCh38]
Chr5:140903746..140903747 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1 |
copy number loss |
See cases [RCV000136949] |
Chr5:140963199..142322798 [GRCh38]
Chr5:140453735..141702363 [GRCh37]
Chr5:140322968..141682547 [NCBI36]
Chr5:5q31.3 |
uncertain significance |
| GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 |
copy number gain |
See cases [RCV000138808] |
Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2 |
pathogenic |
| GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3 |
copy number gain |
See cases [RCV000139504] |
Chr5:141089988..149530678 [GRCh38]
Chr5:140469572..148910241 [GRCh37]
Chr5:140449756..148890434 [NCBI36]
Chr5:5q31.3-32 |
pathogenic |
| GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 |
copy number gain |
See cases [RCV000142806] |
Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2525A>G (p.Gln842Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005209492]|not specified [RCV000155769] |
Chr5:141534391 [GRCh38]
Chr5:140913958 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3360G>A (p.Glu1120=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001506631]|not provided [RCV004597753]|not specified [RCV000155937] |
Chr5:141526375 [GRCh38]
Chr5:140905942 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3054G>A (p.Thr1018=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000939046]|DIAPH1-related disorder [RCV004752755]|not specified [RCV000150401] |
Chr5:141528547 [GRCh38]
Chr5:140908114 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2672T>C (p.Ile891Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000269313]|Autosomal dominant nonsyndromic hearing loss 1 [RCV003764908]|not specified [RCV000150402] |
Chr5:141529607 [GRCh38]
Chr5:140909174 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000365633]|Autosomal dominant nonsyndromic hearing loss 1 [RCV002055960]|DIAPH1-related disorder [RCV003895035]|not specified [RCV000150404] |
Chr5:141575085 [GRCh38]
Chr5:140954652 [GRCh37]
Chr5:5q31.3 |
benign|likely benign|uncertain significance|not provided |
| NM_005219.5(DIAPH1):c.783G>A (p.Lys261=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003764909]|not specified [RCV000150406] |
Chr5:141580785 [GRCh38]
Chr5:140960352 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.621-7T>C |
single nucleotide variant |
not specified [RCV000150407] |
Chr5:141582382 [GRCh38]
Chr5:140961949 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.402+12del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001518563]|Nonsyndromic Hearing Loss, Mixed [RCV000279906]|not provided [RCV003430713]|not specified [RCV000150408] |
Chr5:141584112 [GRCh38]
Chr5:140963679 [GRCh37]
Chr5:5q31.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005219.5(DIAPH1):c.128G>A (p.Arg43Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003764910]|not specified [RCV000150410] |
Chr5:141588240 [GRCh38]
Chr5:140967807 [GRCh37]
Chr5:5q31.3 |
uncertain significance|not provided |
| NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001154656]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001393091]|not specified [RCV000156180] |
Chr5:141528502 [GRCh38]
Chr5:140908069 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.3662-14G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002056116]|not specified [RCV000156188] |
Chr5:141517022 [GRCh38]
Chr5:140896589 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.635G>A (p.Arg212Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003764970]|not specified [RCV000156386] |
Chr5:141582361 [GRCh38]
Chr5:140961928 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000802483]|not provided [RCV000726655]|not specified [RCV000150400] |
Chr5:141527616 [GRCh38]
Chr5:140907183 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000333747]|Autosomal dominant nonsyndromic hearing loss 1 [RCV000557145]|not provided [RCV001753531]|not specified [RCV000150403] |
Chr5:141534391 [GRCh38]
Chr5:140913958 [GRCh37]
Chr5:5q31.3 |
benign|likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652771]|Autosomal dominant nonsyndromic hearing loss 1 [RCV004584612]|DIAPH1-related disorder [RCV003398797]|not specified [RCV000150405] |
Chr5:141576788 [GRCh38]
Chr5:140956355 [GRCh37]
Chr5:5q31.3 |
likely pathogenic|uncertain significance |
| NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000316277]|Autosomal dominant nonsyndromic hearing loss 1 [RCV000541586]|not provided [RCV000991924]|not specified [RCV000150409] |
Chr5:141584136 [GRCh38]
Chr5:140963703 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000694570]|Inborn genetic diseases [RCV002516119]|not provided [RCV002464130]|not specified [RCV000155084] |
Chr5:141528551 [GRCh38]
Chr5:140908118 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.2924A>G (p.Asn975Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001850124]|not specified [RCV000155085] |
Chr5:141528796 [GRCh38]
Chr5:140908363 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.891G>A (p.Pro297=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000530079]|DIAPH1-related disorder [RCV003937461]|not provided [RCV001698660]|not specified [RCV000155358] |
Chr5:141579130 [GRCh38]
Chr5:140958697 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000273144]|Autosomal dominant nonsyndromic hearing loss 1 [RCV000526286]|not specified [RCV000155359] |
Chr5:141516905 [GRCh38]
Chr5:140896472 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003984821]|Epilepsy [RCV000162177]|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000201793] |
Chr5:141573518 [GRCh38]
Chr5:140953085 [GRCh37]
Chr5:5q31.3 |
pathogenic|likely pathogenic |
| NM_005219.5(DIAPH1):c.343G>A (p.Glu115Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000380141]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001855165]|Inborn genetic diseases [RCV002519210]|not provided [RCV000319218] |
Chr5:141584183 [GRCh38]
Chr5:140963750 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.685-5A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652779]|not provided [RCV001722166]|not specified [RCV000219566] |
Chr5:141580888 [GRCh38]
Chr5:140960455 [GRCh37]
Chr5:5q31.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000600201]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001522464]|not provided [RCV001538893]|not specified [RCV000223617] |
Chr5:141573997..141573999 [GRCh38]
Chr5:140953564..140953566 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.2373C>T (p.Asp791=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003765365]|not specified [RCV000215354] |
Chr5:141572026 [GRCh38]
Chr5:140951593 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2067A>C (p.Pro689=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003765364]|not specified [RCV000217370] |
Chr5:141573783 [GRCh38]
Chr5:140953350 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000398170]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001086322]|DIAPH1-related disorder [RCV003907804]|not provided [RCV000725896]|not specified [RCV000214076] |
Chr5:141574081 [GRCh38]
Chr5:140953648 [GRCh37]
Chr5:5q31.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001409920]|not provided [RCV000534862]|not specified [RCV000218309] |
Chr5:141528831 [GRCh38]
Chr5:140908398 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000488049]|Autosomal dominant nonsyndromic hearing loss 1 [RCV002519628]|Rare genetic deafness [RCV000216048]|not provided [RCV000733671] |
Chr5:141524167 [GRCh38]
Chr5:140903734 [GRCh37]
Chr5:5q31.3 |
pathogenic|uncertain significance |
| NM_005219.5(DIAPH1):c.3704C>G (p.Ser1235Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001853443]|not specified [RCV000221090] |
Chr5:141516966 [GRCh38]
Chr5:140896533 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3526C>T (p.Arg1176Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003765388]|not specified [RCV000222991] |
Chr5:141526086 [GRCh38]
Chr5:140905653 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000543790]|not provided [RCV000514338]|not specified [RCV000216693] |
Chr5:141573996..141573997 [GRCh38]
Chr5:140953563..140953564 [GRCh37]
Chr5:5q31.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000382860]|Autosomal dominant nonsyndromic hearing loss 1 [RCV000560299]|not provided [RCV001722143]|not specified [RCV000219055] |
Chr5:141527619 [GRCh38]
Chr5:140907186 [GRCh37]
Chr5:5q31.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000806173]|Inborn genetic diseases [RCV002517539]|not provided [RCV001723797]|not specified [RCV000219307] |
Chr5:141573743 [GRCh38]
Chr5:140953310 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.2358+15C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001400142]|not specified [RCV000221668] |
Chr5:141573477 [GRCh38]
Chr5:140953044 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000307634]|Autosomal dominant nonsyndromic hearing loss 1 [RCV000540475]|not provided [RCV001683161]|not specified [RCV000280471] |
Chr5:141576284 [GRCh38]
Chr5:140955851 [GRCh37]
Chr5:5q31.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_005219.5(DIAPH1):c.627C>A (p.Tyr209Ter) |
single nucleotide variant |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000625785] |
Chr5:141582369 [GRCh38]
Chr5:140961936 [GRCh37]
Chr5:5q31.3 |
pathogenic|likely pathogenic |
| NM_005219.5(DIAPH1):c.*1041G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000284447] |
Chr5:141515810 [GRCh38]
Chr5:140895377 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.301-5C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000285720]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001404213]|DIAPH1-related disorder [RCV003970020]|Inborn genetic diseases [RCV002520328] |
Chr5:141584230 [GRCh38]
Chr5:140963797 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000281485]|Autosomal dominant nonsyndromic hearing loss 1 [RCV000652776]|DIAPH1-related disorder [RCV003970019]|Inborn genetic diseases [RCV002520326]|not provided [RCV001613157] |
Chr5:141573818 [GRCh38]
Chr5:140953385 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000271037]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001081233]|not provided [RCV000437504]|not specified [RCV000612807] |
Chr5:141576268 [GRCh38]
Chr5:140955835 [GRCh37]
Chr5:5q31.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 |
copy number gain |
not provided [RCV000487658] |
Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1461+20G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001517682]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001660272]|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV001660273]|not provided [RCV001668510]|not specified [RCV000247529] |
Chr5:141576210 [GRCh38]
Chr5:140955777 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.1107G>A (p.Gly369=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000277146]|Autosomal dominant nonsyndromic hearing loss 1 [RCV002058511] |
Chr5:141578281 [GRCh38]
Chr5:140957848 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.*124_*126del |
deletion |
Nonsyndromic Hearing Loss, Mixed [RCV000267697] |
Chr5:141516725..141516727 [GRCh38]
Chr5:140896292..140896294 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.620+8C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000374126]|Autosomal dominant nonsyndromic hearing loss 1 [RCV002523510] |
Chr5:141583198 [GRCh38]
Chr5:140962765 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.*1607C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000314582] |
Chr5:141515244 [GRCh38]
Chr5:140894811 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.-28G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000314756] |
Chr5:141618942 [GRCh38]
Chr5:140998509 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.*217C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000353039]|not provided [RCV004707127] |
Chr5:141516634 [GRCh38]
Chr5:140896201 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.2162C>A (p.Pro721His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000375883]|Autosomal dominant nonsyndromic hearing loss 1 [RCV000652769]|Inborn genetic diseases [RCV003372691] |
Chr5:141573688 [GRCh38]
Chr5:140953255 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1964C>A (p.Pro655His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000398178]|Autosomal dominant nonsyndromic hearing loss 1 [RCV000652768] |
Chr5:141573886 [GRCh38]
Chr5:140953453 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*1557C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000400731] |
Chr5:141515294 [GRCh38]
Chr5:140894861 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1744G>C (p.Val582Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000301637]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001861250] |
Chr5:141574106 [GRCh38]
Chr5:140953673 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2011G>A (p.Gly671Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000336345]|Autosomal dominant nonsyndromic hearing loss 1 [RCV002061256] |
Chr5:141573839 [GRCh38]
Chr5:140953406 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.*1304A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000378904] |
Chr5:141515547 [GRCh38]
Chr5:140895114 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.*367C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000337792]|not provided [RCV003430898] |
Chr5:141516484 [GRCh38]
Chr5:140896051 [GRCh37]
Chr5:5q31.3 |
benign|uncertain significance |
| NM_005219.5(DIAPH1):c.*1703AG[6] |
microsatellite |
Nonsyndromic Hearing Loss, Mixed [RCV000402540] |
Chr5:141515133..141515136 [GRCh38]
Chr5:140894700..140894703 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000403149]|Autosomal dominant nonsyndromic hearing loss 1 [RCV000966695]|DIAPH1-related disorder [RCV003957817]|not provided [RCV001683397]|not specified [RCV000825747] |
Chr5:141587142 [GRCh38]
Chr5:140966709 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.*39G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000303626] |
Chr5:141516812 [GRCh38]
Chr5:140896379 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000319451]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001498389]|DIAPH1-related disorder [RCV003897794]|not provided [RCV003430899] |
Chr5:141582369 [GRCh38]
Chr5:140961936 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.*16C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000358374]|not provided [RCV004705378] |
Chr5:141516835 [GRCh38]
Chr5:140896402 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.*734C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000381084] |
Chr5:141516117 [GRCh38]
Chr5:140895684 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.*933T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000290126] |
Chr5:141515918 [GRCh38]
Chr5:140895485 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.300+12A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000339439]|Autosomal dominant nonsyndromic hearing loss 1 [RCV002061258] |
Chr5:141587030 [GRCh38]
Chr5:140966597 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.*1347C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000360293] |
Chr5:141515504 [GRCh38]
Chr5:140895071 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.*1364T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000321874] |
Chr5:141515487 [GRCh38]
Chr5:140895054 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.*1597G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000362325] |
Chr5:141515254 [GRCh38]
Chr5:140894821 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000555012]|Nonsyndromic Hearing Loss, Mixed [RCV000342257]|not provided [RCV001653685]|not specified [RCV000607182] |
Chr5:141573997..141574002 [GRCh38]
Chr5:140953564..140953569 [GRCh37]
Chr5:5q31.3 |
benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1287G>C (p.Gln429His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002520327]|Nonsyndromic Hearing Loss, Mixed [RCV000362370] |
Chr5:141576865 [GRCh38]
Chr5:140956432 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.882T>A (p.Arg294=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000386769]|Autosomal dominant nonsyndromic hearing loss 1 [RCV002061257] |
Chr5:141579139 [GRCh38]
Chr5:140958706 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.*1322C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000324347] |
Chr5:141515529 [GRCh38]
Chr5:140895096 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.*755T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000345075] |
Chr5:141516096 [GRCh38]
Chr5:140895663 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.-22G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000345272]|DIAPH1-related disorder [RCV003950245]|not specified [RCV000600203] |
Chr5:141618936 [GRCh38]
Chr5:140998503 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.2333A>G (p.Gln778Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000388207]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001219655]|Inborn genetic diseases [RCV002520325]|not specified [RCV000602949] |
Chr5:141573517 [GRCh38]
Chr5:140953084 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2273C>T (p.Pro758Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000294388]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001861249]|not provided [RCV001778935] |
Chr5:141573577 [GRCh38]
Chr5:140953144 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*709C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000296058] |
Chr5:141516142 [GRCh38]
Chr5:140895709 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.-49A>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000369495]|not provided [RCV001558563] |
Chr5:141618963 [GRCh38]
Chr5:140998530 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.*618G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000393373] |
Chr5:141516233 [GRCh38]
Chr5:140895800 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.*254G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000393384] |
Chr5:141516597 [GRCh38]
Chr5:140896164 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000349361]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001051616]|not provided [RCV005222902]|not specified [RCV000607967] |
Chr5:141573650 [GRCh38]
Chr5:140953217 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*1637G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000349699] |
Chr5:141515214 [GRCh38]
Chr5:140894781 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.*236T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000298265] |
Chr5:141516615 [GRCh38]
Chr5:140896182 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.-27G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000396294] |
Chr5:141618941 [GRCh38]
Chr5:140998508 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*1622TCC[1] |
microsatellite |
Nonsyndromic Hearing Loss, Mixed [RCV000396367] |
Chr5:141515224..141515226 [GRCh38]
Chr5:140894791..140894793 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.*1337C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000259835] |
Chr5:141515514 [GRCh38]
Chr5:140895081 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1769G>A (p.Gly590Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001859700]|not provided [RCV000307219] |
Chr5:141574081 [GRCh38]
Chr5:140953648 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.4(DIAPH1):c.1853_1854insTCCTCC (p.Pro620_Leu621insProPro) |
insertion |
not provided [RCV000421714]|not specified [RCV000279070] |
Chr5:141573996..141573997 [GRCh38]
Chr5:140953563..140953564 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.789T>C (p.Leu263=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000273675]|Autosomal dominant nonsyndromic hearing loss 1 [RCV003766026] |
Chr5:141580779 [GRCh38]
Chr5:140960346 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.*1765_*1766dup |
duplication |
Nonsyndromic Hearing Loss, Mixed [RCV000336785]|not provided [RCV003430897] |
Chr5:141515084..141515085 [GRCh38]
Chr5:140894651..140894652 [GRCh37]
Chr5:5q31.3 |
benign|uncertain significance |
| NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001317659]|Inborn genetic diseases [RCV004021227]|not provided [RCV000353082] |
Chr5:141528818 [GRCh38]
Chr5:140908385 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.*1395C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000264331] |
Chr5:141515456 [GRCh38]
Chr5:140895023 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*932dup |
duplication |
Nonsyndromic Hearing Loss, Mixed [RCV000384603]|not provided [RCV004695835] |
Chr5:141515918..141515919 [GRCh38]
Chr5:140895485..140895486 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1708A>G (p.Ile570Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002518829]|not provided [RCV000358511] |
Chr5:141574142 [GRCh38]
Chr5:140953709 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1287G>A (p.Gln429=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002518150]|not provided [RCV000395602] |
Chr5:141576865 [GRCh38]
Chr5:140956432 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001338436]|Inborn genetic diseases [RCV002521950]|not provided [RCV000361855] |
Chr5:141574066 [GRCh38]
Chr5:140953633 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1735C>T (p.Arg579Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003336517]|not provided [RCV002283119] |
Chr5:141574115 [GRCh38]
Chr5:140953682 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2483-87G>A |
single nucleotide variant |
not provided [RCV001547314] |
Chr5:141534520 [GRCh38]
Chr5:140914087 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.*1654C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000292152] |
Chr5:141515197 [GRCh38]
Chr5:140894764 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.934-3T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000332129]|Autosomal dominant nonsyndromic hearing loss 1 [RCV005222903] |
Chr5:141578628 [GRCh38]
Chr5:140958195 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1943A>G (p.Asp648Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000306053]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001322038] |
Chr5:141573907 [GRCh38]
Chr5:140953474 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*1444T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000365974] |
Chr5:141515407 [GRCh38]
Chr5:140894974 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*701T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000350737] |
Chr5:141516150 [GRCh38]
Chr5:140895717 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003767321]|Hearing impairment [RCV001375058]|not provided [RCV000584874] |
Chr5:141527577..141527578 [GRCh38]
Chr5:140907144..140907145 [GRCh37]
Chr5:5q31.3 |
pathogenic|likely pathogenic |
| NM_005219.5(DIAPH1):c.*1006T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000320699] |
Chr5:141515845 [GRCh38]
Chr5:140895412 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*1544A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000308880] |
Chr5:141515307 [GRCh38]
Chr5:140894874 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*533G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000310961] |
Chr5:141516318 [GRCh38]
Chr5:140895885 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.-85A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000311003] |
Chr5:141618999 [GRCh38]
Chr5:140998566 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.-82G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000396302] |
Chr5:141618996 [GRCh38]
Chr5:140998563 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.682A>G (p.Lys228Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV000624740] |
Chr5:141582314 [GRCh38]
Chr5:140961881 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1666G>C (p.Glu556Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001151712] |
Chr5:141574184 [GRCh38]
Chr5:140953751 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2905_2906dup (p.Ser970fs) |
duplication |
not provided [RCV000598609] |
Chr5:141528813..141528814 [GRCh38]
Chr5:140908380..140908381 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.2009C>T (p.Pro670Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000531978]|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV004722916] |
Chr5:141573841 [GRCh38]
Chr5:140953408 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1753G>C (p.Ala585Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000806367] |
Chr5:141574097 [GRCh38]
Chr5:140953664 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2474-25C>T |
single nucleotide variant |
not provided [RCV001546071] |
Chr5:141571461 [GRCh38]
Chr5:140951028 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_Pro620del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000820393]|not provided [RCV004760759]|not specified [RCV000728424] |
Chr5:141573997..141574005 [GRCh38]
Chr5:140953564..140953572 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.2082G>T (p.Leu694Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000735749] |
Chr5:141573768 [GRCh38]
Chr5:140953335 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3432G>A (p.Met1144Ile) |
single nucleotide variant |
not provided [RCV000731534] |
Chr5:141526303 [GRCh38]
Chr5:140905870 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.352A>T (p.Ile118Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002032867]|Inborn genetic diseases [RCV004980644]|not provided [RCV001760525] |
Chr5:141584174 [GRCh38]
Chr5:140963741 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 |
copy number gain |
See cases [RCV000449349] |
Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000697895] |
Chr5:141527689 [GRCh38]
Chr5:140907256 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.2794C>T (p.Arg932Ter) |
single nucleotide variant |
not provided [RCV000432418] |
Chr5:141528926 [GRCh38]
Chr5:140908493 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.1971_1972delinsT (p.Leu657fs) |
indel |
not provided [RCV000481192] |
Chr5:141573878..141573879 [GRCh38]
Chr5:140953445..140953446 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.644A>G (p.His215Arg) |
single nucleotide variant |
not provided [RCV000757154] |
Chr5:141582352 [GRCh38]
Chr5:140961919 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3614C>T (p.Ala1205Val) |
single nucleotide variant |
not provided [RCV000485261] |
Chr5:141524190 [GRCh38]
Chr5:140903757 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3048G>A (p.Lys1016=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002056844]|DIAPH1-related disorder [RCV003932825]|not specified [RCV000503269] |
Chr5:141528553 [GRCh38]
Chr5:140908120 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NC_000005.9:g.(?_86400000)_(154000000_?)del |
deletion |
Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] |
Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2 |
pathogenic |
| GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.655C>T (p.Arg219Cys) |
single nucleotide variant |
not provided [RCV003318121] |
Chr5:141582341 [GRCh38]
Chr5:140961908 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.814C>G (p.Pro272Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001854140]|not specified [RCV000609758] |
Chr5:141580754 [GRCh38]
Chr5:140960321 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3149-3del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002498908]|not provided [RCV001722631] |
Chr5:141527700 [GRCh38]
Chr5:140907267 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000808089]|Inborn genetic diseases [RCV003243213]|not provided [RCV002260651]|not specified [RCV000613351] |
Chr5:141528550 [GRCh38]
Chr5:140908117 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1164-10C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002065197]|not specified [RCV000611043] |
Chr5:141577601 [GRCh38]
Chr5:140957168 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2538A>G (p.Val846=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002062152]|not specified [RCV000611055] |
Chr5:141534378 [GRCh38]
Chr5:140913945 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1047C>T (p.Asp349=) |
single nucleotide variant |
not specified [RCV000613969] |
Chr5:141578341 [GRCh38]
Chr5:140957908 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3406A>T (p.Met1136Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652761] |
Chr5:141526329 [GRCh38]
Chr5:140905896 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652762] |
Chr5:141516859 [GRCh38]
Chr5:140896426 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652764]|DIAPH1-related disorder [RCV003918078]|Inborn genetic diseases [RCV004972828]|not provided [RCV002285390] |
Chr5:141574102 [GRCh38]
Chr5:140953669 [GRCh37]
Chr5:5q31.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652767]|Inborn genetic diseases [RCV004972829]|not provided [RCV003229853] |
Chr5:141516861 [GRCh38]
Chr5:140896428 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652770]|DIAPH1-related disorder [RCV003918079]|Inborn genetic diseases [RCV004025885]|not provided [RCV004692047] |
Chr5:141573996..141573997 [GRCh38]
Chr5:140953563..140953564 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652772] |
Chr5:141516943 [GRCh38]
Chr5:140896510 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652773]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001333372] |
Chr5:141529677 [GRCh38]
Chr5:140909244 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652774]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001155495]|DIAPH1-related disorder [RCV004752983]|not provided [RCV001592824]|not specified [RCV000825744] |
Chr5:141573626 [GRCh38]
Chr5:140953193 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1002C>T (p.Ile334=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652775] |
Chr5:141578557 [GRCh38]
Chr5:140958124 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1653G>C (p.Leu551=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652777] |
Chr5:141574197 [GRCh38]
Chr5:140953764 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2427T>C (p.Asn809=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652778] |
Chr5:141571972 [GRCh38]
Chr5:140951539 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652780]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001157175]|DIAPH1-related disorder [RCV003918080]|not provided [RCV001644734] |
Chr5:141573886 [GRCh38]
Chr5:140953453 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.969A>G (p.Thr323=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652782]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001155595]|not provided [RCV001545484] |
Chr5:141578590 [GRCh38]
Chr5:140958157 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652783]|DIAPH1-related disorder [RCV004752984]|not provided [RCV001556136] |
Chr5:141573997..141574008 [GRCh38]
Chr5:140953564..140953575 [GRCh37]
Chr5:5q31.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005219.5(DIAPH1):c.2005T>C (p.Leu669=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652784] |
Chr5:141573845 [GRCh38]
Chr5:140953412 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.579C>T (p.Asp193=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652785]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001157272]|not provided [RCV003432708] |
Chr5:141583247 [GRCh38]
Chr5:140962814 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1926C>T (p.Pro642=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652786] |
Chr5:141573924 [GRCh38]
Chr5:140953491 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652765]|not specified [RCV001269256] |
Chr5:141528504 [GRCh38]
Chr5:140908071 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| GRCh37/hg19 5q31.3(chr5:140676272-140929172)x3 |
copy number gain |
See cases [RCV000512526] |
Chr5:140676272..140929172 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000652766]|Beta-D-mannosidosis [RCV001375335]|not provided [RCV000512994] |
Chr5:141526422 [GRCh38]
Chr5:140905989 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.3750G>A (p.Val1250=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003790861] |
Chr5:141516920 [GRCh38]
Chr5:140896487 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000662222]|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000662223] |
Chr5:141573743 [GRCh38]
Chr5:140953310 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1 |
copy number loss |
not provided [RCV000682600] |
Chr5:139147238..141540491 [GRCh37]
Chr5:5q31.2-31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000697821]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001151822]|Inborn genetic diseases [RCV002533501]|not provided [RCV001536492] |
Chr5:141587125 [GRCh38]
Chr5:140966692 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2424C>A (p.Asn808Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000699939] |
Chr5:141571975 [GRCh38]
Chr5:140951542 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000707166]|not specified [RCV000825746] |
Chr5:141529178 [GRCh38]
Chr5:140908745 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1280+3A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000707625] |
Chr5:141577472 [GRCh38]
Chr5:140957039 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.724C>G (p.Leu242Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000688907] |
Chr5:141580844 [GRCh38]
Chr5:140960411 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000689036]|Inborn genetic diseases [RCV002544839]|not provided [RCV001653979] |
Chr5:141573996..141573997 [GRCh38]
Chr5:140953563..140953564 [GRCh37]
Chr5:5q31.3 |
benign|likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1848_1862del (p.Pro618_Pro622del) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000686307] |
Chr5:141573988..141574002 [GRCh38]
Chr5:140953555..140953569 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000701741]|not specified [RCV004017721] |
Chr5:141527671 [GRCh38]
Chr5:140907238 [GRCh37]
Chr5:5q31.3 |
benign|uncertain significance |
| NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000690145]|not provided [RCV001771946] |
Chr5:141587083 [GRCh38]
Chr5:140966650 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000693323] |
Chr5:141573496 [GRCh38]
Chr5:140953063 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000695410]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001154657]|DIAPH1-related disorder [RCV003945718] |
Chr5:141528920 [GRCh38]
Chr5:140908487 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000696551]|Inborn genetic diseases [RCV004026381]|not provided [RCV003144534] |
Chr5:141529611 [GRCh38]
Chr5:140909178 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1639G>C (p.Glu547Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000705891] |
Chr5:141574969 [GRCh38]
Chr5:140954536 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2483-30A>G |
single nucleotide variant |
not provided [RCV001546451] |
Chr5:141534463 [GRCh38]
Chr5:140914030 [GRCh37]
Chr5:5q31.3 |
likely benign |
| GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.3149-1G>T |
single nucleotide variant |
not provided [RCV001571585] |
Chr5:141527698 [GRCh38]
Chr5:140907265 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3690A>T (p.Thr1230=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001467196] |
Chr5:141516980 [GRCh38]
Chr5:140896547 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3574+291A>G |
single nucleotide variant |
not provided [RCV001583619] |
Chr5:141525747 [GRCh38]
Chr5:140905314 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.620+176C>T |
single nucleotide variant |
not provided [RCV001576662] |
Chr5:141583030 [GRCh38]
Chr5:140962597 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.*5G>T |
single nucleotide variant |
not provided [RCV001544864] |
Chr5:141516846 [GRCh38]
Chr5:140896413 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.620+169A>G |
single nucleotide variant |
not provided [RCV001551222] |
Chr5:141583037 [GRCh38]
Chr5:140962604 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3148+178T>C |
single nucleotide variant |
not provided [RCV001570446] |
Chr5:141528275 [GRCh38]
Chr5:140907842 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.620+48G>C |
single nucleotide variant |
not provided [RCV001552010] |
Chr5:141583158 [GRCh38]
Chr5:140962725 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.620+44A>G |
single nucleotide variant |
not provided [RCV001566931] |
Chr5:141583162 [GRCh38]
Chr5:140962729 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-25_3149-23dup |
duplication |
not provided [RCV001552126] |
Chr5:141527699..141527700 [GRCh38]
Chr5:140907266..140907267 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3463C>T (p.Arg1155Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000950331]|not provided [RCV001551211] |
Chr5:141526149 [GRCh38]
Chr5:140905716 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3126C>T (p.Ala1042=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001431973] |
Chr5:141528475 [GRCh38]
Chr5:140908042 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1397-14CTT[2] |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000951183]|not provided [RCV001785747] |
Chr5:141576300..141576302 [GRCh38]
Chr5:140955867..140955869 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.810G>A (p.Pro270=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000964686] |
Chr5:141580758 [GRCh38]
Chr5:140960325 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2473+9C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001455539] |
Chr5:141571917 [GRCh38]
Chr5:140951484 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.99C>T (p.Gly33=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002539328]|not provided [RCV004777910] |
Chr5:141618816 [GRCh38]
Chr5:140998383 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.2079T>C (p.Pro693=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000924437] |
Chr5:141573771 [GRCh38]
Chr5:140953338 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001054865]|Inborn genetic diseases [RCV003160438]|not provided [RCV005232087]|not specified [RCV005236569] |
Chr5:141573820 [GRCh38]
Chr5:140953387 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1601A>G (p.Lys534Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001059284]|not provided [RCV001797152] |
Chr5:141575007 [GRCh38]
Chr5:140954574 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001046910]|DIAPH1-related disorder [RCV003906157]|DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome [RCV003325988]|not provided [RCV001569639] |
Chr5:141573887 [GRCh38]
Chr5:140953454 [GRCh37]
Chr5:5q31.3 |
uncertain significance|not provided |
| NM_005219.5(DIAPH1):c.2108C>G (p.Pro703Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001037667]|Inborn genetic diseases [RCV002551392] |
Chr5:141573742 [GRCh38]
Chr5:140953309 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.88G>T (p.Gly30Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001057389] |
Chr5:141618827 [GRCh38]
Chr5:140998394 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3292C>A (p.Gln1098Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001060023] |
Chr5:141526443 [GRCh38]
Chr5:140906010 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1073T>C (p.Met358Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001050441] |
Chr5:141578315 [GRCh38]
Chr5:140957882 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2307del (p.Lys771fs) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000779464] |
Chr5:141573543 [GRCh38]
Chr5:140953110 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3237C>T (p.Ala1079=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005213408]|not specified [RCV000825745] |
Chr5:141527609 [GRCh38]
Chr5:140907176 [GRCh37]
Chr5:5q31.3 |
likely benign |
| GRCh37/hg19 5q31.3(chr5:140953993-140992629) |
copy number loss |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000767834] |
Chr5:140953993..140992629 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.3149-25_3149-12dup |
duplication |
DIAPH1-related disorder [RCV003960589]|not provided [RCV000946883] |
Chr5:141527699..141527700 [GRCh38]
Chr5:140907266..140907267 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-25_3149-14dup |
duplication |
not provided [RCV000950136] |
Chr5:141527699..141527700 [GRCh38]
Chr5:140907266..140907267 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.1713T>C (p.Thr571=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000928240] |
Chr5:141574137 [GRCh38]
Chr5:140953704 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3439-5C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001492634] |
Chr5:141526178 [GRCh38]
Chr5:140905745 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.453G>A (p.Glu151=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000920506]|not provided [RCV003432915] |
Chr5:141583565 [GRCh38]
Chr5:140963132 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.77dup (p.Pro27fs) |
duplication |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000984508] |
Chr5:141618837..141618838 [GRCh38]
Chr5:140998404..140998405 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.3019-8T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000941254] |
Chr5:141528590 [GRCh38]
Chr5:140908157 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2365G>A (p.Ala789Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000802548] |
Chr5:141572034 [GRCh38]
Chr5:140951601 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3027C>T (p.Asp1009=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002536134]|not provided [RCV000841414] |
Chr5:141528574 [GRCh38]
Chr5:140908141 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2365G>T (p.Ala789Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000809726] |
Chr5:141572034 [GRCh38]
Chr5:140951601 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.556G>C (p.Glu186Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000817713] |
Chr5:141583270 [GRCh38]
Chr5:140962837 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1854A>T (p.Pro618=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002067419]|not provided [RCV001595044]|not specified [RCV000825748] |
Chr5:141573996 [GRCh38]
Chr5:140953563 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2841C>T (p.Ser947=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000807772] |
Chr5:141528879 [GRCh38]
Chr5:140908446 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1164-35AT[3] |
microsatellite |
not provided [RCV000842750]|not specified [RCV003489937] |
Chr5:141577622..141577623 [GRCh38]
Chr5:140957189..140957190 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.3318G>A (p.Met1106Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000800292] |
Chr5:141526417 [GRCh38]
Chr5:140905984 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3767C>T (p.Thr1256Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000812247] |
Chr5:141516903 [GRCh38]
Chr5:140896470 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1565C>T (p.Ala522Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000802255] |
Chr5:141575043 [GRCh38]
Chr5:140954610 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3590G>A (p.Gly1197Asp) |
single nucleotide variant |
not provided [RCV000991923] |
Chr5:141524214 [GRCh38]
Chr5:140903781 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1409A>G (p.Asp470Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000799138]|not provided [RCV004773156] |
Chr5:141576282 [GRCh38]
Chr5:140955849 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.234T>G (p.Asp78Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000806357] |
Chr5:141587108 [GRCh38]
Chr5:140966675 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1460A>G (p.Lys487Arg) |
single nucleotide variant |
not specified [RCV000825325] |
Chr5:141576231 [GRCh38]
Chr5:140955798 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.44G>A (p.Arg15Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000791750] |
Chr5:141618871 [GRCh38]
Chr5:140998438 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2137A>G (p.Met713Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000824306] |
Chr5:141573713 [GRCh38]
Chr5:140953280 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1852_1860dup (p.Pro618_Pro620dup) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000824349]|not provided [RCV001546501] |
Chr5:141573989..141573990 [GRCh38]
Chr5:140953556..140953557 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1859C>T (p.Pro620Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000824535]|Inborn genetic diseases [RCV002536027] |
Chr5:141573991 [GRCh38]
Chr5:140953558 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000809869]|Inborn genetic diseases [RCV003362965]|not provided [RCV003223678] |
Chr5:141529192 [GRCh38]
Chr5:140908759 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.941G>C (p.Cys314Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001067269] |
Chr5:141578618 [GRCh38]
Chr5:140958185 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3575-50_3661+36inv |
inversion |
Macrothrombocytopenia [RCV000852260] |
Chr5:141524107..141524279 [GRCh38]
Chr5:140903674..140903846 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.2944C>T (p.Leu982Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000812521] |
Chr5:141528776 [GRCh38]
Chr5:140908343 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3662-24A>G |
single nucleotide variant |
not provided [RCV000843352] |
Chr5:141517032 [GRCh38]
Chr5:140896599 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3661+69C>T |
single nucleotide variant |
not provided [RCV000843645] |
Chr5:141524074 [GRCh38]
Chr5:140903641 [GRCh37]
Chr5:5q31.3 |
likely benign |
| Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3195A>G (p.Gln1065=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001487199] |
Chr5:141527651 [GRCh38]
Chr5:140907218 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1571A>T (p.His524Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000803533] |
Chr5:141575037 [GRCh38]
Chr5:140954604 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2141C>T (p.Pro714Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000816864]|DIAPH1-related disorder [RCV003955526]|Inborn genetic diseases [RCV004973001] |
Chr5:141573709 [GRCh38]
Chr5:140953276 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3322C>T (p.His1108Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000811590] |
Chr5:141526413 [GRCh38]
Chr5:140905980 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001082786]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001151711]|DIAPH1-related disorder [RCV003917622]|not provided [RCV000724127]|not specified [RCV000221724] |
Chr5:141574114 [GRCh38]
Chr5:140953681 [GRCh37]
Chr5:5q31.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005219.5(DIAPH1):c.2769del (p.Phe923fs) |
deletion |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000201796] |
Chr5:141529181 [GRCh38]
Chr5:140908748 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter) |
single nucleotide variant |
Deafness [RCV004798807]|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV000201798]|not provided [RCV000255778] |
Chr5:141528456 [GRCh38]
Chr5:140908023 [GRCh37]
Chr5:5q31.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 |
copy number gain |
See cases [RCV000448245] |
Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.621-8A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001480447] |
Chr5:141582383 [GRCh38]
Chr5:140961950 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2886T>C (p.Ala962=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000556533]|not specified [RCV000615816] |
Chr5:141528834 [GRCh38]
Chr5:140908401 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3358G>A (p.Glu1120Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000534050]|Inborn genetic diseases [RCV002526721] |
Chr5:141526377 [GRCh38]
Chr5:140905944 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001079161]|not provided [RCV000421714]|not specified [RCV000279070] |
Chr5:141573996..141573997 [GRCh38]
Chr5:140953563..140953564 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000701446]|Inborn genetic diseases [RCV004026557] |
Chr5:141526126 [GRCh38]
Chr5:140905693 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1641+241C>G |
single nucleotide variant |
not provided [RCV001547580] |
Chr5:141574726 [GRCh38]
Chr5:140954293 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2229C>G (p.Pro743=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000937898] |
Chr5:141573621 [GRCh38]
Chr5:140953188 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001002757]|Autosomal dominant nonsyndromic hearing loss 1 [RCV003768617] |
Chr5:141573843 [GRCh38]
Chr5:140953410 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.65G>A (p.Ser22Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001053189]|Inborn genetic diseases [RCV004977935] |
Chr5:141618850 [GRCh38]
Chr5:140998417 [GRCh37]
Chr5:5q31.3 |
benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1155G>A (p.Met385Ile) |
single nucleotide variant |
not provided [RCV003239152] |
Chr5:141578233 [GRCh38]
Chr5:140957800 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1151G>T (p.Arg384Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000797971] |
Chr5:141578237 [GRCh38]
Chr5:140957804 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.42C>G (p.Thr14=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001151823] |
Chr5:141618873 [GRCh38]
Chr5:140998440 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3677G>A (p.Gly1226Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001068904]|Inborn genetic diseases [RCV004609611] |
Chr5:141516993 [GRCh38]
Chr5:140896560 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3 |
copy number gain |
not provided [RCV000848228] |
Chr5:140424333..148985999 [GRCh37]
Chr5:5q31.3-32 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3679T>C (p.Cys1227Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001225973] |
Chr5:141516991 [GRCh38]
Chr5:140896558 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001217050]|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV003492231] |
Chr5:141534375..141534376 [GRCh38]
Chr5:140913942..140913943 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.2071C>T (p.Pro691Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001044881] |
Chr5:141573779 [GRCh38]
Chr5:140953346 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1339G>A (p.Gly447Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001223974]|Microcephaly [RCV001252708]|not provided [RCV001772186] |
Chr5:141576813 [GRCh38]
Chr5:140956380 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3157G>T (p.Glu1053Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000987607] |
Chr5:141527689 [GRCh38]
Chr5:140907256 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.50A>G (p.Lys17Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001218405] |
Chr5:141618865 [GRCh38]
Chr5:140998432 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.117+285C>T |
single nucleotide variant |
not provided [RCV001564078] |
Chr5:141618513 [GRCh38]
Chr5:140998080 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.83C>G (p.Ser28Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001238111] |
Chr5:141618832 [GRCh38]
Chr5:140998399 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2818A>G (p.Ile940Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001220260] |
Chr5:141528902 [GRCh38]
Chr5:140908469 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3764A>G (p.Glu1255Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001241104] |
Chr5:141516906 [GRCh38]
Chr5:140896473 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3641G>A (p.Arg1214Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001196585]|Autosomal dominant nonsyndromic hearing loss 1 [RCV002560224] |
Chr5:141524163 [GRCh38]
Chr5:140903730 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2733G>T (p.Lys911Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001198779]|Autosomal dominant nonsyndromic hearing loss 1 [RCV003770219] |
Chr5:141529217 [GRCh38]
Chr5:140908784 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.29C>G (p.Pro10Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001231214] |
Chr5:141618886 [GRCh38]
Chr5:140998453 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1854_1859dup (p.Pro619_Pro620dup) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001237560]|not provided [RCV003232259] |
Chr5:141573990..141573991 [GRCh38]
Chr5:140953557..140953558 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.616G>A (p.Ala206Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001204663] |
Chr5:141583210 [GRCh38]
Chr5:140962777 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3077T>C (p.Leu1026Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003268850] |
Chr5:141528524 [GRCh38]
Chr5:140908091 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3152C>T (p.Ser1051Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000987608]|not provided [RCV001573184] |
Chr5:141527694 [GRCh38]
Chr5:140907261 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1498G>A (p.Val500Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001152953]|Autosomal dominant nonsyndromic hearing loss 1 [RCV005213472] |
Chr5:141575110 [GRCh38]
Chr5:140954677 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1821TCC[17] (p.Pro615_Pro620dup) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001238504] |
Chr5:141573996..141573997 [GRCh38]
Chr5:140953563..140953564 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.767T>C (p.Met256Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001235055]|Inborn genetic diseases [RCV002563819]|not provided [RCV001751460] |
Chr5:141580801 [GRCh38]
Chr5:140960368 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2070A>C (p.Pro690=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001157171] |
Chr5:141573780 [GRCh38]
Chr5:140953347 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2779A>G (p.Met927Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001154658]|Autosomal dominant nonsyndromic hearing loss 1 [RCV003769739]|not provided [RCV001772349] |
Chr5:141528941 [GRCh38]
Chr5:140908508 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.169A>G (p.Ile57Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001240236] |
Chr5:141587173 [GRCh38]
Chr5:140966740 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*811A>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001155370] |
Chr5:141516040 [GRCh38]
Chr5:140895607 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*724C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001155371] |
Chr5:141516127 [GRCh38]
Chr5:140895694 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3206_3207insTTC (p.Val1069_Glu1070insSer) |
insertion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001241891] |
Chr5:141527639..141527640 [GRCh38]
Chr5:140907206..140907207 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2261G>A (p.Gly754Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001216656]|Inborn genetic diseases [RCV002561904]|not provided [RCV001773483] |
Chr5:141573589 [GRCh38]
Chr5:140953156 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.152G>C (p.Arg51Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001202055] |
Chr5:141587190 [GRCh38]
Chr5:140966757 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.726A>T (p.Leu242=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003106264] |
Chr5:141580842 [GRCh38]
Chr5:140960409 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1281-147T>G |
single nucleotide variant |
not provided [RCV001577466] |
Chr5:141577018 [GRCh38]
Chr5:140956585 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3274-121T>C |
single nucleotide variant |
not provided [RCV001551752] |
Chr5:141526582 [GRCh38]
Chr5:140906149 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3439-27G>A |
single nucleotide variant |
not provided [RCV001567745] |
Chr5:141526200 [GRCh38]
Chr5:140905767 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1380G>C (p.Glu460Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003292136] |
Chr5:141576772 [GRCh38]
Chr5:140956339 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.117+181C>G |
single nucleotide variant |
not provided [RCV001559979] |
Chr5:141618617 [GRCh38]
Chr5:140998184 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.402+101A>G |
single nucleotide variant |
not provided [RCV001560065] |
Chr5:141584023 [GRCh38]
Chr5:140963590 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.-21C>T |
single nucleotide variant |
not provided [RCV001590763] |
Chr5:141618935 [GRCh38]
Chr5:140998502 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1642-156G>A |
single nucleotide variant |
not provided [RCV001698803] |
Chr5:141574364 [GRCh38]
Chr5:140953931 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.1641+77C>T |
single nucleotide variant |
not provided [RCV001585587] |
Chr5:141574890 [GRCh38]
Chr5:140954457 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2482+122G>C |
single nucleotide variant |
not provided [RCV001550192] |
Chr5:141571306 [GRCh38]
Chr5:140950873 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-25_3149-22dup |
duplication |
not provided [RCV001555427] |
Chr5:141527699..141527700 [GRCh38]
Chr5:140907266..140907267 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NC_000005.10:g.141619237G>T |
single nucleotide variant |
not provided [RCV001560854] |
Chr5:141619237 [GRCh38]
Chr5:140998804 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2581+240A>T |
single nucleotide variant |
not provided [RCV001645699] |
Chr5:141534095 [GRCh38]
Chr5:140913662 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.3273+65G>A |
single nucleotide variant |
not provided [RCV001562168] |
Chr5:141527508 [GRCh38]
Chr5:140907075 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3155C>T (p.Ala1052Val) |
single nucleotide variant |
not provided [RCV001562329] |
Chr5:141527691 [GRCh38]
Chr5:140907258 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.685-204C>G |
single nucleotide variant |
not provided [RCV001562360] |
Chr5:141581087 [GRCh38]
Chr5:140960654 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-24T>G |
single nucleotide variant |
not provided [RCV001586408] |
Chr5:141527721 [GRCh38]
Chr5:140907288 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1482C>A (p.Ala494=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002072096]|not provided [RCV001557306] |
Chr5:141575126 [GRCh38]
Chr5:140954693 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.117+8T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002072097]|not provided [RCV001557351] |
Chr5:141618790 [GRCh38]
Chr5:140998357 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.402+58dup |
duplication |
not provided [RCV001577678] |
Chr5:141584056..141584057 [GRCh38]
Chr5:140963623..140963624 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2358+63G>A |
single nucleotide variant |
not provided [RCV001718383] |
Chr5:141573429 [GRCh38]
Chr5:140952996 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.117+238C>T |
single nucleotide variant |
not provided [RCV001545813] |
Chr5:141618560 [GRCh38]
Chr5:140998127 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2676+21G>A |
single nucleotide variant |
not provided [RCV001587703] |
Chr5:141529582 [GRCh38]
Chr5:140909149 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2358+57del |
deletion |
not provided [RCV001657001] |
Chr5:141573435 [GRCh38]
Chr5:140953002 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.117+9C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000973850]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001732000] |
Chr5:141618789 [GRCh38]
Chr5:140998356 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.1338C>T (p.Asn446=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000978145]|not provided [RCV001541302] |
Chr5:141576814 [GRCh38]
Chr5:140956381 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.145-5C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001398907] |
Chr5:141587202 [GRCh38]
Chr5:140966769 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3777A>G (p.Thr1259=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001151606]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001429705] |
Chr5:141516893 [GRCh38]
Chr5:140896460 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.3149-25_3149-15dup |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002546040] |
Chr5:141527699..141527700 [GRCh38]
Chr5:140907266..140907267 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.685-8_685-6del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001515903] |
Chr5:141580889..141580891 [GRCh38]
Chr5:140960456..140960458 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.2437G>A (p.Ala813Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV000887542]|DIAPH1-related disorder [RCV003955932]|not provided [RCV001576993] |
Chr5:141571962 [GRCh38]
Chr5:140951529 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1044+9T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001418921] |
Chr5:141578506 [GRCh38]
Chr5:140958073 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3662-4G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001423822] |
Chr5:141517012 [GRCh38]
Chr5:140896579 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2779-6del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001393646] |
Chr5:141528947 [GRCh38]
Chr5:140908514 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3570T>C (p.Asn1190=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001412682] |
Chr5:141526042 [GRCh38]
Chr5:140905609 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3162C>A (p.Asn1054Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001199113] |
Chr5:141527684 [GRCh38]
Chr5:140907251 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1594A>G (p.Thr532Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001151713]|Autosomal dominant nonsyndromic hearing loss 1 [RCV003769726] |
Chr5:141575014 [GRCh38]
Chr5:140954581 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1531C>A (p.Gln511Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001151714] |
Chr5:141575077 [GRCh38]
Chr5:140954644 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1595C>T (p.Thr532Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001244153] |
Chr5:141575013 [GRCh38]
Chr5:140954580 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.933+12C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001155596]|Autosomal dominant nonsyndromic hearing loss 1 [RCV005213474] |
Chr5:141579076 [GRCh38]
Chr5:140958643 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.933+5G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001155597] |
Chr5:141579083 [GRCh38]
Chr5:140958650 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*521G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001157058] |
Chr5:141516330 [GRCh38]
Chr5:140895897 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*332T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001157059] |
Chr5:141516519 [GRCh38]
Chr5:140896086 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*325G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001157060] |
Chr5:141516526 [GRCh38]
Chr5:140896093 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.621-4A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001157271]|Autosomal dominant nonsyndromic hearing loss 1 [RCV002070936] |
Chr5:141582379 [GRCh38]
Chr5:140961946 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.677A>G (p.Asn226Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001227289] |
Chr5:141582319 [GRCh38]
Chr5:140961886 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1359G>A (p.Lys453=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001152954]|Autosomal dominant nonsyndromic hearing loss 1 [RCV002070861] |
Chr5:141576793 [GRCh38]
Chr5:140956360 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.3783T>C (p.Leu1261=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001401525] |
Chr5:141516887 [GRCh38]
Chr5:140896454 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.824+164T>C |
single nucleotide variant |
not provided [RCV001557321] |
Chr5:141580580 [GRCh38]
Chr5:140960147 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1164-186T>C |
single nucleotide variant |
not provided [RCV001562743] |
Chr5:141577777 [GRCh38]
Chr5:140957344 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2482+70G>C |
single nucleotide variant |
not provided [RCV001562889] |
Chr5:141571358 [GRCh38]
Chr5:140950925 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2358+143C>T |
single nucleotide variant |
not provided [RCV001548628] |
Chr5:141573349 [GRCh38]
Chr5:140952916 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2473+63T>A |
single nucleotide variant |
not provided [RCV001567931] |
Chr5:141571863 [GRCh38]
Chr5:140951430 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.-3G>C |
single nucleotide variant |
not provided [RCV001552244] |
Chr5:141618917 [GRCh38]
Chr5:140998484 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1461+213G>A |
single nucleotide variant |
not provided [RCV001570802] |
Chr5:141576017 [GRCh38]
Chr5:140955584 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1397-174G>A |
single nucleotide variant |
not provided [RCV001593887] |
Chr5:141576468 [GRCh38]
Chr5:140956035 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-25_3149-24dup |
duplication |
not provided [RCV001693418]|not specified [RCV001726612] |
Chr5:141527699..141527700 [GRCh38]
Chr5:140907266..140907267 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.1641+51T>G |
single nucleotide variant |
not provided [RCV001554916] |
Chr5:141574916 [GRCh38]
Chr5:140954483 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.621-12T>G |
single nucleotide variant |
not provided [RCV002469828] |
Chr5:141582387 [GRCh38]
Chr5:140961954 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2778+27G>T |
single nucleotide variant |
not provided [RCV001576098] |
Chr5:141529145 [GRCh38]
Chr5:140908712 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.118-223C>T |
single nucleotide variant |
not provided [RCV001576506] |
Chr5:141588473 [GRCh38]
Chr5:140968040 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2483-57G>A |
single nucleotide variant |
not provided [RCV001569011] |
Chr5:141534490 [GRCh38]
Chr5:140914057 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.825-221A>G |
single nucleotide variant |
not provided [RCV001550528] |
Chr5:141579417 [GRCh38]
Chr5:140958984 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.824+28C>G |
single nucleotide variant |
not provided [RCV001556007] |
Chr5:141580716 [GRCh38]
Chr5:140960283 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3661+163G>T |
single nucleotide variant |
not provided [RCV001556127] |
Chr5:141523980 [GRCh38]
Chr5:140903547 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3469G>A (p.Glu1157Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV004821417] |
Chr5:141526143 [GRCh38]
Chr5:140905710 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1462-241T>C |
single nucleotide variant |
not provided [RCV001722740] |
Chr5:141575387 [GRCh38]
Chr5:140954954 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.2581+106A>G |
single nucleotide variant |
not provided [RCV001592366] |
Chr5:141534229 [GRCh38]
Chr5:140913796 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.118-224del |
deletion |
not provided [RCV001619507] |
Chr5:141588474 [GRCh38]
Chr5:140968041 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.118-240dup |
duplication |
not provided [RCV001621702] |
Chr5:141588473..141588474 [GRCh38]
Chr5:140968040..140968041 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.144+40T>C |
single nucleotide variant |
not provided [RCV001595996] |
Chr5:141588184 [GRCh38]
Chr5:140967751 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.3149-96G>A |
single nucleotide variant |
not provided [RCV001593907] |
Chr5:141527793 [GRCh38]
Chr5:140907360 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.344A>G (p.Glu115Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001882721]|not provided [RCV001593334] |
Chr5:141584182 [GRCh38]
Chr5:140963749 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1642-251T>C |
single nucleotide variant |
not provided [RCV001689222] |
Chr5:141574459 [GRCh38]
Chr5:140954026 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.301-230dup |
duplication |
not provided [RCV001621216] |
Chr5:141584448..141584449 [GRCh38]
Chr5:140964015..140964016 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.2474-28T>C |
single nucleotide variant |
not provided [RCV001592598] |
Chr5:141571464 [GRCh38]
Chr5:140951031 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1991C>G (p.Pro664Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001157173] |
Chr5:141573859 [GRCh38]
Chr5:140953426 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.665A>G (p.Lys222Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001157270] |
Chr5:141582331 [GRCh38]
Chr5:140961898 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2036C>T (p.Pro679Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001157172]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001237738]|DIAPH1-related disorder [RCV004753219]|Inborn genetic diseases [RCV004032826] |
Chr5:141573814 [GRCh38]
Chr5:140953381 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1044+15T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001152955] |
Chr5:141578500 [GRCh38]
Chr5:140958067 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.981A>G (p.Glu327=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001152956] |
Chr5:141578578 [GRCh38]
Chr5:140958145 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2627A>C (p.Asn876Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001155492] |
Chr5:141529652 [GRCh38]
Chr5:140909219 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2474-11T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001155493]|Autosomal dominant nonsyndromic hearing loss 1 [RCV003769742] |
Chr5:141571447 [GRCh38]
Chr5:140951014 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.2149C>T (p.Pro717Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001222636] |
Chr5:141573701 [GRCh38]
Chr5:140953268 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3736G>T (p.Val1246Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001154654] |
Chr5:141516934 [GRCh38]
Chr5:140896501 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*1309A>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001154535] |
Chr5:141515542 [GRCh38]
Chr5:140895109 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*870G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001155368] |
Chr5:141515981 [GRCh38]
Chr5:140895548 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2337C>T (p.Leu779=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001155494]|Autosomal dominant nonsyndromic hearing loss 1 [RCV003769743] |
Chr5:141573513 [GRCh38]
Chr5:140953080 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.3149-79T>C |
single nucleotide variant |
not provided [RCV001541430] |
Chr5:141527776 [GRCh38]
Chr5:140907343 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2358+58G>T |
single nucleotide variant |
not provided [RCV001651929] |
Chr5:141573434 [GRCh38]
Chr5:140953001 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.1164-308T>G |
single nucleotide variant |
not provided [RCV001665831] |
Chr5:141577899 [GRCh38]
Chr5:140957466 [GRCh37]
Chr5:5q31.3 |
benign |
| NC_000005.10:g.141619209dup |
duplication |
not provided [RCV001710988] |
Chr5:141619200..141619201 [GRCh38]
Chr5:140998767..140998768 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.3274-244_3274-243insAAAAA |
insertion |
not provided [RCV001651980] |
Chr5:141526704..141526705 [GRCh38]
Chr5:140906271..140906272 [GRCh37]
Chr5:5q31.3 |
benign |
| NC_000005.10:g.(?_141516831)_(141618934_?)del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001031702] |
Chr5:140896398..140998501 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.301-114_301-110del |
deletion |
not provided [RCV001644110] |
Chr5:141584335..141584339 [GRCh38]
Chr5:140963902..140963906 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.2410G>A (p.Asp804Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001215634] |
Chr5:141571989 [GRCh38]
Chr5:140951556 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001041831] |
Chr5:141575059 [GRCh38]
Chr5:140954626 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.3638G>A (p.Arg1213Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001060332] |
Chr5:141524166 [GRCh38]
Chr5:140903733 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.230A>G (p.Asp77Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001151821]|Autosomal dominant nonsyndromic hearing loss 1 [RCV001882470] |
Chr5:141587112 [GRCh38]
Chr5:140966679 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1821TCC[15] (p.Pro617_Pro620dup) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001042799] |
Chr5:141573996..141573997 [GRCh38]
Chr5:140953563..140953564 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1835C>T (p.Pro612Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001061302] |
Chr5:141574015 [GRCh38]
Chr5:140953582 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2401G>C (p.Val801Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001036660] |
Chr5:141571998 [GRCh38]
Chr5:140951565 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.825G>A (p.Met275Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001057925]|Inborn genetic diseases [RCV004977955] |
Chr5:141579196 [GRCh38]
Chr5:140958763 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.88G>A (p.Gly30Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001058013]|not provided [RCV004773273] |
Chr5:141618827 [GRCh38]
Chr5:140998394 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2901dup (p.Arg968fs) |
duplication |
not provided [RCV001092022] |
Chr5:141528818..141528819 [GRCh38]
Chr5:140908385..140908386 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.2156C>G (p.Pro719Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001204007] |
Chr5:141573694 [GRCh38]
Chr5:140953261 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2806C>T (p.Arg936Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001245910] |
Chr5:141528914 [GRCh38]
Chr5:140908481 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3486G>C (p.Met1162Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001220555] |
Chr5:141526126 [GRCh38]
Chr5:140905693 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.863A>G (p.Glu288Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001220765] |
Chr5:141579158 [GRCh38]
Chr5:140958725 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3023G>A (p.Arg1008Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001059819] |
Chr5:141528578 [GRCh38]
Chr5:140908145 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1821TCC[18] (p.Pro614_Pro620dup) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001223317]|Inborn genetic diseases [RCV004978140] |
Chr5:141573996..141573997 [GRCh38]
Chr5:140953563..140953564 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*867G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001155369] |
Chr5:141515984 [GRCh38]
Chr5:140895551 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1577A>G (p.Glu526Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001225104] |
Chr5:141575031 [GRCh38]
Chr5:140954598 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.825-3C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001155598] |
Chr5:141579199 [GRCh38]
Chr5:140958766 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001028027] |
Chr5:141528775 [GRCh38]
Chr5:140908342 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.3629_3630del (p.Ala1210fs) |
deletion |
Hearing impairment [RCV001003903] |
Chr5:141524174..141524175 [GRCh38]
Chr5:140903741..140903742 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.194A>G (p.Asn65Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001208737] |
Chr5:141587148 [GRCh38]
Chr5:140966715 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*1533C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001151523] |
Chr5:141515318 [GRCh38]
Chr5:140894885 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*644C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001157057] |
Chr5:141516207 [GRCh38]
Chr5:140895774 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.300G>C (p.Leu100=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001070526] |
Chr5:141587042 [GRCh38]
Chr5:140966609 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3467G>C (p.Arg1156Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001154655] |
Chr5:141526145 [GRCh38]
Chr5:140905712 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.628G>A (p.Asp210Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001216657] |
Chr5:141582368 [GRCh38]
Chr5:140961935 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.*224G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001253907] |
Chr5:141516627 [GRCh38]
Chr5:140896194 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.*88C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001253908]|Autosomal dominant nonsyndromic hearing loss 1 [RCV002480870]|not provided [RCV004692354] |
Chr5:141516763 [GRCh38]
Chr5:140896330 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3217_3219dup (p.Val1073dup) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001350046] |
Chr5:141527626..141527627 [GRCh38]
Chr5:140907193..140907194 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1641G>A (p.Glu547=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001294486] |
Chr5:141574967 [GRCh38]
Chr5:140954534 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.300+280del |
deletion |
not provided [RCV001527864] |
Chr5:141586762 [GRCh38]
Chr5:140966329 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.818A>G (p.Glu273Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001301277] |
Chr5:141580750 [GRCh38]
Chr5:140960317 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1757C>T (p.Pro586Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001327453] |
Chr5:141574093 [GRCh38]
Chr5:140953660 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1004G>T (p.Arg335Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001296178] |
Chr5:141578555 [GRCh38]
Chr5:140958122 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.80C>T (p.Pro27Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001306021] |
Chr5:141618835 [GRCh38]
Chr5:140998402 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2063C>T (p.Pro688Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001307976] |
Chr5:141573787 [GRCh38]
Chr5:140953354 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.154T>C (p.Phe52Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001332582] |
Chr5:141587188 [GRCh38]
Chr5:140966755 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3130G>C (p.Val1044Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001317615] |
Chr5:141528471 [GRCh38]
Chr5:140908038 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.307A>G (p.Met103Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001351414]|Inborn genetic diseases [RCV002548477] |
Chr5:141584219 [GRCh38]
Chr5:140963786 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3374A>G (p.Asp1125Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001302982]|Inborn genetic diseases [RCV004978276] |
Chr5:141526361 [GRCh38]
Chr5:140905928 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1732A>G (p.Ser578Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001349692] |
Chr5:141574118 [GRCh38]
Chr5:140953685 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2101C>A (p.Pro701Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001320620] |
Chr5:141573749 [GRCh38]
Chr5:140953316 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3116dup (p.Asp1039fs) |
duplication |
Neonatal seizure [RCV001328493] |
Chr5:141528484..141528485 [GRCh38]
Chr5:140908051..140908052 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.770T>C (p.Ile257Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001326255] |
Chr5:141580798 [GRCh38]
Chr5:140960365 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2067_2105del (p.Ser697_Gly709del) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001343948] |
Chr5:141573745..141573783 [GRCh38]
Chr5:140953312..140953350 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NC_000005.9:g.(?_136633338)_(140998481_?)dup |
duplication |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] |
Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1164-3C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001362312] |
Chr5:141577594 [GRCh38]
Chr5:140957161 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2328G>A (p.Glu776=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001392217]|DIAPH1-related disorder [RCV003908557] |
Chr5:141573522 [GRCh38]
Chr5:140953089 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-7_3149-6insG |
insertion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001413748] |
Chr5:141527703..141527704 [GRCh38]
Chr5:140907270..140907271 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1248C>G (p.His416Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001362481] |
Chr5:141577507 [GRCh38]
Chr5:140957074 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.108dup (p.Lys37Ter) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001383240] |
Chr5:141618806..141618807 [GRCh38]
Chr5:140998373..140998374 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.1648A>C (p.Lys550Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001371755]|Inborn genetic diseases [RCV003284284] |
Chr5:141574202 [GRCh38]
Chr5:140953769 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2358+229G>A |
single nucleotide variant |
not provided [RCV001581666] |
Chr5:141573263 [GRCh38]
Chr5:140952830 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.970C>A (p.Pro324Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001344682] |
Chr5:141578589 [GRCh38]
Chr5:140958156 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2795G>A (p.Arg932Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001312356] |
Chr5:141528925 [GRCh38]
Chr5:140908492 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1358A>G (p.Lys453Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001312509] |
Chr5:141576794 [GRCh38]
Chr5:140956361 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2577T>G (p.Asn859Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001307416] |
Chr5:141534339 [GRCh38]
Chr5:140913906 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.13G>A (p.Gly5Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001365006] |
Chr5:141618902 [GRCh38]
Chr5:140998469 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1821TCC[6] (p.Pro616_Pro620del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001321943]|not provided [RCV001575208] |
Chr5:141573997..141574011 [GRCh38]
Chr5:140953564..140953578 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2111C>T (p.Pro704Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001315921] |
Chr5:141573739 [GRCh38]
Chr5:140953306 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3425G>A (p.Arg1142Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001346032]|not provided [RCV003238862] |
Chr5:141526310 [GRCh38]
Chr5:140905877 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2878G>A (p.Val960Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001304168]|Inborn genetic diseases [RCV004609739] |
Chr5:141528842 [GRCh38]
Chr5:140908409 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3758A>G (p.Asn1253Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001338942] |
Chr5:141516912 [GRCh38]
Chr5:140896479 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3314G>A (p.Arg1105Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001316079]|Inborn genetic diseases [RCV004034382]|not provided [RCV001578089] |
Chr5:141526421 [GRCh38]
Chr5:140905988 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2846A>G (p.Gln949Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001315042]|Inborn genetic diseases [RCV002543661] |
Chr5:141528874 [GRCh38]
Chr5:140908441 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3644A>G (p.Lys1215Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001370452] |
Chr5:141524160 [GRCh38]
Chr5:140903727 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1543G>C (p.Asp515His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001340160]|not provided [RCV001773677] |
Chr5:141575065 [GRCh38]
Chr5:140954632 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3809G>T (p.Arg1270Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001319422] |
Chr5:141516861 [GRCh38]
Chr5:140896428 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.66C>G (p.Ser22Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001373054] |
Chr5:141618849 [GRCh38]
Chr5:140998416 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.413A>G (p.Gln138Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001363766] |
Chr5:141583605 [GRCh38]
Chr5:140963172 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2903G>A (p.Arg968His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001315214]|DIAPH1-related disorder [RCV003898300] |
Chr5:141528817 [GRCh38]
Chr5:140908384 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1820C>T (p.Thr607Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001363867] |
Chr5:141574030 [GRCh38]
Chr5:140953597 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2099T>C (p.Ile700Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001345594] |
Chr5:141573751 [GRCh38]
Chr5:140953318 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3665A>G (p.Asn1222Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001350213] |
Chr5:141517005 [GRCh38]
Chr5:140896572 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1796C>T (p.Pro599Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001349654] |
Chr5:141574054 [GRCh38]
Chr5:140953621 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3273+8C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001297762] |
Chr5:141527565 [GRCh38]
Chr5:140907132 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.2108C>T (p.Pro703Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001865876]|Hearing impairment [RCV001375301] |
Chr5:141573742 [GRCh38]
Chr5:140953309 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1838dup (p.Pro614fs) |
duplication |
Pendred syndrome [RCV001375466] |
Chr5:141574011..141574012 [GRCh38]
Chr5:140953578..140953579 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.145-1G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001376740]|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV001332581] |
Chr5:141587198 [GRCh38]
Chr5:140966765 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.3465G>A (p.Arg1155=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001413356]|not provided [RCV003433144] |
Chr5:141526147 [GRCh38]
Chr5:140905714 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.252G>A (p.Leu84=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001395078] |
Chr5:141587090 [GRCh38]
Chr5:140966657 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2816C>T (p.Ala939Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001313432] |
Chr5:141528904 [GRCh38]
Chr5:140908471 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3490C>T (p.Arg1164Ter) |
single nucleotide variant |
Neonatal seizure [RCV001328492] |
Chr5:141526122 [GRCh38]
Chr5:140905689 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.3575-6T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001492176] |
Chr5:141524235 [GRCh38]
Chr5:140903802 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2982T>C (p.Ala994=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001495471] |
Chr5:141528738 [GRCh38]
Chr5:140908305 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2133A>G (p.Ala711=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001464296] |
Chr5:141573717 [GRCh38]
Chr5:140953284 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1122T>C (p.Tyr374=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001435940] |
Chr5:141578266 [GRCh38]
Chr5:140957833 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.75G>A (p.Glu25=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001490933] |
Chr5:141618840 [GRCh38]
Chr5:140998407 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3552G>A (p.Glu1184=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001417247]|not provided [RCV003227974] |
Chr5:141526060 [GRCh38]
Chr5:140905627 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.3060A>G (p.Leu1020=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001462812] |
Chr5:141528541 [GRCh38]
Chr5:140908108 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1396+9A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001462839] |
Chr5:141576747 [GRCh38]
Chr5:140956314 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2094T>A (p.Ala698=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001471497] |
Chr5:141573756 [GRCh38]
Chr5:140953323 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1026G>C (p.Gly342=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001403038] |
Chr5:141578533 [GRCh38]
Chr5:140958100 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2370G>A (p.Glu790=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001442012] |
Chr5:141572029 [GRCh38]
Chr5:140951596 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3574+10G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001462145]|DIAPH1-related disorder [RCV003930963]|not provided [RCV001797178]|not specified [RCV001820157] |
Chr5:141526028 [GRCh38]
Chr5:140905595 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1701G>A (p.Ala567=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001439458] |
Chr5:141574149 [GRCh38]
Chr5:140953716 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001474399]|DIAPH1-related disorder [RCV003980397] |
Chr5:141526459 [GRCh38]
Chr5:140906026 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3022C>T (p.Arg1008Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001390711] |
Chr5:141528579 [GRCh38]
Chr5:140908146 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.2811C>G (p.Leu937=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001501243] |
Chr5:141528909 [GRCh38]
Chr5:140908476 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3219T>G (p.Val1073=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001393814] |
Chr5:141527627 [GRCh38]
Chr5:140907194 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.189G>A (p.Lys63=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001427617] |
Chr5:141587153 [GRCh38]
Chr5:140966720 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1137_1138delinsTT (p.Arg379_Leu380=) |
indel |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001438399] |
Chr5:141578250..141578251 [GRCh38]
Chr5:140957817..140957818 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.727C>T (p.Leu243=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001426487] |
Chr5:141580841 [GRCh38]
Chr5:140960408 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2463C>G (p.Ala821=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001430962] |
Chr5:141571936 [GRCh38]
Chr5:140951503 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2028C>T (p.Pro676=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001447018] |
Chr5:141573822 [GRCh38]
Chr5:140953389 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2850G>A (p.Val950=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001431124] |
Chr5:141528870 [GRCh38]
Chr5:140908437 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.840G>A (p.Leu280=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001408071] |
Chr5:141579181 [GRCh38]
Chr5:140958748 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1045-11G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001405996] |
Chr5:141578354 [GRCh38]
Chr5:140957921 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.735C>T (p.Val245=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001448114] |
Chr5:141580833 [GRCh38]
Chr5:140960400 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.930G>A (p.Leu310=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001406516] |
Chr5:141579091 [GRCh38]
Chr5:140958658 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.621-19T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001519194]|not provided [RCV001568210] |
Chr5:141582394 [GRCh38]
Chr5:140961961 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.3450G>A (p.Lys1150=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001494789] |
Chr5:141526162 [GRCh38]
Chr5:140905729 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.824+283dup |
duplication |
not provided [RCV001674955] |
Chr5:141580450..141580451 [GRCh38]
Chr5:140960017..140960018 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.3661+34G>A |
single nucleotide variant |
not provided [RCV001572451] |
Chr5:141524109 [GRCh38]
Chr5:140903676 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.117+10C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001480882] |
Chr5:141618788 [GRCh38]
Chr5:140998355 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-25dup |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002501988]|not provided [RCV001654301] |
Chr5:141527699..141527700 [GRCh38]
Chr5:140907266..140907267 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.3575-78T>G |
single nucleotide variant |
not provided [RCV001587591] |
Chr5:141524307 [GRCh38]
Chr5:140903874 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3528G>C (p.Arg1176=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001472038] |
Chr5:141526084 [GRCh38]
Chr5:140905651 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2358+36dup |
duplication |
not provided [RCV001530786] |
Chr5:141573434..141573435 [GRCh38]
Chr5:140953001..140953002 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.2545T>A (p.Leu849Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001246768] |
Chr5:141534371 [GRCh38]
Chr5:140913938 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2813A>G (p.Asn938Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001215370]|Inborn genetic diseases [RCV002561863]|not provided [RCV005054345] |
Chr5:141528907 [GRCh38]
Chr5:140908474 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3671A>G (p.Lys1224Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001205206] |
Chr5:141516999 [GRCh38]
Chr5:140896566 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.946C>G (p.Gln316Glu) |
single nucleotide variant |
Hearing impairment [RCV001375329] |
Chr5:141578613 [GRCh38]
Chr5:140958180 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1045-9T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001439078] |
Chr5:141578352 [GRCh38]
Chr5:140957919 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1045-20T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001520201]|not provided [RCV001581171] |
Chr5:141578363 [GRCh38]
Chr5:140957930 [GRCh37]
Chr5:5q31.3 |
benign|likely benign |
| NM_005219.5(DIAPH1):c.582T>C (p.Ile194=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001399706] |
Chr5:141583244 [GRCh38]
Chr5:140962811 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.118-9G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001485918] |
Chr5:141588259 [GRCh38]
Chr5:140967826 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2469C>T (p.Thr823=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001474015] |
Chr5:141571930 [GRCh38]
Chr5:140951497 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1542A>G (p.Gln514=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001498144] |
Chr5:141575066 [GRCh38]
Chr5:140954633 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3792C>T (p.Ala1264=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001501923] |
Chr5:141516878 [GRCh38]
Chr5:140896445 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1280+7T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001457334] |
Chr5:141577468 [GRCh38]
Chr5:140957035 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1462-14C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001505109] |
Chr5:141575160 [GRCh38]
Chr5:140954727 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3661+8A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001454490] |
Chr5:141524135 [GRCh38]
Chr5:140903702 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3574+8G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001496674]|DIAPH1-related disorder [RCV003980434] |
Chr5:141526030 [GRCh38]
Chr5:140905597 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.22C>T (p.Leu8=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001443704] |
Chr5:141618893 [GRCh38]
Chr5:140998460 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.825-20G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001454627] |
Chr5:141579216 [GRCh38]
Chr5:140958783 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3145C>A (p.Arg1049=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001400329] |
Chr5:141528456 [GRCh38]
Chr5:140908023 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1509A>G (p.Lys503=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001404761] |
Chr5:141575099 [GRCh38]
Chr5:140954666 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2229C>T (p.Pro743=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001432900] |
Chr5:141573621 [GRCh38]
Chr5:140953188 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1461+20_1461+21delinsAG |
indel |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001483731] |
Chr5:141576209..141576210 [GRCh38]
Chr5:140955776..140955777 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2199C>T (p.Pro733=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001483785] |
Chr5:141573651 [GRCh38]
Chr5:140953218 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.402+8C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001437728] |
Chr5:141584116 [GRCh38]
Chr5:140963683 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3357C>A (p.Gly1119=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001472143] |
Chr5:141526378 [GRCh38]
Chr5:140905945 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2436C>T (p.Phe812=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001479562]|DIAPH1-related disorder [RCV003980407] |
Chr5:141571963 [GRCh38]
Chr5:140951530 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.144+5G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003108433] |
Chr5:141588219 [GRCh38]
Chr5:140967786 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2140C>A (p.Pro714Thr) |
single nucleotide variant |
not provided [RCV001727334] |
Chr5:141573710 [GRCh38]
Chr5:140953277 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3706G>T (p.Glu1236Ter) |
single nucleotide variant |
not specified [RCV002247135] |
Chr5:141516964 [GRCh38]
Chr5:140896531 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.762C>A (p.Asn254Lys) |
single nucleotide variant |
not provided [RCV001761186] |
Chr5:141580806 [GRCh38]
Chr5:140960373 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.538G>A (p.Val180Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002540515]|not provided [RCV001769459] |
Chr5:141583288 [GRCh38]
Chr5:140962855 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3054GTT[1] (p.Leu1020del) |
microsatellite |
not provided [RCV001763109] |
Chr5:141528542..141528544 [GRCh38]
Chr5:140908109..140908111 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3424C>T (p.Arg1142Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002540426]|not provided [RCV001752357] |
Chr5:141526311 [GRCh38]
Chr5:140905878 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.910dup (p.Ser304fs) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001944993] |
Chr5:141579110..141579111 [GRCh38]
Chr5:140958677..140958678 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.3410A>T (p.Asp1137Val) |
single nucleotide variant |
not provided [RCV001786014] |
Chr5:141526325 [GRCh38]
Chr5:140905892 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3467G>A (p.Arg1156Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002543957]|Inborn genetic diseases [RCV004980635]|not provided [RCV001751885] |
Chr5:141526145 [GRCh38]
Chr5:140905712 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2685T>G (p.Ile895Met) |
single nucleotide variant |
not provided [RCV001752303] |
Chr5:141529265 [GRCh38]
Chr5:140908832 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3812C>T (p.Ala1271Val) |
single nucleotide variant |
not provided [RCV001752399] |
Chr5:141516858 [GRCh38]
Chr5:140896425 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1979G>T (p.Gly660Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005213578]|not provided [RCV001752513] |
Chr5:141573871 [GRCh38]
Chr5:140953438 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.658T>C (p.Cys220Arg) |
single nucleotide variant |
not provided [RCV001760815] |
Chr5:141582338 [GRCh38]
Chr5:140961905 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.933+9A>G |
single nucleotide variant |
not specified [RCV001819550] |
Chr5:141579079 [GRCh38]
Chr5:140958646 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.300+7T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002077277]|not specified [RCV001822266] |
Chr5:141587035 [GRCh38]
Chr5:140966602 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.3111T>G (p.Phe1037Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001907915]|Inborn genetic diseases [RCV003164214] |
Chr5:141528490 [GRCh38]
Chr5:140908057 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1000A>G (p.Ile334Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001971368] |
Chr5:141578559 [GRCh38]
Chr5:140958126 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2694G>A (p.Met898Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001863727] |
Chr5:141529256 [GRCh38]
Chr5:140908823 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3772C>T (p.Pro1258Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002024044] |
Chr5:141516898 [GRCh38]
Chr5:140896465 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.854A>T (p.Glu285Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001912245] |
Chr5:141579167 [GRCh38]
Chr5:140958734 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1257G>T (p.Leu419Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001915039] |
Chr5:141577498 [GRCh38]
Chr5:140957065 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3419A>G (p.Asn1140Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001987934] |
Chr5:141526316 [GRCh38]
Chr5:140905883 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1201G>C (p.Val401Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001893034]|Inborn genetic diseases [RCV004039169]|not provided [RCV004774508] |
Chr5:141577554 [GRCh38]
Chr5:140957121 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1019G>A (p.Arg340His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001988826] |
Chr5:141578540 [GRCh38]
Chr5:140958107 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3209A>C (p.Glu1070Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001893972] |
Chr5:141527637 [GRCh38]
Chr5:140907204 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2370G>T (p.Glu790Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001914695] |
Chr5:141572029 [GRCh38]
Chr5:140951596 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1700C>T (p.Ala567Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002044172]|Inborn genetic diseases [RCV003164024] |
Chr5:141574150 [GRCh38]
Chr5:140953717 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1808G>C (p.Gly603Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001872903] |
Chr5:141574042 [GRCh38]
Chr5:140953609 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.218C>T (p.Ala73Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001873948] |
Chr5:141587124 [GRCh38]
Chr5:140966691 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2050A>T (p.Ser684Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001988501] |
Chr5:141573800 [GRCh38]
Chr5:140953367 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2347A>G (p.Asn783Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001896609]|Inborn genetic diseases [RCV004611969] |
Chr5:141573503 [GRCh38]
Chr5:140953070 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.596A>G (p.His199Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001873008] |
Chr5:141583230 [GRCh38]
Chr5:140962797 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2645A>T (p.Asn882Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001895381]|not provided [RCV003313244] |
Chr5:141529634 [GRCh38]
Chr5:140909201 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3340C>G (p.Leu1114Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001911913] |
Chr5:141526395 [GRCh38]
Chr5:140905962 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2101C>T (p.Pro701Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001965366] |
Chr5:141573749 [GRCh38]
Chr5:140953316 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.96C>A (p.Asp32Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001927694] |
Chr5:141618819 [GRCh38]
Chr5:140998386 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1420_1421delinsAG (p.Val474Arg) |
indel |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001895444] |
Chr5:141576270..141576271 [GRCh38]
Chr5:140955837..140955838 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3179A>G (p.Asp1060Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001970392] |
Chr5:141527667 [GRCh38]
Chr5:140907234 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2000CTT[1] (p.Ser668del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001929099]|not provided [RCV003238879] |
Chr5:141573845..141573847 [GRCh38]
Chr5:140953412..140953414 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.684+6A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002023873]|DIAPH1-related disorder [RCV003978466] |
Chr5:141582306 [GRCh38]
Chr5:140961873 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1157A>G (p.Glu386Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001971008] |
Chr5:141578231 [GRCh38]
Chr5:140957798 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2414G>A (p.Arg805His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002005309] |
Chr5:141571985 [GRCh38]
Chr5:140951552 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.114A>G (p.Lys38=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002045577] |
Chr5:141618801 [GRCh38]
Chr5:140998368 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1915A>C (p.Ile639Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001984846]|Inborn genetic diseases [RCV004042904] |
Chr5:141573935 [GRCh38]
Chr5:140953502 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1741C>T (p.Pro581Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001966196] |
Chr5:141574109 [GRCh38]
Chr5:140953676 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3038C>T (p.Thr1013Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001910179] |
Chr5:141528563 [GRCh38]
Chr5:140908130 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1948A>G (p.Thr650Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001986213] |
Chr5:141573902 [GRCh38]
Chr5:140953469 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.59_60delinsAA (p.Gly20Glu) |
indel |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002003974]|not provided [RCV004721000] |
Chr5:141618855..141618856 [GRCh38]
Chr5:140998422..140998423 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.994G>A (p.Val332Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001894335] |
Chr5:141578565 [GRCh38]
Chr5:140958132 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3293A>T (p.Gln1098Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001967370] |
Chr5:141526442 [GRCh38]
Chr5:140906009 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001861040]|Vascular dementia [RCV002051760]|not provided [RCV003317520] |
Chr5:141578295 [GRCh38]
Chr5:140957862 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) |
copy number gain |
not specified [RCV002053526] |
Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.2773G>A (p.Val925Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002001817]|Inborn genetic diseases [RCV002561525] |
Chr5:141529177 [GRCh38]
Chr5:140908744 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.1822C>G (p.Pro608Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001945368] |
Chr5:141574028 [GRCh38]
Chr5:140953595 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3274-5T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001908332] |
Chr5:141526466 [GRCh38]
Chr5:140906033 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2514G>T (p.Lys838Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001966736] |
Chr5:141534402 [GRCh38]
Chr5:140913969 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3781C>T (p.Leu1261Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002005155] |
Chr5:141516889 [GRCh38]
Chr5:140896456 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3803T>C (p.Val1268Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001892582] |
Chr5:141516867 [GRCh38]
Chr5:140896434 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2921C>G (p.Ser974Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001928426] |
Chr5:141528799 [GRCh38]
Chr5:140908366 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1854_1856dup (p.Pro620dup) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001912494] |
Chr5:141573993..141573994 [GRCh38]
Chr5:140953560..140953561 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1606G>T (p.Asp536Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001913206] |
Chr5:141575002 [GRCh38]
Chr5:140954569 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2167G>A (p.Gly723Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001970450] |
Chr5:141573683 [GRCh38]
Chr5:140953250 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.87G>A (p.Ala29=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002041820]|not provided [RCV004693783] |
Chr5:141618828 [GRCh38]
Chr5:140998395 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.3332T>C (p.Met1111Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001872506] |
Chr5:141526403 [GRCh38]
Chr5:140905970 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3430A>G (p.Met1144Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001987265] |
Chr5:141526305 [GRCh38]
Chr5:140905872 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3550G>C (p.Glu1184Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001910875] |
Chr5:141526062 [GRCh38]
Chr5:140905629 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.560G>C (p.Gly187Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002004844] |
Chr5:141583266 [GRCh38]
Chr5:140962833 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1681G>A (p.Glu561Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001927877] |
Chr5:141574169 [GRCh38]
Chr5:140953736 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3188A>G (p.Lys1063Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002043140] |
Chr5:141527658 [GRCh38]
Chr5:140907225 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1439A>G (p.Lys480Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001987321]|not provided [RCV002225951] |
Chr5:141576252 [GRCh38]
Chr5:140955819 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2764C>A (p.Gln922Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001968320] |
Chr5:141529186 [GRCh38]
Chr5:140908753 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.119C>T (p.Thr40Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001983888] |
Chr5:141588249 [GRCh38]
Chr5:140967816 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.512C>G (p.Ser171Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001927503] |
Chr5:141583506 [GRCh38]
Chr5:140963073 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2677-9_2677-6del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002003024] |
Chr5:141529279..141529282 [GRCh38]
Chr5:140908846..140908849 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.2025C>G (p.Ile675Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002039599] |
Chr5:141573825 [GRCh38]
Chr5:140953392 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3212G>A (p.Arg1071His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001912718] |
Chr5:141527634 [GRCh38]
Chr5:140907201 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.459G>T (p.Arg153Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001986752] |
Chr5:141583559 [GRCh38]
Chr5:140963126 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.614C>T (p.Thr205Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001893139] |
Chr5:141583212 [GRCh38]
Chr5:140962779 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1892CTT[1] (p.Ser632del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001893593] |
Chr5:141573953..141573955 [GRCh38]
Chr5:140953520..140953522 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2030C>T (p.Pro677Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001968507] |
Chr5:141573820 [GRCh38]
Chr5:140953387 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1927C>A (p.Pro643Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001928031] |
Chr5:141573923 [GRCh38]
Chr5:140953490 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1834C>G (p.Pro612Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002023691] |
Chr5:141574016 [GRCh38]
Chr5:140953583 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3128A>G (p.His1043Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001946468] |
Chr5:141528473 [GRCh38]
Chr5:140908040 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3018+3G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002002265] |
Chr5:141528699 [GRCh38]
Chr5:140908266 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3018+6C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001911176] |
Chr5:141528696 [GRCh38]
Chr5:140908263 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.961C>G (p.Leu321Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001913437] |
Chr5:141578598 [GRCh38]
Chr5:140958165 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3748G>C (p.Val1250Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001911202] |
Chr5:141516922 [GRCh38]
Chr5:140896489 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.975G>A (p.Ala325=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001984814] |
Chr5:141578584 [GRCh38]
Chr5:140958151 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.116T>C (p.Phe39Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001911516] |
Chr5:141618799 [GRCh38]
Chr5:140998366 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1480G>T (p.Ala494Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002050591] |
Chr5:141575128 [GRCh38]
Chr5:140954695 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.222A>G (p.Ser74=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002037604] |
Chr5:141587120 [GRCh38]
Chr5:140966687 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.440T>C (p.Met147Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001943107] |
Chr5:141583578 [GRCh38]
Chr5:140963145 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1853C>T (p.Pro618Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001944430]|Inborn genetic diseases [RCV004612016] |
Chr5:141573997 [GRCh38]
Chr5:140953564 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2296G>A (p.Gly766Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001880372] |
Chr5:141573554 [GRCh38]
Chr5:140953121 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3604C>G (p.Leu1202Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001886734] |
Chr5:141524200 [GRCh38]
Chr5:140903767 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1213A>G (p.Lys405Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001884549] |
Chr5:141577542 [GRCh38]
Chr5:140957109 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3808C>T (p.Arg1270Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001974242] |
Chr5:141516862 [GRCh38]
Chr5:140896429 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1791ACC[1] (p.Pro599_Pro600del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002038592] |
Chr5:141574051..141574056 [GRCh38]
Chr5:140953618..140953623 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1151G>A (p.Arg384His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001886623]|Inborn genetic diseases [RCV003264187]|not provided [RCV005051924] |
Chr5:141578237 [GRCh38]
Chr5:140957804 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1781C>T (p.Thr594Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002000363] |
Chr5:141574069 [GRCh38]
Chr5:140953636 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2309A>G (p.Lys770Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002000793] |
Chr5:141573541 [GRCh38]
Chr5:140953108 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2359C>T (p.Leu787Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002036485] |
Chr5:141572040 [GRCh38]
Chr5:140951607 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2480A>C (p.Lys827Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001884548] |
Chr5:141571430 [GRCh38]
Chr5:140950997 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1915A>G (p.Ile639Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001925363]|not provided [RCV003229902] |
Chr5:141573935 [GRCh38]
Chr5:140953502 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1280+2T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002001052] |
Chr5:141577473 [GRCh38]
Chr5:140957040 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.1018C>A (p.Arg340Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001942951]|Inborn genetic diseases [RCV002556303] |
Chr5:141578541 [GRCh38]
Chr5:140958108 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2795G>T (p.Arg932Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001923396]|Inborn genetic diseases [RCV004975860] |
Chr5:141528925 [GRCh38]
Chr5:140908492 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.127C>T (p.Arg43Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001989378] |
Chr5:141588241 [GRCh38]
Chr5:140967808 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.206G>C (p.Arg69Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001887150] |
Chr5:141587136 [GRCh38]
Chr5:140966703 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1891C>G (p.Pro631Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001887293] |
Chr5:141573959 [GRCh38]
Chr5:140953526 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.856A>G (p.Arg286Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001958175] |
Chr5:141579165 [GRCh38]
Chr5:140958732 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1606G>A (p.Asp536Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001973906]|Inborn genetic diseases [RCV002573422] |
Chr5:141575002 [GRCh38]
Chr5:140954569 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.922A>G (p.Ile308Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001878581]|not provided [RCV003442924] |
Chr5:141579099 [GRCh38]
Chr5:140958666 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1859C>A (p.Pro620His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001992355] |
Chr5:141573991 [GRCh38]
Chr5:140953558 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2242C>A (p.Pro748Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002051384] |
Chr5:141573608 [GRCh38]
Chr5:140953175 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2801G>A (p.Arg934Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001881540]|not provided [RCV004693873] |
Chr5:141528919 [GRCh38]
Chr5:140908486 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.621-2A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002033446] |
Chr5:141582377 [GRCh38]
Chr5:140961944 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.1348C>A (p.Pro450Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001957614] |
Chr5:141576804 [GRCh38]
Chr5:140956371 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.239C>T (p.Thr80Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002046865] |
Chr5:141587103 [GRCh38]
Chr5:140966670 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2024T>C (p.Ile675Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001878848] |
Chr5:141573826 [GRCh38]
Chr5:140953393 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2267G>C (p.Gly756Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001993784] |
Chr5:141573583 [GRCh38]
Chr5:140953150 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3689C>T (p.Thr1230Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001995662] |
Chr5:141516981 [GRCh38]
Chr5:140896548 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1015A>G (p.Met339Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001900656]|Inborn genetic diseases [RCV004611931] |
Chr5:141578544 [GRCh38]
Chr5:140958111 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3172A>T (p.Asn1058Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001876494] |
Chr5:141527674 [GRCh38]
Chr5:140907241 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.70G>C (p.Asp24His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001993824]|not specified [RCV005238125] |
Chr5:141618845 [GRCh38]
Chr5:140998412 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3680G>A (p.Cys1227Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002031019] |
Chr5:141516990 [GRCh38]
Chr5:140896557 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2189C>T (p.Pro730Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001935379] |
Chr5:141573661 [GRCh38]
Chr5:140953228 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.629A>G (p.Asp210Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001897063] |
Chr5:141582367 [GRCh38]
Chr5:140961934 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3538C>G (p.Gln1180Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002047345] |
Chr5:141526074 [GRCh38]
Chr5:140905641 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001919847]|not provided [RCV002264421] |
Chr5:141573741..141573742 [GRCh38]
Chr5:140953308..140953309 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.2023A>G (p.Ile675Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002027530] |
Chr5:141573827 [GRCh38]
Chr5:140953394 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3655C>T (p.Arg1219Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001902274] |
Chr5:141524149 [GRCh38]
Chr5:140903716 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2359-18C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001989253] |
Chr5:141572058 [GRCh38]
Chr5:140951625 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.72T>A (p.Asp24Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001922152] |
Chr5:141618843 [GRCh38]
Chr5:140998410 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2035C>T (p.Pro679Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002047642] |
Chr5:141573815 [GRCh38]
Chr5:140953382 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1984G>T (p.Gly662Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002046391] |
Chr5:141573866 [GRCh38]
Chr5:140953433 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1468T>C (p.Ser490Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001917486] |
Chr5:141575140 [GRCh38]
Chr5:140954707 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.402+2T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001976454] |
Chr5:141584122 [GRCh38]
Chr5:140963689 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.2239A>G (p.Met747Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002036039] |
Chr5:141573611 [GRCh38]
Chr5:140953178 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3148+3G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001903695] |
Chr5:141528450 [GRCh38]
Chr5:140908017 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1363C>T (p.Arg455Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001979977] |
Chr5:141576789 [GRCh38]
Chr5:140956356 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.625T>C (p.Tyr209His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002049315] |
Chr5:141582371 [GRCh38]
Chr5:140961938 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3167A>C (p.Gln1056Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001997620] |
Chr5:141527679 [GRCh38]
Chr5:140907246 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3166C>T (p.Gln1056Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001880335] |
Chr5:141527680 [GRCh38]
Chr5:140907247 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.2203G>T (p.Gly735Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002030844] |
Chr5:141573647 [GRCh38]
Chr5:140953214 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3336G>C (p.Glu1112Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001958540] |
Chr5:141526399 [GRCh38]
Chr5:140905966 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.751G>A (p.Ala251Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002035565] |
Chr5:141580817 [GRCh38]
Chr5:140960384 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2330T>C (p.Val777Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002032960] |
Chr5:141573520 [GRCh38]
Chr5:140953087 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1712C>G (p.Thr571Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001960393] |
Chr5:141574138 [GRCh38]
Chr5:140953705 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2926C>T (p.Leu976Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002047041] |
Chr5:141528794 [GRCh38]
Chr5:140908361 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3629C>T (p.Ala1210Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001921599] |
Chr5:141524175 [GRCh38]
Chr5:140903742 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.670T>C (p.Phe224Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001995888] |
Chr5:141582326 [GRCh38]
Chr5:140961893 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2676+16G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001998385] |
Chr5:141529587 [GRCh38]
Chr5:140909154 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.3374A>T (p.Asp1125Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001866304] |
Chr5:141526361 [GRCh38]
Chr5:140905928 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.197C>G (p.Ser66Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001903071] |
Chr5:141587145 [GRCh38]
Chr5:140966712 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1795C>T (p.Pro599Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001981363] |
Chr5:141574055 [GRCh38]
Chr5:140953622 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1105G>A (p.Gly369Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001930160] |
Chr5:141578283 [GRCh38]
Chr5:140957850 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2282C>T (p.Pro761Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001918282] |
Chr5:141573568 [GRCh38]
Chr5:140953135 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.477G>T (p.Met159Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001957988] |
Chr5:141583541 [GRCh38]
Chr5:140963108 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.634C>T (p.Arg212Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002019627]|not provided [RCV003481244] |
Chr5:141582362 [GRCh38]
Chr5:140961929 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.988T>A (p.Phe330Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002009700] |
Chr5:141578571 [GRCh38]
Chr5:140958138 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2861A>G (p.Lys954Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001878069] |
Chr5:141528859 [GRCh38]
Chr5:140908426 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3705G>A (p.Ser1235=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002016718]|DIAPH1-related disorder [RCV003893077] |
Chr5:141516965 [GRCh38]
Chr5:140896532 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.2237G>A (p.Gly746Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001960016] |
Chr5:141573613 [GRCh38]
Chr5:140953180 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1570C>T (p.His524Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001919895]|not provided [RCV004815738] |
Chr5:141575038 [GRCh38]
Chr5:140954605 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1271A>G (p.Tyr424Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001952532]|Inborn genetic diseases [RCV004975920]|not provided [RCV002077344] |
Chr5:141577484 [GRCh38]
Chr5:140957051 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2026C>T (p.Pro676Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001997981] |
Chr5:141573824 [GRCh38]
Chr5:140953391 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1766C>T (p.Pro589Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001879679] |
Chr5:141574084 [GRCh38]
Chr5:140953651 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NC_000005.9:g.(?_140896398)_(140998501_?)dup |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001981576] |
Chr5:140896398..140998501 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3302A>G (p.Tyr1101Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001930703] |
Chr5:141526433 [GRCh38]
Chr5:140906000 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2338C>T (p.Arg780Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001923717] |
Chr5:141573512 [GRCh38]
Chr5:140953079 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1002C>G (p.Ile334Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001955378] |
Chr5:141578557 [GRCh38]
Chr5:140958124 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2563A>C (p.Lys855Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001937744] |
Chr5:141534353 [GRCh38]
Chr5:140913920 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3748G>A (p.Val1250Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002036578] |
Chr5:141516922 [GRCh38]
Chr5:140896489 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3793A>T (p.Lys1265Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002011345] |
Chr5:141516877 [GRCh38]
Chr5:140896444 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2183C>T (p.Pro728Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001877895] |
Chr5:141573667 [GRCh38]
Chr5:140953234 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2066C>G (p.Pro689Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002013948] |
Chr5:141573784 [GRCh38]
Chr5:140953351 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1055A>G (p.Glu352Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001961085] |
Chr5:141578333 [GRCh38]
Chr5:140957900 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2100dup (p.Pro701fs) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001907129] |
Chr5:141573749..141573750 [GRCh38]
Chr5:140953316..140953317 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.27G>T (p.Gly9=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001959147] |
Chr5:141618888 [GRCh38]
Chr5:140998455 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3463C>G (p.Arg1155Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001997671] |
Chr5:141526149 [GRCh38]
Chr5:140905716 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2470A>G (p.Lys824Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001925680]|Inborn genetic diseases [RCV004611988] |
Chr5:141571929 [GRCh38]
Chr5:140951496 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1960C>T (p.Pro654Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001997709] |
Chr5:141573890 [GRCh38]
Chr5:140953457 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1925C>T (p.Pro642Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001924852] |
Chr5:141573925 [GRCh38]
Chr5:140953492 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.544A>G (p.Thr182Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001998525] |
Chr5:141583282 [GRCh38]
Chr5:140962849 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2061C>G (p.Ile687Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001940540] |
Chr5:141573789 [GRCh38]
Chr5:140953356 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.139G>C (p.Asp47His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001982160] |
Chr5:141588229 [GRCh38]
Chr5:140967796 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1016del (p.Met339fs) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001906522] |
Chr5:141578543 [GRCh38]
Chr5:140958110 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.2105C>T (p.Pro702Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001998548] |
Chr5:141573745 [GRCh38]
Chr5:140953312 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1310G>A (p.Cys437Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001961024] |
Chr5:141576842 [GRCh38]
Chr5:140956409 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1018C>T (p.Arg340Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001933928]|not provided [RCV003235625] |
Chr5:141578541 [GRCh38]
Chr5:140958108 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1406T>C (p.Ile469Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001921212] |
Chr5:141576285 [GRCh38]
Chr5:140955852 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1436C>G (p.Ala479Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002027130] |
Chr5:141576255 [GRCh38]
Chr5:140955822 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2056_2094del (p.Arg686_Ala698del) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001903946] |
Chr5:141573756..141573794 [GRCh38]
Chr5:140953323..140953361 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3220C>G (p.Gln1074Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001903786] |
Chr5:141527626 [GRCh38]
Chr5:140907193 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1613A>C (p.Glu538Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002026119]|DIAPH1-related disorder [RCV003402061] |
Chr5:141574995 [GRCh38]
Chr5:140954562 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2018C>T (p.Thr673Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001973803] |
Chr5:141573832 [GRCh38]
Chr5:140953399 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2974A>G (p.Arg992Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002012413] |
Chr5:141528746 [GRCh38]
Chr5:140908313 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.545C>A (p.Thr182Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001930547]|Inborn genetic diseases [RCV002556400] |
Chr5:141583281 [GRCh38]
Chr5:140962848 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.2650G>A (p.Ala884Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001916869] |
Chr5:141529629 [GRCh38]
Chr5:140909196 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.468G>T (p.Leu156Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001917826] |
Chr5:141583550 [GRCh38]
Chr5:140963117 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.308T>C (p.Met103Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002010038] |
Chr5:141584218 [GRCh38]
Chr5:140963785 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.253C>A (p.Gln85Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001919830] |
Chr5:141587089 [GRCh38]
Chr5:140966656 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2369A>T (p.Glu790Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002050085] |
Chr5:141572030 [GRCh38]
Chr5:140951597 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3331A>T (p.Met1111Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001973485] |
Chr5:141526404 [GRCh38]
Chr5:140905971 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2236G>T (p.Gly746Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001902144] |
Chr5:141573614 [GRCh38]
Chr5:140953181 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1397-3C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001883216] |
Chr5:141576297 [GRCh38]
Chr5:140955864 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1262G>A (p.Arg421Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001994060]|not provided [RCV003442986] |
Chr5:141577493 [GRCh38]
Chr5:140957060 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3818A>T (p.Ter1273Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001979609] |
Chr5:141516852 [GRCh38]
Chr5:140896419 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2013_2048dup (p.Gly672_Gly683dup) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002029457] |
Chr5:141573801..141573802 [GRCh38]
Chr5:140953368..140953369 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.933+6T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001923402] |
Chr5:141579082 [GRCh38]
Chr5:140958649 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3662-11T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002148236] |
Chr5:141517019 [GRCh38]
Chr5:140896586 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.403-11C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002076376] |
Chr5:141583626 [GRCh38]
Chr5:140963193 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.250T>C (p.Leu84=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002105249] |
Chr5:141587092 [GRCh38]
Chr5:140966659 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-17T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002085253] |
Chr5:141527714 [GRCh38]
Chr5:140907281 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2778+20G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002073748] |
Chr5:141529152 [GRCh38]
Chr5:140908719 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2677-11C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002207262] |
Chr5:141529284 [GRCh38]
Chr5:140908851 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1821T>G (p.Thr607=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002191035] |
Chr5:141574029 [GRCh38]
Chr5:140953596 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1755C>T (p.Ala585=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002170202] |
Chr5:141574095 [GRCh38]
Chr5:140953662 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-19T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002086570] |
Chr5:141527716 [GRCh38]
Chr5:140907283 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2502T>C (p.Gly834=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002127865] |
Chr5:141534414 [GRCh38]
Chr5:140913981 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-14T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002205102] |
Chr5:141527711 [GRCh38]
Chr5:140907278 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3273+11T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002106539] |
Chr5:141527562 [GRCh38]
Chr5:140907129 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.144+14G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002164909] |
Chr5:141588210 [GRCh38]
Chr5:140967777 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2025C>T (p.Ile675=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002145192] |
Chr5:141573825 [GRCh38]
Chr5:140953392 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1641+7C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002190052] |
Chr5:141574960 [GRCh38]
Chr5:140954527 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.546A>G (p.Thr182=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002187884] |
Chr5:141583280 [GRCh38]
Chr5:140962847 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2483-9C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002185499] |
Chr5:141534442 [GRCh38]
Chr5:140914009 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2547A>G (p.Leu849=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002186300] |
Chr5:141534369 [GRCh38]
Chr5:140913936 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2568A>G (p.Thr856=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002110237] |
Chr5:141534348 [GRCh38]
Chr5:140913915 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.145-12dup |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002126846] |
Chr5:141587208..141587209 [GRCh38]
Chr5:140966775..140966776 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.2358+7G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002189271] |
Chr5:141573485 [GRCh38]
Chr5:140953052 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.999C>T (p.His333=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002125661] |
Chr5:141578560 [GRCh38]
Chr5:140958127 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1635A>C (p.Thr545=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002127047] |
Chr5:141574973 [GRCh38]
Chr5:140954540 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.402+16G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002207410] |
Chr5:141584108 [GRCh38]
Chr5:140963675 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.726A>C (p.Leu242=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002072422] |
Chr5:141580842 [GRCh38]
Chr5:140960409 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2589T>C (p.Phe863=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002124300] |
Chr5:141529690 [GRCh38]
Chr5:140909257 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2622T>A (p.Ile874=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002105502] |
Chr5:141529657 [GRCh38]
Chr5:140909224 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2676+8G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002147003] |
Chr5:141529595 [GRCh38]
Chr5:140909162 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3661+16G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002125148] |
Chr5:141524127 [GRCh38]
Chr5:140903694 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.759C>T (p.Pro253=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002125120] |
Chr5:141580809 [GRCh38]
Chr5:140960376 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2482+10C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002167289] |
Chr5:141571418 [GRCh38]
Chr5:140950985 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.27G>A (p.Gly9=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002210099] |
Chr5:141618888 [GRCh38]
Chr5:140998455 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.825-20G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002127824] |
Chr5:141579216 [GRCh38]
Chr5:140958783 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1461+18A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002165884] |
Chr5:141576212 [GRCh38]
Chr5:140955779 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.301-4C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002169334] |
Chr5:141584229 [GRCh38]
Chr5:140963796 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.144+19G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002107336] |
Chr5:141588205 [GRCh38]
Chr5:140967772 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3148+16del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002087192] |
Chr5:141528437 [GRCh38]
Chr5:140908004 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.348G>A (p.Lys116=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002192207] |
Chr5:141584178 [GRCh38]
Chr5:140963745 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3019-17del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002210056] |
Chr5:141528599 [GRCh38]
Chr5:140908166 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1587A>G (p.Gln529=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002210518] |
Chr5:141575021 [GRCh38]
Chr5:140954588 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3662-6T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002174153] |
Chr5:141517014 [GRCh38]
Chr5:140896581 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3662-17C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002111021] |
Chr5:141517025 [GRCh38]
Chr5:140896592 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.3149-14_3149-13insG |
insertion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002113343] |
Chr5:141527710..141527711 [GRCh38]
Chr5:140907277..140907278 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2988T>A (p.Ala996=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002080227] |
Chr5:141528732 [GRCh38]
Chr5:140908299 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1239C>T (p.Ile413=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002194515] |
Chr5:141577516 [GRCh38]
Chr5:140957083 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.69A>T (p.Pro23=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002113110] |
Chr5:141618846 [GRCh38]
Chr5:140998413 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2779-20C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002097178] |
Chr5:141528961 [GRCh38]
Chr5:140908528 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1029A>G (p.Leu343=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002093367] |
Chr5:141578530 [GRCh38]
Chr5:140958097 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.402+14_402+33del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002094798] |
Chr5:141584091..141584110 [GRCh38]
Chr5:140963658..140963677 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.825-15C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002215992] |
Chr5:141579211 [GRCh38]
Chr5:140958778 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3574+16G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002135216] |
Chr5:141526022 [GRCh38]
Chr5:140905589 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3726C>G (p.Ala1242=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002171563] |
Chr5:141516944 [GRCh38]
Chr5:140896511 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1461+19_1461+20delinsGA |
indel |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002134730] |
Chr5:141576210..141576211 [GRCh38]
Chr5:140955777..140955778 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1462-11T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002116930] |
Chr5:141575157 [GRCh38]
Chr5:140954724 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2359-20del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002145550] |
Chr5:141572060 [GRCh38]
Chr5:140951627 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2358+17A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002115408] |
Chr5:141573475 [GRCh38]
Chr5:140953042 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3274-10T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002079479] |
Chr5:141526471 [GRCh38]
Chr5:140906038 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1462-19T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002078111] |
Chr5:141575165 [GRCh38]
Chr5:140954732 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1212A>G (p.Ser404=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002095231] |
Chr5:141577543 [GRCh38]
Chr5:140957110 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1488T>C (p.His496=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002215201] |
Chr5:141575120 [GRCh38]
Chr5:140954687 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-18_3149-17insG |
insertion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002116910] |
Chr5:141527714..141527715 [GRCh38]
Chr5:140907281..140907282 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3519G>A (p.Glu1173=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002215120]|not provided [RCV003426306] |
Chr5:141526093 [GRCh38]
Chr5:140905660 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.54G>A (p.Lys18=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002192763] |
Chr5:141618861 [GRCh38]
Chr5:140998428 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2640G>A (p.Glu880=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002193748] |
Chr5:141529639 [GRCh38]
Chr5:140909206 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-20_3149-19insG |
insertion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002215148] |
Chr5:141527716..141527717 [GRCh38]
Chr5:140907283..140907284 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3019-16C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002129032] |
Chr5:141528598 [GRCh38]
Chr5:140908165 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.533+11T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002112826] |
Chr5:141583474 [GRCh38]
Chr5:140963041 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2217T>G (p.Pro739=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002187129] |
Chr5:141573633 [GRCh38]
Chr5:140953200 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2208T>C (p.Pro736=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002109456] |
Chr5:141573642 [GRCh38]
Chr5:140953209 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.933+14C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002079492] |
Chr5:141579074 [GRCh38]
Chr5:140958641 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.942C>T (p.Cys314=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002173050] |
Chr5:141578617 [GRCh38]
Chr5:140958184 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.118-18C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002173635] |
Chr5:141588268 [GRCh38]
Chr5:140967835 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2483-17A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002147934] |
Chr5:141534450 [GRCh38]
Chr5:140914017 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3633A>T (p.Ala1211=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002089985] |
Chr5:141524171 [GRCh38]
Chr5:140903738 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1842T>G (p.Pro614=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002077684] |
Chr5:141574008 [GRCh38]
Chr5:140953575 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.825-16C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002212133] |
Chr5:141579212 [GRCh38]
Chr5:140958779 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3132G>C (p.Val1044=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002116400] |
Chr5:141528469 [GRCh38]
Chr5:140908036 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2256A>T (p.Pro752=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002086292] |
Chr5:141573594 [GRCh38]
Chr5:140953161 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1462-15dup |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002173838] |
Chr5:141575160..141575161 [GRCh38]
Chr5:140954727..140954728 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-13T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002116664] |
Chr5:141527710 [GRCh38]
Chr5:140907277 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.939A>G (p.Gly313=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002116890] |
Chr5:141578620 [GRCh38]
Chr5:140958187 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1674C>T (p.Ala558=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002115637] |
Chr5:141574176 [GRCh38]
Chr5:140953743 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1281-20C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002173902] |
Chr5:141576891 [GRCh38]
Chr5:140956458 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1167C>T (p.Asp389=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002148807] |
Chr5:141577588 [GRCh38]
Chr5:140957155 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.213T>C (p.Ser71=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002105200] |
Chr5:141587129 [GRCh38]
Chr5:140966696 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1397-13T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002103885] |
Chr5:141576307 [GRCh38]
Chr5:140955874 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2292A>G (p.Pro764=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002103937] |
Chr5:141573558 [GRCh38]
Chr5:140953125 [GRCh37]
Chr5:5q31.3 |
likely benign |
| Single allele |
deletion |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV002227585] |
Chr5:141572725..141615700 [GRCh38]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.1641+7C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002218714] |
Chr5:141574960 [GRCh38]
Chr5:140954527 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3030C>G (p.Thr1010=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002098347] |
Chr5:141528571 [GRCh38]
Chr5:140908138 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2473+18T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002136028] |
Chr5:141571908 [GRCh38]
Chr5:140951475 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2931A>G (p.Leu977=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002137665] |
Chr5:141528789 [GRCh38]
Chr5:140908356 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1280+15T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002136315] |
Chr5:141577460 [GRCh38]
Chr5:140957027 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2010T>C (p.Pro670=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002217863] |
Chr5:141573840 [GRCh38]
Chr5:140953407 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2677-14C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002140675] |
Chr5:141529287 [GRCh38]
Chr5:140908854 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3273+11T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002161273] |
Chr5:141527562 [GRCh38]
Chr5:140907129 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.738A>G (p.Arg246=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002218390] |
Chr5:141580830 [GRCh38]
Chr5:140960397 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1377T>A (p.Ile459=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002218289] |
Chr5:141576775 [GRCh38]
Chr5:140956342 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.685-10G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002199680] |
Chr5:141580893 [GRCh38]
Chr5:140960460 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3330C>T (p.Asn1110=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002181053] |
Chr5:141526405 [GRCh38]
Chr5:140905972 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2482+19C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002144563] |
Chr5:141571409 [GRCh38]
Chr5:140950976 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1642-9T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002160012] |
Chr5:141574217 [GRCh38]
Chr5:140953784 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2100T>C (p.Ile700=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002142955] |
Chr5:141573750 [GRCh38]
Chr5:140953317 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1462-7dup |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002117886] |
Chr5:141575152..141575153 [GRCh38]
Chr5:140954719..140954720 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.621-18T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002081856] |
Chr5:141582393 [GRCh38]
Chr5:140961960 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3662-7C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002143614] |
Chr5:141517015 [GRCh38]
Chr5:140896582 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2041T>C (p.Leu681=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002100825] |
Chr5:141573809 [GRCh38]
Chr5:140953376 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1683A>G (p.Glu561=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002100826] |
Chr5:141574167 [GRCh38]
Chr5:140953734 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1821TCC[4] (p.Pro614_Pro620del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002204547] |
Chr5:141573997..141574017 [GRCh38]
Chr5:140953564..140953584 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1281-20C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002098962] |
Chr5:141576891 [GRCh38]
Chr5:140956458 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2103C>G (p.Pro701=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002204716] |
Chr5:141573747 [GRCh38]
Chr5:140953314 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.934-6T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002103102] |
Chr5:141578631 [GRCh38]
Chr5:140958198 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1462-4C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002176713] |
Chr5:141575150 [GRCh38]
Chr5:140954717 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.246G>A (p.Gln82=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002157476] |
Chr5:141587096 [GRCh38]
Chr5:140966663 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3198T>C (p.Ile1066=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002162590]|not specified [RCV004801163] |
Chr5:141527648 [GRCh38]
Chr5:140907215 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2359-19A>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002082929] |
Chr5:141572059 [GRCh38]
Chr5:140951626 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.630T>C (p.Asp210=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002157629] |
Chr5:141582366 [GRCh38]
Chr5:140961933 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1704A>G (p.Ala568=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002097846] |
Chr5:141574146 [GRCh38]
Chr5:140953713 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2487G>A (p.Lys829=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002137426] |
Chr5:141534429 [GRCh38]
Chr5:140913996 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1126C>T (p.Leu376=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002179064] |
Chr5:141578262 [GRCh38]
Chr5:140957829 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3156T>G (p.Ala1052=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002162983] |
Chr5:141527690 [GRCh38]
Chr5:140907257 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2359-9T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002083498] |
Chr5:141572049 [GRCh38]
Chr5:140951616 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.711A>G (p.Thr237=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002182640] |
Chr5:141580857 [GRCh38]
Chr5:140960424 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.9G>C (p.Pro3=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002144518] |
Chr5:141618906 [GRCh38]
Chr5:140998473 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.684+18C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002098314] |
Chr5:141582294 [GRCh38]
Chr5:140961861 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.534-17C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002135928] |
Chr5:141583309 [GRCh38]
Chr5:140962876 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2649G>A (p.Glu883=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002103847] |
Chr5:141529630 [GRCh38]
Chr5:140909197 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2359-16C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002118477] |
Chr5:141572056 [GRCh38]
Chr5:140951623 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.574T>C (p.Leu192=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002158573] |
Chr5:141583252 [GRCh38]
Chr5:140962819 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.180G>A (p.Glu60=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002120711] |
Chr5:141587162 [GRCh38]
Chr5:140966729 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1462-13G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002202582] |
Chr5:141575159 [GRCh38]
Chr5:140954726 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1935G>A (p.Leu645=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002122482] |
Chr5:141573915 [GRCh38]
Chr5:140953482 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.90C>G (p.Gly30=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002175217] |
Chr5:141618825 [GRCh38]
Chr5:140998392 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1458G>A (p.Lys486=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002153922]|not provided [RCV005232894] |
Chr5:141576233 [GRCh38]
Chr5:140955800 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3018+16A>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002203427] |
Chr5:141528686 [GRCh38]
Chr5:140908253 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3274-37TTGGTC[4] |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002202067] |
Chr5:141526480..141526481 [GRCh38]
Chr5:140906047..140906048 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1045-16C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002199898] |
Chr5:141578359 [GRCh38]
Chr5:140957926 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3661+12C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002183337] |
Chr5:141524131 [GRCh38]
Chr5:140903698 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2433T>G (p.Leu811=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002219092] |
Chr5:141571966 [GRCh38]
Chr5:140951533 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-15T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002123452] |
Chr5:141527712 [GRCh38]
Chr5:140907279 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.933+14C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002154855] |
Chr5:141579074 [GRCh38]
Chr5:140958641 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1116T>C (p.Asp372=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002102834] |
Chr5:141578272 [GRCh38]
Chr5:140957839 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.144+8C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002101095] |
Chr5:141588216 [GRCh38]
Chr5:140967783 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3117C>T (p.Asp1039=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002204701] |
Chr5:141528484 [GRCh38]
Chr5:140908051 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.621-9T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002184381] |
Chr5:141582384 [GRCh38]
Chr5:140961951 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.990C>T (p.Phe330=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002161324] |
Chr5:141578569 [GRCh38]
Chr5:140958136 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.620+14A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002182819] |
Chr5:141583192 [GRCh38]
Chr5:140962759 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2779-14G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003110643] |
Chr5:141528955 [GRCh38]
Chr5:140908522 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3168A>G (p.Gln1056=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003110226]|DIAPH1-related disorder [RCV004753658] |
Chr5:141527678 [GRCh38]
Chr5:140907245 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2605A>G (p.Met869Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003111838] |
Chr5:141529674 [GRCh38]
Chr5:140909241 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3478G>C (p.Glu1160Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003112231] |
Chr5:141526134 [GRCh38]
Chr5:140905701 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.144+18A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003118533] |
Chr5:141588206 [GRCh38]
Chr5:140967773 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2053G>A (p.Ala685Thr) |
single nucleotide variant |
not provided [RCV004784528] |
Chr5:141573797 [GRCh38]
Chr5:140953364 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1852C>A (p.Pro618Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003105169] |
Chr5:141573998 [GRCh38]
Chr5:140953565 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3111T>A (p.Phe1037Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005225579]|See cases [RCV002252389] |
Chr5:141528490 [GRCh38]
Chr5:140908057 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.503T>C (p.Leu168Pro) |
single nucleotide variant |
not provided [RCV002276138] |
Chr5:141583515 [GRCh38]
Chr5:140963082 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3464G>A (p.Arg1155Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002573630]|not provided [RCV002474130] |
Chr5:141526148 [GRCh38]
Chr5:140905715 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2036C>G (p.Pro679Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002299931] |
Chr5:141573814 [GRCh38]
Chr5:140953381 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1784T>G (p.Ile595Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002304146] |
Chr5:141574066 [GRCh38]
Chr5:140953633 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1034A>G (p.Gln345Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002295031] |
Chr5:141578525 [GRCh38]
Chr5:140958092 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3659A>G (p.Gln1220Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002296149]|Inborn genetic diseases [RCV003102251] |
Chr5:141524145 [GRCh38]
Chr5:140903712 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2329G>T (p.Val777Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002298017]|Inborn genetic diseases [RCV004973423] |
Chr5:141573521 [GRCh38]
Chr5:140953088 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1369C>T (p.Leu457Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002298250] |
Chr5:141576783 [GRCh38]
Chr5:140956350 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1154T>C (p.Met385Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002304872] |
Chr5:141578234 [GRCh38]
Chr5:140957801 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3001A>G (p.Ile1001Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002295741] |
Chr5:141528719 [GRCh38]
Chr5:140908286 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1000A>C (p.Ile334Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002298354] |
Chr5:141578559 [GRCh38]
Chr5:140958126 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.16G>A (p.Gly6Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002301871] |
Chr5:141618899 [GRCh38]
Chr5:140998466 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3694C>G (p.Leu1232Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002305003] |
Chr5:141516976 [GRCh38]
Chr5:140896543 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1076G>T (p.Arg359Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002303651] |
Chr5:141578312 [GRCh38]
Chr5:140957879 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1802C>G (p.Ala601Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002303861] |
Chr5:141574048 [GRCh38]
Chr5:140953615 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2461G>T (p.Ala821Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003775023]|not provided [RCV002308902] |
Chr5:141571938 [GRCh38]
Chr5:140951505 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3308A>G (p.Lys1103Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002296248] |
Chr5:141526427 [GRCh38]
Chr5:140905994 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2461G>A (p.Ala821Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002299621] |
Chr5:141571938 [GRCh38]
Chr5:140951505 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.6G>C (p.Glu2Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002304409] |
Chr5:141618909 [GRCh38]
Chr5:140998476 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2585T>C (p.Ile862Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002304112] |
Chr5:141529694 [GRCh38]
Chr5:140909261 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2495A>G (p.Gln832Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002298027] |
Chr5:141534421 [GRCh38]
Chr5:140913988 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1841C>T (p.Pro614Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002298957] |
Chr5:141574009 [GRCh38]
Chr5:140953576 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2057G>T (p.Arg686Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002299095] |
Chr5:141573793 [GRCh38]
Chr5:140953360 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1371C>T (p.Leu457=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002838360] |
Chr5:141576781 [GRCh38]
Chr5:140956348 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2702C>T (p.Pro901Leu) |
single nucleotide variant |
not provided [RCV002462489] |
Chr5:141529248 [GRCh38]
Chr5:140908815 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3152C>G (p.Ser1051Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002749746] |
Chr5:141527694 [GRCh38]
Chr5:140907261 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.43C>T (p.Arg15Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003012352] |
Chr5:141618872 [GRCh38]
Chr5:140998439 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2474-20C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002774932] |
Chr5:141571456 [GRCh38]
Chr5:140951023 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3017A>G (p.Lys1006Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002750276] |
Chr5:141528703 [GRCh38]
Chr5:140908270 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3645G>A (p.Lys1215=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002861997] |
Chr5:141524159 [GRCh38]
Chr5:140903726 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1843C>T (p.Pro615Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002750875] |
Chr5:141574007 [GRCh38]
Chr5:140953574 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1861T>G (p.Leu621Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003074462] |
Chr5:141573989 [GRCh38]
Chr5:140953556 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1044+7T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002903613] |
Chr5:141578508 [GRCh38]
Chr5:140958075 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1762T>A (p.Leu588Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003075380] |
Chr5:141574088 [GRCh38]
Chr5:140953655 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.256G>C (p.Asp86His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002967444] |
Chr5:141587086 [GRCh38]
Chr5:140966653 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.621-13C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003013650] |
Chr5:141582388 [GRCh38]
Chr5:140961955 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.258T>C (p.Asp86=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002904821] |
Chr5:141587084 [GRCh38]
Chr5:140966651 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3661+14T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002970915] |
Chr5:141524129 [GRCh38]
Chr5:140903696 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2162C>G (p.Pro721Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003076459] |
Chr5:141573688 [GRCh38]
Chr5:140953255 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1164T>C (p.Asp388=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002975088] |
Chr5:141577591 [GRCh38]
Chr5:140957158 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1756C>T (p.Pro586Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002614591] |
Chr5:141574094 [GRCh38]
Chr5:140953661 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2448C>G (p.Thr816=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003016885] |
Chr5:141571951 [GRCh38]
Chr5:140951518 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2511A>G (p.Glu837=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002843025] |
Chr5:141534405 [GRCh38]
Chr5:140913972 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2439C>T (p.Ala813=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003016917] |
Chr5:141571960 [GRCh38]
Chr5:140951527 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3662-15C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002908590] |
Chr5:141517023 [GRCh38]
Chr5:140896590 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2554T>C (p.Leu852=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003099005] |
Chr5:141534362 [GRCh38]
Chr5:140913929 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2350_2351dup (p.Trp784fs) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003012221] |
Chr5:141573498..141573499 [GRCh38]
Chr5:140953065..140953066 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.3591T>A (p.Gly1197=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002975427] |
Chr5:141524213 [GRCh38]
Chr5:140903780 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1836_1837insTCTCCT (p.Pro612_Pro613insSerPro) |
insertion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002861888] |
Chr5:141574013..141574014 [GRCh38]
Chr5:140953580..140953581 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2915G>A (p.Ser972Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002618027] |
Chr5:141528805 [GRCh38]
Chr5:140908372 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.761A>G (p.Asn254Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002996830] |
Chr5:141580807 [GRCh38]
Chr5:140960374 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2243C>T (p.Pro748Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002685830] |
Chr5:141573607 [GRCh38]
Chr5:140953174 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2306C>G (p.Pro769Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003016912] |
Chr5:141573544 [GRCh38]
Chr5:140953111 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1265A>T (p.Asn422Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003034128] |
Chr5:141577490 [GRCh38]
Chr5:140957057 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.145-20T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003032374] |
Chr5:141587217 [GRCh38]
Chr5:140966784 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.809C>T (p.Pro270Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002971400]|not provided [RCV004765609] |
Chr5:141580759 [GRCh38]
Chr5:140960326 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.120T>A (p.Thr40=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002816210] |
Chr5:141588248 [GRCh38]
Chr5:140967815 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1494A>G (p.Leu498=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002881976] |
Chr5:141575114 [GRCh38]
Chr5:140954681 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2367T>G (p.Ala789=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002863016] |
Chr5:141572032 [GRCh38]
Chr5:140951599 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.242C>A (p.Ala81Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002681626] |
Chr5:141587100 [GRCh38]
Chr5:140966667 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2949T>A (p.Val983=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002681643] |
Chr5:141528771 [GRCh38]
Chr5:140908338 [GRCh37]
Chr5:5q31.3 |
likely benign|uncertain significance |
| NM_005219.5(DIAPH1):c.2809C>T (p.Leu937Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002842359] |
Chr5:141528911 [GRCh38]
Chr5:140908478 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2333A>C (p.Gln778Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002616656] |
Chr5:141573517 [GRCh38]
Chr5:140953084 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3274-7G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002863671] |
Chr5:141526468 [GRCh38]
Chr5:140906035 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1617A>G (p.Ala539=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002863488] |
Chr5:141574991 [GRCh38]
Chr5:140954558 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.145-17T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002755071] |
Chr5:141587214 [GRCh38]
Chr5:140966781 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.118-18C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002994165] |
Chr5:141588268 [GRCh38]
Chr5:140967835 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.117+9C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002751325] |
Chr5:141618789 [GRCh38]
Chr5:140998356 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2677-11C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003033888] |
Chr5:141529284 [GRCh38]
Chr5:140908851 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2374C>A (p.Leu792Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002819260] |
Chr5:141572025 [GRCh38]
Chr5:140951592 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.915A>G (p.Gly305=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003012411] |
Chr5:141579106 [GRCh38]
Chr5:140958673 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3662-3C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002756407] |
Chr5:141517011 [GRCh38]
Chr5:140896578 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1849C>T (p.Pro617Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002839545]|Inborn genetic diseases [RCV002846445] |
Chr5:141574001 [GRCh38]
Chr5:140953568 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3247A>G (p.Lys1083Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002838790] |
Chr5:141527599 [GRCh38]
Chr5:140907166 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.501C>T (p.Ser167=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002690280] |
Chr5:141583517 [GRCh38]
Chr5:140963084 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1368C>T (p.His456=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003016797] |
Chr5:141576784 [GRCh38]
Chr5:140956351 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.144+20C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002774794] |
Chr5:141588204 [GRCh38]
Chr5:140967771 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3182A>C (p.Gln1061Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002819509] |
Chr5:141527664 [GRCh38]
Chr5:140907231 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2582-18T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003038249] |
Chr5:141529715 [GRCh38]
Chr5:140909282 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3032A>C (p.Lys1011Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002927860] |
Chr5:141528569 [GRCh38]
Chr5:140908136 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1021T>C (p.Leu341=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003021831] |
Chr5:141578538 [GRCh38]
Chr5:140958105 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2454C>T (p.Thr818=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003081684] |
Chr5:141571945 [GRCh38]
Chr5:140951512 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2075C>G (p.Pro692Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003021495] |
Chr5:141573775 [GRCh38]
Chr5:140953342 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1164-4C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002847875] |
Chr5:141577595 [GRCh38]
Chr5:140957162 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3223A>C (p.Asn1075His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002696325] |
Chr5:141527623 [GRCh38]
Chr5:140907190 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1826C>T (p.Pro609Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003077682]|not provided [RCV003143468] |
Chr5:141574024 [GRCh38]
Chr5:140953591 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.621-6A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002708193] |
Chr5:141582381 [GRCh38]
Chr5:140961948 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1567C>T (p.Leu523=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002825078] |
Chr5:141575041 [GRCh38]
Chr5:140954608 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3574+15C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003039449] |
Chr5:141526023 [GRCh38]
Chr5:140905590 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3140C>T (p.Ala1047Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003000009] |
Chr5:141528461 [GRCh38]
Chr5:140908028 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.47A>G (p.Asp16Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003003079] |
Chr5:141618868 [GRCh38]
Chr5:140998435 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.228G>A (p.Gly76=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002695926] |
Chr5:141587114 [GRCh38]
Chr5:140966681 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2175A>G (p.Gly725=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002797014] |
Chr5:141573675 [GRCh38]
Chr5:140953242 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3574+8G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002912945] |
Chr5:141526030 [GRCh38]
Chr5:140905597 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1856C>T (p.Pro619Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003771994]|not provided [RCV001756815] |
Chr5:141573994 [GRCh38]
Chr5:140953561 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1258G>A (p.Val420Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001915563]|DIAPH1-related disorder [RCV003416572] |
Chr5:141577497 [GRCh38]
Chr5:140957064 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1068A>G (p.Glu356=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002022027] |
Chr5:141578320 [GRCh38]
Chr5:140957887 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.352A>G (p.Ile118Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001946008] |
Chr5:141584174 [GRCh38]
Chr5:140963741 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1927C>T (p.Pro643Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001953303] |
Chr5:141573923 [GRCh38]
Chr5:140953490 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.280G>C (p.Val94Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV001954639]|Inborn genetic diseases [RCV002560413] |
Chr5:141587062 [GRCh38]
Chr5:140966629 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.224A>G (p.Tyr75Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002049721] |
Chr5:141587118 [GRCh38]
Chr5:140966685 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3274-5T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002110082] |
Chr5:141526466 [GRCh38]
Chr5:140906033 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1806T>G (p.Pro602=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002174169] |
Chr5:141574044 [GRCh38]
Chr5:140953611 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2994C>T (p.Gly998=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002185160] |
Chr5:141528726 [GRCh38]
Chr5:140908293 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1350T>C (p.Pro450=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002155780] |
Chr5:141576802 [GRCh38]
Chr5:140956369 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1590T>C (p.Ile530=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002181577] |
Chr5:141575018 [GRCh38]
Chr5:140954585 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.243A>C (p.Ala81=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002083707] |
Chr5:141587099 [GRCh38]
Chr5:140966666 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.684+3G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002881758] |
Chr5:141582309 [GRCh38]
Chr5:140961876 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3655dup (p.Arg1219fs) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002880613] |
Chr5:141524148..141524149 [GRCh38]
Chr5:140903715..140903716 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1927C>G (p.Pro643Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003777915]|Inborn genetic diseases [RCV002905303]|not provided [RCV004593190]|not specified [RCV003226572] |
Chr5:141573923 [GRCh38]
Chr5:140953490 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3575-9T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002861995] |
Chr5:141524238 [GRCh38]
Chr5:140903805 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3661+13A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002847690] |
Chr5:141524130 [GRCh38]
Chr5:140903697 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1962C>G (p.Pro654=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002706146] |
Chr5:141573888 [GRCh38]
Chr5:140953455 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3084G>A (p.Glu1028=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003018688] |
Chr5:141528517 [GRCh38]
Chr5:140908084 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2473+3G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002705600] |
Chr5:141571923 [GRCh38]
Chr5:140951490 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1894T>C (p.Ser632Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002591347] |
Chr5:141573956 [GRCh38]
Chr5:140953523 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1830T>C (p.Pro610=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002867407] |
Chr5:141574020 [GRCh38]
Chr5:140953587 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.685-5A>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002979389] |
Chr5:141580888 [GRCh38]
Chr5:140960455 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2132C>T (p.Ala711Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002591392] |
Chr5:141573718 [GRCh38]
Chr5:140953285 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1268A>C (p.Asp423Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002843932] |
Chr5:141577487 [GRCh38]
Chr5:140957054 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1637G>A (p.Gly546Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002736541] |
Chr5:141574971 [GRCh38]
Chr5:140954538 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2507A>G (p.Glu836Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003036447] |
Chr5:141534409 [GRCh38]
Chr5:140913976 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2460T>G (p.Ser820=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002866705] |
Chr5:141571939 [GRCh38]
Chr5:140951506 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2808C>A (p.Arg936=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002690804]|DIAPH1-related disorder [RCV004753576] |
Chr5:141528912 [GRCh38]
Chr5:140908479 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3146G>A (p.Arg1049Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002658994] |
Chr5:141528455 [GRCh38]
Chr5:140908022 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1639G>A (p.Glu547Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002796409] |
Chr5:141574969 [GRCh38]
Chr5:140954536 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2483-10del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002619645] |
Chr5:141534443 [GRCh38]
Chr5:140914010 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.3466C>T (p.Arg1156Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003078201] |
Chr5:141526146 [GRCh38]
Chr5:140905713 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2359-5C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002662334] |
Chr5:141572045 [GRCh38]
Chr5:140951612 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3704C>T (p.Ser1235Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005209591]|Inborn genetic diseases [RCV002978118] |
Chr5:141516966 [GRCh38]
Chr5:140896533 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2106C>A (p.Pro702=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002619425] |
Chr5:141573744 [GRCh38]
Chr5:140953311 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2552T>C (p.Val851Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002735083] |
Chr5:141534364 [GRCh38]
Chr5:140913931 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3676G>A (p.Gly1226Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002637657] |
Chr5:141516994 [GRCh38]
Chr5:140896561 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.621-10C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003080885] |
Chr5:141582385 [GRCh38]
Chr5:140961952 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2358+20_2358+23del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002927361] |
Chr5:141573469..141573472 [GRCh38]
Chr5:140953036..140953039 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3576G>A (p.Glu1192=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002866608] |
Chr5:141524228 [GRCh38]
Chr5:140903795 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1891C>A (p.Pro631Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002662467] |
Chr5:141573959 [GRCh38]
Chr5:140953526 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3063C>T (p.His1021=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002927574] |
Chr5:141528538 [GRCh38]
Chr5:140908105 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.96C>T (p.Asp32=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002885178] |
Chr5:141618819 [GRCh38]
Chr5:140998386 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.933+3A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003035276] |
Chr5:141579085 [GRCh38]
Chr5:140958652 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1768G>A (p.Gly590Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002795135] |
Chr5:141574082 [GRCh38]
Chr5:140953649 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1805C>T (p.Pro602Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002705906] |
Chr5:141574045 [GRCh38]
Chr5:140953612 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2965G>A (p.Ala989Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003079815]|Inborn genetic diseases [RCV004978569] |
Chr5:141528755 [GRCh38]
Chr5:140908322 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.30C>T (p.Pro10=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002791533] |
Chr5:141618885 [GRCh38]
Chr5:140998452 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.685-15T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002932247] |
Chr5:141580898 [GRCh38]
Chr5:140960465 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1163+14dup |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002851451] |
Chr5:141578210..141578211 [GRCh38]
Chr5:140957777..140957778 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2488A>G (p.Lys830Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002958992] |
Chr5:141534428 [GRCh38]
Chr5:140913995 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1230C>A (p.Phe410Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003042581] |
Chr5:141577525 [GRCh38]
Chr5:140957092 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3351G>A (p.Glu1117=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002876286] |
Chr5:141526384 [GRCh38]
Chr5:140905951 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3575-14G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002894635] |
Chr5:141524243 [GRCh38]
Chr5:140903810 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2103C>A (p.Pro701=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002929185] |
Chr5:141573747 [GRCh38]
Chr5:140953314 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1967C>T (p.Pro656Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003024617] |
Chr5:141573883 [GRCh38]
Chr5:140953450 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1439A>C (p.Lys480Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002595897] |
Chr5:141576252 [GRCh38]
Chr5:140955819 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.193A>G (p.Asn65Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003026036] |
Chr5:141587149 [GRCh38]
Chr5:140966716 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1096G>C (p.Asp366His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003005088] |
Chr5:141578292 [GRCh38]
Chr5:140957859 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1386G>A (p.Glu462=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002574412] |
Chr5:141576766 [GRCh38]
Chr5:140956333 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2944C>G (p.Leu982Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003039921] |
Chr5:141528776 [GRCh38]
Chr5:140908343 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.301-13C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002872286] |
Chr5:141584238 [GRCh38]
Chr5:140963805 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1779C>T (p.Gly593=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002890804] |
Chr5:141574071 [GRCh38]
Chr5:140953638 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1744G>A (p.Val582Ile) |
single nucleotide variant |
not provided [RCV002508585] |
Chr5:141574106 [GRCh38]
Chr5:140953673 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2682C>T (p.Leu894=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002917548] |
Chr5:141529268 [GRCh38]
Chr5:140908835 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2178C>T (p.Ile726=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002828581] |
Chr5:141573672 [GRCh38]
Chr5:140953239 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.402+20C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002928975] |
Chr5:141584104 [GRCh38]
Chr5:140963671 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1496A>G (p.Gln499Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002700251] |
Chr5:141575112 [GRCh38]
Chr5:140954679 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3438+14A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002957517] |
Chr5:141526283 [GRCh38]
Chr5:140905850 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1787T>C (p.Ile596Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002851681] |
Chr5:141574063 [GRCh38]
Chr5:140953630 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2676+2T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002852123] |
Chr5:141529601 [GRCh38]
Chr5:140909168 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.2663A>C (p.Glu888Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002743703] |
Chr5:141529616 [GRCh38]
Chr5:140909183 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2030C>G (p.Pro677Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002625159] |
Chr5:141573820 [GRCh38]
Chr5:140953387 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2605A>C (p.Met869Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003059519] |
Chr5:141529674 [GRCh38]
Chr5:140909241 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.846A>G (p.Ala282=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003082474] |
Chr5:141579175 [GRCh38]
Chr5:140958742 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.86C>T (p.Ala29Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002851080] |
Chr5:141618829 [GRCh38]
Chr5:140998396 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1737T>G (p.Arg579=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002766023] |
Chr5:141574113 [GRCh38]
Chr5:140953680 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1051C>T (p.Arg351Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002800792]|not provided [RCV004725379] |
Chr5:141578337 [GRCh38]
Chr5:140957904 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.1641+14A>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002710105] |
Chr5:141574953 [GRCh38]
Chr5:140954520 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1936_1971del (p.Ser646_Leu657del) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002626931] |
Chr5:141573879..141573914 [GRCh38]
Chr5:140953446..140953481 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1130A>G (p.Lys377Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002625848] |
Chr5:141578258 [GRCh38]
Chr5:140957825 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.100G>A (p.Gly34Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002790318] |
Chr5:141618815 [GRCh38]
Chr5:140998382 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3274-23_3274-18dup |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003084965] |
Chr5:141526478..141526479 [GRCh38]
Chr5:140906045..140906046 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3094C>A (p.Pro1032Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002791273] |
Chr5:141528507 [GRCh38]
Chr5:140908074 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1569G>A (p.Leu523=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002875890] |
Chr5:141575039 [GRCh38]
Chr5:140954606 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.428A>G (p.Lys143Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002953997] |
Chr5:141583590 [GRCh38]
Chr5:140963157 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.253C>G (p.Gln85Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002643026] |
Chr5:141587089 [GRCh38]
Chr5:140966656 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3273+5C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003042574] |
Chr5:141527568 [GRCh38]
Chr5:140907135 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.978G>A (p.Glu326=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002894073] |
Chr5:141578581 [GRCh38]
Chr5:140958148 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3015T>C (p.Cys1005=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002931979] |
Chr5:141528705 [GRCh38]
Chr5:140908272 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.60C>G (p.Gly20=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002741302] |
Chr5:141618855 [GRCh38]
Chr5:140998422 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1397-22_1397-19del |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003042285] |
Chr5:141576313..141576316 [GRCh38]
Chr5:140955880..140955883 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3148+20A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002958109] |
Chr5:141528433 [GRCh38]
Chr5:140908000 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3594G>A (p.Val1198=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002710633] |
Chr5:141524210 [GRCh38]
Chr5:140903777 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1727T>C (p.Val576Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002624822] |
Chr5:141574123 [GRCh38]
Chr5:140953690 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1871G>A (p.Gly624Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002644397] |
Chr5:141573979 [GRCh38]
Chr5:140953546 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3660A>G (p.Gln1220=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002917423] |
Chr5:141524144 [GRCh38]
Chr5:140903711 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2779-6T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002646448] |
Chr5:141528947 [GRCh38]
Chr5:140908514 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3818A>C (p.Ter1273Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002651263] |
Chr5:141516852 [GRCh38]
Chr5:140896419 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.301-11C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003061913] |
Chr5:141584236 [GRCh38]
Chr5:140963803 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2144C>G (p.Pro715Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002720941] |
Chr5:141573706 [GRCh38]
Chr5:140953273 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3662-16T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002967195] |
Chr5:141517024 [GRCh38]
Chr5:140896591 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2017A>G (p.Thr673Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003065294] |
Chr5:141573833 [GRCh38]
Chr5:140953400 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.403-11C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003064980] |
Chr5:141583626 [GRCh38]
Chr5:140963193 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.757C>T (p.Pro253Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002833187] |
Chr5:141580811 [GRCh38]
Chr5:140960378 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1483C>T (p.Arg495Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002671343] |
Chr5:141575125 [GRCh38]
Chr5:140954692 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.2928C>G (p.Leu976=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002628850] |
Chr5:141528792 [GRCh38]
Chr5:140908359 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.140A>T (p.Asp47Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003049294] |
Chr5:141588228 [GRCh38]
Chr5:140967795 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3693T>C (p.Ser1231=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003048472] |
Chr5:141516977 [GRCh38]
Chr5:140896544 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3211_3212insAT (p.Arg1071fs) |
insertion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003028508] |
Chr5:141527634..141527635 [GRCh38]
Chr5:140907201..140907202 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.1859_1860insCCCTCC (p.Pro620_Leu621insProPro) |
insertion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002806442] |
Chr5:141573990..141573991 [GRCh38]
Chr5:140953557..140953558 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.233A>G (p.Asp78Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003046922] |
Chr5:141587109 [GRCh38]
Chr5:140966676 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.117+20C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003065606] |
Chr5:141618778 [GRCh38]
Chr5:140998345 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1283C>A (p.Pro428His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002629606] |
Chr5:141576869 [GRCh38]
Chr5:140956436 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.36C>T (p.Arg12=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002629949] |
Chr5:141618879 [GRCh38]
Chr5:140998446 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3019-11C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002899651] |
Chr5:141528593 [GRCh38]
Chr5:140908160 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.927A>T (p.Ala309=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003027821] |
Chr5:141579094 [GRCh38]
Chr5:140958661 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.717A>G (p.Glu239=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003027828] |
Chr5:141580851 [GRCh38]
Chr5:140960418 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2751G>T (p.Leu917=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002807098] |
Chr5:141529199 [GRCh38]
Chr5:140908766 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1724C>T (p.Ser575Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002855979] |
Chr5:141574126 [GRCh38]
Chr5:140953693 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2584A>G (p.Ile862Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002895913] |
Chr5:141529695 [GRCh38]
Chr5:140909262 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3149-15_3149-14insG |
insertion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002628335] |
Chr5:141527711..141527712 [GRCh38]
Chr5:140907278..140907279 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.892C>T (p.Leu298=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002807157] |
Chr5:141579129 [GRCh38]
Chr5:140958696 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2939C>T (p.Thr980Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002578723]|not provided [RCV004790221] |
Chr5:141528781 [GRCh38]
Chr5:140908348 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3651G>A (p.Gly1217=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003010234] |
Chr5:141524153 [GRCh38]
Chr5:140903720 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1319A>G (p.Gln440Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002922027] |
Chr5:141576833 [GRCh38]
Chr5:140956400 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1737T>C (p.Arg579=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002835021] |
Chr5:141574113 [GRCh38]
Chr5:140953680 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.41C>T (p.Thr14Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215950]|Inborn genetic diseases [RCV002878725] |
Chr5:141618874 [GRCh38]
Chr5:140998441 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2106C>T (p.Pro702=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002900537] |
Chr5:141573744 [GRCh38]
Chr5:140953311 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1044+9T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002627979] |
Chr5:141578506 [GRCh38]
Chr5:140958073 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3818A>G (p.Ter1273=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003009911] |
Chr5:141516852 [GRCh38]
Chr5:140896419 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3574+15C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002600136] |
Chr5:141526023 [GRCh38]
Chr5:140905590 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1676A>G (p.Lys559Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003046147] |
Chr5:141574174 [GRCh38]
Chr5:140953741 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.693C>T (p.Ile231=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002877554] |
Chr5:141580875 [GRCh38]
Chr5:140960442 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2799G>A (p.Leu933=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002856263] |
Chr5:141528921 [GRCh38]
Chr5:140908488 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.726A>G (p.Leu242=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002811376] |
Chr5:141580842 [GRCh38]
Chr5:140960409 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3231A>C (p.Pro1077=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002937409] |
Chr5:141527615 [GRCh38]
Chr5:140907182 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3439C>G (p.Gln1147Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002810864] |
Chr5:141526173 [GRCh38]
Chr5:140905740 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2718G>T (p.Met906Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002669537] |
Chr5:141529232 [GRCh38]
Chr5:140908799 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1292A>G (p.Tyr431Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003030233] |
Chr5:141576860 [GRCh38]
Chr5:140956427 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2064C>A (p.Pro688=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002895736] |
Chr5:141573786 [GRCh38]
Chr5:140953353 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.21C>G (p.Ser7Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003777968]|Inborn genetic diseases [RCV002935912] |
Chr5:141618894 [GRCh38]
Chr5:140998461 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2582-11T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002629310] |
Chr5:141529708 [GRCh38]
Chr5:140909275 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.933+7A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002806578] |
Chr5:141579081 [GRCh38]
Chr5:140958648 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1513A>T (p.Met505Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002577477] |
Chr5:141575095 [GRCh38]
Chr5:140954662 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2719C>T (p.Leu907Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002669538] |
Chr5:141529231 [GRCh38]
Chr5:140908798 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3019-11_3019-10del |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003009912] |
Chr5:141528592..141528593 [GRCh38]
Chr5:140908159..140908160 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1173T>C (p.Asn391=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003028008] |
Chr5:141577582 [GRCh38]
Chr5:140957149 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1846C>T (p.Pro616Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002937836] |
Chr5:141574004 [GRCh38]
Chr5:140953571 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3211C>T (p.Arg1071Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002647562] |
Chr5:141527635 [GRCh38]
Chr5:140907202 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1341G>A (p.Gly447=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002810204] |
Chr5:141576811 [GRCh38]
Chr5:140956378 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.743T>C (p.Met248Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003031421] |
Chr5:141580825 [GRCh38]
Chr5:140960392 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1634C>T (p.Thr545Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002676437] |
Chr5:141574974 [GRCh38]
Chr5:140954541 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2182C>T (p.Pro728Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002856552] |
Chr5:141573668 [GRCh38]
Chr5:140953235 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2967T>C (p.Ala989=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002876981] |
Chr5:141528753 [GRCh38]
Chr5:140908320 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2978A>G (p.Asn993Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003026818] |
Chr5:141528742 [GRCh38]
Chr5:140908309 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2221C>T (p.Pro741Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002599576] |
Chr5:141573629 [GRCh38]
Chr5:140953196 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2459C>T (p.Ser820Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002603365] |
Chr5:141571940 [GRCh38]
Chr5:140951507 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2092G>A (p.Ala698Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002634138] |
Chr5:141573758 [GRCh38]
Chr5:140953325 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.646G>A (p.Glu216Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003051624] |
Chr5:141582350 [GRCh38]
Chr5:140961917 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1955C>T (p.Pro652Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002725454] |
Chr5:141573895 [GRCh38]
Chr5:140953462 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1630C>T (p.Leu544Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002635310] |
Chr5:141574978 [GRCh38]
Chr5:140954545 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2779-11T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003067046] |
Chr5:141528952 [GRCh38]
Chr5:140908519 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1150C>T (p.Arg384Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002583735] |
Chr5:141578238 [GRCh38]
Chr5:140957805 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3078G>C (p.Leu1026Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002584834]|not provided [RCV004725534] |
Chr5:141528523 [GRCh38]
Chr5:140908090 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3559A>G (p.Ile1187Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003069365] |
Chr5:141526053 [GRCh38]
Chr5:140905620 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.49AAG[2] (p.Lys19del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002814746] |
Chr5:141618858..141618860 [GRCh38]
Chr5:140998425..140998427 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3205G>A (p.Val1069Met) |
single nucleotide variant |
not provided [RCV003129398] |
Chr5:141527641 [GRCh38]
Chr5:140907208 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.626dup (p.Tyr209Ter) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002634595] |
Chr5:141582369..141582370 [GRCh38]
Chr5:140961936..140961937 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.423C>T (p.Ser141=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002943544] |
Chr5:141583595 [GRCh38]
Chr5:140963162 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2145TCC[2] (p.Pro719del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002942871] |
Chr5:141573697..141573699 [GRCh38]
Chr5:140953264..140953266 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1908T>C (p.Gly636=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002653468] |
Chr5:141573942 [GRCh38]
Chr5:140953509 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.933+20C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002814440] |
Chr5:141579068 [GRCh38]
Chr5:140958635 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2560T>G (p.Ser854Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002585069] |
Chr5:141534356 [GRCh38]
Chr5:140913923 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1476A>T (p.Leu492Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003052535] |
Chr5:141575132 [GRCh38]
Chr5:140954699 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3491G>A (p.Arg1164Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002721767]|not provided [RCV003443072] |
Chr5:141526121 [GRCh38]
Chr5:140905688 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3138A>G (p.Lys1046=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002606780] |
Chr5:141528463 [GRCh38]
Chr5:140908030 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2757G>A (p.Glu919=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002634390] |
Chr5:141529193 [GRCh38]
Chr5:140908760 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2483-14C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002634402] |
Chr5:141534447 [GRCh38]
Chr5:140914014 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-13_3149-3del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003073497] |
Chr5:141527700..141527710 [GRCh38]
Chr5:140907267..140907277 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1838C>T (p.Pro613Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002585211] |
Chr5:141574012 [GRCh38]
Chr5:140953579 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3438+8dup |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002589193] |
Chr5:141526288..141526289 [GRCh38]
Chr5:140905855..140905856 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3575-13T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003072420] |
Chr5:141524242 [GRCh38]
Chr5:140903809 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1397-9T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003093336] |
Chr5:141576303 [GRCh38]
Chr5:140955870 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1838C>G (p.Pro613Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002943402] |
Chr5:141574012 [GRCh38]
Chr5:140953579 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1600A>G (p.Lys534Glu) |
single nucleotide variant |
not provided [RCV004778295] |
Chr5:141575008 [GRCh38]
Chr5:140954575 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1512G>C (p.Lys504Asn) |
single nucleotide variant |
not provided [RCV003146082] |
Chr5:141575096 [GRCh38]
Chr5:140954663 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.92G>C (p.Gly31Ala) |
single nucleotide variant |
not provided [RCV003146085] |
Chr5:141618823 [GRCh38]
Chr5:140998390 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2294T>A (p.Phe765Tyr) |
single nucleotide variant |
not provided [RCV003225456] |
Chr5:141573556 [GRCh38]
Chr5:140953123 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2303C>T (p.Thr768Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003777321]|not provided [RCV003321388] |
Chr5:141573547 [GRCh38]
Chr5:140953114 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2236G>A (p.Gly746Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003357911] |
Chr5:141573614 [GRCh38]
Chr5:140953181 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2780T>C (p.Met927Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003778051]|Inborn genetic diseases [RCV003362443] |
Chr5:141528940 [GRCh38]
Chr5:140908507 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1627C>G (p.Gln543Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003386383] |
Chr5:141574981 [GRCh38]
Chr5:140954548 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3775A>G (p.Thr1259Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003792018] |
Chr5:141516895 [GRCh38]
Chr5:140896462 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2241G>A (p.Met747Ile) |
single nucleotide variant |
DIAPH1-related disorder [RCV003391627] |
Chr5:141573609 [GRCh38]
Chr5:140953176 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2474-16C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003791659] |
Chr5:141571452 [GRCh38]
Chr5:140951019 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3148+17T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003790899] |
Chr5:141528436 [GRCh38]
Chr5:140908003 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1511del (p.Lys504fs) |
deletion |
DIAPH1-related disorder [RCV003404593] |
Chr5:141575097 [GRCh38]
Chr5:140954664 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.1901C>T (p.Pro634Leu) |
single nucleotide variant |
DIAPH1-related disorder [RCV003412265] |
Chr5:141573949 [GRCh38]
Chr5:140953516 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3447C>G (p.Val1149=) |
single nucleotide variant |
not provided [RCV003429859] |
Chr5:141526165 [GRCh38]
Chr5:140905732 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.12C>T (p.Pro4=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003778432]|not provided [RCV003429860] |
Chr5:141618903 [GRCh38]
Chr5:140998470 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2143C>G (p.Pro715Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005228030]|DIAPH1-related disorder [RCV003417016] |
Chr5:141573707 [GRCh38]
Chr5:140953274 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1420G>A (p.Val474Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003795009]|Inborn genetic diseases [RCV004981034] |
Chr5:141576271 [GRCh38]
Chr5:140955838 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2456T>C (p.Phe819Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003807622] |
Chr5:141571943 [GRCh38]
Chr5:140951510 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2034_2072del (p.Arg686_Ala698del) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003797401] |
Chr5:141573778..141573816 [GRCh38]
Chr5:140953345..140953383 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2482+17G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003794738] |
Chr5:141571411 [GRCh38]
Chr5:140950978 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3321G>C (p.Met1107Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003789789] |
Chr5:141526414 [GRCh38]
Chr5:140905981 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1211C>T (p.Ser404Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003792333] |
Chr5:141577544 [GRCh38]
Chr5:140957111 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3369C>T (p.Leu1123=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003794823] |
Chr5:141526366 [GRCh38]
Chr5:140905933 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-15_3149-3dup |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003797331] |
Chr5:141527699..141527700 [GRCh38]
Chr5:140907266..140907267 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.117+12_117+15del |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003782083] |
Chr5:141618783..141618786 [GRCh38]
Chr5:140998350..140998353 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2007G>A (p.Leu669=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003793681] |
Chr5:141573843 [GRCh38]
Chr5:140953410 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.621-15G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003797478] |
Chr5:141582390 [GRCh38]
Chr5:140961957 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1461+6T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003797483] |
Chr5:141576224 [GRCh38]
Chr5:140955791 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1677G>T (p.Lys559Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003797731] |
Chr5:141574173 [GRCh38]
Chr5:140953740 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2608C>A (p.Pro870Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003790787] |
Chr5:141529671 [GRCh38]
Chr5:140909238 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2612A>T (p.Tyr871Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003805305] |
Chr5:141529667 [GRCh38]
Chr5:140909234 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2606T>C (p.Met869Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003794018] |
Chr5:141529673 [GRCh38]
Chr5:140909240 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1348C>G (p.Pro450Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003797353] |
Chr5:141576804 [GRCh38]
Chr5:140956371 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2233A>G (p.Met745Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003782370] |
Chr5:141573617 [GRCh38]
Chr5:140953184 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3507G>C (p.Lys1169Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003807602] |
Chr5:141526105 [GRCh38]
Chr5:140905672 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3304A>G (p.Asn1102Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003797396] |
Chr5:141526431 [GRCh38]
Chr5:140905998 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.300+16C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003796453] |
Chr5:141587026 [GRCh38]
Chr5:140966593 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1539T>G (p.Leu513=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003795575] |
Chr5:141575069 [GRCh38]
Chr5:140954636 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3799T>C (p.Leu1267=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003792973] |
Chr5:141516871 [GRCh38]
Chr5:140896438 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.48C>G (p.Asp16Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003807727] |
Chr5:141618867 [GRCh38]
Chr5:140998434 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1311T>C (p.Cys437=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003791668] |
Chr5:141576841 [GRCh38]
Chr5:140956408 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2216C>T (p.Pro739Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003807981] |
Chr5:141573634 [GRCh38]
Chr5:140953201 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1164-9C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003789089] |
Chr5:141577600 [GRCh38]
Chr5:140957167 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.255A>G (p.Gln85=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003782890] |
Chr5:141587087 [GRCh38]
Chr5:140966654 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1742C>G (p.Pro581Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003797116] |
Chr5:141574108 [GRCh38]
Chr5:140953675 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.145-20T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003791974] |
Chr5:141587217 [GRCh38]
Chr5:140966784 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.343G>C (p.Glu115Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003806178] |
Chr5:141584183 [GRCh38]
Chr5:140963750 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3183G>C (p.Gln1061His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003797671] |
Chr5:141527663 [GRCh38]
Chr5:140907230 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.685-7C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003785486] |
Chr5:141580890 [GRCh38]
Chr5:140960457 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.824+15T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003786526] |
Chr5:141580729 [GRCh38]
Chr5:140960296 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.736A>G (p.Arg246Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003797563]|DIAPH1-related disorder [RCV003981130] |
Chr5:141580832 [GRCh38]
Chr5:140960399 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1396+7A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003793488] |
Chr5:141576749 [GRCh38]
Chr5:140956316 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2705A>G (p.Glu902Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003797571] |
Chr5:141529245 [GRCh38]
Chr5:140908812 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.300+13T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003804456] |
Chr5:141587029 [GRCh38]
Chr5:140966596 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.62G>A (p.Arg21Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003781869] |
Chr5:141618853 [GRCh38]
Chr5:140998420 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.757C>G (p.Pro253Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003793666] |
Chr5:141580811 [GRCh38]
Chr5:140960378 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2778+2dup |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003804527] |
Chr5:141529169..141529170 [GRCh38]
Chr5:140908736..140908737 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2609C>T (p.Pro870Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003794385] |
Chr5:141529670 [GRCh38]
Chr5:140909237 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2003C>T (p.Ser668Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003795002]|Inborn genetic diseases [RCV004614527] |
Chr5:141573847 [GRCh38]
Chr5:140953414 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1191C>G (p.Leu397=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003789005] |
Chr5:141577564 [GRCh38]
Chr5:140957131 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.684+1G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003790985] |
Chr5:141582311 [GRCh38]
Chr5:140961878 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.1018C>G (p.Arg340Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003791025] |
Chr5:141578541 [GRCh38]
Chr5:140958108 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.740C>G (p.Ala247Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003792208] |
Chr5:141580828 [GRCh38]
Chr5:140960395 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.300+17C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003782692] |
Chr5:141587025 [GRCh38]
Chr5:140966592 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.434C>A (p.Ala145Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003805300] |
Chr5:141583584 [GRCh38]
Chr5:140963151 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1642-19A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003784049] |
Chr5:141574227 [GRCh38]
Chr5:140953794 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1051C>A (p.Arg351=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003787557] |
Chr5:141578337 [GRCh38]
Chr5:140957904 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2068C>T (p.Pro690Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003791246] |
Chr5:141573782 [GRCh38]
Chr5:140953349 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1123G>T (p.Asp375Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003792270] |
Chr5:141578265 [GRCh38]
Chr5:140957832 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2676+13G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003804089] |
Chr5:141529590 [GRCh38]
Chr5:140909157 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.117+18C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003795083] |
Chr5:141618780 [GRCh38]
Chr5:140998347 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.69A>C (p.Pro23=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003784807] |
Chr5:141618846 [GRCh38]
Chr5:140998413 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-18T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003795288] |
Chr5:141527715 [GRCh38]
Chr5:140907282 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.918C>T (p.Thr306=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003790373] |
Chr5:141579103 [GRCh38]
Chr5:140958670 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3018+11G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003793116] |
Chr5:141528691 [GRCh38]
Chr5:140908258 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1044+6A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003804691] |
Chr5:141578509 [GRCh38]
Chr5:140958076 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3231A>G (p.Pro1077=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003795189] |
Chr5:141527615 [GRCh38]
Chr5:140907182 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2186C>T (p.Pro729Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003805416] |
Chr5:141573664 [GRCh38]
Chr5:140953231 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1517A>T (p.Glu506Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003806683] |
Chr5:141575091 [GRCh38]
Chr5:140954658 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.741C>G (p.Ala247=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003782169] |
Chr5:141580827 [GRCh38]
Chr5:140960394 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3148+6G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003805481] |
Chr5:141528447 [GRCh38]
Chr5:140908014 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1417A>G (p.Lys473Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003784962] |
Chr5:141576274 [GRCh38]
Chr5:140955841 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1881C>T (p.Ile627=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003791528] |
Chr5:141573969 [GRCh38]
Chr5:140953536 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1396+11T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003796737] |
Chr5:141576745 [GRCh38]
Chr5:140956312 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.402+19A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003784370] |
Chr5:141584105 [GRCh38]
Chr5:140963672 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.145-14T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003787156] |
Chr5:141587211 [GRCh38]
Chr5:140966778 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.117+19C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003790061] |
Chr5:141618779 [GRCh38]
Chr5:140998346 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2701C>G (p.Pro901Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003785906] |
Chr5:141529249 [GRCh38]
Chr5:140908816 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.599A>T (p.Asp200Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003788641] |
Chr5:141583227 [GRCh38]
Chr5:140962794 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.395C>A (p.Ser132Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003780153] |
Chr5:141584131 [GRCh38]
Chr5:140963698 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3274-18T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003796603] |
Chr5:141526479 [GRCh38]
Chr5:140906046 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2543A>G (p.Glu848Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003782515] |
Chr5:141534373 [GRCh38]
Chr5:140913940 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.317A>G (p.Asn106Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003795586] |
Chr5:141584209 [GRCh38]
Chr5:140963776 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.301-15_301-14del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003796642] |
Chr5:141584239..141584240 [GRCh38]
Chr5:140963806..140963807 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2582-7C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003792035] |
Chr5:141529704 [GRCh38]
Chr5:140909271 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1281-6T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003783871] |
Chr5:141576877 [GRCh38]
Chr5:140956444 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.825-18T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003794592] |
Chr5:141579214 [GRCh38]
Chr5:140958781 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.469C>T (p.Arg157Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003785651] |
Chr5:141583549 [GRCh38]
Chr5:140963116 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2358+13_2358+16del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003806540] |
Chr5:141573476..141573479 [GRCh38]
Chr5:140953043..140953046 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3254A>G (p.Lys1085Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003807217] |
Chr5:141527592 [GRCh38]
Chr5:140907159 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1461+5A>G |
single nucleotide variant |
not provided [RCV003490679] |
Chr5:141576225 [GRCh38]
Chr5:140955792 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2482+4A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003794127] |
Chr5:141571424 [GRCh38]
Chr5:140950991 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.172AAG[1] (p.Lys59del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003787794] |
Chr5:141587165..141587167 [GRCh38]
Chr5:140966732..140966734 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2807G>A (p.Arg936His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003780547] |
Chr5:141528913 [GRCh38]
Chr5:140908480 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2940C>G (p.Thr980=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003780540] |
Chr5:141528780 [GRCh38]
Chr5:140908347 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2985T>C (p.Gly995=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003796375] |
Chr5:141528735 [GRCh38]
Chr5:140908302 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3339C>T (p.Thr1113=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003794174] |
Chr5:141526396 [GRCh38]
Chr5:140905963 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3678G>A (p.Gly1226=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003780112] |
Chr5:141516992 [GRCh38]
Chr5:140896559 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.402+5G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003790647] |
Chr5:141584119 [GRCh38]
Chr5:140963686 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2984G>C (p.Gly995Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003795073] |
Chr5:141528736 [GRCh38]
Chr5:140908303 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3112C>G (p.Pro1038Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003805229] |
Chr5:141528489 [GRCh38]
Chr5:140908056 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.211T>C (p.Ser71Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003794680] |
Chr5:141587131 [GRCh38]
Chr5:140966698 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.620+11C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003795105] |
Chr5:141583195 [GRCh38]
Chr5:140962762 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2880C>T (p.Val960=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003806666] |
Chr5:141528840 [GRCh38]
Chr5:140908407 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.534-9T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003797066] |
Chr5:141583301 [GRCh38]
Chr5:140962868 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2426A>G (p.Asn809Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003791244] |
Chr5:141571973 [GRCh38]
Chr5:140951540 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2061C>T (p.Ile687=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003780245] |
Chr5:141573789 [GRCh38]
Chr5:140953356 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1382T>C (p.Ile461Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003784882] |
Chr5:141576770 [GRCh38]
Chr5:140956337 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3067T>C (p.Leu1023=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003791376] |
Chr5:141528534 [GRCh38]
Chr5:140908101 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3273+19A>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003788089] |
Chr5:141527554 [GRCh38]
Chr5:140907121 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1461+10A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003794749] |
Chr5:141576220 [GRCh38]
Chr5:140955787 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3274-37TTGGTC[2] |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003804879] |
Chr5:141526481..141526486 [GRCh38]
Chr5:140906048..140906053 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.590G>A (p.Arg197Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003796503] |
Chr5:141583236 [GRCh38]
Chr5:140962803 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1901C>G (p.Pro634Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003793239] |
Chr5:141573949 [GRCh38]
Chr5:140953516 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1118C>T (p.Ser373Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003796872] |
Chr5:141578270 [GRCh38]
Chr5:140957837 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.411C>G (p.Ser137Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003807319] |
Chr5:141583607 [GRCh38]
Chr5:140963174 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.685-14C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003786855] |
Chr5:141580897 [GRCh38]
Chr5:140960464 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2015G>A (p.Gly672Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003788156] |
Chr5:141573835 [GRCh38]
Chr5:140953402 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.85G>T (p.Ala29Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003794280] |
Chr5:141618830 [GRCh38]
Chr5:140998397 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3217G>A (p.Val1073Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003794294] |
Chr5:141527629 [GRCh38]
Chr5:140907196 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2758T>G (p.Ser920Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003805518] |
Chr5:141529192 [GRCh38]
Chr5:140908759 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.407T>C (p.Met136Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003806412] |
Chr5:141583611 [GRCh38]
Chr5:140963178 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.933+2C>T |
single nucleotide variant |
not provided [RCV003489352] |
Chr5:141579086 [GRCh38]
Chr5:140958653 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.1461+16C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003790371] |
Chr5:141576214 [GRCh38]
Chr5:140955781 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1820C>A (p.Thr607Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003785499] |
Chr5:141574030 [GRCh38]
Chr5:140953597 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.534-11G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003785925] |
Chr5:141583303 [GRCh38]
Chr5:140962870 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3118G>A (p.Glu1040Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003785935] |
Chr5:141528483 [GRCh38]
Chr5:140908050 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1781C>A (p.Thr594Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003780455] |
Chr5:141574069 [GRCh38]
Chr5:140953636 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.825-20G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003806055] |
Chr5:141579216 [GRCh38]
Chr5:140958783 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.402+17G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003783453] |
Chr5:141584107 [GRCh38]
Chr5:140963674 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3438+18G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003805645] |
Chr5:141526279 [GRCh38]
Chr5:140905846 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3127C>T (p.His1043Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003786353] |
Chr5:141528474 [GRCh38]
Chr5:140908041 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.486C>G (p.Leu162=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003807166] |
Chr5:141583532 [GRCh38]
Chr5:140963099 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.443A>G (p.Tyr148Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003787679] |
Chr5:141583575 [GRCh38]
Chr5:140963142 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2359-14G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003785630] |
Chr5:141572054 [GRCh38]
Chr5:140951621 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.895C>T (p.Leu299=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003795917] |
Chr5:141579126 [GRCh38]
Chr5:140958693 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1852C>T (p.Pro618Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003783289]|Inborn genetic diseases [RCV004366509] |
Chr5:141573998 [GRCh38]
Chr5:140953565 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1641+9T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003782862] |
Chr5:141574958 [GRCh38]
Chr5:140954525 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.350A>C (p.Asp117Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003793650] |
Chr5:141584176 [GRCh38]
Chr5:140963743 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3306C>G (p.Asn1102Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003781802] |
Chr5:141526429 [GRCh38]
Chr5:140905996 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2447C>A (p.Thr816Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003789111] |
Chr5:141571952 [GRCh38]
Chr5:140951519 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1840_1860dup (p.Pro620_Leu621insProProProProProProPro) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003792118] |
Chr5:141573989..141573990 [GRCh38]
Chr5:140953556..140953557 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2197C>T (p.Pro733Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003788381] |
Chr5:141573653 [GRCh38]
Chr5:140953220 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1230C>T (p.Phe410=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003788771] |
Chr5:141577525 [GRCh38]
Chr5:140957092 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.701T>C (p.Met234Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003780528] |
Chr5:141580867 [GRCh38]
Chr5:140960434 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1253T>A (p.Leu418His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003793252] |
Chr5:141577502 [GRCh38]
Chr5:140957069 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3252C>G (p.Asp1084Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003791118] |
Chr5:141527594 [GRCh38]
Chr5:140907161 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2274T>G (p.Pro758=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003787505] |
Chr5:141573576 [GRCh38]
Chr5:140953143 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.8C>T (p.Pro3Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003781200] |
Chr5:141618907 [GRCh38]
Chr5:140998474 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.934-16A>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003793776] |
Chr5:141578641 [GRCh38]
Chr5:140958208 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2604C>T (p.Arg868=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003779464] |
Chr5:141529675 [GRCh38]
Chr5:140909242 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1376T>C (p.Ile459Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003792286] |
Chr5:141576776 [GRCh38]
Chr5:140956343 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2600T>A (p.Phe867Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003787681] |
Chr5:141529679 [GRCh38]
Chr5:140909246 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.669T>C (p.Ala223=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003792464] |
Chr5:141582327 [GRCh38]
Chr5:140961894 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3529C>T (p.Leu1177=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003793333] |
Chr5:141526083 [GRCh38]
Chr5:140905650 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.934-8T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003793334] |
Chr5:141578633 [GRCh38]
Chr5:140958200 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.753T>A (p.Ala251=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003804060] |
Chr5:141580815 [GRCh38]
Chr5:140960382 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1642-15A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003781957] |
Chr5:141574223 [GRCh38]
Chr5:140953790 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1052G>A (p.Arg351Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003780676] |
Chr5:141578336 [GRCh38]
Chr5:140957903 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.104A>G (p.Lys35Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003790062] |
Chr5:141618811 [GRCh38]
Chr5:140998378 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3148+17T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003780086] |
Chr5:141528436 [GRCh38]
Chr5:140908003 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2698G>C (p.Glu900Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003782674] |
Chr5:141529252 [GRCh38]
Chr5:140908819 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.715G>A (p.Glu239Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003789338]|Inborn genetic diseases [RCV004981027] |
Chr5:141580853 [GRCh38]
Chr5:140960420 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1717C>A (p.Pro573Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003789356] |
Chr5:141574133 [GRCh38]
Chr5:140953700 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2359-14G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003793943] |
Chr5:141572054 [GRCh38]
Chr5:140951621 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1642-20C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003788216] |
Chr5:141574228 [GRCh38]
Chr5:140953795 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1642G>A (p.Val548Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003804245] |
Chr5:141574208 [GRCh38]
Chr5:140953775 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1788T>C (p.Ile596=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003794191] |
Chr5:141574062 [GRCh38]
Chr5:140953629 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2172T>C (p.Pro724=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003781562] |
Chr5:141573678 [GRCh38]
Chr5:140953245 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3273+8C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003788155] |
Chr5:141527565 [GRCh38]
Chr5:140907132 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2108C>A (p.Pro703Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003782344]|Inborn genetic diseases [RCV004366575] |
Chr5:141573742 [GRCh38]
Chr5:140953309 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.534-14T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003791948] |
Chr5:141583306 [GRCh38]
Chr5:140962873 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3414_3415delinsAA (p.His1139Asn) |
indel |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003788917] |
Chr5:141526320..141526321 [GRCh38]
Chr5:140905887..140905888 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1609C>T (p.Leu537=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003788302] |
Chr5:141574999 [GRCh38]
Chr5:140954566 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1553G>C (p.Gly518Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003793539] |
Chr5:141575055 [GRCh38]
Chr5:140954622 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1879A>G (p.Ile627Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003800985] |
Chr5:141573971 [GRCh38]
Chr5:140953538 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.117T>C (p.Phe39=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003810178] |
Chr5:141618798 [GRCh38]
Chr5:140998365 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.621-3C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003801123] |
Chr5:141582378 [GRCh38]
Chr5:140961945 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1599G>A (p.Glu533=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003801110] |
Chr5:141575009 [GRCh38]
Chr5:140954576 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.620+19T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003797973] |
Chr5:141583187 [GRCh38]
Chr5:140962754 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3662-14G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003808209] |
Chr5:141517022 [GRCh38]
Chr5:140896589 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3574+18_3574+22del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003801205] |
Chr5:141526016..141526020 [GRCh38]
Chr5:140905583..140905587 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.689G>C (p.Gly230Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003809365] |
Chr5:141580879 [GRCh38]
Chr5:140960446 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.825-9C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003800184] |
Chr5:141579205 [GRCh38]
Chr5:140958772 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.534-8C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003799039] |
Chr5:141583300 [GRCh38]
Chr5:140962867 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3555A>C (p.Gln1185His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003801349] |
Chr5:141526057 [GRCh38]
Chr5:140905624 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.198T>A (p.Ser66=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003810405] |
Chr5:141587144 [GRCh38]
Chr5:140966711 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-8_3149-7insC |
insertion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003798098] |
Chr5:141527704..141527705 [GRCh38]
Chr5:140907271..140907272 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1194A>G (p.Leu398=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003798175] |
Chr5:141577561 [GRCh38]
Chr5:140957128 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1928C>A (p.Pro643His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003799345] |
Chr5:141573922 [GRCh38]
Chr5:140953489 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1044+11_1044+16del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003799434] |
Chr5:141578499..141578504 [GRCh38]
Chr5:140958066..140958071 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1220A>G (p.Glu407Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003813655] |
Chr5:141577535 [GRCh38]
Chr5:140957102 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3492A>G (p.Arg1164=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003799439] |
Chr5:141526120 [GRCh38]
Chr5:140905687 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.144+11T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003798403] |
Chr5:141588213 [GRCh38]
Chr5:140967780 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.221C>T (p.Ser74Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003812823] |
Chr5:141587121 [GRCh38]
Chr5:140966688 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2666C>T (p.Ser889Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003812881] |
Chr5:141529613 [GRCh38]
Chr5:140909180 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1642-14T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003813690] |
Chr5:141574222 [GRCh38]
Chr5:140953789 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3037A>G (p.Thr1013Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003799629] |
Chr5:141528564 [GRCh38]
Chr5:140908131 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1236C>A (p.Ser412=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003813036] |
Chr5:141577519 [GRCh38]
Chr5:140957086 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.904T>C (p.Leu302=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003798577] |
Chr5:141579117 [GRCh38]
Chr5:140958684 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1919C>G (p.Ser640Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003799660] |
Chr5:141573931 [GRCh38]
Chr5:140953498 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.144+2T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003809923] |
Chr5:141588222 [GRCh38]
Chr5:140967789 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.1530G>A (p.Glu510=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003798655] |
Chr5:141575078 [GRCh38]
Chr5:140954645 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2359-13C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003798652] |
Chr5:141572053 [GRCh38]
Chr5:140951620 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.924T>G (p.Ile308Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003800797] |
Chr5:141579097 [GRCh38]
Chr5:140958664 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3409G>T (p.Asp1137Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003808909] |
Chr5:141526326 [GRCh38]
Chr5:140905893 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3081T>C (p.Cys1027=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003808911] |
Chr5:141528520 [GRCh38]
Chr5:140908087 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3589G>T (p.Gly1197Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003809987] |
Chr5:141524215 [GRCh38]
Chr5:140903782 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2893_2894inv (p.Glu965Ser) |
inversion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003800539] |
Chr5:141528826..141528827 [GRCh38]
Chr5:140908393..140908394 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2842G>A (p.Glu948Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003797907] |
Chr5:141528878 [GRCh38]
Chr5:140908445 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2676+12G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003800580] |
Chr5:141529591 [GRCh38]
Chr5:140909158 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2581+12T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003798453] |
Chr5:141534323 [GRCh38]
Chr5:140913890 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3709C>A (p.Leu1237Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003800586] |
Chr5:141516961 [GRCh38]
Chr5:140896528 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.486C>T (p.Leu162=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003801996] |
Chr5:141583532 [GRCh38]
Chr5:140963099 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.279G>A (p.Leu93=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003808687] |
Chr5:141587063 [GRCh38]
Chr5:140966630 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.933+18A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003799582] |
Chr5:141579070 [GRCh38]
Chr5:140958637 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.467T>C (p.Leu156Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003800106] |
Chr5:141583551 [GRCh38]
Chr5:140963118 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3559A>C (p.Ile1187Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003799483] |
Chr5:141526053 [GRCh38]
Chr5:140905620 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.68C>T (p.Pro23Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003800061] |
Chr5:141618847 [GRCh38]
Chr5:140998414 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2771G>T (p.Gly924Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003817868] |
Chr5:141529179 [GRCh38]
Chr5:140908746 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2091T>A (p.Ser697Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003808874] |
Chr5:141573759 [GRCh38]
Chr5:140953326 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3600C>T (p.Asp1200=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003818070] |
Chr5:141524204 [GRCh38]
Chr5:140903771 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1910C>A (p.Thr637Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003801936] |
Chr5:141573940 [GRCh38]
Chr5:140953507 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3662-20T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003809463] |
Chr5:141517028 [GRCh38]
Chr5:140896595 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1069G>C (p.Asp357His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003809466] |
Chr5:141578319 [GRCh38]
Chr5:140957886 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.403-4C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003798196] |
Chr5:141583619 [GRCh38]
Chr5:140963186 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.469C>G (p.Arg157Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003817688] |
Chr5:141583549 [GRCh38]
Chr5:140963116 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3711G>A (p.Leu1237=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003813111] |
Chr5:141516959 [GRCh38]
Chr5:140896526 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2312A>C (p.Lys771Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003813228] |
Chr5:141573538 [GRCh38]
Chr5:140953105 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3635T>C (p.Phe1212Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003813299] |
Chr5:141524169 [GRCh38]
Chr5:140903736 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.301-6T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003810548] |
Chr5:141584231 [GRCh38]
Chr5:140963798 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3673G>T (p.Ala1225Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003800922] |
Chr5:141516997 [GRCh38]
Chr5:140896564 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3706G>C (p.Glu1236Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003809530] |
Chr5:141516964 [GRCh38]
Chr5:140896531 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.89del (p.Gly30fs) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003810308] |
Chr5:141618826 [GRCh38]
Chr5:140998393 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.2255C>A (p.Pro752Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003809317] |
Chr5:141573595 [GRCh38]
Chr5:140953162 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.380A>G (p.Gln127Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003800176]|Inborn genetic diseases [RCV004614529] |
Chr5:141584146 [GRCh38]
Chr5:140963713 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.666A>G (p.Lys222=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003817813] |
Chr5:141582330 [GRCh38]
Chr5:140961897 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3182A>G (p.Gln1061Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003812320] |
Chr5:141527664 [GRCh38]
Chr5:140907231 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.533+18G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003812447] |
Chr5:141583467 [GRCh38]
Chr5:140963034 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.381A>G (p.Gln127=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003812450] |
Chr5:141584145 [GRCh38]
Chr5:140963712 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1726G>A (p.Val576Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003808825] |
Chr5:141574124 [GRCh38]
Chr5:140953691 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.158C>T (p.Thr53Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003808840] |
Chr5:141587184 [GRCh38]
Chr5:140966751 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3099T>A (p.Asp1033Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003815700] |
Chr5:141528502 [GRCh38]
Chr5:140908069 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.369G>C (p.Glu123Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003815746]|not provided [RCV004780665] |
Chr5:141584157 [GRCh38]
Chr5:140963724 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.358A>G (p.Ile120Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003808987] |
Chr5:141584168 [GRCh38]
Chr5:140963735 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1952T>A (p.Ile651Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003815707] |
Chr5:141573898 [GRCh38]
Chr5:140953465 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.75G>C (p.Glu25Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003801056] |
Chr5:141618840 [GRCh38]
Chr5:140998407 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1164-9C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003812500] |
Chr5:141577600 [GRCh38]
Chr5:140957167 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.708G>A (p.Glu236=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003817764] |
Chr5:141580860 [GRCh38]
Chr5:140960427 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3574+15C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003815556] |
Chr5:141526023 [GRCh38]
Chr5:140905590 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2028_2030del (p.Pro680del) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003799886] |
Chr5:141573820..141573822 [GRCh38]
Chr5:140953387..140953389 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.118-5C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003809676] |
Chr5:141588255 [GRCh38]
Chr5:140967822 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.792T>C (p.Ser264=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003809684] |
Chr5:141580776 [GRCh38]
Chr5:140960343 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.427A>G (p.Lys143Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003798435] |
Chr5:141583591 [GRCh38]
Chr5:140963158 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2493T>G (p.Asp831Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003801229] |
Chr5:141534423 [GRCh38]
Chr5:140913990 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1281-13T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003799662] |
Chr5:141576884 [GRCh38]
Chr5:140956451 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1978G>T (p.Gly660Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003800725] |
Chr5:141573872 [GRCh38]
Chr5:140953439 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3662-19C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003815737] |
Chr5:141517027 [GRCh38]
Chr5:140896594 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.300+19A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003809391] |
Chr5:141587023 [GRCh38]
Chr5:140966590 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1650G>A (p.Lys550=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003812510] |
Chr5:141574200 [GRCh38]
Chr5:140953767 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2263T>C (p.Phe755Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003812641] |
Chr5:141573587 [GRCh38]
Chr5:140953154 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2056A>G (p.Arg686Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003801043] |
Chr5:141573794 [GRCh38]
Chr5:140953361 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.839del (p.Leu280fs) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003813164] |
Chr5:141579182 [GRCh38]
Chr5:140958749 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.699C>A (p.Thr233=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003809644] |
Chr5:141580869 [GRCh38]
Chr5:140960436 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.933+16G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003813061] |
Chr5:141579072 [GRCh38]
Chr5:140958639 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1978G>A (p.Gly660Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003808110] |
Chr5:141573872 [GRCh38]
Chr5:140953439 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3149-3T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003813411] |
Chr5:141527700 [GRCh38]
Chr5:140907267 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2287C>G (p.Leu763Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003815280] |
Chr5:141573563 [GRCh38]
Chr5:140953130 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.437T>C (p.Met146Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003809302] |
Chr5:141583581 [GRCh38]
Chr5:140963148 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2846A>T (p.Gln949Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003813613] |
Chr5:141528874 [GRCh38]
Chr5:140908441 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1636G>A (p.Gly546Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003800183] |
Chr5:141574972 [GRCh38]
Chr5:140954539 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3297A>G (p.Glu1099=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003802427] |
Chr5:141526438 [GRCh38]
Chr5:140906005 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1262G>T (p.Arg421Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003803061] |
Chr5:141577493 [GRCh38]
Chr5:140957060 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1381A>G (p.Ile461Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003803756] |
Chr5:141576771 [GRCh38]
Chr5:140956338 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.543A>G (p.Gln181=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003803634] |
Chr5:141583283 [GRCh38]
Chr5:140962850 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1535A>G (p.Lys512Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003803203] |
Chr5:141575073 [GRCh38]
Chr5:140954640 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3192A>G (p.Lys1064=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003803259] |
Chr5:141527654 [GRCh38]
Chr5:140907221 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1308A>G (p.Glu436=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003803836] |
Chr5:141576844 [GRCh38]
Chr5:140956411 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3662-9C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003803481] |
Chr5:141517017 [GRCh38]
Chr5:140896584 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2813A>T (p.Asn938Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003803633] |
Chr5:141528907 [GRCh38]
Chr5:140908474 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.890C>T (p.Pro297Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003803873] |
Chr5:141579131 [GRCh38]
Chr5:140958698 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.868G>T (p.Asp290Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003802731] |
Chr5:141579153 [GRCh38]
Chr5:140958720 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.845C>T (p.Ala282Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003803578] |
Chr5:141579176 [GRCh38]
Chr5:140958743 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1917C>T (p.Ile639=) |
single nucleotide variant |
DIAPH1-related disorder [RCV003939517] |
Chr5:141573933 [GRCh38]
Chr5:140953500 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.58G>A (p.Gly20Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003802336] |
Chr5:141618857 [GRCh38]
Chr5:140998424 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2147C>T (p.Pro716Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003802790] |
Chr5:141573703 [GRCh38]
Chr5:140953270 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2746G>A (p.Asp916Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003802932] |
Chr5:141529204 [GRCh38]
Chr5:140908771 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1044+14C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003803248] |
Chr5:141578501 [GRCh38]
Chr5:140958068 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2473+3G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003803832] |
Chr5:141571923 [GRCh38]
Chr5:140951490 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2680C>T (p.Leu894Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003803470] |
Chr5:141529270 [GRCh38]
Chr5:140908837 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1524C>G (p.Asp508Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003803539] |
Chr5:141575084 [GRCh38]
Chr5:140954651 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.147G>A (p.Leu49=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003802296] |
Chr5:141587195 [GRCh38]
Chr5:140966762 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1095T>C (p.Phe365=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003802676] |
Chr5:141578293 [GRCh38]
Chr5:140957860 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1734T>G (p.Ser578Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003802831] |
Chr5:141574116 [GRCh38]
Chr5:140953683 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.23T>C (p.Leu8Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004373693] |
Chr5:141618892 [GRCh38]
Chr5:140998459 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3080G>A (p.Cys1027Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004373694] |
Chr5:141528521 [GRCh38]
Chr5:140908088 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.791C>A (p.Ser264Tyr) |
single nucleotide variant |
Auditory neuropathy spectrum disorder [RCV003984979] |
Chr5:141580777 [GRCh38]
Chr5:140960344 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.400G>T (p.Ala134Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004373695] |
Chr5:141584126 [GRCh38]
Chr5:140963693 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.887A>G (p.Gln296Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004373696] |
Chr5:141579134 [GRCh38]
Chr5:140958701 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.880C>T (p.Arg294Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005220786]|DIAPH1-related disorder [RCV003902206] |
Chr5:141579141 [GRCh38]
Chr5:140958708 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.439A>G (p.Met147Val) |
single nucleotide variant |
not provided [RCV004722050] |
Chr5:141583579 [GRCh38]
Chr5:140963146 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.-31C>G |
single nucleotide variant |
DIAPH1-related disorder [RCV003949243] |
Chr5:141618945 [GRCh38]
Chr5:140998512 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.974C>T (p.Ala325Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005220882]|Inborn genetic diseases [RCV004373697] |
Chr5:141578585 [GRCh38]
Chr5:140958152 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NC_000005.9:g.(?_140998345)_(140998481_?)del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV004580515] |
Chr5:140998345..140998481 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.3107A>C (p.Lys1036Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002797249] |
Chr5:141528494 [GRCh38]
Chr5:140908061 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3233C>T (p.Ala1078Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002912453] |
Chr5:141527613 [GRCh38]
Chr5:140907180 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2733G>A (p.Lys911=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003082554] |
Chr5:141529217 [GRCh38]
Chr5:140908784 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-16T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003007638] |
Chr5:141527713 [GRCh38]
Chr5:140907280 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3156T>C (p.Ala1052=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003040108] |
Chr5:141527690 [GRCh38]
Chr5:140907257 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3354G>A (p.Leu1118=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003006131] |
Chr5:141526381 [GRCh38]
Chr5:140905948 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2222C>T (p.Pro741Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV002828507] |
Chr5:141573628 [GRCh38]
Chr5:140953195 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3203A>T (p.Asp1068Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003055846] |
Chr5:141527643 [GRCh38]
Chr5:140907210 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1891C>T (p.Pro631Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003778862]|not provided [RCV003146081] |
Chr5:141573959 [GRCh38]
Chr5:140953526 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1795C>A (p.Pro599Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003778863]|not provided [RCV003146084] |
Chr5:141574055 [GRCh38]
Chr5:140953622 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2492A>G (p.Asp831Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003777417]|not provided [RCV003334275] |
Chr5:141534424 [GRCh38]
Chr5:140913991 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2597C>A (p.Ser866Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003333826]|Autosomal dominant nonsyndromic hearing loss 1 [RCV003777414] |
Chr5:141529682 [GRCh38]
Chr5:140909249 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1742C>T (p.Pro581Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003381007] |
Chr5:141574108 [GRCh38]
Chr5:140953675 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2483-16162G>A |
single nucleotide variant |
not specified [RCV003489212] |
Chr5:141550595 [GRCh38]
Chr5:140930162 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.2025C>A (p.Ile675=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003807750] |
Chr5:141573825 [GRCh38]
Chr5:140953392 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1501G>A (p.Glu501Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003787925] |
Chr5:141575107 [GRCh38]
Chr5:140954674 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.183G>A (p.Lys61=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003779448] |
Chr5:141587159 [GRCh38]
Chr5:140966726 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1769G>C (p.Gly590Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003796492] |
Chr5:141574081 [GRCh38]
Chr5:140953648 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3105C>T (p.Leu1035=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003795290] |
Chr5:141528496 [GRCh38]
Chr5:140908063 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1205A>G (p.Lys402Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003795482] |
Chr5:141577550 [GRCh38]
Chr5:140957117 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.132C>T (p.Leu44=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003806314] |
Chr5:141588236 [GRCh38]
Chr5:140967803 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.810G>T (p.Pro270=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003785095] |
Chr5:141580758 [GRCh38]
Chr5:140960325 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1689T>A (p.Ala563=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003789981] |
Chr5:141574161 [GRCh38]
Chr5:140953728 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3504C>T (p.Ala1168=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003787494] |
Chr5:141526108 [GRCh38]
Chr5:140905675 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3661G>A (p.Ala1221Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003808214] |
Chr5:141524143 [GRCh38]
Chr5:140903710 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.482T>C (p.Leu161Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003815391] |
Chr5:141583536 [GRCh38]
Chr5:140963103 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3574+5G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV003815393] |
Chr5:141526033 [GRCh38]
Chr5:140905600 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NC_000005.9:g.(?_140967771)_(140967837_?)del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV004580516] |
Chr5:140967771..140967837 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NC_000005.9:g.(?_140896418)_(140998481_?)dup |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV004580517] |
Chr5:140896418..140998481 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NC_000005.9:g.(?_140953039)_(140954733_?)dup |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV004580518] |
Chr5:140953039..140954733 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2954A>G (p.Asn985Ser) |
single nucleotide variant |
not provided [RCV004585895] |
Chr5:141528766 [GRCh38]
Chr5:140908333 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2407del (p.Glu803fs) |
deletion |
not provided [RCV004697527] |
Chr5:141571992 [GRCh38]
Chr5:140951559 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.620+170T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV004698750] |
Chr5:141583036 [GRCh38]
Chr5:140962603 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3604C>T (p.Leu1202Phe) |
single nucleotide variant |
DIAPH1-related disorder [RCV004732354] |
Chr5:141524200 [GRCh38]
Chr5:140903767 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.244C>T (p.Gln82Ter) |
single nucleotide variant |
DIAPH1-related disorder [RCV004753986] |
Chr5:141587098 [GRCh38]
Chr5:140966665 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.1170T>C (p.Phe390=) |
single nucleotide variant |
not provided [RCV004810502] |
Chr5:141577585 [GRCh38]
Chr5:140957152 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3273+6C>G |
single nucleotide variant |
not provided [RCV004792905] |
Chr5:141527567 [GRCh38]
Chr5:140907134 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1875_1876delinsAC (p.Cys626Arg) |
indel |
not provided [RCV004792906] |
Chr5:141573974..141573975 [GRCh38]
Chr5:140953541..140953542 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2186C>G (p.Pro729Arg) |
single nucleotide variant |
not provided [RCV004761399] |
|
uncertain significance |
| NM_005219.5(DIAPH1):c.3662-1931C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV004790046] |
Chr5:141518939 [GRCh38]
Chr5:140898506 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1212A>T (p.Ser404=) |
single nucleotide variant |
not provided [RCV004761710] |
|
uncertain significance |
| NM_005219.5(DIAPH1):c.3613_3616del (p.Ala1205fs) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV004797111] |
Chr5:141524188..141524191 [GRCh38]
Chr5:140903755..140903758 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3613G>A (p.Ala1205Thr) |
single nucleotide variant |
not provided [RCV004760823] |
|
uncertain significance |
| NM_005219.5(DIAPH1):c.3623C>T (p.Ser1208Leu) |
single nucleotide variant |
not provided [RCV004771245] |
Chr5:141524181 [GRCh38]
Chr5:140903748 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1943A>T (p.Asp648Val) |
single nucleotide variant |
not provided [RCV004771351] |
Chr5:141573907 [GRCh38]
Chr5:140953474 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2188C>T (p.Pro730Ser) |
single nucleotide variant |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [RCV004764268] |
|
likely pathogenic|uncertain significance |
| NM_005219.5(DIAPH1):c.2527A>G (p.Lys843Glu) |
single nucleotide variant |
DIAPH1-related disorder [RCV004730530] |
Chr5:141534389 [GRCh38]
Chr5:140913956 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2054C>T (p.Ala685Val) |
single nucleotide variant |
not provided [RCV004775850] |
Chr5:141573796 [GRCh38]
Chr5:140953363 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3250G>A (p.Asp1084Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004981171]|not provided [RCV004720127] |
Chr5:141527596 [GRCh38]
Chr5:140907163 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2155C>T (p.Pro719Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004976875] |
Chr5:141573695 [GRCh38]
Chr5:140953262 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.164T>G (p.Met55Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004976876] |
Chr5:141587178 [GRCh38]
Chr5:140966745 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1823C>T (p.Pro608Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005212490] |
Chr5:141574027 [GRCh38]
Chr5:140953594 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.60C>T (p.Gly20=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215360] |
Chr5:141618855 [GRCh38]
Chr5:140998422 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3507G>A (p.Lys1169=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005229247] |
Chr5:141526105 [GRCh38]
Chr5:140905672 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2482+5G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005214511] |
Chr5:141571423 [GRCh38]
Chr5:140950990 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2359-15T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005214960] |
Chr5:141572055 [GRCh38]
Chr5:140951622 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1163+8T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215209] |
Chr5:141578217 [GRCh38]
Chr5:140957784 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2815G>A (p.Ala939Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005212774] |
Chr5:141528905 [GRCh38]
Chr5:140908472 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.822C>T (p.Asp274=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005228258] |
Chr5:141580746 [GRCh38]
Chr5:140960313 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3652C>T (p.Pro1218Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005214499] |
Chr5:141524152 [GRCh38]
Chr5:140903719 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.933+11C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005214898] |
Chr5:141579077 [GRCh38]
Chr5:140958644 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.117+3G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215301] |
Chr5:141618795 [GRCh38]
Chr5:140998362 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1717CCT[1] (p.Pro574del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005212311] |
Chr5:141574128..141574130 [GRCh38]
Chr5:140953695..140953697 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2103C>T (p.Pro701=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005212333] |
Chr5:141573747 [GRCh38]
Chr5:140953314 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.121C>T (p.Leu41=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215163] |
Chr5:141588247 [GRCh38]
Chr5:140967814 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.405C>T (p.Gly135=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005212541] |
Chr5:141583613 [GRCh38]
Chr5:140963180 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1396+15C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005214097] |
Chr5:141576741 [GRCh38]
Chr5:140956308 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2677-10T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005210789] |
Chr5:141529283 [GRCh38]
Chr5:140908850 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2581+17C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005210865] |
Chr5:141534318 [GRCh38]
Chr5:140913885 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.899A>G (p.Asp300Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005226138] |
Chr5:141579122 [GRCh38]
Chr5:140958689 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3019-7C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005214174] |
Chr5:141528589 [GRCh38]
Chr5:140908156 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1065T>C (p.Asn355=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005229000] |
Chr5:141578323 [GRCh38]
Chr5:140957890 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2829G>A (p.Lys943=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005226345] |
Chr5:141528891 [GRCh38]
Chr5:140908458 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1783A>G (p.Ile595Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005229153] |
Chr5:141574067 [GRCh38]
Chr5:140953634 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.480T>C (p.Pro160=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005213052] |
Chr5:141583538 [GRCh38]
Chr5:140963105 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3366C>T (p.Phe1122=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005228648] |
Chr5:141526369 [GRCh38]
Chr5:140905936 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1007G>A (p.Ser336Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215331] |
Chr5:141578552 [GRCh38]
Chr5:140958119 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2848G>A (p.Val950Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005228951] |
Chr5:141528872 [GRCh38]
Chr5:140908439 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2779-10T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005212429] |
Chr5:141528951 [GRCh38]
Chr5:140908518 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2108del (p.Pro703fs) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005214818] |
Chr5:141573742 [GRCh38]
Chr5:140953309 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.1327C>G (p.Leu443Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005210518] |
Chr5:141576825 [GRCh38]
Chr5:140956392 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1121A>G (p.Tyr374Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005210598] |
Chr5:141578267 [GRCh38]
Chr5:140957834 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3149-3_3149-2insC |
insertion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005227117] |
Chr5:141527699..141527700 [GRCh38]
Chr5:140907266..140907267 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2358+6del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005225680] |
Chr5:141573486 [GRCh38]
Chr5:140953053 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.991C>T (p.Arg331Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005210580] |
Chr5:141578568 [GRCh38]
Chr5:140958135 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.461C>T (p.Ser154Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005210662] |
Chr5:141583557 [GRCh38]
Chr5:140963124 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.808C>T (p.Pro270Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005226248] |
Chr5:141580760 [GRCh38]
Chr5:140960327 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2421G>A (p.Glu807=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005209811] |
Chr5:141571978 [GRCh38]
Chr5:140951545 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.825-7T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005226703] |
Chr5:141579203 [GRCh38]
Chr5:140958770 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3117C>G (p.Asp1039Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005226997] |
Chr5:141528484 [GRCh38]
Chr5:140908051 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1281-3T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005211336] |
Chr5:141576874 [GRCh38]
Chr5:140956441 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.117+13C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005209946] |
Chr5:141618785 [GRCh38]
Chr5:140998352 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3490C>A (p.Arg1164=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005210049] |
Chr5:141526122 [GRCh38]
Chr5:140905689 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3592G>A (p.Val1198Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005212653] |
Chr5:141524212 [GRCh38]
Chr5:140903779 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3274-11C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005210582] |
Chr5:141526472 [GRCh38]
Chr5:140906039 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.866T>C (p.Met289Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005228217] |
Chr5:141579155 [GRCh38]
Chr5:140958722 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1684A>T (p.Met562Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005214015] |
Chr5:141574166 [GRCh38]
Chr5:140953733 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.786G>A (p.Leu262=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005210929] |
Chr5:141580782 [GRCh38]
Chr5:140960349 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.807A>G (p.Leu269=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005211071] |
Chr5:141580761 [GRCh38]
Chr5:140960328 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.63G>C (p.Arg21=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005211123] |
Chr5:141618852 [GRCh38]
Chr5:140998419 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3040G>C (p.Asp1014His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005228574] |
Chr5:141528561 [GRCh38]
Chr5:140908128 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2473+8C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005226778] |
Chr5:141571918 [GRCh38]
Chr5:140951485 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2254C>G (p.Pro752Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005211282] |
Chr5:141573596 [GRCh38]
Chr5:140953163 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3516del (p.Glu1173fs) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005226382] |
Chr5:141526096 [GRCh38]
Chr5:140905663 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.3416A>G (p.His1139Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005226858] |
Chr5:141526319 [GRCh38]
Chr5:140905886 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.145-13T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005211266] |
Chr5:141587210 [GRCh38]
Chr5:140966777 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.301-14dup |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005212846] |
Chr5:141584238..141584239 [GRCh38]
Chr5:140963805..140963806 [GRCh37]
Chr5:5q31.3 |
benign |
| NM_005219.5(DIAPH1):c.3686T>A (p.Val1229Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005229156] |
Chr5:141516984 [GRCh38]
Chr5:140896551 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.370A>G (p.Met124Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005212272] |
Chr5:141584156 [GRCh38]
Chr5:140963723 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2911G>C (p.Glu971Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005210488] |
Chr5:141528809 [GRCh38]
Chr5:140908376 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3656G>A (p.Arg1219His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005227148] |
Chr5:141524148 [GRCh38]
Chr5:140903715 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3438+12A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005210736] |
Chr5:141526285 [GRCh38]
Chr5:140905852 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1450C>T (p.Leu484=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005226360] |
Chr5:141576241 [GRCh38]
Chr5:140955808 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.72T>C (p.Asp24=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005211122] |
Chr5:141618843 [GRCh38]
Chr5:140998410 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.145-17T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005228861] |
Chr5:141587214 [GRCh38]
Chr5:140966781 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.964A>G (p.Ile322Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005212493] |
Chr5:141578595 [GRCh38]
Chr5:140958162 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.897G>A (p.Leu299=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005220269] |
Chr5:141579124 [GRCh38]
Chr5:140958691 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2139_2150dup (p.Pro719_Leu720insProProProPro) |
duplication |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005223741] |
Chr5:141573699..141573700 [GRCh38]
Chr5:140953266..140953267 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.811C>T (p.Gln271Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005216370] |
Chr5:141580757 [GRCh38]
Chr5:140960324 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.3226T>A (p.Phe1076Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005218598] |
Chr5:141527620 [GRCh38]
Chr5:140907187 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1913C>G (p.Ala638Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215619] |
Chr5:141573937 [GRCh38]
Chr5:140953504 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3195A>C (p.Gln1065His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215726] |
Chr5:141527651 [GRCh38]
Chr5:140907218 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.30C>G (p.Pro10=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215738] |
Chr5:141618885 [GRCh38]
Chr5:140998452 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1559A>G (p.Lys520Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005217965] |
Chr5:141575049 [GRCh38]
Chr5:140954616 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3092A>T (p.Tyr1031Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005217988] |
Chr5:141528509 [GRCh38]
Chr5:140908076 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2153C>T (p.Pro718Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005223991] |
Chr5:141573697 [GRCh38]
Chr5:140953264 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2174G>C (p.Gly725Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005219047] |
Chr5:141573676 [GRCh38]
Chr5:140953243 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1461+8T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005219800] |
Chr5:141576222 [GRCh38]
Chr5:140955789 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3747G>A (p.Lys1249=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005223436] |
Chr5:141516923 [GRCh38]
Chr5:140896490 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.702G>T (p.Met234Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005217872] |
Chr5:141580866 [GRCh38]
Chr5:140960433 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1182T>C (p.Phe394=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005220586] |
Chr5:141577573 [GRCh38]
Chr5:140957140 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.745G>C (p.Asp249His) |
single nucleotide variant |
not provided [RCV005241875] |
Chr5:141580823 [GRCh38]
Chr5:140960390 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1750C>A (p.Pro584Thr) |
single nucleotide variant |
not provided [RCV005245410] |
Chr5:141574100 [GRCh38]
Chr5:140953667 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1343C>T (p.Ala448Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005218892] |
Chr5:141576809 [GRCh38]
Chr5:140956376 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3513G>A (p.Lys1171=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005219171] |
Chr5:141526099 [GRCh38]
Chr5:140905666 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1888C>A (p.Pro630Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005223817] |
Chr5:141573962 [GRCh38]
Chr5:140953529 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2015G>T (p.Gly672Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005217288] |
Chr5:141573835 [GRCh38]
Chr5:140953402 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1557A>G (p.Glu519=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005221615] |
Chr5:141575051 [GRCh38]
Chr5:140954618 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3019-5C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005217480] |
Chr5:141528587 [GRCh38]
Chr5:140908154 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3149-15_3149-3del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005224162] |
Chr5:141527700..141527712 [GRCh38]
Chr5:140907267..140907279 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2230G>A (p.Gly744Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005224311] |
Chr5:141573620 [GRCh38]
Chr5:140953187 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3378C>T (p.Pro1126=) |
single nucleotide variant |
not provided [RCV005234519] |
Chr5:141526357 [GRCh38]
Chr5:140905924 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1916T>C (p.Ile639Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215470] |
Chr5:141573934 [GRCh38]
Chr5:140953501 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1705G>A (p.Ala569Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215523] |
Chr5:141574145 [GRCh38]
Chr5:140953712 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1044+8A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005222434] |
Chr5:141578507 [GRCh38]
Chr5:140958074 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2135G>A (p.Gly712Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005216771] |
Chr5:141573715 [GRCh38]
Chr5:140953282 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1644T>A (p.Val548=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005216821] |
Chr5:141574206 [GRCh38]
Chr5:140953773 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1563T>C (p.Asp521=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005219066] |
Chr5:141575045 [GRCh38]
Chr5:140954612 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2198C>G (p.Pro733Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005221656] |
Chr5:141573652 [GRCh38]
Chr5:140953219 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3143G>C (p.Ser1048Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005217261] |
Chr5:141528458 [GRCh38]
Chr5:140908025 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1280+14C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005224675] |
Chr5:141577461 [GRCh38]
Chr5:140957028 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.117+19C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005219135] |
Chr5:141618779 [GRCh38]
Chr5:140998346 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2676G>A (p.Gln892=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005224479] |
Chr5:141529603 [GRCh38]
Chr5:140909170 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.49A>G (p.Lys17Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005224545] |
Chr5:141618866 [GRCh38]
Chr5:140998433 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.219A>G (p.Ala73=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005216352] |
Chr5:141587123 [GRCh38]
Chr5:140966690 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2615A>G (p.Gln872Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005219174] |
Chr5:141529664 [GRCh38]
Chr5:140909231 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1874T>C (p.Val625Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005220292] |
Chr5:141573976 [GRCh38]
Chr5:140953543 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1641+16G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005220331] |
Chr5:141574951 [GRCh38]
Chr5:140954518 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1741C>G (p.Pro581Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005223807] |
Chr5:141574109 [GRCh38]
Chr5:140953676 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2256A>G (p.Pro752=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005221586] |
Chr5:141573594 [GRCh38]
Chr5:140953161 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.722T>G (p.Ile241Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005220480] |
Chr5:141580846 [GRCh38]
Chr5:140960413 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1947T>C (p.Ala649=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005223842] |
Chr5:141573903 [GRCh38]
Chr5:140953470 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2821C>A (p.Leu941Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005223859] |
Chr5:141528899 [GRCh38]
Chr5:140908466 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.650T>C (p.Ile217Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005216500] |
Chr5:141582346 [GRCh38]
Chr5:140961913 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.301-20C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005218235] |
Chr5:141584245 [GRCh38]
Chr5:140963812 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2553G>A (p.Val851=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005220406] |
Chr5:141534363 [GRCh38]
Chr5:140913930 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.769A>G (p.Ile257Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005220426] |
Chr5:141580799 [GRCh38]
Chr5:140960366 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1476A>G (p.Leu492=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005216652] |
Chr5:141575132 [GRCh38]
Chr5:140954699 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.203A>G (p.His68Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005224173] |
Chr5:141587139 [GRCh38]
Chr5:140966706 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2466G>T (p.Gln822His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005216770] |
Chr5:141571933 [GRCh38]
Chr5:140951500 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.933+19A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005218213] |
Chr5:141579069 [GRCh38]
Chr5:140958636 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2039C>G (p.Pro680Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005217035] |
Chr5:141573811 [GRCh38]
Chr5:140953378 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2748C>T (p.Asp916=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005218482] |
Chr5:141529202 [GRCh38]
Chr5:140908769 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.30del (p.Gly11fs) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005217233] |
Chr5:141618885 [GRCh38]
Chr5:140998452 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.1280+8G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005216328] |
Chr5:141577467 [GRCh38]
Chr5:140957034 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1394T>C (p.Ile465Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005224361] |
Chr5:141576758 [GRCh38]
Chr5:140956325 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.533+1G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005218609] |
Chr5:141583484 [GRCh38]
Chr5:140963051 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.2413C>T (p.Arg805Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005216445] |
Chr5:141571986 [GRCh38]
Chr5:140951553 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1044+1G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005219746] |
Chr5:141578514 [GRCh38]
Chr5:140958081 [GRCh37]
Chr5:5q31.3 |
likely pathogenic |
| NM_005219.5(DIAPH1):c.1450C>G (p.Leu484Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005219632] |
Chr5:141576241 [GRCh38]
Chr5:140955808 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.908A>G (p.Lys303Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005216507] |
Chr5:141579113 [GRCh38]
Chr5:140958680 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.255A>C (p.Gln85His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005218699] |
Chr5:141587087 [GRCh38]
Chr5:140966654 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2696C>T (p.Pro899Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005219808] |
Chr5:141529254 [GRCh38]
Chr5:140908821 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1177G>A (p.Val393Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005217571] |
Chr5:141577578 [GRCh38]
Chr5:140957145 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.975G>T (p.Ala325=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005219880] |
Chr5:141578584 [GRCh38]
Chr5:140958151 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1961C>A (p.Pro654His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005222213] |
Chr5:141573889 [GRCh38]
Chr5:140953456 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.403-15A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005223522] |
Chr5:141583630 [GRCh38]
Chr5:140963197 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1815T>C (p.Ser605=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215440] |
Chr5:141574035 [GRCh38]
Chr5:140953602 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.3273+4T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005218814] |
Chr5:141527569 [GRCh38]
Chr5:140907136 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1609del (p.Leu537fs) |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215404] |
Chr5:141574999 [GRCh38]
Chr5:140954566 [GRCh37]
Chr5:5q31.3 |
pathogenic |
| NM_005219.5(DIAPH1):c.2209G>A (p.Gly737Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215484] |
Chr5:141573641 [GRCh38]
Chr5:140953208 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2424C>T (p.Asn808=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005223541] |
Chr5:141571975 [GRCh38]
Chr5:140951542 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.2651C>T (p.Ala884Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005217734] |
Chr5:141529628 [GRCh38]
Chr5:140909195 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.684+18C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005218954] |
Chr5:141582294 [GRCh38]
Chr5:140961861 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1163+6C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005220042] |
Chr5:141578219 [GRCh38]
Chr5:140957786 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.189G>T (p.Lys63Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005217843] |
Chr5:141587153 [GRCh38]
Chr5:140966720 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2180C>T (p.Pro727Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005217849] |
Chr5:141573670 [GRCh38]
Chr5:140953237 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2453C>A (p.Thr818Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005215783] |
Chr5:141571946 [GRCh38]
Chr5:140951513 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.117+12T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005217877] |
Chr5:141618786 [GRCh38]
Chr5:140998353 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1149T>G (p.Ile383Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005220070] |
Chr5:141578239 [GRCh38]
Chr5:140957806 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3755A>C (p.Lys1252Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005216932] |
Chr5:141516915 [GRCh38]
Chr5:140896482 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3281T>A (p.Val1094Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004616248] |
Chr5:141526454 [GRCh38]
Chr5:140906021 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2237G>T (p.Gly746Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004616246] |
Chr5:141573613 [GRCh38]
Chr5:140953180 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2041T>G (p.Leu681Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV004790103] |
Chr5:141573809 [GRCh38]
Chr5:140953376 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1421T>G (p.Val474Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004976874] |
Chr5:141576270 [GRCh38]
Chr5:140955837 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.2027C>G (p.Pro676Arg) |
single nucleotide variant |
not provided [RCV005004070] |
Chr5:141573823 [GRCh38]
Chr5:140953390 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1484G>A (p.Arg495Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004976871] |
Chr5:141575124 [GRCh38]
Chr5:140954691 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.1760C>T (p.Pro587Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004976872] |
Chr5:141574090 [GRCh38]
Chr5:140953657 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1201G>A (p.Val401Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004976873] |
Chr5:141577554 [GRCh38]
Chr5:140957121 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.81C>T (p.Pro27=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005211121] |
Chr5:141618834 [GRCh38]
Chr5:140998401 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.685-18T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005210866] |
Chr5:141580901 [GRCh38]
Chr5:140960468 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.3002T>G (p.Ile1001Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005226142] |
Chr5:141528718 [GRCh38]
Chr5:140908285 [GRCh37]
Chr5:5q31.3 |
uncertain significance |
| NM_005219.5(DIAPH1):c.621-20_621-15del |
deletion |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005211159] |
Chr5:141582390..141582395 [GRCh38]
Chr5:140961957..140961962 [GRCh37]
Chr5:5q31.3 |
likely benign |
| NM_005219.5(DIAPH1):c.1641+13C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 1 [RCV005213826] |
Chr5:141574954 [GRCh38]
Chr5:140954521 [GRCh37]
Chr5:5q31.3 |
likely benign |
