NM_022124.6(CDH23):c.3717G>A (p.Gly1239=) |
single nucleotide variant |
not provided [RCV001412312] |
Chr10:71731988 [GRCh38] Chr10:73491745 [GRCh37] Chr10:10q22.1 |
likely benign |
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 |
copy number loss |
See cases [RCV000052530] |
Chr10:62229688..74468143 [GRCh38] Chr10:63989447..76227901 [GRCh37] Chr10:63659453..75897907 [NCBI36] Chr10:10q21.2-22.2 |
pathogenic |
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 |
copy number loss |
See cases [RCV000052511] |
Chr10:58436466..74415216 [GRCh38] Chr10:60196226..76174974 [GRCh37] Chr10:59866232..75844980 [NCBI36] Chr10:10q21.1-22.2 |
pathogenic |
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000376393]|Autosomal recessive nonsyndromic hearing loss 12 [RCV000764914]|CDH23-Related Disorders [RCV000285498]|Usher syndrome type 1 [RCV001271862]|Usher syndrome type 1D [RCV000324074]|not provided [RCV001041387]|not specified [RCV000039145] |
Chr10:71712706 [GRCh38] Chr10:73472463 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000406184]|CDH23-Related Disorders [RCV000351171]|Inborn genetic diseases [RCV003242971]|Usher syndrome type 1D [RCV000280070]|not provided [RCV000487639]|not specified [RCV000039147] |
Chr10:71712775 [GRCh38] Chr10:73472532 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3337G>C (p.Glu1113Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001271863]|not specified [RCV000039148] |
Chr10:71712781 [GRCh38] Chr10:73472538 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) |
single nucleotide variant |
Retinal dystrophy [RCV001075026]|Usher syndrome type 1 [RCV001272560]|not provided [RCV000724083]|not specified [RCV000039149] |
Chr10:71712805 [GRCh38] Chr10:73472562 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002483003]|Pituitary adenoma 5, multiple types [RCV003473275]|Usher syndrome type 1 [RCV001272885]|not provided [RCV001056228]|not specified [RCV000039151] |
Chr10:71724072 [GRCh38] Chr10:73483829 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002283447]|Hearing loss, autosomal recessive [RCV001291210]|Rare genetic deafness [RCV000039153]|not provided [RCV001852820] |
Chr10:71725422 [GRCh38] Chr10:73485179 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3486G>T (p.Gly1162=) |
single nucleotide variant |
not provided [RCV000976488]|not specified [RCV000039154] |
Chr10:71725427 [GRCh38] Chr10:73485184 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3550G>A (p.Asp1184Asn) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831661]|not provided [RCV001852821]|not specified [RCV000039155] |
Chr10:71725491 [GRCh38] Chr10:73485248 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3628C>T (p.Gln1210Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000039160] |
Chr10:71730517 [GRCh38] Chr10:73490274 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473276]|Rare genetic deafness [RCV000039163]|not provided [RCV000482326] |
Chr10:71730595 [GRCh38] Chr10:73490352 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105663]|Usher syndrome type 1D [RCV001105662]|not provided [RCV001044674]|not specified [RCV000039166] |
Chr10:71732166 [GRCh38] Chr10:73491923 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3925G>A (p.Glu1309Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831662]|not provided [RCV002513526]|not specified [RCV000039167] |
Chr10:71732196 [GRCh38] Chr10:73491953 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.5(CDH23):c.3431-116G>A |
single nucleotide variant |
Lung cancer [RCV000109329] |
Chr10:71725256 [GRCh38] Chr10:73485013 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) |
single nucleotide variant |
Hearing loss, autosomal recessive [RCV001291211]|Usher syndrome type 1D [RCV000005203]|not provided [RCV001386699] |
Chr10:71732151 [GRCh38] Chr10:73491908 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000005205]|Pituitary adenoma 5, multiple types [RCV003472977]|Usher syndrome type 1 [RCV001272891]|not provided [RCV000436619] |
Chr10:71732292 [GRCh38] Chr10:73492049 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000263856]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002490319]|Usher syndrome [RCV000787989]|Usher syndrome type 1 [RCV000217147]|Usher syndrome type 1D [RCV000005210]|not provided [RCV000086973]|not specified [RCV000039159] |
Chr10:71730514 [GRCh38] Chr10:73490271 [GRCh37] Chr10:10q22.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000382245]|Usher syndrome type 1 [RCV001826569]|Usher syndrome type 1D [RCV000325350]|not provided [RCV000967170]|not specified [RCV000039144] |
Chr10:71712693 [GRCh38] Chr10:73472450 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) |
single nucleotide variant |
Retinitis pigmentosa-deafness syndrome [RCV000988380]|Usher syndrome type 1 [RCV001272558]|not provided [RCV000755903]|not specified [RCV000039146] |
Chr10:71712737 [GRCh38] Chr10:73472494 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103614]|Usher syndrome type 1 [RCV001831660]|Usher syndrome type 1D [RCV001103613]|not provided [RCV000965142]|not specified [RCV000039150] |
Chr10:71712808 [GRCh38] Chr10:73472565 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105554]|Usher syndrome type 1D [RCV001105553]|not provided [RCV000891539]|not specified [RCV000039152] |
Chr10:71725421 [GRCh38] Chr10:73485178 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105557]|Usher syndrome type 1 [RCV001826570]|Usher syndrome type 1D [RCV001106699]|not provided [RCV000886092]|not specified [RCV000039156] |
Chr10:71725515 [GRCh38] Chr10:73485272 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.3580-12C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000310732]|Usher syndrome type 1D [RCV000362989]|not provided [RCV001513134]|not specified [RCV000039157] |
Chr10:71730457 [GRCh38] Chr10:73490214 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108865]|Usher syndrome type 1 [RCV001272887]|Usher syndrome type 1D [RCV001108864]|not provided [RCV000968181]|not specified [RCV000039158] |
Chr10:71730508 [GRCh38] Chr10:73490265 [GRCh37] Chr10:10q22.1 |
benign|uncertain significance |
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108867]|Usher syndrome type 1 [RCV001272888]|Usher syndrome type 1D [RCV001108866]|not provided [RCV000991775]|not specified [RCV000039161] |
Chr10:71730553 [GRCh38] Chr10:73490310 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103709]|Usher syndrome type 1 [RCV001272566]|Usher syndrome type 1D [RCV001103710]|not provided [RCV000723699]|not specified [RCV000039164] |
Chr10:71732072 [GRCh38] Chr10:73491829 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103711]|Meniere disease [RCV001797050]|Usher syndrome type 1 [RCV001272567]|Usher syndrome type 1D [RCV001103712]|not provided [RCV000950191]|not specified [RCV000039165] |
Chr10:71732116 [GRCh38] Chr10:73491873 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000764916]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105665]|Usher syndrome type 1 [RCV001831663]|Usher syndrome type 1D [RCV001105664]|not provided [RCV000726811]|not specified [RCV000039168] |
Chr10:71732257 [GRCh38] Chr10:73492014 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105666]|Usher syndrome type 1 [RCV001831664]|Usher syndrome type 1D [RCV001105667]|not provided [RCV000885396]|not specified [RCV000039169] |
Chr10:71732270 [GRCh38] Chr10:73492027 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106790]|Usher syndrome type 1 [RCV001831665]|Usher syndrome type 1D [RCV001106789]|not provided [RCV000892452]|not specified [RCV000039170] |
Chr10:71732316 [GRCh38] Chr10:73492073 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000345614]|Retinitis pigmentosa-deafness syndrome [RCV000397439]|Usher syndrome type 1 [RCV001272892]|Usher syndrome type 1D [RCV001094003]|not provided [RCV001516031]|not specified [RCV000039171] |
Chr10:71732322 [GRCh38] Chr10:73492079 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000358294]|Usher syndrome type 1 [RCV001831666]|Usher syndrome type 1D [RCV000305911]|not provided [RCV000827160]|not specified [RCV000039172] |
Chr10:71732339 [GRCh38] Chr10:73492096 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.3929C>A (p.Ala1310Asp) |
single nucleotide variant |
Usher syndrome type 1D [RCV000119815] |
Chr10:71732200 [GRCh38] Chr10:73491957 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4104+4A>T |
single nucleotide variant |
Usher syndrome type 1D [RCV000119816] |
Chr10:71732379 [GRCh38] Chr10:73492136 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4207-18T>C |
single nucleotide variant |
not provided [RCV001519569]|not specified [RCV000124193] |
Chr10:71734638 [GRCh38] Chr10:73494395 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4209+9C>T |
single nucleotide variant |
not provided [RCV001494137] |
Chr10:71734667 [GRCh38] Chr10:73494424 [GRCh37] Chr10:10q22.1 |
likely benign |
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 |
copy number gain |
See cases [RCV000134848] |
Chr10:42685306..73715908 [GRCh38] Chr10:43180754..75475666 [GRCh37] Chr10:42500760..75145672 [NCBI36] Chr10:10q11.21-22.2 |
pathogenic |
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 |
copy number gain |
See cases [RCV000135438] |
Chr10:67196567..79422057 [GRCh38] Chr10:68956325..81181813 [GRCh37] Chr10:68626331..80851819 [NCBI36] Chr10:10q21.3-22.3 |
pathogenic |
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 |
copy number loss |
See cases [RCV000136658] |
Chr10:63402579..75296099 [GRCh38] Chr10:65162339..77055857 [GRCh37] Chr10:64832345..76725863 [NCBI36] Chr10:10q21.3-22.2 |
pathogenic|likely benign |
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 |
copy number gain |
See cases [RCV000138007] |
Chr10:50729367..87147204 [GRCh38] Chr10:52489127..88906961 [GRCh37] Chr10:52159133..88896941 [NCBI36] Chr10:10q11.23-23.2 |
pathogenic |
NM_022124.6(CDH23):c.3503G>A (p.Arg1168Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826804]|not provided [RCV001222929]|not specified [RCV000150290] |
Chr10:71725444 [GRCh38] Chr10:73485201 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu) |
single nucleotide variant |
Retinal dystrophy [RCV001075173]|Usher syndrome type 1 [RCV001835686]|not provided [RCV001046427]|not specified [RCV000150288] |
Chr10:71712674 [GRCh38] Chr10:73472431 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3326C>T (p.Ala1109Val) |
single nucleotide variant |
not specified [RCV000155989] |
Chr10:71712770 [GRCh38] Chr10:73472527 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4104+22G>T |
single nucleotide variant |
not specified [RCV000150292] |
Chr10:71732397 [GRCh38] Chr10:73492154 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.5(CDH23):c.(?_3716)_(4146_?)del |
deletion |
Rare genetic deafness [RCV000156137] |
Chr10:71731987..71734281 [GRCh38] Chr10:73491744..73494038 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.4051= (p.Asn1351=) |
single nucleotide variant |
not specified [RCV000154336] |
Chr10:71732322 [GRCh38] Chr10:73492079 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3869C>T (p.Pro1290Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001831934]|not provided [RCV001045654]|not specified [RCV000150291] |
Chr10:71732140 [GRCh38] Chr10:73491897 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3580-13C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000350161]|Usher syndrome type 1D [RCV000394453]|not provided [RCV001510244]|not specified [RCV000155047] |
Chr10:71730456 [GRCh38] Chr10:73490213 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001107422]|Usher syndrome type 1D [RCV001107423]|not provided [RCV000827161]|not specified [RCV000155355] |
Chr10:71734338 [GRCh38] Chr10:73494095 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000764917]|Usher syndrome [RCV001171524]|Usher syndrome type 1 [RCV001831967]|not provided [RCV001239311]|not specified [RCV000155442] |
Chr10:71732271 [GRCh38] Chr10:73492028 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000338523]|Inborn genetic diseases [RCV003352781]|Usher syndrome type 1D [RCV000281132]|not provided [RCV000152947] |
Chr10:71712745 [GRCh38] Chr10:73472502 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4209+1G>T |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474807]|not provided [RCV000177808] |
Chr10:71734659 [GRCh38] Chr10:73494416 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del) |
microsatellite |
Usher syndrome type 1D [RCV000005199] |
Chr10:71732109..71732111 [GRCh38] Chr10:73491866..73491868 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3802G>A (p.Val1268Met) |
single nucleotide variant |
CDH23-related condition [RCV003398891]|Usher syndrome type 1 [RCV001826900]|not provided [RCV000177658]|not specified [RCV000825301] |
Chr10:71732073 [GRCh38] Chr10:73491830 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3299C>T (p.Pro1100Leu) |
single nucleotide variant |
not specified [RCV000222302] |
Chr10:71712743 [GRCh38] Chr10:73472500 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103612]|Usher syndrome type 1 [RCV001828064]|Usher syndrome type 1D [RCV001103611]|not provided [RCV001240604]|not specified [RCV000217626] |
Chr10:71712772 [GRCh38] Chr10:73472529 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4207-8G>T |
single nucleotide variant |
not provided [RCV001409249]|not specified [RCV000215606] |
Chr10:71734648 [GRCh38] Chr10:73494405 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4046G>A (p.Arg1349His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828063]|not provided [RCV001228297]|not specified [RCV000218480] |
Chr10:71732317 [GRCh38] Chr10:73492074 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3847G>A (p.Val1283Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272890]|not provided [RCV000513052]|not specified [RCV000216214] |
Chr10:71732118 [GRCh38] Chr10:73491875 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3566G>T (p.Arg1189Leu) |
single nucleotide variant |
not specified [RCV000221217] |
Chr10:71725507 [GRCh38] Chr10:73485264 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000295466]|Autosomal recessive nonsyndromic hearing loss 12 [RCV000764915]|CDH23-Related Disorders [RCV000373597]|Usher syndrome type 1 [RCV001272564]|Usher syndrome type 1D [RCV000316688]|not provided [RCV000766504]|not specified [RCV000223124] |
Chr10:71732010 [GRCh38] Chr10:73491767 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3431-6A>T |
single nucleotide variant |
Usher syndrome type 1 [RCV001272886]|not provided [RCV000727019]|not specified [RCV000221627] |
Chr10:71725366 [GRCh38] Chr10:73485123 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3370-29G>A |
single nucleotide variant |
not provided [RCV000837047]|not specified [RCV000248456] |
Chr10:71724016 [GRCh38] Chr10:73483773 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000389279]|CDH23-Related Disorders [RCV000273841]|Usher syndrome type 1D [RCV000332278]|not provided [RCV000903491] |
Chr10:71734314 [GRCh38] Chr10:73494071 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002470841]|Nonsyndromic Hearing Loss, Recessive [RCV000260791]|Retinitis pigmentosa-deafness syndrome [RCV000353292]|not provided [RCV002520616] |
Chr10:71734282 [GRCh38] Chr10:73494039 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000294260]|CDH23-Related Disorders [RCV000386177]|Usher syndrome type 1D [RCV000352687]|not provided [RCV001425757] |
Chr10:71732186 [GRCh38] Chr10:73491943 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_001164375.3(C10orf105):c.*3111C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000404267]|Usher syndrome type 1D [RCV000311695]|not provided [RCV001403346]|not specified [RCV000611678] |
Chr10:71712825 [GRCh38] Chr10:73472582 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4103C>T (p.Thr1368Met) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000300732]|Usher syndrome type 1D [RCV000265935]|not provided [RCV002520615] |
Chr10:71732374 [GRCh38] Chr10:73492131 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3613G>T (p.Ala1205Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000304966]|CDH23-Related Disorders [RCV000361962]|Usher syndrome type 1D [RCV000270828] |
Chr10:71730502 [GRCh38] Chr10:73490259 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3784A>C (p.Thr1262Pro) |
single nucleotide variant |
not provided [RCV000285550] |
Chr10:71732055 [GRCh38] Chr10:73491812 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3614C>T (p.Ala1205Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000373739]|CDH23-Related Disorders [RCV000265055]|Usher syndrome type 1D [RCV000322537] |
Chr10:71730503 [GRCh38] Chr10:73490260 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103713]|Usher syndrome type 1D [RCV001103714]|not provided [RCV000291847] |
Chr10:71732123 [GRCh38] Chr10:73491880 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3486G>C (p.Gly1162=) |
single nucleotide variant |
not provided [RCV000262260] |
Chr10:71725427 [GRCh38] Chr10:73485184 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4070A>G (p.Gln1357Arg) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277729]|not provided [RCV001880239] |
Chr10:71732341 [GRCh38] Chr10:73492098 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272565]|not provided [RCV000489371] |
Chr10:71732035 [GRCh38] Chr10:73491792 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002486027]|Usher syndrome type 1 [RCV001277722]|not provided [RCV002537768] |
Chr10:71712774 [GRCh38] Chr10:73472531 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3972G>A (p.Glu1324=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277727] |
Chr10:71732243 [GRCh38] Chr10:73492000 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4116A>G (p.Thr1372=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277730]|not provided [RCV001470291] |
Chr10:71734251 [GRCh38] Chr10:73494008 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3839T>A (p.Met1280Lys) |
single nucleotide variant |
not provided [RCV000595308] |
Chr10:71732110 [GRCh38] Chr10:73491867 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4005C>G (p.Val1335=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000346648]|CDH23-Related Disorders [RCV000402686]|Usher syndrome type 1D [RCV000307044]|not provided [RCV002059557] |
Chr10:71732276 [GRCh38] Chr10:73492033 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835860]|not provided [RCV000592156] |
Chr10:71732195 [GRCh38] Chr10:73491952 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3575_3576delinsGT (p.Val1192Gly) |
indel |
not provided [RCV000599331] |
Chr10:71725516..71725517 [GRCh38] Chr10:73485273..73485274 [GRCh37] Chr10:10q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3916G>C (p.Glu1306Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002535204]|not provided [RCV000731338] |
Chr10:71732187 [GRCh38] Chr10:73491944 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273539]|not provided [RCV000732329] |
Chr10:71732198 [GRCh38] Chr10:73491955 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3221-2A>G |
single nucleotide variant |
not provided [RCV000731523] |
Chr10:71712663 [GRCh38] Chr10:73472420 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3477G>C (p.Leu1159=) |
single nucleotide variant |
not provided [RCV000734017] |
Chr10:71725418 [GRCh38] Chr10:73485175 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 |
copy number gain |
See cases [RCV000448750] |
Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_022124.6(CDH23):c.3250G>T (p.Gly1084Cys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001834562]|not provided [RCV000485994] |
Chr10:71712694 [GRCh38] Chr10:73472451 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV000504588]|not specified [RCV003317244] |
Chr10:71734271 [GRCh38] Chr10:73494028 [GRCh37] Chr10:10q22.1 |
pathogenic|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) |
copy number gain |
See cases [RCV000511389] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_022124.6(CDH23):c.3950C>T (p.Ser1317Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003291770] |
Chr10:71732221 [GRCh38] Chr10:73491978 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624916]|Usher syndrome type 1 [RCV001834974]|Usher syndrome type 1D [RCV001805224]|not provided [RCV001386697] |
Chr10:71712685 [GRCh38] Chr10:73472442 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3408T>A (p.Arg1136=) |
single nucleotide variant |
not provided [RCV001442648]|not specified [RCV000610175] |
Chr10:71724083 [GRCh38] Chr10:73483840 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+44C>T |
single nucleotide variant |
not specified [RCV000610905] |
Chr10:71732419 [GRCh38] Chr10:73492176 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3684C>G (p.Val1228=) |
single nucleotide variant |
not provided [RCV000596882] |
Chr10:71730573 [GRCh38] Chr10:73490330 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] |
Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
NM_022124.6(CDH23):c.3428dup (p.His1143fs) |
duplication |
Usher syndrome type 1D [RCV000678532] |
Chr10:71724102..71724103 [GRCh38] Chr10:73483859..73483860 [GRCh37] Chr10:10q22.1 |
pathogenic |
GRCh37/hg19 10q22.1(chr10:73321268-73554051)x1 |
copy number loss |
not provided [RCV000683208] |
Chr10:73321268..73554051 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3929C>T (p.Ala1310Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000678986] |
Chr10:71732200 [GRCh38] Chr10:73491957 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 |
copy number gain |
not provided [RCV000683289] |
Chr10:69040366..93194993 [GRCh37] Chr10:10q21.3-23.32 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 |
copy number gain |
not provided [RCV000749464] |
Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 |
copy number gain |
not provided [RCV000749465] |
Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_022124.6(CDH23):c.3431-133T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533772]|Usher syndrome type 1D [RCV001533771]|not provided [RCV001725225] |
Chr10:71725239 [GRCh38] Chr10:73484996 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.4183G>A (p.Gly1395Ser) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001559298]|Usher syndrome type 1D [RCV001559299] |
Chr10:71734318 [GRCh38] Chr10:73494075 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3488C>G (p.Pro1163Arg) |
single nucleotide variant |
not provided [RCV000994439] |
Chr10:71725429 [GRCh38] Chr10:73485186 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_001164375.3(C10orf105):c.*3278G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001272556]|not provided [RCV000982523] |
Chr10:71712658 [GRCh38] Chr10:73472415 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3438T>C (p.His1146=) |
single nucleotide variant |
not provided [RCV001462722]|not specified [RCV000825127] |
Chr10:71725379 [GRCh38] Chr10:73485136 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3305T>A (p.Phe1102Tyr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830831]|not specified [RCV000825297] |
Chr10:71712749 [GRCh38] Chr10:73472506 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3712T>G (p.Ser1238Ala) |
single nucleotide variant |
Usher syndrome type 1 [RCV001830843]|not provided [RCV001371495]|not specified [RCV000825888] |
Chr10:71730601 [GRCh38] Chr10:73490358 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4128G>C (p.Leu1376=) |
single nucleotide variant |
not provided [RCV002067405]|not specified [RCV000825124] |
Chr10:71734263 [GRCh38] Chr10:73494020 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3537G>A (p.Glu1179=) |
single nucleotide variant |
not provided [RCV000927842] |
Chr10:71725478 [GRCh38] Chr10:73485235 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3716-8T>C |
single nucleotide variant |
not provided [RCV000927863] |
Chr10:71731979 [GRCh38] Chr10:73491736 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3353del (p.Gly1118fs) |
deletion |
Usher syndrome type 1D [RCV001544524] |
Chr10:71712796 [GRCh38] Chr10:73472553 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3899A>G (p.Tyr1300Cys) |
single nucleotide variant |
not provided [RCV001045307] |
Chr10:71732170 [GRCh38] Chr10:73491927 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3248C>T (p.Thr1083Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272557]|not provided [RCV001046321] |
Chr10:71712692 [GRCh38] Chr10:73472449 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4136G>A (p.Arg1379His) |
single nucleotide variant |
Usher syndrome type 1 [RCV001833614]|not provided [RCV001062558] |
Chr10:71734271 [GRCh38] Chr10:73494028 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4206+5G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001836070]|not provided [RCV001035474] |
Chr10:71734346 [GRCh38] Chr10:73494103 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3688G>A (p.Val1230Met) |
single nucleotide variant |
Usher syndrome [RCV003389483]|Usher syndrome type 1 [RCV001272889]|not provided [RCV001049323] |
Chr10:71730577 [GRCh38] Chr10:73490334 [GRCh37] Chr10:10q22.1 |
likely pathogenic|uncertain significance |
NM_022124.6(CDH23):c.3342C>T (p.Asp1114=) |
single nucleotide variant |
not provided [RCV000978618] |
Chr10:71712786 [GRCh38] Chr10:73472543 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4146C>T (p.Gly1382=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273541]|not provided [RCV000899174] |
Chr10:71734281 [GRCh38] Chr10:73494038 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3684C>T (p.Val1228=) |
single nucleotide variant |
not provided [RCV000920807] |
Chr10:71730573 [GRCh38] Chr10:73490330 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3285G>C (p.Val1095=) |
single nucleotide variant |
not provided [RCV000977402] |
Chr10:71712729 [GRCh38] Chr10:73472486 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3609T>C (p.Asp1203=) |
single nucleotide variant |
not provided [RCV000919548] |
Chr10:71730498 [GRCh38] Chr10:73490255 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV000770812] |
Chr10:71725521 [GRCh38] Chr10:73485278 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3231T>G (p.Pro1077=) |
single nucleotide variant |
not provided [RCV000841837] |
Chr10:71712675 [GRCh38] Chr10:73472432 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT |
indel |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002501059]|not provided [RCV000797837] |
Chr10:71734236..71734238 [GRCh38] Chr10:73493993..73493995 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3352G>A (p.Gly1118Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272559]|not provided [RCV000915870] |
Chr10:71712796 [GRCh38] Chr10:73472553 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4206+131T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001554728]|Pituitary adenoma 5, multiple types [RCV001554730]|Usher syndrome type 1D [RCV001554729]|not provided [RCV000838378] |
Chr10:71734472 [GRCh38] Chr10:73494229 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3331G>T (p.Val1111Phe) |
single nucleotide variant |
Vitreoretinopathy [RCV000787807] |
Chr10:71712775 [GRCh38] Chr10:73472532 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4206+61T>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533588]|Usher syndrome type 1D [RCV001533587]|not provided [RCV000829476] |
Chr10:71734402 [GRCh38] Chr10:73494159 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4105-7C>T |
single nucleotide variant |
not provided [RCV000894932] |
Chr10:71734233 [GRCh38] Chr10:73493990 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001164375.3(C10orf105):c.*2825G>C |
single nucleotide variant |
not provided [RCV000840300] |
Chr10:71713111 [GRCh38] Chr10:73472868 [GRCh37] Chr10:10q22.1 |
benign |
NM_001164375.3(C10orf105):c.*2811G>A |
single nucleotide variant |
not provided [RCV000840301] |
Chr10:71713125 [GRCh38] Chr10:73472882 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3486G>A (p.Gly1162=) |
single nucleotide variant |
not provided [RCV000977795] |
Chr10:71725427 [GRCh38] Chr10:73485184 [GRCh37] Chr10:10q22.1 |
likely benign |
NC_000010.11:g.71724016G>A |
single nucleotide variant |
not provided [RCV000837047] |
Chr10:73483773 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4011C>A (p.Ala1337=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832281]|not provided [RCV000981049] |
Chr10:71732282 [GRCh38] Chr10:73492039 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3522C>T (p.His1174=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272563]|not provided [RCV000942877] |
Chr10:71725463 [GRCh38] Chr10:73485220 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3819C>T (p.Tyr1273=) |
single nucleotide variant |
not provided [RCV000896025] |
Chr10:71732090 [GRCh38] Chr10:73491847 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3370-46T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533766]|Usher syndrome type 1D [RCV001533765]|not provided [RCV000835780] |
Chr10:71723999 [GRCh38] Chr10:73483756 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4104+15del |
deletion |
not provided [RCV001170027] |
Chr10:71732386 [GRCh38] Chr10:73492143 [GRCh37] Chr10:10q22.1 |
pathogenic|conflicting interpretations of pathogenicity |
NM_022124.6(CDH23):c.3482G>A (p.Arg1161Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835143]|not provided [RCV001242901] |
Chr10:71725423 [GRCh38] Chr10:73485180 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3579+3G>A |
single nucleotide variant |
Usher syndrome type 1 [RCV001829013]|not provided [RCV001243085] |
Chr10:71725523 [GRCh38] Chr10:73485280 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3592G>A (p.Val1198Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835159]|not provided [RCV001243193] |
Chr10:71730481 [GRCh38] Chr10:73490238 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3707G>A (p.Arg1236Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828979]|not provided [RCV001241542] |
Chr10:71730596 [GRCh38] Chr10:73490353 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.3730G>A (p.Val1244Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001834063]|not provided [RCV001238264] |
Chr10:71732001 [GRCh38] Chr10:73491758 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4096G>A (p.Ala1366Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828903]|not provided [RCV001238589] |
Chr10:71732367 [GRCh38] Chr10:73492124 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3431-8C>A |
single nucleotide variant |
not provided [RCV001242363] |
Chr10:71725364 [GRCh38] Chr10:73485121 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3580-19C>T |
single nucleotide variant |
not provided [RCV003109172] |
Chr10:71730450 [GRCh38] Chr10:73490207 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4105-160C>T |
single nucleotide variant |
not provided [RCV001708578] |
Chr10:71734080 [GRCh38] Chr10:73493837 [GRCh37] Chr10:10q22.1 |
benign |
NM_001164375.3(C10orf105):c.*3065G>A |
single nucleotide variant |
not provided [RCV001645583] |
Chr10:71712871 [GRCh38] Chr10:73472628 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3580-11G>A |
single nucleotide variant |
not provided [RCV001557400] |
Chr10:71730458 [GRCh38] Chr10:73490215 [GRCh37] Chr10:10q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.4209+334G>A |
single nucleotide variant |
not provided [RCV001577785] |
Chr10:71734992 [GRCh38] Chr10:73494749 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3580-240A>G |
single nucleotide variant |
not provided [RCV001620749] |
Chr10:71730229 [GRCh38] Chr10:73489986 [GRCh37] Chr10:10q22.1 |
benign |
NM_001164375.3(C10orf105):c.*3000C>T |
single nucleotide variant |
not provided [RCV001694514] |
Chr10:71712936 [GRCh38] Chr10:73472693 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4209+126G>A |
single nucleotide variant |
not provided [RCV001547769] |
Chr10:71734784 [GRCh38] Chr10:73494541 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3597G>T (p.Glu1199Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003286993] |
Chr10:71730486 [GRCh38] Chr10:73490243 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4095C>T (p.Asp1365=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001825822]|not provided [RCV000904887] |
Chr10:71732366 [GRCh38] Chr10:73492123 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3381G>T (p.Thr1127=) |
single nucleotide variant |
not provided [RCV000931970] |
Chr10:71724056 [GRCh38] Chr10:73483813 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+7G>A |
single nucleotide variant |
not provided [RCV000980798] |
Chr10:71732382 [GRCh38] Chr10:73492139 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4040C>T (p.Thr1347Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001273540]|not provided [RCV001063308] |
Chr10:71732311 [GRCh38] Chr10:73492068 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4190A>G (p.Lys1397Arg) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828819]|not provided [RCV001227986] |
Chr10:71734325 [GRCh38] Chr10:73494082 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3607G>A (p.Asp1203Asn) |
single nucleotide variant |
not provided [RCV003237037] |
Chr10:71730496 [GRCh38] Chr10:73490253 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4105-183G>C |
single nucleotide variant |
not provided [RCV001596680] |
Chr10:71734057 [GRCh38] Chr10:73493814 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3370-157C>T |
single nucleotide variant |
not provided [RCV001688964] |
Chr10:71723888 [GRCh38] Chr10:73483645 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3430+186T>C |
single nucleotide variant |
not provided [RCV001656115] |
Chr10:71724291 [GRCh38] Chr10:73484048 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3820G>A (p.Glu1274Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001827524]|not provided [RCV001593418] |
Chr10:71732091 [GRCh38] Chr10:73491848 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3579+185C>T |
single nucleotide variant |
not provided [RCV001616854] |
Chr10:71725705 [GRCh38] Chr10:73485462 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3715+320G>A |
single nucleotide variant |
not provided [RCV001614695] |
Chr10:71730924 [GRCh38] Chr10:73490681 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105552]|Usher syndrome type 1D [RCV001105551]|not specified [RCV001779117] |
Chr10:71724082 [GRCh38] Chr10:73483839 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3493C>T (p.Pro1165Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828516]|not provided [RCV001069304] |
Chr10:71725434 [GRCh38] Chr10:73485191 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3452G>A (p.Arg1151Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272561]|not provided [RCV001069568] |
Chr10:71725393 [GRCh38] Chr10:73485150 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3678G>A (p.Thr1226=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001108869]|Usher syndrome type 1D [RCV001108868]|not provided [RCV001432389] |
Chr10:71730567 [GRCh38] Chr10:73490324 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3431-189C>G |
single nucleotide variant |
not provided [RCV001669345] |
Chr10:71725183 [GRCh38] Chr10:73484940 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4209+99G>A |
single nucleotide variant |
not provided [RCV001680939] |
Chr10:71734757 [GRCh38] Chr10:73494514 [GRCh37] Chr10:10q22.1 |
benign |
NM_001164375.3(C10orf105):c.*2854C>T |
single nucleotide variant |
not provided [RCV001582192] |
Chr10:71713082 [GRCh38] Chr10:73472839 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3370-253C>T |
single nucleotide variant |
not provided [RCV001679170] |
Chr10:71723792 [GRCh38] Chr10:73483549 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.4105-2A>T |
single nucleotide variant |
Usher syndrome type 1 [RCV001199451] |
Chr10:71734238 [GRCh38] Chr10:73493995 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3369+1G>A |
single nucleotide variant |
Retinal dystrophy [RCV001073483] |
Chr10:71712814 [GRCh38] Chr10:73472571 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3523G>T (p.Val1175Leu) |
single nucleotide variant |
Usher syndrome type 1 [RCV001835285]|not provided [RCV001246906] |
Chr10:71725464 [GRCh38] Chr10:73485221 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4054G>A (p.Ala1352Thr) |
single nucleotide variant |
Usher syndrome type 1 [RCV001832368]|not provided [RCV001035064] |
Chr10:71732325 [GRCh38] Chr10:73492082 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3242G>A (p.Arg1081Gln) |
single nucleotide variant |
not provided [RCV001045183] |
Chr10:71712686 [GRCh38] Chr10:73472443 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3468T>G (p.Asn1156Lys) |
single nucleotide variant |
Usher syndrome type 1 [RCV001828704]|not provided [RCV001213546] |
Chr10:71725409 [GRCh38] Chr10:73485166 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3547C>A (p.His1183Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105556]|Usher syndrome type 1D [RCV001105555]|not provided [RCV001856418] |
Chr10:71725488 [GRCh38] Chr10:73485245 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4182C>T (p.Gly1394=) |
single nucleotide variant |
not provided [RCV001232015] |
Chr10:71734317 [GRCh38] Chr10:73494074 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3508C>T (p.Arg1170Trp) |
single nucleotide variant |
Usher syndrome type 1 [RCV001272562]|not provided [RCV001069819] |
Chr10:71725449 [GRCh38] Chr10:73485206 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4004T>C (p.Val1335Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002250737]|Usher syndrome type 1 [RCV001835323]|not provided [RCV001248128] |
Chr10:71732275 [GRCh38] Chr10:73492032 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3883G>A (p.Gly1295Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002553052]|not provided [RCV001039131] |
Chr10:71732154 [GRCh38] Chr10:73491911 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3864G>T (p.Gln1288His) |
single nucleotide variant |
not provided [RCV001215352] |
Chr10:71732135 [GRCh38] Chr10:73491892 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3445A>G (p.Asn1149Asp) |
single nucleotide variant |
Hearing impairment [RCV001375322]|Usher syndrome type 1 [RCV001828692]|not provided [RCV001211824] |
Chr10:71725386 [GRCh38] Chr10:73485143 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3417C>A (p.Tyr1139Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001075253] |
Chr10:71724092 [GRCh38] Chr10:73483849 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3908T>G (p.Leu1303Arg) |
single nucleotide variant |
not provided [RCV001996348] |
Chr10:71732179 [GRCh38] Chr10:73491936 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3580-14C>T |
single nucleotide variant |
not provided [RCV001349390] |
Chr10:71730455 [GRCh38] Chr10:73490212 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3491G>A (p.Arg1164Gln) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277725]|not provided [RCV001298735] |
Chr10:71725432 [GRCh38] Chr10:73485189 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3695A>G (p.Gln1232Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003353270]|Usher syndrome type 1 [RCV001277726]|not provided [RCV001880238] |
Chr10:71730584 [GRCh38] Chr10:73490341 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3605A>G (p.Asn1202Ser) |
single nucleotide variant |
not provided [RCV001300814] |
Chr10:71730494 [GRCh38] Chr10:73490251 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4180G>T (p.Gly1394Cys) |
single nucleotide variant |
not provided [RCV001352016] |
Chr10:71734315 [GRCh38] Chr10:73494072 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3351A>G (p.Glu1117=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277723]|not provided [RCV001437466] |
Chr10:71712795 [GRCh38] Chr10:73472552 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.4056C>T (p.Ala1352=) |
single nucleotide variant |
not provided [RCV001422308] |
Chr10:71732327 [GRCh38] Chr10:73492084 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+8G>C |
single nucleotide variant |
not provided [RCV001414542] |
Chr10:71732383 [GRCh38] Chr10:73492140 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3523G>A (p.Val1175Met) |
single nucleotide variant |
Usher syndrome type 1 [RCV001826097]|not provided [RCV001371399] |
Chr10:71725464 [GRCh38] Chr10:73485221 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3968T>C (p.Leu1323Pro) |
single nucleotide variant |
not provided [RCV001373848] |
Chr10:71732239 [GRCh38] Chr10:73491996 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3467A>G (p.Asn1156Ser) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277724]|not provided [RCV001880237] |
Chr10:71725408 [GRCh38] Chr10:73485165 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4041G>C (p.Thr1347=) |
single nucleotide variant |
Usher syndrome type 1 [RCV001277728]|not provided [RCV002537769] |
Chr10:71732312 [GRCh38] Chr10:73492069 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3832A>C (p.Ser1278Arg) |
single nucleotide variant |
not provided [RCV001341416] |
Chr10:71732103 [GRCh38] Chr10:73491860 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3472C>A (p.Leu1158Ile) |
single nucleotide variant |
not provided [RCV001327043] |
Chr10:71725413 [GRCh38] Chr10:73485170 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3226G>C (p.Gly1076Arg) |
single nucleotide variant |
not provided [RCV001311710] |
Chr10:71712670 [GRCh38] Chr10:73472427 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3591C>T (p.Tyr1197=) |
single nucleotide variant |
not provided [RCV001412364] |
Chr10:71730480 [GRCh38] Chr10:73490237 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3777C>T (p.Asp1259=) |
single nucleotide variant |
not provided [RCV001494484] |
Chr10:71732048 [GRCh38] Chr10:73491805 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4125C>T (p.Gly1375=) |
single nucleotide variant |
not provided [RCV001412810] |
Chr10:71734260 [GRCh38] Chr10:73494017 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3685A>T (p.Ile1229Phe) |
single nucleotide variant |
not provided [RCV001315768] |
Chr10:71730574 [GRCh38] Chr10:73490331 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4044C>T (p.Tyr1348=) |
single nucleotide variant |
not provided [RCV001395529] |
Chr10:71732315 [GRCh38] Chr10:73492072 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3852G>C (p.Ser1284=) |
single nucleotide variant |
not provided [RCV001485281] |
Chr10:71732123 [GRCh38] Chr10:73491880 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3573C>T (p.Ser1191=) |
single nucleotide variant |
not provided [RCV001468076] |
Chr10:71725514 [GRCh38] Chr10:73485271 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3546C>T (p.Asn1182=) |
single nucleotide variant |
not provided [RCV001450800] |
Chr10:71725487 [GRCh38] Chr10:73485244 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3774T>A (p.Ile1258=) |
single nucleotide variant |
not provided [RCV001416929] |
Chr10:71732045 [GRCh38] Chr10:73491802 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3870G>A (p.Pro1290=) |
single nucleotide variant |
not provided [RCV001427886] |
Chr10:71732141 [GRCh38] Chr10:73491898 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-9T>C |
single nucleotide variant |
not provided [RCV001427946] |
Chr10:71725363 [GRCh38] Chr10:73485120 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4041G>A (p.Thr1347=) |
single nucleotide variant |
not provided [RCV001461874] |
Chr10:71732312 [GRCh38] Chr10:73492069 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3753C>T (p.Gly1251=) |
single nucleotide variant |
not provided [RCV001457971] |
Chr10:71732024 [GRCh38] Chr10:73491781 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3993G>A (p.Glu1331=) |
single nucleotide variant |
not provided [RCV001505295] |
Chr10:71732264 [GRCh38] Chr10:73492021 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+9C>T |
single nucleotide variant |
not provided [RCV001469092] |
Chr10:71732384 [GRCh38] Chr10:73492141 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4105-4G>A |
single nucleotide variant |
not provided [RCV001471717] |
Chr10:71734236 [GRCh38] Chr10:73493993 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3528G>C (p.Leu1176=) |
single nucleotide variant |
not provided [RCV001462909] |
Chr10:71725469 [GRCh38] Chr10:73485226 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3867C>T (p.Ala1289=) |
single nucleotide variant |
not provided [RCV001442443] |
Chr10:71732138 [GRCh38] Chr10:73491895 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4149C>T (p.Asp1383=) |
single nucleotide variant |
not provided [RCV001437525] |
Chr10:71734284 [GRCh38] Chr10:73494041 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3267C>T (p.Phe1089=) |
single nucleotide variant |
not provided [RCV001481435] |
Chr10:71712711 [GRCh38] Chr10:73472468 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3687C>T (p.Ile1229=) |
single nucleotide variant |
not provided [RCV001484906] |
Chr10:71730576 [GRCh38] Chr10:73490333 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001164375.3(C10orf105):c.*3112G>A |
single nucleotide variant |
not provided [RCV001439543] |
Chr10:71712824 [GRCh38] Chr10:73472581 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4053C>T (p.Asn1351=) |
single nucleotide variant |
not provided [RCV001440944] |
Chr10:71732324 [GRCh38] Chr10:73492081 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4110G>A (p.Val1370=) |
single nucleotide variant |
not provided [RCV001397815] |
Chr10:71734245 [GRCh38] Chr10:73494002 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3606C>T (p.Asn1202=) |
single nucleotide variant |
not provided [RCV001424859] |
Chr10:71730495 [GRCh38] Chr10:73490252 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3261C>T (p.Thr1087=) |
single nucleotide variant |
not provided [RCV001399278] |
Chr10:71712705 [GRCh38] Chr10:73472462 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3228C>G (p.Gly1076=) |
single nucleotide variant |
not provided [RCV001449092] |
Chr10:71712672 [GRCh38] Chr10:73472429 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4137T>C (p.Arg1379=) |
single nucleotide variant |
not provided [RCV001407561] |
Chr10:71734272 [GRCh38] Chr10:73494029 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3457del (p.His1153fs) |
deletion |
not provided [RCV001380529] |
Chr10:71725397 [GRCh38] Chr10:73485154 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3330C>T (p.Ser1110=) |
single nucleotide variant |
not provided [RCV001449461] |
Chr10:71712774 [GRCh38] Chr10:73472531 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3954C>T (p.Tyr1318=) |
single nucleotide variant |
not provided [RCV001426059] |
Chr10:71732225 [GRCh38] Chr10:73491982 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4206+1G>A |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473915]|Usher syndrome type 1 [RCV001826148]|not provided [RCV001379081] |
Chr10:71734342 [GRCh38] Chr10:73494099 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4000C>A (p.Arg1334=) |
single nucleotide variant |
not provided [RCV001428821] |
Chr10:71732271 [GRCh38] Chr10:73492028 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003473970]|not provided [RCV001386698] |
Chr10:71730544 [GRCh38] Chr10:73490301 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3318C>T (p.Ser1106=) |
single nucleotide variant |
not provided [RCV001431239] |
Chr10:71712762 [GRCh38] Chr10:73472519 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3528G>A (p.Leu1176=) |
single nucleotide variant |
not provided [RCV001426669] |
Chr10:71725469 [GRCh38] Chr10:73485226 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3430+114T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533768]|Usher syndrome type 1D [RCV001533767]|not provided [RCV001655826] |
Chr10:71724219 [GRCh38] Chr10:73483976 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3431-205A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001533770]|Usher syndrome type 1D [RCV001533769]|not provided [RCV001673145] |
Chr10:71725167 [GRCh38] Chr10:73484924 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.3651del (p.Leu1218fs) |
deletion |
not provided [RCV001390487] |
Chr10:71730537 [GRCh38] Chr10:73490294 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3987T>C (p.Gly1329=) |
single nucleotide variant |
not provided [RCV001431695] |
Chr10:71732258 [GRCh38] Chr10:73492015 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3783C>T (p.Ser1261=) |
single nucleotide variant |
not provided [RCV001436583] |
Chr10:71732054 [GRCh38] Chr10:73491811 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4207-10C>T |
single nucleotide variant |
not provided [RCV001427151] |
Chr10:71734646 [GRCh38] Chr10:73494403 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001164375.3(C10orf105):c.*3280G>A |
single nucleotide variant |
not provided [RCV001408740] |
Chr10:71712656 [GRCh38] Chr10:73472413 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3285G>T (p.Val1095=) |
single nucleotide variant |
not provided [RCV001408551] |
Chr10:71712729 [GRCh38] Chr10:73472486 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3324G>A (p.Glu1108=) |
single nucleotide variant |
not provided [RCV001408554] |
Chr10:71712768 [GRCh38] Chr10:73472525 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3381G>A (p.Thr1127=) |
single nucleotide variant |
not provided [RCV001419543] |
Chr10:71724056 [GRCh38] Chr10:73483813 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-11C>A |
single nucleotide variant |
not provided [RCV001438181] |
Chr10:71725361 [GRCh38] Chr10:73485118 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3240G>A (p.Lys1080=) |
single nucleotide variant |
not provided [RCV001448616] |
Chr10:71712684 [GRCh38] Chr10:73472441 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3384C>T (p.Asp1128=) |
single nucleotide variant |
not provided [RCV001467714] |
Chr10:71724059 [GRCh38] Chr10:73483816 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3633G>A (p.Gln1211=) |
single nucleotide variant |
not provided [RCV001472638] |
Chr10:71730522 [GRCh38] Chr10:73490279 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4050_4051inv (p.Asn1351Asp) |
inversion |
not provided [RCV001478936] |
Chr10:71732321..71732322 [GRCh38] Chr10:73492078..73492079 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3459T>C (p.His1153=) |
single nucleotide variant |
not provided [RCV001458894] |
Chr10:71725400 [GRCh38] Chr10:73485157 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4207-125G>A |
single nucleotide variant |
not provided [RCV001655123] |
Chr10:71734531 [GRCh38] Chr10:73494288 [GRCh37] Chr10:10q22.1 |
benign |
NM_022124.6(CDH23):c.3431-5C>A |
single nucleotide variant |
not provided [RCV001452334] |
Chr10:71725367 [GRCh38] Chr10:73485124 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3225C>T (p.Asn1075=) |
single nucleotide variant |
not provided [RCV001455972] |
Chr10:71712669 [GRCh38] Chr10:73472426 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3747G>A (p.Leu1249=) |
single nucleotide variant |
not provided [RCV001501229] |
Chr10:71732018 [GRCh38] Chr10:73491775 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3894C>T (p.Ser1298=) |
single nucleotide variant |
not provided [RCV001470155] |
Chr10:71732165 [GRCh38] Chr10:73491922 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4206+9G>C |
single nucleotide variant |
not provided [RCV001473553] |
Chr10:71734350 [GRCh38] Chr10:73494107 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4185C>T (p.Gly1395=) |
single nucleotide variant |
not provided [RCV001462805] |
Chr10:71734320 [GRCh38] Chr10:73494077 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3663C>T (p.Thr1221=) |
single nucleotide variant |
not provided [RCV001458827] |
Chr10:71730552 [GRCh38] Chr10:73490309 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4020C>T (p.Ile1340=) |
single nucleotide variant |
not provided [RCV001501990] |
Chr10:71732291 [GRCh38] Chr10:73492048 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3900C>T (p.Tyr1300=) |
single nucleotide variant |
not provided [RCV001499070] |
Chr10:71732171 [GRCh38] Chr10:73491928 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3399G>A (p.Glu1133=) |
single nucleotide variant |
not provided [RCV001427593] |
Chr10:71724074 [GRCh38] Chr10:73483831 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3660G>A (p.Glu1220=) |
single nucleotide variant |
not provided [RCV001393364] |
Chr10:71730549 [GRCh38] Chr10:73490306 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-7C>T |
single nucleotide variant |
not provided [RCV001392871] |
Chr10:71725365 [GRCh38] Chr10:73485122 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3549C>T (p.His1183=) |
single nucleotide variant |
not provided [RCV001496810] |
Chr10:71725490 [GRCh38] Chr10:73485247 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3447C>T (p.Asn1149=) |
single nucleotide variant |
not provided [RCV001398144] |
Chr10:71725388 [GRCh38] Chr10:73485145 [GRCh37] Chr10:10q22.1 |
likely benign |
NC_000010.10:g.(?_73199579)_(73501688_?)del |
deletion |
not provided [RCV001383845] |
Chr10:73199579..73501688 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3431-4A>C |
single nucleotide variant |
not provided [RCV001480760] |
Chr10:71725368 [GRCh38] Chr10:73485125 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3618C>T (p.Pro1206=) |
single nucleotide variant |
not provided [RCV001437342] |
Chr10:71730507 [GRCh38] Chr10:73490264 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3339G>A (p.Glu1113=) |
single nucleotide variant |
not provided [RCV001468123] |
Chr10:71712783 [GRCh38] Chr10:73472540 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3405G>A (p.Gly1135=) |
single nucleotide variant |
not provided [RCV001452535] |
Chr10:71724080 [GRCh38] Chr10:73483837 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3967C>T (p.Leu1323=) |
single nucleotide variant |
not provided [RCV001468308] |
Chr10:71732238 [GRCh38] Chr10:73491995 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4140G>A (p.Glu1380=) |
single nucleotide variant |
not provided [RCV001426715] |
Chr10:71734275 [GRCh38] Chr10:73494032 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-19G>A |
single nucleotide variant |
not provided [RCV001428353] |
Chr10:71725353 [GRCh38] Chr10:73485110 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-1G>A |
single nucleotide variant |
Usher syndrome type 1D [RCV002250926] |
Chr10:71725371 [GRCh38] Chr10:73485128 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3842T>C (p.Met1281Thr) |
single nucleotide variant |
not provided [RCV001760987] |
Chr10:71732113 [GRCh38] Chr10:73491870 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3366G>T (p.Leu1122Phe) |
single nucleotide variant |
not provided [RCV001752699] |
Chr10:71712810 [GRCh38] Chr10:73472567 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4051_4053delinsGAT (p.Asn1351Asp) |
indel |
not provided [RCV003321438] |
Chr10:71732322..71732324 [GRCh38] Chr10:73492079..73492081 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3492del (p.Leu1166fs) |
deletion |
Ear malformation [RCV001814325] |
Chr10:71725432 [GRCh38] Chr10:73485189 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4104+1G>T |
single nucleotide variant |
not provided [RCV001822119] |
Chr10:71732376 [GRCh38] Chr10:73492133 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3347C>T (p.Pro1116Leu) |
single nucleotide variant |
not provided [RCV001971068] |
Chr10:71712791 [GRCh38] Chr10:73472548 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3295C>T (p.Arg1099Trp) |
single nucleotide variant |
not provided [RCV001985288] |
Chr10:71712739 [GRCh38] Chr10:73472496 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3566G>A (p.Arg1189Gln) |
single nucleotide variant |
not provided [RCV002041528] |
Chr10:71725507 [GRCh38] Chr10:73485264 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3371T>G (p.Leu1124Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823224] |
Chr10:71724046 [GRCh38] Chr10:73483803 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) |
copy number loss |
not specified [RCV002052875] |
Chr10:68735254..78885714 [GRCh37] Chr10:10q21.3-22.3 |
pathogenic |
NM_022124.6(CDH23):c.4206+16G>T |
single nucleotide variant |
not provided [RCV002049709] |
Chr10:71734357 [GRCh38] Chr10:73494114 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.3972G>C (p.Glu1324Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001823249] |
Chr10:71732243 [GRCh38] Chr10:73492000 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3431-2A>G |
single nucleotide variant |
not provided [RCV002025577] |
Chr10:71725370 [GRCh38] Chr10:73485127 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4207-1G>C |
single nucleotide variant |
not provided [RCV002038416] |
Chr10:71734655 [GRCh38] Chr10:73494412 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3430+1G>A |
single nucleotide variant |
not provided [RCV001999349] |
Chr10:71724106 [GRCh38] Chr10:73483863 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3964A>G (p.Ile1322Val) |
single nucleotide variant |
not provided [RCV002011551] |
Chr10:71732235 [GRCh38] Chr10:73491992 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_001164375.3(C10orf105):c.*3275T>A |
single nucleotide variant |
not provided [RCV001958563] |
Chr10:71712661 [GRCh38] Chr10:73472418 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NC_000010.10:g.(?_73381150)_(73553170_?)del |
deletion |
not provided [RCV001963106] |
Chr10:73381150..73553170 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3644G>A (p.Arg1215His) |
single nucleotide variant |
not provided [RCV001912093] |
Chr10:71730533 [GRCh38] Chr10:73490290 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4033C>G (p.Gln1345Glu) |
single nucleotide variant |
not provided [RCV001922616] |
Chr10:71732304 [GRCh38] Chr10:73492061 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3254C>T (p.Thr1085Ile) |
single nucleotide variant |
not provided [RCV001932279] |
Chr10:71712698 [GRCh38] Chr10:73472455 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3579+2T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV003136378]|Pituitary adenoma 5, multiple types [RCV003475245]|Usher syndrome [RCV003230720]|not provided [RCV001956332] |
Chr10:71725522 [GRCh38] Chr10:73485279 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_022124.6(CDH23):c.3713_3714del (p.Ser1238fs) |
microsatellite |
not provided [RCV001956298] |
Chr10:71730600..71730601 [GRCh38] Chr10:73490357..73490358 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3746T>C (p.Leu1249Pro) |
single nucleotide variant |
not provided [RCV001881263] |
Chr10:71732017 [GRCh38] Chr10:73491774 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3490C>T (p.Arg1164Trp) |
single nucleotide variant |
not provided [RCV001883205] |
Chr10:71725431 [GRCh38] Chr10:73485188 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3232G>C (p.Val1078Leu) |
single nucleotide variant |
not provided [RCV002031772] |
Chr10:71712676 [GRCh38] Chr10:73472433 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3375del (p.Ala1126fs) |
deletion |
not provided [RCV001890228] |
Chr10:71724048 [GRCh38] Chr10:73483805 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3997G>A (p.Val1333Met) |
single nucleotide variant |
not provided [RCV001976854] |
Chr10:71732268 [GRCh38] Chr10:73492025 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002491893]|not provided [RCV001938365] |
Chr10:71712740 [GRCh38] Chr10:73472497 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV002490284]|not provided [RCV001930636] |
Chr10:71730482 [GRCh38] Chr10:73490239 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3716-16_3716-15del |
microsatellite |
not provided [RCV001932325] |
Chr10:71731969..71731970 [GRCh38] Chr10:73491726..73491727 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3248C>G (p.Thr1083Arg) |
single nucleotide variant |
not provided [RCV002017328] |
Chr10:71712692 [GRCh38] Chr10:73472449 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3266T>C (p.Phe1089Ser) |
single nucleotide variant |
not provided [RCV001885551] |
Chr10:71712710 [GRCh38] Chr10:73472467 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3866C>T (p.Ala1289Val) |
single nucleotide variant |
not provided [RCV001902179] |
Chr10:71732137 [GRCh38] Chr10:73491894 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3983T>C (p.Leu1328Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003355577]|not provided [RCV001899869] |
Chr10:71732254 [GRCh38] Chr10:73492011 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3754G>A (p.Ala1252Thr) |
single nucleotide variant |
not provided [RCV001883749] |
Chr10:71732025 [GRCh38] Chr10:73491782 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3507G>C (p.Glu1169Asp) |
single nucleotide variant |
not provided [RCV001966941] |
Chr10:71725448 [GRCh38] Chr10:73485205 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73490206)_(73768229_?)dup |
duplication |
not provided [RCV001955739] |
Chr10:73490206..73768229 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3902T>A (p.Ile1301Asn) |
single nucleotide variant |
not provided [RCV001971268] |
Chr10:71732173 [GRCh38] Chr10:73491930 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4209+15G>C |
single nucleotide variant |
not provided [RCV002111435] |
Chr10:71734673 [GRCh38] Chr10:73494430 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3370-19G>A |
single nucleotide variant |
not provided [RCV002080275] |
Chr10:71724026 [GRCh38] Chr10:73483783 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3585T>C (p.Ile1195=) |
single nucleotide variant |
not provided [RCV002214666] |
Chr10:71730474 [GRCh38] Chr10:73490231 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+15G>A |
single nucleotide variant |
not provided [RCV002132700] |
Chr10:71732390 [GRCh38] Chr10:73492147 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3681A>C (p.Ser1227=) |
single nucleotide variant |
not provided [RCV002098701] |
Chr10:71730570 [GRCh38] Chr10:73490327 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+13G>A |
single nucleotide variant |
not provided [RCV002220252] |
Chr10:71725533 [GRCh38] Chr10:73485290 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3642C>T (p.Ser1214=) |
single nucleotide variant |
not provided [RCV002220715] |
Chr10:71730531 [GRCh38] Chr10:73490288 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3930C>T (p.Ala1310=) |
single nucleotide variant |
not provided [RCV002219962] |
Chr10:71732201 [GRCh38] Chr10:73491958 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3471G>C (p.Gly1157=) |
single nucleotide variant |
not provided [RCV002140148] |
Chr10:71725412 [GRCh38] Chr10:73485169 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3745C>T (p.Leu1249=) |
single nucleotide variant |
not provided [RCV002109742] |
Chr10:71732016 [GRCh38] Chr10:73491773 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4105-13C>T |
single nucleotide variant |
not provided [RCV002174411] |
Chr10:71734227 [GRCh38] Chr10:73493984 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+11G>C |
single nucleotide variant |
not provided [RCV002186803] |
Chr10:71732386 [GRCh38] Chr10:73492143 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4105-14C>A |
single nucleotide variant |
not provided [RCV002190343] |
Chr10:71734226 [GRCh38] Chr10:73493983 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4047C>T (p.Arg1349=) |
single nucleotide variant |
not provided [RCV002146442] |
Chr10:71732318 [GRCh38] Chr10:73492075 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4062C>A (p.Thr1354=) |
single nucleotide variant |
not provided [RCV002155182] |
Chr10:71732333 [GRCh38] Chr10:73492090 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3390T>C (p.Asp1130=) |
single nucleotide variant |
not provided [RCV002095727] |
Chr10:71724065 [GRCh38] Chr10:73483822 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4131G>A (p.Val1377=) |
single nucleotide variant |
not provided [RCV002219840] |
Chr10:71734266 [GRCh38] Chr10:73494023 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3966C>T (p.Ile1322=) |
single nucleotide variant |
not provided [RCV002139048] |
Chr10:71732237 [GRCh38] Chr10:73491994 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3852G>T (p.Ser1284=) |
single nucleotide variant |
not provided [RCV002152340] |
Chr10:71732123 [GRCh38] Chr10:73491880 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3543C>T (p.Tyr1181=) |
single nucleotide variant |
not provided [RCV002156826] |
Chr10:71725484 [GRCh38] Chr10:73485241 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3849G>T (p.Val1283=) |
single nucleotide variant |
not provided [RCV002167422] |
Chr10:71732120 [GRCh38] Chr10:73491877 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3370-12A>G |
single nucleotide variant |
not provided [RCV002094330] |
Chr10:71724033 [GRCh38] Chr10:73483790 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4207-4A>G |
single nucleotide variant |
not provided [RCV002072567] |
Chr10:71734652 [GRCh38] Chr10:73494409 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3795C>T (p.Ile1265=) |
single nucleotide variant |
not provided [RCV002100151] |
Chr10:71732066 [GRCh38] Chr10:73491823 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3715+9G>A |
single nucleotide variant |
not provided [RCV002193964] |
Chr10:71730613 [GRCh38] Chr10:73490370 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3405G>T (p.Gly1135=) |
single nucleotide variant |
not provided [RCV002121829] |
Chr10:71724080 [GRCh38] Chr10:73483837 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3999G>T (p.Val1333=) |
single nucleotide variant |
not provided [RCV002210084] |
Chr10:71732270 [GRCh38] Chr10:73492027 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+15G>A |
single nucleotide variant |
not provided [RCV002130492] |
Chr10:71725535 [GRCh38] Chr10:73485292 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+7G>C |
single nucleotide variant |
not provided [RCV002156275] |
Chr10:71732382 [GRCh38] Chr10:73492139 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3921G>A (p.Leu1307=) |
single nucleotide variant |
not provided [RCV002176565] |
Chr10:71732192 [GRCh38] Chr10:73491949 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-20G>C |
single nucleotide variant |
not provided [RCV002072438] |
Chr10:71725352 [GRCh38] Chr10:73485109 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3370-5C>T |
single nucleotide variant |
not provided [RCV002200724] |
Chr10:71724040 [GRCh38] Chr10:73483797 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4146C>G (p.Gly1382=) |
single nucleotide variant |
not provided [RCV002208317] |
Chr10:71734281 [GRCh38] Chr10:73494038 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3444C>T (p.Asn1148=) |
single nucleotide variant |
not provided [RCV002160356] |
Chr10:71725385 [GRCh38] Chr10:73485142 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3716-5T>C |
single nucleotide variant |
not provided [RCV002184395] |
Chr10:71731982 [GRCh38] Chr10:73491739 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3370-15C>T |
single nucleotide variant |
not provided [RCV002213500] |
Chr10:71724030 [GRCh38] Chr10:73483787 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4206+16G>A |
single nucleotide variant |
not provided [RCV002110539] |
Chr10:71734357 [GRCh38] Chr10:73494114 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3261C>G (p.Thr1087=) |
single nucleotide variant |
not provided [RCV002175493] |
Chr10:71712705 [GRCh38] Chr10:73472462 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3228C>A (p.Gly1076=) |
single nucleotide variant |
not provided [RCV002104020] |
Chr10:71712672 [GRCh38] Chr10:73472429 [GRCh37] Chr10:10q22.1 |
likely benign |
NC_000010.10:g.(?_73464648)_(73768229_?)dup |
duplication |
not provided [RCV003111464] |
Chr10:73464648..73768229 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3838A>C (p.Met1280Leu) |
single nucleotide variant |
not provided [RCV003115644] |
Chr10:71732109 [GRCh38] Chr10:73491866 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3608A>G (p.Asp1203Gly) |
single nucleotide variant |
not provided [RCV002275410] |
Chr10:71730497 [GRCh38] Chr10:73490254 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4138G>C (p.Glu1380Gln) |
single nucleotide variant |
not provided [RCV002296350] |
Chr10:71734273 [GRCh38] Chr10:73494030 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4025A>G (p.Asn1342Ser) |
single nucleotide variant |
not provided [RCV002285955] |
Chr10:71732296 [GRCh38] Chr10:73492053 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3388G>A (p.Asp1130Asn) |
single nucleotide variant |
not provided [RCV002296912] |
Chr10:71724063 [GRCh38] Chr10:73483820 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3362T>A (p.Ile1121Asn) |
single nucleotide variant |
not provided [RCV002302380] |
Chr10:71712806 [GRCh38] Chr10:73472563 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4068C>T (p.Thr1356=) |
single nucleotide variant |
not provided [RCV002971880] |
Chr10:71732339 [GRCh38] Chr10:73492096 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3502C>T (p.Arg1168Trp) |
single nucleotide variant |
not provided [RCV002967766] |
Chr10:71725443 [GRCh38] Chr10:73485200 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4204G>A (p.Val1402Met) |
single nucleotide variant |
not provided [RCV003075278] |
Chr10:71734339 [GRCh38] Chr10:73494096 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3427C>T (p.His1143Tyr) |
single nucleotide variant |
not provided [RCV003033839] |
Chr10:71724102 [GRCh38] Chr10:73483859 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3451C>T (p.Arg1151Trp) |
single nucleotide variant |
not provided [RCV003076372] |
Chr10:71725392 [GRCh38] Chr10:73485149 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3418C>T (p.Arg1140Cys) |
single nucleotide variant |
not provided [RCV002996492] |
Chr10:71724093 [GRCh38] Chr10:73483850 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3579+14C>T |
single nucleotide variant |
not provided [RCV002786106] |
Chr10:71725534 [GRCh38] Chr10:73485291 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3573C>A (p.Ser1191=) |
single nucleotide variant |
not provided [RCV003036379] |
Chr10:71725514 [GRCh38] Chr10:73485271 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3226G>A (p.Gly1076Ser) |
single nucleotide variant |
not provided [RCV002636527] |
Chr10:71712670 [GRCh38] Chr10:73472427 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3690G>A (p.Val1230=) |
single nucleotide variant |
not provided [RCV003019558] |
Chr10:71730579 [GRCh38] Chr10:73490336 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3534G>A (p.Val1178=) |
single nucleotide variant |
not provided [RCV003035305] |
Chr10:71725475 [GRCh38] Chr10:73485232 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4109T>C (p.Val1370Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002887837] |
Chr10:71734244 [GRCh38] Chr10:73494001 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4137T>A (p.Arg1379=) |
single nucleotide variant |
not provided [RCV002658918] |
Chr10:71734272 [GRCh38] Chr10:73494029 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3715+9G>T |
single nucleotide variant |
not provided [RCV002824908] |
Chr10:71730613 [GRCh38] Chr10:73490370 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3643C>A (p.Arg1215Ser) |
single nucleotide variant |
not provided [RCV003080605] |
Chr10:71730532 [GRCh38] Chr10:73490289 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3979G>T (p.Ala1327Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002798887] |
Chr10:71732250 [GRCh38] Chr10:73492007 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4209+15G>A |
single nucleotide variant |
not provided [RCV002976407] |
Chr10:71734673 [GRCh38] Chr10:73494430 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3462C>T (p.Val1154=) |
single nucleotide variant |
not provided [RCV002734962] |
Chr10:71725403 [GRCh38] Chr10:73485160 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3944A>G (p.Asn1315Ser) |
single nucleotide variant |
not provided [RCV003085703] |
Chr10:71732215 [GRCh38] Chr10:73491972 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4001G>A (p.Arg1334Gln) |
single nucleotide variant |
not provided [RCV003058628] |
Chr10:71732272 [GRCh38] Chr10:73492029 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3597G>A (p.Glu1199=) |
single nucleotide variant |
not provided [RCV003084698] |
Chr10:71730486 [GRCh38] Chr10:73490243 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3251G>A (p.Gly1084Asp) |
single nucleotide variant |
not provided [RCV002643517] |
Chr10:71712695 [GRCh38] Chr10:73472452 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4018A>G (p.Ile1340Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003162009]|not provided [RCV002643618] |
Chr10:71732289 [GRCh38] Chr10:73492046 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3916G>A (p.Glu1306Lys) |
single nucleotide variant |
not provided [RCV003056481] |
Chr10:71732187 [GRCh38] Chr10:73491944 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4104+14G>A |
single nucleotide variant |
not provided [RCV002664143] |
Chr10:71732389 [GRCh38] Chr10:73492146 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+10G>A |
single nucleotide variant |
not provided [RCV002805300] |
Chr10:71725530 [GRCh38] Chr10:73485287 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3582G>A (p.Val1194=) |
single nucleotide variant |
not provided [RCV002791227] |
Chr10:71730471 [GRCh38] Chr10:73490228 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3502C>A (p.Arg1168=) |
single nucleotide variant |
not provided [RCV002711200] |
Chr10:71725443 [GRCh38] Chr10:73485200 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3955G>A (p.Glu1319Lys) |
single nucleotide variant |
not provided [RCV002928977] |
Chr10:71732226 [GRCh38] Chr10:73491983 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3460G>A (p.Val1154Ile) |
single nucleotide variant |
not provided [RCV002710819] |
Chr10:71725401 [GRCh38] Chr10:73485158 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4206+13A>G |
single nucleotide variant |
not provided [RCV003025553] |
Chr10:71734354 [GRCh38] Chr10:73494111 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3670A>G (p.Ile1224Val) |
single nucleotide variant |
not provided [RCV002740536] |
Chr10:71730559 [GRCh38] Chr10:73490316 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3230C>G (p.Pro1077Arg) |
single nucleotide variant |
not provided [RCV003041659] |
Chr10:71712674 [GRCh38] Chr10:73472431 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4180G>A (p.Gly1394Ser) |
single nucleotide variant |
not provided [RCV003062273] |
Chr10:71734315 [GRCh38] Chr10:73494072 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3430+11C>T |
single nucleotide variant |
not provided [RCV003091308] |
Chr10:71724116 [GRCh38] Chr10:73483873 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3762del (p.Lys1255fs) |
deletion |
not provided [RCV002856186] |
Chr10:71732030 [GRCh38] Chr10:73491787 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3948C>T (p.Ala1316=) |
single nucleotide variant |
not provided [RCV003009843] |
Chr10:71732219 [GRCh38] Chr10:73491976 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3483A>G (p.Arg1161=) |
single nucleotide variant |
not provided [RCV003045749] |
Chr10:71725424 [GRCh38] Chr10:73485181 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3740G>A (p.Arg1247His) |
single nucleotide variant |
not provided [RCV002628351] |
Chr10:71732011 [GRCh38] Chr10:73491768 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003475492]|not provided [RCV003062272] |
Chr10:71732133 [GRCh38] Chr10:73491890 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3580-20C>G |
single nucleotide variant |
not provided [RCV002629857] |
Chr10:71730449 [GRCh38] Chr10:73490206 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3912C>T (p.Leu1304=) |
single nucleotide variant |
not provided [RCV003043821] |
Chr10:71732183 [GRCh38] Chr10:73491940 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3879C>T (p.Asn1293=) |
single nucleotide variant |
not provided [RCV002835046] |
Chr10:71732150 [GRCh38] Chr10:73491907 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001164375.3(C10orf105):c.*3278G>C |
single nucleotide variant |
not provided [RCV002898783] |
Chr10:71712658 [GRCh38] Chr10:73472415 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3715+13G>A |
single nucleotide variant |
not provided [RCV003064197] |
Chr10:71730617 [GRCh38] Chr10:73490374 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3633G>T (p.Gln1211His) |
single nucleotide variant |
Inborn genetic diseases [RCV003269463]|not provided [RCV002579238] |
Chr10:71730522 [GRCh38] Chr10:73490279 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4206+3G>A |
single nucleotide variant |
not provided [RCV002676052] |
Chr10:71734344 [GRCh38] Chr10:73494101 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4072G>A (p.Ala1358Thr) |
single nucleotide variant |
not provided [RCV003091909] |
Chr10:71732343 [GRCh38] Chr10:73492100 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3353G>T (p.Gly1118Val) |
single nucleotide variant |
not provided [RCV003092201] |
Chr10:71712797 [GRCh38] Chr10:73472554 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3327C>T (p.Ala1109=) |
single nucleotide variant |
not provided [RCV002605353] |
Chr10:71712771 [GRCh38] Chr10:73472528 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4105-10T>C |
single nucleotide variant |
not provided [RCV002814489] |
Chr10:71734230 [GRCh38] Chr10:73493987 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3778G>A (p.Glu1260Lys) |
single nucleotide variant |
not provided [RCV003068989] |
Chr10:71732049 [GRCh38] Chr10:73491806 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3750G>A (p.Ser1250=) |
single nucleotide variant |
not provided [RCV003051063] |
Chr10:71732021 [GRCh38] Chr10:73491778 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3471G>A (p.Gly1157=) |
single nucleotide variant |
not provided [RCV003073339] |
Chr10:71725412 [GRCh38] Chr10:73485169 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4135C>T (p.Arg1379Cys) |
single nucleotide variant |
not provided [RCV002588419] |
Chr10:71734270 [GRCh38] Chr10:73494027 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3369+9_3369+31dup |
duplication |
not provided [RCV002586785] |
Chr10:71712812..71712813 [GRCh38] Chr10:73472569..73472570 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3509G>A (p.Arg1170Gln) |
single nucleotide variant |
not provided [RCV003066794] |
Chr10:71725450 [GRCh38] Chr10:73485207 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_001164375.3(C10orf105):c.170C>T (p.Thr57Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002678593] |
Chr10:71716168 [GRCh38] Chr10:73475925 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3419G>A (p.Arg1140His) |
single nucleotide variant |
Inborn genetic diseases [RCV003197297] |
Chr10:71724094 [GRCh38] Chr10:73483851 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3484G>A (p.Gly1162Arg) |
single nucleotide variant |
not provided [RCV003144764] |
Chr10:71725425 [GRCh38] Chr10:73485182 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) |
copy number loss |
Distal 10q deletion syndrome [RCV003319583] |
Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) |
copy number gain |
Distal trisomy 10q [RCV003319593] |
Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
NM_022124.6(CDH23):c.3796A>G (p.Ile1266Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003364702] |
Chr10:71732067 [GRCh38] Chr10:73491824 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3720_3733del (p.Asp1240fs) |
deletion |
Pituitary adenoma 5, multiple types [RCV003474534] |
Chr10:71731989..71732002 [GRCh38] Chr10:73491746..73491759 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3430+19G>T |
single nucleotide variant |
not provided [RCV003726067] |
Chr10:71724124 [GRCh38] Chr10:73483881 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4209+1G>A |
single nucleotide variant |
not provided [RCV003710691] |
Chr10:71734659 [GRCh38] Chr10:73494416 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.4206+12C>G |
single nucleotide variant |
not provided [RCV003712892] |
Chr10:71734353 [GRCh38] Chr10:73494110 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3716-10C>G |
single nucleotide variant |
not provided [RCV003663329] |
Chr10:71731977 [GRCh38] Chr10:73491734 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3474C>T (p.Leu1158=) |
single nucleotide variant |
not provided [RCV003733465] |
Chr10:71725415 [GRCh38] Chr10:73485172 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3716-4A>C |
single nucleotide variant |
not provided [RCV003734656] |
Chr10:71731983 [GRCh38] Chr10:73491740 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3370-9C>T |
single nucleotide variant |
not provided [RCV003670486] |
Chr10:71724036 [GRCh38] Chr10:73483793 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3715+10G>T |
single nucleotide variant |
not provided [RCV003671707] |
Chr10:71730614 [GRCh38] Chr10:73490371 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3580-4A>G |
single nucleotide variant |
not provided [RCV003734876] |
Chr10:71730465 [GRCh38] Chr10:73490222 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3370-18T>C |
single nucleotide variant |
not provided [RCV003735708] |
Chr10:71724027 [GRCh38] Chr10:73483784 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4164A>G (p.Thr1388=) |
single nucleotide variant |
not provided [RCV003686518] |
Chr10:71734299 [GRCh38] Chr10:73494056 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4206+14_4206+40del |
deletion |
not provided [RCV003681932] |
Chr10:71734352..71734378 [GRCh38] Chr10:73494109..73494135 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4194G>T (p.Val1398=) |
single nucleotide variant |
not provided [RCV003688060] |
Chr10:71734329 [GRCh38] Chr10:73494086 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+19T>C |
single nucleotide variant |
not provided [RCV003695536] |
Chr10:71725539 [GRCh38] Chr10:73485296 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-18G>T |
single nucleotide variant |
not provided [RCV003671545] |
Chr10:71725354 [GRCh38] Chr10:73485111 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3561C>T (p.Pro1187=) |
single nucleotide variant |
not provided [RCV003690336] |
Chr10:71725502 [GRCh38] Chr10:73485259 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+17A>G |
single nucleotide variant |
not provided [RCV003692696] |
Chr10:71732392 [GRCh38] Chr10:73492149 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3855C>T (p.Ala1285=) |
single nucleotide variant |
not provided [RCV003692724] |
Chr10:71732126 [GRCh38] Chr10:73491883 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3413G>A (p.Trp1138Ter) |
single nucleotide variant |
not provided [RCV003693313] |
Chr10:71724088 [GRCh38] Chr10:73483845 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3950dup (p.Tyr1318fs) |
duplication |
not provided [RCV003694517] |
Chr10:71732220..71732221 [GRCh38] Chr10:73491977..73491978 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3370-20C>T |
single nucleotide variant |
not provided [RCV003731342] |
Chr10:71724025 [GRCh38] Chr10:73483782 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-15T>C |
single nucleotide variant |
not provided [RCV003677687] |
Chr10:71725357 [GRCh38] Chr10:73485114 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+20G>C |
single nucleotide variant |
not provided [RCV003678232] |
Chr10:71725540 [GRCh38] Chr10:73485297 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4101C>T (p.Ile1367=) |
single nucleotide variant |
not provided [RCV003701241] |
Chr10:71732372 [GRCh38] Chr10:73492129 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3897C>T (p.Val1299=) |
single nucleotide variant |
not provided [RCV003701441] |
Chr10:71732168 [GRCh38] Chr10:73491925 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3539C>G (p.Ala1180Gly) |
single nucleotide variant |
not provided [RCV003703306] |
Chr10:71725480 [GRCh38] Chr10:73485237 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4173A>G (p.Ala1391=) |
single nucleotide variant |
not provided [RCV003707560] |
Chr10:71734308 [GRCh38] Chr10:73494065 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474478] |
Chr10:71734330 [GRCh38] Chr10:73494087 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.4101_4104+3del |
deletion |
Pituitary adenoma 5, multiple types [RCV003474527] |
Chr10:71732372..71732378 [GRCh38] Chr10:73492129..73492135 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3580-17T>C |
single nucleotide variant |
not provided [RCV003872706] |
Chr10:71730452 [GRCh38] Chr10:73490209 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4207-2A>G |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474529] |
Chr10:71734654 [GRCh38] Chr10:73494411 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3769G>T (p.Glu1257Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474536] |
Chr10:71732040 [GRCh38] Chr10:73491797 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 |
copy number gain |
not provided [RCV003484798] |
Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2 |
pathogenic |
GRCh37/hg19 10q22.1(chr10:73321269-74612651)x1 |
copy number loss |
not provided [RCV003483098] |
Chr10:73321269..74612651 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.3486dup (p.Pro1163fs) |
duplication |
Pituitary adenoma 5, multiple types [RCV003474505] |
Chr10:71725424..71725425 [GRCh38] Chr10:73485181..73485182 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3292_3295dup (p.Arg1099fs) |
duplication |
Pituitary adenoma 5, multiple types [RCV003474480] |
Chr10:71712734..71712735 [GRCh38] Chr10:73472491..73472492 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3591C>A (p.Tyr1197Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474487] |
Chr10:71730480 [GRCh38] Chr10:73490237 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3397G>T (p.Glu1133Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474544] |
Chr10:71724072 [GRCh38] Chr10:73483829 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3634C>T (p.Gln1212Ter) |
single nucleotide variant |
Pituitary adenoma 5, multiple types [RCV003474539] |
Chr10:71730523 [GRCh38] Chr10:73490280 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_001164375.3(C10orf105):c.*490C>T |
single nucleotide variant |
not provided [RCV003417485] |
Chr10:71715446 [GRCh38] Chr10:73475203 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001164375.3(C10orf105):c.78C>T (p.Pro26=) |
single nucleotide variant |
not provided [RCV003417486] |
Chr10:71716260 [GRCh38] Chr10:73476017 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4104+17A>C |
single nucleotide variant |
not provided [RCV003551981] |
Chr10:71732392 [GRCh38] Chr10:73492149 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3431-19G>T |
single nucleotide variant |
not provided [RCV003567165] |
Chr10:71725353 [GRCh38] Chr10:73485110 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3801C>G (p.Thr1267=) |
single nucleotide variant |
not provided [RCV003566560] |
Chr10:71732072 [GRCh38] Chr10:73491829 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3579+13G>T |
single nucleotide variant |
not provided [RCV003572993] |
Chr10:71725533 [GRCh38] Chr10:73485290 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3462C>A (p.Val1154=) |
single nucleotide variant |
not provided [RCV003574604] |
Chr10:71725403 [GRCh38] Chr10:73485160 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3430+9G>A |
single nucleotide variant |
not provided [RCV003575723] |
Chr10:71724114 [GRCh38] Chr10:73483871 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.4207-14G>C |
single nucleotide variant |
not provided [RCV003878646] |
Chr10:71734642 [GRCh38] Chr10:73494399 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3822G>A (p.Glu1274=) |
single nucleotide variant |
not provided [RCV003544724] |
Chr10:71732093 [GRCh38] Chr10:73491850 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3888C>T (p.Phe1296=) |
single nucleotide variant |
not provided [RCV003551965] |
Chr10:71732159 [GRCh38] Chr10:73491916 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3615C>T (p.Ala1205=) |
single nucleotide variant |
not provided [RCV003877233] |
Chr10:71730504 [GRCh38] Chr10:73490261 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3430+20G>T |
single nucleotide variant |
not provided [RCV003557033] |
Chr10:71724125 [GRCh38] Chr10:73483882 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001164375.3(C10orf105):c.*3291A>T |
single nucleotide variant |
not provided [RCV003663464] |
Chr10:71712645 [GRCh38] Chr10:73472402 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3715+16G>A |
single nucleotide variant |
not provided [RCV003575887] |
Chr10:71730620 [GRCh38] Chr10:73490377 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3481C>A (p.Arg1161=) |
single nucleotide variant |
not provided [RCV003576292] |
Chr10:71725422 [GRCh38] Chr10:73485179 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3834C>T (p.Ser1278=) |
single nucleotide variant |
not provided [RCV003579189] |
Chr10:71732105 [GRCh38] Chr10:73491862 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3715+17G>A |
single nucleotide variant |
not provided [RCV003549171] |
Chr10:71730621 [GRCh38] Chr10:73490378 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3430+2T>C |
single nucleotide variant |
not provided [RCV003545395] |
Chr10:71724107 [GRCh38] Chr10:73483864 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3431-20G>T |
single nucleotide variant |
not provided [RCV003557411] |
Chr10:71725352 [GRCh38] Chr10:73485109 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3715+1G>A |
single nucleotide variant |
not provided [RCV003561557] |
Chr10:71730605 [GRCh38] Chr10:73490362 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_022124.6(CDH23):c.3243A>C (p.Arg1081=) |
single nucleotide variant |
not provided [RCV003690176] |
Chr10:71712687 [GRCh38] Chr10:73472444 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.3541_3559del (p.Tyr1181fs) |
deletion |
not provided [RCV003565166] |
Chr10:71725478..71725496 [GRCh38] Chr10:73485235..73485253 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_022124.6(CDH23):c.3828G>A (p.Lys1276=) |
single nucleotide variant |
not provided [RCV003574497] |
Chr10:71732099 [GRCh38] Chr10:73491856 [GRCh37] Chr10:10q22.1 |
likely benign |