| NM_174878.3(CLRN1):c.461T>G (p.Leu154Trp) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV000023537]|Usher syndrome type 3A [RCV002513194] |
Chr3:150928174 [GRCh38]
Chr3:150645961 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.92C>T (p.Pro31Leu) |
single nucleotide variant |
Retinal dystrophy [RCV001073290]|Retinitis pigmentosa 61 [RCV000023538]|not provided [RCV001384938] |
Chr3:150972617 [GRCh38]
Chr3:150690404 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) |
single nucleotide variant |
Hearing impairment [RCV001375084]|Retinitis pigmentosa 61 [RCV003466811]|Retinitis pigmentosa [RCV002247246]|Retinitis pigmentosa [RCV002496258]|Usher syndrome type 3 [RCV000004642]|not provided [RCV000724158] |
Chr3:150928107 [GRCh38]
Chr3:150645894 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.359T>A (p.Met120Lys) |
single nucleotide variant |
Usher syndrome type 3 [RCV000004643]|not provided [RCV001851649] |
Chr3:150941656 [GRCh38]
Chr3:150659443 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.459_461del (p.Ile153_Leu154delinsMet) |
deletion |
Retinitis pigmentosa 61 [RCV004566682]|Usher syndrome type 3 [RCV000004644] |
Chr3:150928174..150928176 [GRCh38]
Chr3:150645961..150645963 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) |
single nucleotide variant |
Retinal dystrophy [RCV001073333]|Retinitis pigmentosa 61 [RCV003466812]|Retinitis pigmentosa 61 [RCV005003335]|Retinitis pigmentosa [RCV000504948]|Retinitis pigmentosa [RCV001824560]|Usher syndrome type 3 [RCV000004645]|Usher syndrome type 3A [RCV001273483]|not provided [RCV000489880]|not specified [RCV000999864] |
Chr3:150972565 [GRCh38]
Chr3:150690352 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV003466813]|Usher syndrome type 3 [RCV000004646] |
Chr3:150928186 [GRCh38]
Chr3:150645973 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) |
single nucleotide variant |
CLRN1-related disorder [RCV003407275]|Rare genetic deafness [RCV000844690]|Retinitis pigmentosa 61 [RCV003466814]|Retinitis pigmentosa 61 [RCV005031388]|Retinitis pigmentosa [RCV000505037]|Usher syndrome type 3 [RCV000004647]|Usher syndrome type 3A [RCV001376502]|not provided [RCV001384937] |
Chr3:150972520 [GRCh38]
Chr3:150690307 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.188_210del (p.Tyr63fs) |
deletion |
Usher syndrome type 3 [RCV000004648] |
Chr3:150972499..150972521 [GRCh38]
Chr3:150690286..150690308 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) |
single nucleotide variant |
CLRN1-related disorder [RCV004754242]|Retinal dystrophy [RCV001075346]|Retinitis pigmentosa 61 [RCV003466815]|Retinitis pigmentosa 61 [RCV005031389]|Usher syndrome [RCV002468960]|Usher syndrome type 3 [RCV000004649]|Usher syndrome type 3A [RCV001273484]|not provided [RCV000414238] |
Chr3:150972591 [GRCh38]
Chr3:150690378 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
| NM_174878.3(CLRN1):c.243T>C (p.Phe81=) |
single nucleotide variant |
not provided [RCV002054814]|not specified [RCV000041434] |
Chr3:150972466 [GRCh38]
Chr3:150690253 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.*5C>T |
single nucleotide variant |
not provided [RCV001618236]|not specified [RCV000041429] |
Chr3:150927931 [GRCh38]
Chr3:150645718 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg) |
single nucleotide variant |
Rare genetic deafness [RCV000041430]|Retinitis pigmentosa 61 [RCV005031479]|not provided [RCV001058723] |
Chr3:150972582 [GRCh38]
Chr3:150690369 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp) |
single nucleotide variant |
Retinal dystrophy [RCV001074854]|Usher syndrome type 3 [RCV001831698]|not provided [RCV001852844]|not specified [RCV000041431] |
Chr3:150972567 [GRCh38]
Chr3:150690354 [GRCh37]
Chr3:3q25.1 |
likely pathogenic|uncertain significance |
| NM_174878.3(CLRN1):c.301_305del (p.Val101fs) |
deletion |
Rare genetic deafness [RCV000844625]|Retinitis pigmentosa 61 [RCV005031480]|Usher syndrome [RCV002273943]|Usher syndrome type 3 [RCV000041435]|not provided [RCV002513586] |
Chr3:150941710..150941714 [GRCh38]
Chr3:150659497..150659501 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) |
single nucleotide variant |
Rare genetic deafness [RCV000844624]|Retinitis pigmentosa 61 [RCV003466890]|Retinitis pigmentosa 61 [RCV005031481]|Usher syndrome [RCV001582535]|Usher syndrome type 3 [RCV000041436]|Usher syndrome type 3A [RCV002243688]|not provided [RCV001071445] |
Chr3:150941647 [GRCh38]
Chr3:150659434 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_174878.3(CLRN1):c.57A>T (p.Ala19=) |
single nucleotide variant |
Retinal dystrophy [RCV003887879]|Usher syndrome type 3 [RCV000349170]|Usher syndrome type 3A [RCV001273485]|not provided [RCV001520211]|not specified [RCV000041437] |
Chr3:150972652 [GRCh38]
Chr3:150690439 [GRCh37]
Chr3:3q25.1 |
benign|likely benign |
| NM_174878.3(CLRN1):c.6A>C (p.Pro2=) |
single nucleotide variant |
Usher syndrome type 3 [RCV000672213]|Usher syndrome type 3A [RCV001273486]|not provided [RCV000086945]|not specified [RCV000041438] |
Chr3:150972703 [GRCh38]
Chr3:150690490 [GRCh37]
Chr3:3q25.1 |
benign|likely benign|not provided |
| NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg) |
single nucleotide variant |
Retinal dystrophy [RCV003887880]|Usher syndrome type 3A [RCV001272456]|not provided [RCV000726773]|not specified [RCV000041439] |
Chr3:150972700 [GRCh38]
Chr3:150690487 [GRCh37]
Chr3:3q25.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 |
copy number gain |
See cases [RCV000051724] |
Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32 |
pathogenic |
| GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 |
copy number gain |
See cases [RCV000051725] |
Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29 |
pathogenic |
| GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] |
Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29 |
pathogenic |
| NM_174878.3(CLRN1):c.433+1109C>A |
single nucleotide variant |
Retinal dystrophy [RCV004815905] |
Chr3:150940473 [GRCh38]
Chr3:150658260 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 |
copy number gain |
See cases [RCV000134948] |
Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29 |
pathogenic |
| GRCh38/hg38 3q25.1(chr3:150889603-151142420)x3 |
copy number gain |
See cases [RCV000138618] |
Chr3:150889603..151142420 [GRCh38]
Chr3:150607390..150860207 [GRCh37]
Chr3:152090080..152342897 [NCBI36]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.660C>T (p.Asp220=) |
single nucleotide variant |
Usher syndrome type 3 [RCV000382986]|Usher syndrome type 3A [RCV001273479]|not provided [RCV000907924]|not specified [RCV000155062] |
Chr3:150927975 [GRCh38]
Chr3:150645762 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) |
indel |
Rare genetic deafness [RCV000844691]|Retinal dystrophy [RCV001073424]|Retinitis pigmentosa 61 [RCV003468834]|Retinitis pigmentosa 61 [RCV005003514]|Usher syndrome type 3 [RCV000169027]|not provided [RCV000478734] |
Chr3:150972557..150972560 [GRCh38]
Chr3:150690344..150690347 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 |
copy number gain |
See cases [RCV000240256] |
Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29 |
pathogenic |
| NM_174878.3(CLRN1):c.502dup (p.Ile168fs) |
duplication |
CLRN1-related disorder [RCV003398866]|Retinal dystrophy [RCV001073703]|Retinitis pigmentosa 61 [RCV002466459]|Retinitis pigmentosa 61 [RCV005003517]|Usher syndrome [RCV002281991]|Usher syndrome type 3 [RCV000169229]|Usher syndrome type 3A [RCV001273481]|not provided [RCV001054127] |
Chr3:150928132..150928133 [GRCh38]
Chr3:150645919..150645920 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.*115G>A |
single nucleotide variant |
Usher syndrome type 3 [RCV000324824] |
Chr3:150927821 [GRCh38]
Chr3:150645608 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.*90A>G |
single nucleotide variant |
Usher syndrome type 3 [RCV000360857]|not provided [RCV004694715] |
Chr3:150927846 [GRCh38]
Chr3:150645633 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.226T>C (p.Leu76=) |
single nucleotide variant |
Usher syndrome type 3 [RCV001275853]|not provided [RCV000726594]|not specified [RCV000220367] |
Chr3:150972483 [GRCh38]
Chr3:150690270 [GRCh37]
Chr3:3q25.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_174878.3(CLRN1):c.433+1105C>T |
single nucleotide variant |
Usher syndrome type 3A [RCV001527489]|not provided [RCV000838420]|not specified [RCV000218178] |
Chr3:150940477 [GRCh38]
Chr3:150658264 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.433+1106T>C |
single nucleotide variant |
CLRN1-related disorder [RCV003937849]|not specified [RCV000222861] |
Chr3:150940476 [GRCh38]
Chr3:150658263 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| NM_174878.3(CLRN1):c.433+1061A>T |
single nucleotide variant |
Hearing impairment [RCV001375114]|Optic atrophy [RCV004816365]|Retinal dystrophy [RCV004816364]|Retinitis pigmentosa [RCV001197097]|Usher syndrome type 3 [RCV000664764]|not provided [RCV000766844]|not specified [RCV000219342] |
Chr3:150940521 [GRCh38]
Chr3:150658308 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.98G>A (p.Trp33Ter) |
single nucleotide variant |
Retinal dystrophy [RCV000225684] |
Chr3:150972611 [GRCh38]
Chr3:150690398 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.43G>A (p.Val15Met) |
single nucleotide variant |
Usher syndrome type 3 [RCV001825496]|not provided [RCV000757092] |
Chr3:150972666 [GRCh38]
Chr3:150690453 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.254-2115del |
deletion |
Usher syndrome type 3 [RCV000669664] |
Chr3:150943876 [GRCh38]
Chr3:150661663 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.*1038G>A |
single nucleotide variant |
Usher syndrome type 3 [RCV000278638]|Usher syndrome type 3A [RCV001526749]|not provided [RCV003221942] |
Chr3:150926898 [GRCh38]
Chr3:150644685 [GRCh37]
Chr3:3q25.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_174878.3(CLRN1):c.*1039A>T |
single nucleotide variant |
Usher syndrome type 3 [RCV000337397]|not provided [RCV001559345] |
Chr3:150926897 [GRCh38]
Chr3:150644684 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| NM_174878.3(CLRN1):c.*1331C>T |
single nucleotide variant |
Usher syndrome type 3 [RCV000270866] |
Chr3:150926605 [GRCh38]
Chr3:150644392 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.*1330T>C |
single nucleotide variant |
Usher syndrome type 3 [RCV000389742] |
Chr3:150926606 [GRCh38]
Chr3:150644393 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| NM_174878.3(CLRN1):c.*315C>T |
single nucleotide variant |
Usher syndrome type 3 [RCV000273387]|not provided [RCV001672624] |
Chr3:150927621 [GRCh38]
Chr3:150645408 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.*372C>T |
single nucleotide variant |
Usher syndrome type 3 [RCV000368414]|not provided [RCV004716037] |
Chr3:150927564 [GRCh38]
Chr3:150645351 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.*275A>G |
single nucleotide variant |
Usher syndrome type 3 [RCV000300124] |
Chr3:150927661 [GRCh38]
Chr3:150645448 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| NM_174878.3(CLRN1):c.*884A>C |
single nucleotide variant |
Usher syndrome type 3 [RCV000339707]|not provided [RCV001707668] |
Chr3:150927052 [GRCh38]
Chr3:150644839 [GRCh37]
Chr3:3q25.1 |
benign|likely benign |
| NM_174878.3(CLRN1):c.*277GT[11] |
microsatellite |
Retinitis Pigmentosa, Dominant [RCV000288081]|Retinitis pigmentosa-deafness syndrome [RCV000352316] |
Chr3:150927632..150927637 [GRCh38]
Chr3:150645419..150645424 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.473A>G (p.Glu158Gly) |
single nucleotide variant |
Usher syndrome type 3 [RCV000327197]|not provided [RCV001338770] |
Chr3:150928162 [GRCh38]
Chr3:150645949 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.*277GT[13] |
microsatellite |
Retinitis Pigmentosa, Dominant [RCV000376478]|Retinitis pigmentosa-deafness syndrome [RCV000291402]|not provided [RCV001594980] |
Chr3:150927632..150927633 [GRCh38]
Chr3:150645419..150645420 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.*964C>T |
single nucleotide variant |
Usher syndrome type 3 [RCV000343284]|not provided [RCV001725174] |
Chr3:150926972 [GRCh38]
Chr3:150644759 [GRCh37]
Chr3:3q25.1 |
benign|likely benign |
| NM_174878.3(CLRN1):c.*425G>A |
single nucleotide variant |
Usher syndrome type 3 [RCV000407622] |
Chr3:150927511 [GRCh38]
Chr3:150645298 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.*856G>A |
single nucleotide variant |
Usher syndrome type 3 [RCV000402253] |
Chr3:150927080 [GRCh38]
Chr3:150644867 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.*277GT[12] |
microsatellite |
Retinitis Pigmentosa, Dominant [RCV000346639]|Retinitis pigmentosa-deafness syndrome [RCV000394325]|not provided [RCV001675844] |
Chr3:150927632..150927635 [GRCh38]
Chr3:150645419..150645422 [GRCh37]
Chr3:3q25.1 |
benign|uncertain significance |
| NM_174878.3(CLRN1):c.*265AT[5] |
microsatellite |
Retinitis Pigmentosa, Dominant [RCV000367469]|Retinitis pigmentosa-deafness syndrome [RCV000389960]|not provided [RCV001672625] |
Chr3:150927660..150927661 [GRCh38]
Chr3:150645447..150645448 [GRCh37]
Chr3:3q25.1 |
benign|uncertain significance |
| NM_174878.3(CLRN1):c.*277G>A |
single nucleotide variant |
Usher syndrome type 3 [RCV000312930]|not provided [RCV001577567] |
Chr3:150927659 [GRCh38]
Chr3:150645446 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| NM_174878.3(CLRN1):c.*1165C>G |
single nucleotide variant |
Usher syndrome type 3 [RCV000386224] |
Chr3:150926771 [GRCh38]
Chr3:150644558 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.*277GT[16] |
microsatellite |
Retinitis Pigmentosa, Dominant [RCV000321689]|Retinitis pigmentosa-deafness syndrome [RCV000285424]|not provided [RCV001591001] |
Chr3:150927631..150927632 [GRCh38]
Chr3:150645418..150645419 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| NM_174878.3(CLRN1):c.*307G>T |
single nucleotide variant |
Usher syndrome type 3 [RCV000355742] |
Chr3:150927629 [GRCh38]
Chr3:150645416 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.*277GT[15] |
microsatellite |
Retinitis Pigmentosa, Dominant [RCV000316048]|Retinitis pigmentosa-deafness syndrome [RCV000379991]|not provided [RCV001594979] |
Chr3:150927631..150927632 [GRCh38]
Chr3:150645418..150645419 [GRCh37]
Chr3:3q25.1 |
benign|uncertain significance |
| NM_174878.3(CLRN1):c.73G>T (p.Val25Leu) |
single nucleotide variant |
not provided [RCV000355017] |
Chr3:150972636 [GRCh38]
Chr3:150690423 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.571G>A (p.Val191Ile) |
single nucleotide variant |
not provided [RCV000366407]|not specified [RCV003488499] |
Chr3:150928064 [GRCh38]
Chr3:150645851 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_001195794.1(CLRN1):c.-82T>C |
single nucleotide variant |
Usher syndrome type 3 [RCV000341888] |
Chr3:150972790 [GRCh38]
Chr3:150690577 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_001195794.1(CLRN1):c.-289G>A |
single nucleotide variant |
Usher syndrome type 3 [RCV000310548]|not provided [RCV001577695] |
Chr3:150972997 [GRCh38]
Chr3:150690784 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| NM_001195794.1(CLRN1):c.-71A>G |
single nucleotide variant |
Usher syndrome type 3 [RCV000401177]|not provided [RCV001613133] |
Chr3:150972779 [GRCh38]
Chr3:150690566 [GRCh37]
Chr3:3q25.1 |
benign|likely benign |
| NM_001195794.1(CLRN1):c.-274A>C |
single nucleotide variant |
Usher syndrome type 3 [RCV000359480] |
Chr3:150972982 [GRCh38]
Chr3:150690769 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.209G>A (p.Gly70Asp) |
single nucleotide variant |
Usher syndrome type 3 [RCV000735691] |
Chr3:150972500 [GRCh38]
Chr3:150690287 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter) |
single nucleotide variant |
Usher syndrome type 3 [RCV000412180]|not provided [RCV002523872] |
Chr3:150972696 [GRCh38]
Chr3:150690483 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.433+2dup |
duplication |
Usher syndrome type 3 [RCV000412361] |
Chr3:150941579..150941580 [GRCh38]
Chr3:150659366..150659367 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV003470355]|Retinitis pigmentosa 61 [RCV005004142]|Usher syndrome type 3 [RCV000408993]|Usher syndrome type 3A [RCV001273480]|not provided [RCV001065581] |
Chr3:150928016 [GRCh38]
Chr3:150645803 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1 |
copy number loss |
See cases [RCV000447056] |
Chr3:148425748..153220169 [GRCh37]
Chr3:3q24-25.2 |
pathogenic |
| GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 |
copy number loss |
See cases [RCV000448130] |
Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2 |
pathogenic |
| NM_174878.3(CLRN1):c.254-2179_254-2178delinsCT |
indel |
not specified [RCV000483828] |
Chr3:150943939..150943940 [GRCh38]
Chr3:150661726..150661727 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.254-2057T>C |
single nucleotide variant |
Usher syndrome type 3 [RCV000669002] |
Chr3:150943818 [GRCh38]
Chr3:150661605 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.457A>G (p.Ile153Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003253342] |
Chr3:150928178 [GRCh38]
Chr3:150645965 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.183G>A (p.Met61Ile) |
single nucleotide variant |
CLRN1-related disorder [RCV004754489]|Inborn genetic diseases [RCV003160054]|Retinal dystrophy [RCV004817804]|Usher syndrome type 3 [RCV001146711]|Usher syndrome type 3A [RCV001275854]|not provided [RCV000598081] |
Chr3:150972526 [GRCh38]
Chr3:150690313 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| GRCh37/hg19 3q25.1-25.2(chr3:150352753-153522663)x1 |
copy number loss |
See cases [RCV000510834] |
Chr3:150352753..153522663 [GRCh37]
Chr3:3q25.1-25.2 |
likely pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_174878.3(CLRN1):c.291C>T (p.Ile97=) |
single nucleotide variant |
Usher syndrome type 3 [RCV000672035]|not provided [RCV001495848] |
Chr3:150941724 [GRCh38]
Chr3:150659511 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_174878.3(CLRN1):c.254-2054G>C |
single nucleotide variant |
CLRN1-related disorder [RCV003962742]|not specified [RCV000605923] |
Chr3:150943815 [GRCh38]
Chr3:150661602 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| NM_174878.3(CLRN1):c.126G>A (p.Thr42=) |
single nucleotide variant |
CLRN1-related disorder [RCV003953068]|not provided [RCV000934034] |
Chr3:150972583 [GRCh38]
Chr3:150690370 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) |
single nucleotide variant |
Retinal dystrophy [RCV004817812]|Retinitis pigmentosa [RCV002483668]|Usher syndrome type 3 [RCV000668103]|Usher syndrome type 3A [RCV001273482]|not provided [RCV001041687]|not specified [RCV000614663] |
Chr3:150972491 [GRCh38]
Chr3:150690278 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.254-2189dup |
duplication |
Usher syndrome type 3 [RCV000670715] |
Chr3:150943946..150943947 [GRCh38]
Chr3:150661733..150661734 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.433+1102G>T |
single nucleotide variant |
Usher syndrome type 3 [RCV000672444] |
Chr3:150940480 [GRCh38]
Chr3:150658267 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Hearing impairment [RCV001375069]|Usher syndrome type 3 [RCV000671180] |
Chr3:150972707 [GRCh38]
Chr3:150690494 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.254-2082T>G |
single nucleotide variant |
Usher syndrome type 3 [RCV000671519] |
Chr3:150943843 [GRCh38]
Chr3:150661630 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.151_154del (p.Gly51fs) |
deletion |
Usher syndrome type 3 [RCV000671643] |
Chr3:150972555..150972558 [GRCh38]
Chr3:150690342..150690345 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.456_458del (p.Met152del) |
deletion |
Usher syndrome type 3 [RCV000671837] |
Chr3:150928177..150928179 [GRCh38]
Chr3:150645964..150645966 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.336C>G (p.Thr112=) |
single nucleotide variant |
Usher syndrome type 3 [RCV000668143]|not provided [RCV000979978] |
Chr3:150941679 [GRCh38]
Chr3:150659466 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.407G>A (p.Gly136Glu) |
single nucleotide variant |
Retinal dystrophy [RCV003889961]|Usher syndrome type 3 [RCV000671965]|Usher syndrome type 3A [RCV001810476]|not provided [RCV001246418] |
Chr3:150941608 [GRCh38]
Chr3:150659395 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.254-2111del |
deletion |
Usher syndrome type 3 [RCV000668543] |
Chr3:150943872 [GRCh38]
Chr3:150661659 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV003465476]|Retinitis pigmentosa 61 [RCV005034244]|Usher syndrome type 3 [RCV000667382] |
Chr3:150928094 [GRCh38]
Chr3:150645881 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.254-2081G>A |
single nucleotide variant |
Usher syndrome type 3 [RCV000671218] |
Chr3:150943842 [GRCh38]
Chr3:150661629 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.254-2132C>T |
single nucleotide variant |
Usher syndrome type 3 [RCV000667782] |
Chr3:150943893 [GRCh38]
Chr3:150661680 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter) |
single nucleotide variant |
Usher syndrome type 3 [RCV000673059] |
Chr3:150972525 [GRCh38]
Chr3:150690312 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter) |
single nucleotide variant |
Usher syndrome type 3 [RCV000674487] |
Chr3:150972669 [GRCh38]
Chr3:150690456 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.433+1083ACCAGGC[3] |
microsatellite |
Usher syndrome type 3 [RCV000668126] |
Chr3:150940485..150940486 [GRCh38]
Chr3:150658272..150658273 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Usher syndrome type 3 [RCV000668252] |
Chr3:150972706 [GRCh38]
Chr3:150690493 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.254-2099_254-2086del |
deletion |
Usher syndrome type 3 [RCV000665627] |
Chr3:150943847..150943860 [GRCh38]
Chr3:150661634..150661647 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.372del (p.Phe124fs) |
deletion |
Usher syndrome type 3 [RCV000673092] |
Chr3:150941643 [GRCh38]
Chr3:150659430 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_174878.3(CLRN1):c.434-242del |
deletion |
not provided [RCV001574680] |
Chr3:150928443 [GRCh38]
Chr3:150646230 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.433+996T>C |
single nucleotide variant |
not provided [RCV001576647] |
Chr3:150940586 [GRCh38]
Chr3:150658373 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.*537T>C |
single nucleotide variant |
Usher syndrome type 3 [RCV001147514] |
Chr3:150927399 [GRCh38]
Chr3:150645186 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_001195794.1(CLRN1):c.-91C>T |
single nucleotide variant |
Usher syndrome type 3 [RCV001147609]|not provided [RCV004694918] |
Chr3:150972799 [GRCh38]
Chr3:150690586 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile) |
single nucleotide variant |
Retinal dystrophy [RCV003890045]|Usher syndrome type 3 [RCV001146712]|Usher syndrome type 3A [RCV001272455]|not provided [RCV000904991] |
Chr3:150972689 [GRCh38]
Chr3:150690476 [GRCh37]
Chr3:3q25.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_174878.3(CLRN1):c.453C>T (p.Val151=) |
single nucleotide variant |
not provided [RCV000975367] |
Chr3:150928182 [GRCh38]
Chr3:150645969 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.348A>G (p.Thr116=) |
single nucleotide variant |
not provided [RCV000927921] |
Chr3:150941667 [GRCh38]
Chr3:150659454 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.165del (p.Asp55fs) |
deletion |
Retinal dystrophy [RCV001075319] |
Chr3:150972544 [GRCh38]
Chr3:150690331 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.440G>A (p.Cys147Tyr) |
single nucleotide variant |
Retinal dystrophy [RCV001075812] |
Chr3:150928195 [GRCh38]
Chr3:150645982 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.67G>T (p.Gly23Ter) |
single nucleotide variant |
not provided [RCV001039580] |
Chr3:150972642 [GRCh38]
Chr3:150690429 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.154C>T (p.Gln52Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001073292]|not provided [RCV001862800] |
Chr3:150972555 [GRCh38]
Chr3:150690342 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.529G>A (p.Val177Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004973269]|Usher syndrome type 3A [RCV001275851]|not provided [RCV001042182] |
Chr3:150928106 [GRCh38]
Chr3:150645893 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.121_136dup (p.Leu46fs) |
duplication |
Retinitis pigmentosa 61 [RCV003467418]|not provided [RCV000807133] |
Chr3:150972572..150972573 [GRCh38]
Chr3:150690359..150690360 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.254-2060A>C |
single nucleotide variant |
not provided [RCV000978183] |
Chr3:150943821 [GRCh38]
Chr3:150661608 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.624T>G (p.Leu208=) |
single nucleotide variant |
not provided [RCV000943480] |
Chr3:150928011 [GRCh38]
Chr3:150645798 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.540G>A (p.Thr180=) |
single nucleotide variant |
Usher syndrome type 3 [RCV001832249]|not provided [RCV000977607] |
Chr3:150928095 [GRCh38]
Chr3:150645882 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.270C>G (p.Leu90=) |
single nucleotide variant |
Retinal dystrophy [RCV003890143]|Usher syndrome type 3A [RCV001275852]|not provided [RCV000981414] |
Chr3:150941745 [GRCh38]
Chr3:150659532 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| NM_174878.3(CLRN1):c.39C>T (p.Ala13=) |
single nucleotide variant |
not provided [RCV001482166]|not specified [RCV000825732] |
Chr3:150972670 [GRCh38]
Chr3:150690457 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.323T>C (p.Leu108Pro) |
single nucleotide variant |
Usher syndrome type 3 [RCV000782282] |
Chr3:150941692 [GRCh38]
Chr3:150659479 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.254-1947A>G |
single nucleotide variant |
Usher syndrome type 3A [RCV001527491]|not provided [RCV000838379] |
Chr3:150943708 [GRCh38]
Chr3:150661495 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.2(CLRN1):c.-617C>T |
single nucleotide variant |
not provided [RCV000826381] |
Chr3:150973325 [GRCh38]
Chr3:150691112 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.433+1388A>C |
single nucleotide variant |
not provided [RCV000826382] |
Chr3:150940194 [GRCh38]
Chr3:150657981 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.254-2294A>C |
single nucleotide variant |
Usher syndrome type 3A [RCV001527492]|not provided [RCV000833689] |
Chr3:150944055 [GRCh38]
Chr3:150661842 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.254-1924T>A |
single nucleotide variant |
Usher syndrome type 3A [RCV001527490]|not provided [RCV000838380] |
Chr3:150943685 [GRCh38]
Chr3:150661472 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.434-242T>C |
single nucleotide variant |
not provided [RCV000838407] |
Chr3:150928443 [GRCh38]
Chr3:150646230 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.578del (p.Phe193fs) |
deletion |
Retinitis pigmentosa 61 [RCV003467372]|Retinitis pigmentosa 61 [RCV005036155]|not provided [RCV000798573] |
Chr3:150928057 [GRCh38]
Chr3:150645844 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.*835G>T |
single nucleotide variant |
Usher syndrome type 3 [RCV001147511] |
Chr3:150927101 [GRCh38]
Chr3:150644888 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.*1262G>A |
single nucleotide variant |
Usher syndrome type 3 [RCV001146594] |
Chr3:150926674 [GRCh38]
Chr3:150644461 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.*1191T>C |
single nucleotide variant |
Usher syndrome type 3 [RCV001146595]|not provided [RCV001560907] |
Chr3:150926745 [GRCh38]
Chr3:150644532 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NC_000003.12:g.(?_150972446)_(150973009_?)del |
deletion |
not provided [RCV000796127] |
Chr3:150972446..150973009 [GRCh38]
Chr3:150690233..150690796 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.434-291T>A |
single nucleotide variant |
not provided [RCV000831682] |
Chr3:150928492 [GRCh38]
Chr3:150646279 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.434-2A>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000787816] |
Chr3:150928203 [GRCh38]
Chr3:150645990 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.*1181T>C |
single nucleotide variant |
Usher syndrome type 3 [RCV001146596] |
Chr3:150926755 [GRCh38]
Chr3:150644542 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.*298T>C |
single nucleotide variant |
Usher syndrome type 3 [RCV001150856]|not provided [RCV004694940] |
Chr3:150927638 [GRCh38]
Chr3:150645425 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| GRCh37/hg19 3q25.1(chr3:150647395-150665244)x1 |
copy number loss |
not provided [RCV000848268] |
Chr3:150647395..150665244 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.254-2052G>C |
single nucleotide variant |
not provided [RCV000975857] |
Chr3:150943813 [GRCh38]
Chr3:150661600 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.128G>T (p.Gly43Val) |
single nucleotide variant |
Usher syndrome type 3 [RCV000987346]|not provided [RCV001869342] |
Chr3:150972581 [GRCh38]
Chr3:150690368 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 3q25.1(chr3:150534295-151213925)x3 |
copy number gain |
not provided [RCV001005478] |
Chr3:150534295..151213925 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.278dup (p.Val95fs) |
duplication |
not provided [RCV001227176] |
Chr3:150941736..150941737 [GRCh38]
Chr3:150659523..150659524 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.606T>G (p.Asn202Lys) |
single nucleotide variant |
Retinal dystrophy [RCV003887969]|Retinitis pigmentosa 61 [RCV005038009]|Usher syndrome [RCV004690033]|not provided [RCV001246907] |
Chr3:150928029 [GRCh38]
Chr3:150645816 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_174878.3(CLRN1):c.692T>A (p.Met231Lys) |
single nucleotide variant |
not provided [RCV001213353] |
Chr3:150927943 [GRCh38]
Chr3:150645730 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.185A>G (p.Gln62Arg) |
single nucleotide variant |
Usher syndrome type 3 [RCV001146710] |
Chr3:150972524 [GRCh38]
Chr3:150690311 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.254-2A>G |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV004570414]|Usher syndrome type 3 [RCV001199960] |
Chr3:150941763 [GRCh38]
Chr3:150659550 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.570G>A (p.Trp190Ter) |
single nucleotide variant |
not provided [RCV001202099] |
Chr3:150928065 [GRCh38]
Chr3:150645852 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.434-76dup |
duplication |
not provided [RCV001550116] |
Chr3:150928274..150928275 [GRCh38]
Chr3:150646061..150646062 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.434-217A>G |
single nucleotide variant |
not provided [RCV001566589] |
Chr3:150928418 [GRCh38]
Chr3:150646205 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.235A>T (p.Arg79Trp) |
single nucleotide variant |
Retinal dystrophy [RCV004814379] |
Chr3:150972474 [GRCh38]
Chr3:150690261 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.253+225A>G |
single nucleotide variant |
not provided [RCV001635952] |
Chr3:150972231 [GRCh38]
Chr3:150690018 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.254-2119C>G |
single nucleotide variant |
CLRN1-related disorder [RCV004754776]|not provided [RCV001585385] |
Chr3:150943880 [GRCh38]
Chr3:150661667 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| NM_174878.3(CLRN1):c.434-324A>G |
single nucleotide variant |
not provided [RCV001695931] |
Chr3:150928525 [GRCh38]
Chr3:150646312 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.253+304T>C |
single nucleotide variant |
not provided [RCV001558298] |
Chr3:150972152 [GRCh38]
Chr3:150689939 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.433+226T>C |
single nucleotide variant |
not provided [RCV001559671] |
Chr3:150941356 [GRCh38]
Chr3:150659143 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.253+39G>T |
single nucleotide variant |
not provided [RCV001716804] |
Chr3:150972417 [GRCh38]
Chr3:150690204 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.240C>G (p.Pro80=) |
single nucleotide variant |
not provided [RCV000943596] |
Chr3:150972469 [GRCh38]
Chr3:150690256 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.285G>A (p.Val95=) |
single nucleotide variant |
not provided [RCV000931979] |
Chr3:150941730 [GRCh38]
Chr3:150659517 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.460T>C (p.Leu154=) |
single nucleotide variant |
not provided [RCV000981068] |
Chr3:150928175 [GRCh38]
Chr3:150645962 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.254-2052G>T |
single nucleotide variant |
not provided [RCV000906482] |
Chr3:150943813 [GRCh38]
Chr3:150661600 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.*249G>A |
single nucleotide variant |
Usher syndrome type 3 [RCV001144739] |
Chr3:150927687 [GRCh38]
Chr3:150645474 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.502A>T (p.Ile168Phe) |
single nucleotide variant |
Usher syndrome type 3 [RCV001144742]|not provided [RCV003769696] |
Chr3:150928133 [GRCh38]
Chr3:150645920 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.434-3C>A |
single nucleotide variant |
Usher syndrome type 3 [RCV001146708] |
Chr3:150928204 [GRCh38]
Chr3:150645991 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.*815T>C |
single nucleotide variant |
Usher syndrome type 3 [RCV001147512] |
Chr3:150927121 [GRCh38]
Chr3:150644908 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NC_000003.12:g.(?_150940471)_(150945689_?)del |
deletion |
not provided [RCV001031141] |
Chr3:150658258..150663476 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.434G>T (p.Gly145Val) |
single nucleotide variant |
Usher syndrome [RCV003389491]|not provided [RCV001240802] |
Chr3:150928201 [GRCh38]
Chr3:150645988 [GRCh37]
Chr3:3q25.1 |
likely pathogenic|uncertain significance |
| NM_174878.3(CLRN1):c.40G>A (p.Gly14Arg) |
single nucleotide variant |
Usher syndrome type 3 [RCV001834037]|not provided [RCV001234958] |
Chr3:150972669 [GRCh38]
Chr3:150690456 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.*35G>A |
single nucleotide variant |
not provided [RCV001556914] |
Chr3:150927901 [GRCh38]
Chr3:150645688 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NC_000003.12:g.150973036T>C |
single nucleotide variant |
not provided [RCV001574646] |
Chr3:150973036 [GRCh38]
Chr3:150690823 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NC_000003.12:g.150973012G>A |
single nucleotide variant |
not provided [RCV001689112] |
Chr3:150973012 [GRCh38]
Chr3:150690799 [GRCh37]
Chr3:3q25.1 |
benign |
| GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 |
copy number gain |
not provided [RCV002472621] |
Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31 |
pathogenic |
| GRCh37/hg19 3q25.1(chr3:150534296-150908849)x3 |
copy number gain |
not provided [RCV002473873] |
Chr3:150534296..150908849 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.437C>T (p.Ser146Phe) |
single nucleotide variant |
Usher syndrome type 3 [RCV001832495]|not provided [RCV001054421] |
Chr3:150928198 [GRCh38]
Chr3:150645985 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.254-2797_254-2796del |
deletion |
not provided [RCV001687466] |
Chr3:150944557..150944558 [GRCh38]
Chr3:150662344..150662345 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.298A>G (p.Asn100Asp) |
single nucleotide variant |
not provided [RCV001054274] |
Chr3:150941717 [GRCh38]
Chr3:150659504 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 |
copy number gain |
See cases [RCV001194586] |
Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1 |
pathogenic |
| NM_174878.3(CLRN1):c.65T>A (p.Leu22His) |
single nucleotide variant |
Usher syndrome type 3 [RCV001002692] |
Chr3:150972644 [GRCh38]
Chr3:150690431 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.254-2796del |
deletion |
not provided [RCV001534165] |
Chr3:150944557 [GRCh38]
Chr3:150662344 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.*93T>C |
single nucleotide variant |
Usher syndrome type 3 [RCV001144740] |
Chr3:150927843 [GRCh38]
Chr3:150645630 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.*9C>G |
single nucleotide variant |
Usher syndrome type 3 [RCV001144741] |
Chr3:150927927 [GRCh38]
Chr3:150645714 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.349_358del (p.Ala117fs) |
deletion |
Usher syndrome type 3 [RCV001002951] |
Chr3:150941657..150941666 [GRCh38]
Chr3:150659444..150659453 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.151G>C (p.Gly51Arg) |
single nucleotide variant |
not provided [RCV001205168]|not specified [RCV003323816] |
Chr3:150972558 [GRCh38]
Chr3:150690345 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.419T>A (p.Leu140Ter) |
single nucleotide variant |
not provided [RCV001050877] |
Chr3:150941596 [GRCh38]
Chr3:150659383 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.437C>A (p.Ser146Tyr) |
single nucleotide variant |
Usher syndrome type 3 [RCV001002950] |
Chr3:150928198 [GRCh38]
Chr3:150645985 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.400C>T (p.Pro134Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004033718]|Usher syndrome type 3 [RCV001828664]|not provided [RCV001207994] |
Chr3:150941615 [GRCh38]
Chr3:150659402 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.66C>A (p.Leu22=) |
single nucleotide variant |
Usher syndrome type 3 [RCV001272454]|not provided [RCV001045381] |
Chr3:150972643 [GRCh38]
Chr3:150690430 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| NM_174878.3(CLRN1):c.*592G>C |
single nucleotide variant |
Usher syndrome type 3 [RCV001147513] |
Chr3:150927344 [GRCh38]
Chr3:150645131 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.254-649T>G |
single nucleotide variant |
not provided [RCV001034749] |
Chr3:150942410 [GRCh38]
Chr3:150660197 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1 |
copy number loss |
not provided [RCV001005477] |
Chr3:149404255..152786331 [GRCh37]
Chr3:3q25.1-25.2 |
pathogenic |
| NM_174878.3(CLRN1):c.*1032T>C |
single nucleotide variant |
Usher syndrome type 3 [RCV001146597] |
Chr3:150926904 [GRCh38]
Chr3:150644691 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.411G>A (p.Leu137=) |
single nucleotide variant |
Usher syndrome type 3 [RCV001146709]|not provided [RCV002557143] |
Chr3:150941604 [GRCh38]
Chr3:150659391 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| NM_174878.3(CLRN1):c.*1027T>G |
single nucleotide variant |
Usher syndrome type 3 [RCV001147510]|not provided [RCV001563287] |
Chr3:150926909 [GRCh38]
Chr3:150644696 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_001195794.1(CLRN1):c.-141C>T |
single nucleotide variant |
Usher syndrome type 3 [RCV001147610] |
Chr3:150972849 [GRCh38]
Chr3:150690636 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_001195794.1(CLRN1):c.-186A>G |
single nucleotide variant |
Usher syndrome type 3 [RCV001147611] |
Chr3:150972894 [GRCh38]
Chr3:150690681 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_001195794.1(CLRN1):c.-229A>G |
single nucleotide variant |
Usher syndrome type 3 [RCV001147612] |
Chr3:150972937 [GRCh38]
Chr3:150690724 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.92C>G (p.Pro31Arg) |
single nucleotide variant |
Usher syndrome type 3A [RCV001275855]|not provided [RCV001064474] |
Chr3:150972617 [GRCh38]
Chr3:150690404 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.268C>G (p.Leu90Val) |
single nucleotide variant |
Usher syndrome type 3A [RCV001280039] |
Chr3:150941747 [GRCh38]
Chr3:150659534 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.253+6T>C |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV003471314]|Retinitis pigmentosa 61 [RCV005032222]|not provided [RCV002284799] |
Chr3:150972450 [GRCh38]
Chr3:150690237 [GRCh37]
Chr3:3q25.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_174878.3(CLRN1):c.254-2186C>T |
single nucleotide variant |
CLRN1-related disorder [RCV003928821]|not provided [RCV001288125] |
Chr3:150943947 [GRCh38]
Chr3:150661734 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.670A>G (p.Thr224Ala) |
single nucleotide variant |
Retinal dystrophy [RCV003888038]|Usher syndrome type 3 [RCV001836325]|not provided [RCV001340001] |
Chr3:150927965 [GRCh38]
Chr3:150645752 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.24C>A (p.Ile8=) |
single nucleotide variant |
not provided [RCV001422744] |
Chr3:150972685 [GRCh38]
Chr3:150690472 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.276A>G (p.Ala92=) |
single nucleotide variant |
not provided [RCV001422324] |
Chr3:150941739 [GRCh38]
Chr3:150659526 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.244C>A (p.Arg82=) |
single nucleotide variant |
not provided [RCV001414592] |
Chr3:150972465 [GRCh38]
Chr3:150690252 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.433+10A>G |
single nucleotide variant |
Usher syndrome type 3A [RCV001280036]|not provided [RCV001453956] |
Chr3:150941572 [GRCh38]
Chr3:150659359 [GRCh37]
Chr3:3q25.1 |
likely benign|uncertain significance |
| NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser) |
single nucleotide variant |
Usher syndrome [RCV002274178]|Usher syndrome type 3A [RCV001280869] |
Chr3:150972521 [GRCh38]
Chr3:150690308 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.58T>C (p.Cys20Arg) |
single nucleotide variant |
Usher syndrome type 3 [RCV001830146]|not provided [RCV001298009] |
Chr3:150972651 [GRCh38]
Chr3:150690438 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.380C>G (p.Pro127Arg) |
single nucleotide variant |
Melnick-Fraser syndrome [RCV001375119]|not provided [RCV002550204] |
Chr3:150941635 [GRCh38]
Chr3:150659422 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg) |
single nucleotide variant |
Retinitis pigmentosa [RCV002486066]|Usher syndrome type 3A [RCV001280037]|not provided [RCV002542940] |
Chr3:150941609 [GRCh38]
Chr3:150659396 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.208G>T (p.Gly70Cys) |
single nucleotide variant |
Usher syndrome type 3A [RCV001280040]|not provided [RCV001372027] |
Chr3:150972501 [GRCh38]
Chr3:150690288 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.58T>A (p.Cys20Ser) |
single nucleotide variant |
not provided [RCV001350711] |
Chr3:150972651 [GRCh38]
Chr3:150690438 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) |
copy number gain |
Global developmental delay [RCV001352648] |
Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1 |
pathogenic |
| NM_174878.3(CLRN1):c.151_152delinsAT (p.Gly51Met) |
indel |
Retinal dystrophy [RCV004815778] |
Chr3:150972557..150972558 [GRCh38]
Chr3:150690344..150690345 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.322C>T (p.Leu108Phe) |
single nucleotide variant |
Retinitis pigmentosa [RCV002480918]|Usher syndrome type 3A [RCV001280038]|not provided [RCV002541728] |
Chr3:150941693 [GRCh38]
Chr3:150659480 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.240C>T (p.Pro80=) |
single nucleotide variant |
not provided [RCV001457564] |
Chr3:150972469 [GRCh38]
Chr3:150690256 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.117C>T (p.Leu39=) |
single nucleotide variant |
CLRN1-related disorder [RCV003938892]|not provided [RCV001496385] |
Chr3:150972592 [GRCh38]
Chr3:150690379 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.254-15T>G |
single nucleotide variant |
not provided [RCV001492531] |
Chr3:150941776 [GRCh38]
Chr3:150659563 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.93G>A (p.Pro31=) |
single nucleotide variant |
not provided [RCV001437033] |
Chr3:150972616 [GRCh38]
Chr3:150690403 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.162G>C (p.Leu54=) |
single nucleotide variant |
not provided [RCV001393422] |
Chr3:150972547 [GRCh38]
Chr3:150690334 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.414C>T (p.Tyr138=) |
single nucleotide variant |
not provided [RCV001435110] |
Chr3:150941601 [GRCh38]
Chr3:150659388 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.669A>G (p.Thr223=) |
single nucleotide variant |
not provided [RCV001493614] |
Chr3:150927966 [GRCh38]
Chr3:150645753 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.561C>T (p.Thr187=) |
single nucleotide variant |
not provided [RCV001453201] |
Chr3:150928074 [GRCh38]
Chr3:150645861 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.18G>A (p.Lys6=) |
single nucleotide variant |
not provided [RCV001419876] |
Chr3:150972691 [GRCh38]
Chr3:150690478 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.12A>G (p.Gln4=) |
single nucleotide variant |
not provided [RCV001443299] |
Chr3:150972697 [GRCh38]
Chr3:150690484 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.189C>T (p.Tyr63=) |
single nucleotide variant |
not provided [RCV001440945] |
Chr3:150972520 [GRCh38]
Chr3:150690307 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.31dup (p.Cys11fs) |
duplication |
Retinitis pigmentosa 61 [RCV003469761]|not provided [RCV001389583] |
Chr3:150972677..150972678 [GRCh38]
Chr3:150690464..150690465 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.141C>G (p.Val47=) |
single nucleotide variant |
not provided [RCV001425910] |
Chr3:150972568 [GRCh38]
Chr3:150690355 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.82T>C (p.Leu28=) |
single nucleotide variant |
not provided [RCV001444530] |
Chr3:150972627 [GRCh38]
Chr3:150690414 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.606T>C (p.Asn202=) |
single nucleotide variant |
not provided [RCV001441825] |
Chr3:150928029 [GRCh38]
Chr3:150645816 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.615A>T (p.Leu205=) |
single nucleotide variant |
not provided [RCV001447297] |
Chr3:150928020 [GRCh38]
Chr3:150645807 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.292del (p.His98fs) |
deletion |
not provided [RCV001386767] |
Chr3:150941723 [GRCh38]
Chr3:150659510 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.33C>T (p.Cys11=) |
single nucleotide variant |
not provided [RCV001425926] |
Chr3:150972676 [GRCh38]
Chr3:150690463 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.433+765T>G |
single nucleotide variant |
not provided [RCV001612697] |
Chr3:150940817 [GRCh38]
Chr3:150658604 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs) |
insertion |
Retinal dystrophy [RCV004815586]|Retinitis pigmentosa [RCV002506728]|Usher syndrome [RCV004770188]|not provided [RCV001682645] |
Chr3:150972560..150972561 [GRCh38]
Chr3:150690347..150690348 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.66C>T (p.Leu22=) |
single nucleotide variant |
not provided [RCV001462387] |
Chr3:150972643 [GRCh38]
Chr3:150690430 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.306T>C (p.Ile102=) |
single nucleotide variant |
not provided [RCV001502989] |
Chr3:150941709 [GRCh38]
Chr3:150659496 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.225G>T (p.Gly75=) |
single nucleotide variant |
not provided [RCV001486510] |
Chr3:150972484 [GRCh38]
Chr3:150690271 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.111T>C (p.Thr37=) |
single nucleotide variant |
not provided [RCV001460620] |
Chr3:150972598 [GRCh38]
Chr3:150690385 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.160C>T (p.Leu54=) |
single nucleotide variant |
not provided [RCV001501198] |
Chr3:150972549 [GRCh38]
Chr3:150690336 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.393G>T (p.Leu131=) |
single nucleotide variant |
not provided [RCV001453627] |
Chr3:150941622 [GRCh38]
Chr3:150659409 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.612C>T (p.Leu204=) |
single nucleotide variant |
not provided [RCV001478357] |
Chr3:150928023 [GRCh38]
Chr3:150645810 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.195T>G (p.Leu65=) |
single nucleotide variant |
not provided [RCV001450446] |
Chr3:150972514 [GRCh38]
Chr3:150690301 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.540G>T (p.Thr180=) |
single nucleotide variant |
not provided [RCV001482212] |
Chr3:150928095 [GRCh38]
Chr3:150645882 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.54T>C (p.Phe18=) |
single nucleotide variant |
not provided [RCV001471225] |
Chr3:150972655 [GRCh38]
Chr3:150690442 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.594T>C (p.Val198=) |
single nucleotide variant |
not provided [RCV001460978] |
Chr3:150928041 [GRCh38]
Chr3:150645828 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.612C>G (p.Leu204=) |
single nucleotide variant |
not provided [RCV001499613] |
Chr3:150928023 [GRCh38]
Chr3:150645810 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.418T>C (p.Leu140=) |
single nucleotide variant |
not provided [RCV001450506] |
Chr3:150941597 [GRCh38]
Chr3:150659384 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.487C>T (p.His163Tyr) |
single nucleotide variant |
not provided [RCV003105185] |
Chr3:150928148 [GRCh38]
Chr3:150645935 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.356T>C (p.Phe119Ser) |
single nucleotide variant |
Usher syndrome type 3A [RCV001733774]|not provided [RCV003771896] |
Chr3:150941659 [GRCh38]
Chr3:150659446 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.509A>G (p.Asn170Ser) |
single nucleotide variant |
not provided [RCV001765863] |
Chr3:150928126 [GRCh38]
Chr3:150645913 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3 |
copy number gain |
Brachycephaly [RCV001801182] |
Chr3:142729607..157921084 [GRCh37]
Chr3:3q23-25.32 |
pathogenic |
| GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1 |
copy number loss |
not provided [RCV001795847] |
Chr3:143439359..165252122 [GRCh37]
Chr3:3q24-26.1 |
pathogenic |
| NM_174878.3(CLRN1):c.254-2122A>G |
single nucleotide variant |
not provided [RCV001761450] |
Chr3:150943883 [GRCh38]
Chr3:150661670 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.401C>G (p.Pro134Arg) |
single nucleotide variant |
Retinal dystrophy [RCV004818741] |
Chr3:150941614 [GRCh38]
Chr3:150659401 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV003470922]|Retinitis pigmentosa 61 [RCV005038333]|Usher syndrome [RCV001806792]|not provided [RCV002541387] |
Chr3:150972519 [GRCh38]
Chr3:150690306 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.458T>G (p.Ile153Arg) |
single nucleotide variant |
Retinal dystrophy [RCV004817428] |
Chr3:150928177 [GRCh38]
Chr3:150645964 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.542A>G (p.Gln181Arg) |
single nucleotide variant |
not provided [RCV002022749] |
Chr3:150928093 [GRCh38]
Chr3:150645880 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.697T>C (p.Ter233Arg) |
single nucleotide variant |
Usher syndrome type 3A [RCV001823290] |
Chr3:150927938 [GRCh38]
Chr3:150645725 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.181del (p.Met61fs) |
deletion |
not provided [RCV001946586] |
Chr3:150972528 [GRCh38]
Chr3:150690315 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.557C>A (p.Thr186Asn) |
single nucleotide variant |
not provided [RCV002039377] |
Chr3:150928078 [GRCh38]
Chr3:150645865 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.494del (p.Leu164_Ser165insTer) |
deletion |
not provided [RCV001945904] |
Chr3:150928141 [GRCh38]
Chr3:150645928 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| GRCh37/hg19 3q25.1(chr3:150641476-150665244) |
copy number loss |
not specified [RCV002053376] |
Chr3:150641476..150665244 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.221G>A (p.Cys74Tyr) |
single nucleotide variant |
not provided [RCV001913805] |
Chr3:150972488 [GRCh38]
Chr3:150690275 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) |
copy number gain |
not specified [RCV002053375] |
Chr3:145486960..160504834 [GRCh37]
Chr3:3q24-25.33 |
pathogenic |
| NM_174878.3(CLRN1):c.83T>G (p.Leu28Trp) |
single nucleotide variant |
not provided [RCV001948573] |
Chr3:150972626 [GRCh38]
Chr3:150690413 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.165C>A (p.Asp55Glu) |
single nucleotide variant |
not provided [RCV001968065] |
Chr3:150972544 [GRCh38]
Chr3:150690331 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.584G>A (p.Cys195Tyr) |
single nucleotide variant |
not provided [RCV002020671] |
Chr3:150928051 [GRCh38]
Chr3:150645838 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NC_000003.11:g.(?_150645723)_(150690495_?)dup |
duplication |
not provided [RCV001925599] |
Chr3:150645723..150690495 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.513T>A (p.Tyr171Ter) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV003471164]|not provided [RCV001962952] |
Chr3:150928122 [GRCh38]
Chr3:150645909 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.83T>C (p.Leu28Ser) |
single nucleotide variant |
not provided [RCV001959395] |
Chr3:150972626 [GRCh38]
Chr3:150690413 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.331T>A (p.Leu111Ile) |
single nucleotide variant |
not provided [RCV002013672] |
Chr3:150941684 [GRCh38]
Chr3:150659471 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.290T>A (p.Ile97Asn) |
single nucleotide variant |
not provided [RCV001883760] |
Chr3:150941725 [GRCh38]
Chr3:150659512 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.401C>T (p.Pro134Leu) |
single nucleotide variant |
Retinal dystrophy [RCV004815709]|not provided [RCV001880953] |
Chr3:150941614 [GRCh38]
Chr3:150659401 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.682G>A (p.Ala228Thr) |
single nucleotide variant |
not provided [RCV001992548] |
Chr3:150927953 [GRCh38]
Chr3:150645740 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.41G>A (p.Gly14Glu) |
single nucleotide variant |
not provided [RCV001922470] |
Chr3:150972668 [GRCh38]
Chr3:150690455 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.563C>A (p.Ser188Ter) |
single nucleotide variant |
Usher syndrome [RCV005238105]|not provided [RCV001993130] |
Chr3:150928072 [GRCh38]
Chr3:150645859 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.269T>A (p.Leu90His) |
single nucleotide variant |
not provided [RCV002033686] |
Chr3:150941746 [GRCh38]
Chr3:150659533 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.433+1G>C |
single nucleotide variant |
not provided [RCV001994728] |
Chr3:150941581 [GRCh38]
Chr3:150659368 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.565T>C (p.Phe189Leu) |
single nucleotide variant |
not provided [RCV001931415] |
Chr3:150928070 [GRCh38]
Chr3:150645857 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.8G>A (p.Ser3Asn) |
single nucleotide variant |
not provided [RCV001958105] |
Chr3:150972701 [GRCh38]
Chr3:150690488 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.637T>C (p.Phe213Leu) |
single nucleotide variant |
not provided [RCV001876946] |
Chr3:150927998 [GRCh38]
Chr3:150645785 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.253+1G>A |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV005032114]|not provided [RCV002016936] |
Chr3:150972455 [GRCh38]
Chr3:150690242 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.354C>A (p.Phe118Leu) |
single nucleotide variant |
not provided [RCV002018086] |
Chr3:150941661 [GRCh38]
Chr3:150659448 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NC_000003.11:g.(?_148447967)_(151176497_?)del |
deletion |
Glycogen storage disease XV [RCV003120787] |
Chr3:148447967..151176497 [GRCh37]
Chr3:3q24-25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.254-553G>A |
single nucleotide variant |
not provided [RCV002049739] |
Chr3:150942314 [GRCh38]
Chr3:150660101 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.294C>A (p.His98Gln) |
single nucleotide variant |
not provided [RCV001937743] |
Chr3:150941721 [GRCh38]
Chr3:150659508 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.75G>A (p.Val25=) |
single nucleotide variant |
not provided [RCV002088246] |
Chr3:150972634 [GRCh38]
Chr3:150690421 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.433+7A>G |
single nucleotide variant |
not provided [RCV002073863] |
Chr3:150941575 [GRCh38]
Chr3:150659362 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.246G>A (p.Arg82=) |
single nucleotide variant |
not provided [RCV002073469] |
Chr3:150972463 [GRCh38]
Chr3:150690250 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.405A>G (p.Leu135=) |
single nucleotide variant |
not provided [RCV002171053] |
Chr3:150941610 [GRCh38]
Chr3:150659397 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.675T>C (p.Asn225=) |
single nucleotide variant |
not provided [RCV002134590] |
Chr3:150927960 [GRCh38]
Chr3:150645747 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.186G>A (p.Gln62=) |
single nucleotide variant |
not provided [RCV002209151] |
Chr3:150972523 [GRCh38]
Chr3:150690310 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.321C>T (p.Ile107=) |
single nucleotide variant |
not provided [RCV002079944] |
Chr3:150941694 [GRCh38]
Chr3:150659481 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.495A>G (p.Ser165=) |
single nucleotide variant |
not provided [RCV002187199] |
Chr3:150928140 [GRCh38]
Chr3:150645927 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.254-7T>C |
single nucleotide variant |
not provided [RCV002079325] |
Chr3:150941768 [GRCh38]
Chr3:150659555 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.253+7A>G |
single nucleotide variant |
not provided [RCV002193476] |
Chr3:150972449 [GRCh38]
Chr3:150690236 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.357C>T (p.Phe119=) |
single nucleotide variant |
not provided [RCV002138593] |
Chr3:150941658 [GRCh38]
Chr3:150659445 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.254-8A>G |
single nucleotide variant |
not provided [RCV002178576] |
Chr3:150941769 [GRCh38]
Chr3:150659556 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.663A>G (p.Ala221=) |
single nucleotide variant |
not provided [RCV002155438] |
Chr3:150927972 [GRCh38]
Chr3:150645759 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.489C>T (p.His163=) |
single nucleotide variant |
not provided [RCV002121726] |
Chr3:150928146 [GRCh38]
Chr3:150645933 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.253+7A>T |
single nucleotide variant |
not provided [RCV002198861] |
Chr3:150972449 [GRCh38]
Chr3:150690236 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.433+9A>C |
single nucleotide variant |
not provided [RCV002203022] |
Chr3:150941573 [GRCh38]
Chr3:150659360 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.564A>T (p.Ser188=) |
single nucleotide variant |
not provided [RCV002180158] |
Chr3:150928071 [GRCh38]
Chr3:150645858 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.254-19A>G |
single nucleotide variant |
not provided [RCV002083122] |
Chr3:150941780 [GRCh38]
Chr3:150659567 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.220T>A (p.Cys74Ser) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV004797196] |
Chr3:150972489 [GRCh38]
Chr3:150690276 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.500A>G (p.Lys167Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003101658]|not provided [RCV002287976] |
Chr3:150928135 [GRCh38]
Chr3:150645922 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.144T>C (p.Asn48=) |
single nucleotide variant |
not provided [RCV002858293] |
Chr3:150972565 [GRCh38]
Chr3:150690352 [GRCh37]
Chr3:3q25.1 |
likely benign |
| GRCh37/hg19 3q25.1(chr3:150546825-150878912)x4 |
copy number gain |
not provided [RCV002473467] |
Chr3:150546825..150878912 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.385G>A (p.Glu129Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002860717] |
Chr3:150941630 [GRCh38]
Chr3:150659417 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.578T>G (p.Phe193Cys) |
single nucleotide variant |
not provided [RCV003032893] |
Chr3:150928057 [GRCh38]
Chr3:150645844 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.434-7G>A |
single nucleotide variant |
not provided [RCV002681666] |
Chr3:150928208 [GRCh38]
Chr3:150645995 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.591del (p.Phe197fs) |
deletion |
Retinitis pigmentosa 61 [RCV003465824]|not provided [RCV002750125] |
Chr3:150928044 [GRCh38]
Chr3:150645831 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.400C>G (p.Pro134Ala) |
single nucleotide variant |
not provided [RCV002690328] |
Chr3:150941615 [GRCh38]
Chr3:150659402 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.236G>A (p.Arg79Lys) |
single nucleotide variant |
not provided [RCV003033274] |
Chr3:150972473 [GRCh38]
Chr3:150690260 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.693G>A (p.Met231Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002753833] |
Chr3:150927942 [GRCh38]
Chr3:150645729 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.668C>T (p.Thr223Ile) |
single nucleotide variant |
Retinal dystrophy [RCV003889158]|not provided [RCV002755690] |
Chr3:150927967 [GRCh38]
Chr3:150645754 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.492C>T (p.Leu164=) |
single nucleotide variant |
not provided [RCV002991743] |
Chr3:150928143 [GRCh38]
Chr3:150645930 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.654T>G (p.Ser218=) |
single nucleotide variant |
not provided [RCV002926714] |
Chr3:150927981 [GRCh38]
Chr3:150645768 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.284T>G (p.Val95Gly) |
single nucleotide variant |
not provided [RCV003018685] |
Chr3:150941731 [GRCh38]
Chr3:150659518 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.282A>C (p.Pro94=) |
single nucleotide variant |
not provided [RCV002639079] |
Chr3:150941733 [GRCh38]
Chr3:150659520 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.510T>C (p.Asn170=) |
single nucleotide variant |
not provided [RCV003036300] |
Chr3:150928125 [GRCh38]
Chr3:150645912 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.253+16A>G |
single nucleotide variant |
not provided [RCV002619643] |
Chr3:150972440 [GRCh38]
Chr3:150690227 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.349G>A (p.Ala117Thr) |
single nucleotide variant |
not provided [RCV003079692] |
Chr3:150941666 [GRCh38]
Chr3:150659453 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.364A>T (p.Asn122Tyr) |
single nucleotide variant |
not provided [RCV002620791] |
Chr3:150941651 [GRCh38]
Chr3:150659438 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.253+19T>A |
single nucleotide variant |
not provided [RCV002846951] |
Chr3:150972437 [GRCh38]
Chr3:150690224 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.527A>T (p.Tyr176Phe) |
single nucleotide variant |
not provided [RCV002619145] |
Chr3:150928108 [GRCh38]
Chr3:150645895 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.63C>T (p.Ala21=) |
single nucleotide variant |
not provided [RCV002695871] |
Chr3:150972646 [GRCh38]
Chr3:150690433 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.567C>G (p.Phe189Leu) |
single nucleotide variant |
not provided [RCV003077625] |
Chr3:150928068 [GRCh38]
Chr3:150645855 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.387A>C (p.Glu129Asp) |
single nucleotide variant |
not provided [RCV003078040] |
Chr3:150941628 [GRCh38]
Chr3:150659415 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.488_492del (p.His163fs) |
deletion |
not provided [RCV003017994] |
Chr3:150928143..150928147 [GRCh38]
Chr3:150645930..150645934 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.528T>C (p.Tyr176=) |
single nucleotide variant |
not provided [RCV002885542] |
Chr3:150928107 [GRCh38]
Chr3:150645894 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.674A>G (p.Asn225Ser) |
single nucleotide variant |
not provided [RCV002761662] |
Chr3:150927961 [GRCh38]
Chr3:150645748 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.528T>A (p.Tyr176Ter) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV005034454]|not provided [RCV002886253] |
Chr3:150928107 [GRCh38]
Chr3:150645894 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.462G>A (p.Leu154=) |
single nucleotide variant |
not provided [RCV002933341] |
Chr3:150928173 [GRCh38]
Chr3:150645960 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.326T>C (p.Ile109Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004612238]|not provided [RCV002701289] |
Chr3:150941689 [GRCh38]
Chr3:150659476 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.139G>A (p.Val47Ile) |
single nucleotide variant |
not provided [RCV003022567] |
Chr3:150972570 [GRCh38]
Chr3:150690357 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.88A>T (p.Thr30Ser) |
single nucleotide variant |
not provided [RCV002931856] |
Chr3:150972621 [GRCh38]
Chr3:150690408 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.160C>G (p.Leu54Val) |
single nucleotide variant |
not provided [RCV003082442] |
Chr3:150972549 [GRCh38]
Chr3:150690336 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.253+8G>T |
single nucleotide variant |
not provided [RCV002890093] |
Chr3:150972448 [GRCh38]
Chr3:150690235 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.94T>C (p.Leu32=) |
single nucleotide variant |
not provided [RCV003005948] |
Chr3:150972615 [GRCh38]
Chr3:150690402 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.524C>A (p.Thr175Asn) |
single nucleotide variant |
not provided [RCV002801036] |
Chr3:150928111 [GRCh38]
Chr3:150645898 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.295G>A (p.Val99Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004963454]|not provided [RCV002602501] |
Chr3:150941720 [GRCh38]
Chr3:150659507 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.176del (p.Gly59fs) |
deletion |
not provided [RCV002651755] |
Chr3:150972533 [GRCh38]
Chr3:150690320 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.149C>A (p.Ser50Ter) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV003466001]|not provided [RCV002651756] |
Chr3:150972560 [GRCh38]
Chr3:150690347 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.244C>G (p.Arg82Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004978608]|not provided [RCV003087019] |
Chr3:150972465 [GRCh38]
Chr3:150690252 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.304A>G (p.Ile102Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002940249] |
Chr3:150941711 [GRCh38]
Chr3:150659498 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.609G>A (p.Gly203=) |
single nucleotide variant |
not provided [RCV002676137] |
Chr3:150928026 [GRCh38]
Chr3:150645813 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.451G>A (p.Val151Ile) |
single nucleotide variant |
not provided [RCV003047752] |
Chr3:150928184 [GRCh38]
Chr3:150645971 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.671C>T (p.Thr224Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003065627]|not provided [RCV003065626] |
Chr3:150927964 [GRCh38]
Chr3:150645751 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.253+10A>G |
single nucleotide variant |
not provided [RCV003009797] |
Chr3:150972446 [GRCh38]
Chr3:150690233 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.190G>C (p.Gly64Arg) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV004571222]|not provided [RCV002716617] |
Chr3:150972519 [GRCh38]
Chr3:150690306 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.319A>G (p.Ile107Val) |
single nucleotide variant |
not provided [RCV003089457] |
Chr3:150941696 [GRCh38]
Chr3:150659483 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.156G>A (p.Gln52=) |
single nucleotide variant |
not provided [RCV002899151] |
Chr3:150972553 [GRCh38]
Chr3:150690340 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.359T>C (p.Met120Thr) |
single nucleotide variant |
not provided [RCV002717255] |
Chr3:150941656 [GRCh38]
Chr3:150659443 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.31T>C (p.Cys11Arg) |
single nucleotide variant |
not provided [RCV002746011] |
Chr3:150972678 [GRCh38]
Chr3:150690465 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.589T>C (p.Phe197Leu) |
single nucleotide variant |
not provided [RCV002604475] |
Chr3:150928046 [GRCh38]
Chr3:150645833 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.70G>A (p.Val24Ile) |
single nucleotide variant |
not provided [RCV002635430] |
Chr3:150972639 [GRCh38]
Chr3:150690426 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.423C>T (p.Ser141=) |
single nucleotide variant |
not provided [RCV003051810] |
Chr3:150941592 [GRCh38]
Chr3:150659379 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.245G>A (p.Arg82Gln) |
single nucleotide variant |
not provided [RCV003072464] |
Chr3:150972464 [GRCh38]
Chr3:150690251 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.196T>C (p.Phe66Leu) |
single nucleotide variant |
not provided [RCV003072540] |
Chr3:150972513 [GRCh38]
Chr3:150690300 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.254-7del |
deletion |
not provided [RCV003051852] |
Chr3:150941768 [GRCh38]
Chr3:150659555 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.494C>T (p.Ser165Leu) |
single nucleotide variant |
not provided [RCV003069409] |
Chr3:150928141 [GRCh38]
Chr3:150645928 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.379C>A (p.Pro127Thr) |
single nucleotide variant |
not provided [RCV003093343] |
Chr3:150941636 [GRCh38]
Chr3:150659423 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.539C>T (p.Thr180Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003072836]|not provided [RCV003072837] |
Chr3:150928096 [GRCh38]
Chr3:150645883 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.433+3A>G |
single nucleotide variant |
not provided [RCV003073413] |
Chr3:150941579 [GRCh38]
Chr3:150659366 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.476T>C (p.Val159Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003219424] |
Chr3:150928159 [GRCh38]
Chr3:150645946 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.337A>G (p.Met113Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003210506] |
Chr3:150941678 [GRCh38]
Chr3:150659465 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.271A>T (p.Lys91Ter) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV003468484] |
Chr3:150941744 [GRCh38]
Chr3:150659531 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.209dup (p.Val71fs) |
duplication |
Retinitis pigmentosa 61 [RCV003468485] |
Chr3:150972499..150972500 [GRCh38]
Chr3:150690286..150690287 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.468C>T (p.Ala156=) |
single nucleotide variant |
not provided [RCV003692029] |
Chr3:150928167 [GRCh38]
Chr3:150645954 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.496G>T (p.Glu166Ter) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV003468490] |
Chr3:150928139 [GRCh38]
Chr3:150645926 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.150_151del (p.Gly51fs) |
deletion |
Retinitis pigmentosa 61 [RCV003468482] |
Chr3:150972558..150972559 [GRCh38]
Chr3:150690345..150690346 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.591dup (p.Val198fs) |
duplication |
Retinitis pigmentosa 61 [RCV003468487] |
Chr3:150928043..150928044 [GRCh38]
Chr3:150645830..150645831 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.129del (p.Ala44fs) |
deletion |
Retinitis pigmentosa 61 [RCV003468481] |
Chr3:150972580 [GRCh38]
Chr3:150690367 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.433+1G>T |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV003468488] |
Chr3:150941581 [GRCh38]
Chr3:150659368 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.109dup (p.Thr37fs) |
duplication |
Retinitis pigmentosa 61 [RCV003468489] |
Chr3:150972599..150972600 [GRCh38]
Chr3:150690386..150690387 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| Single allele |
duplication |
not provided [RCV003448680] |
Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29 |
pathogenic |
| NM_174878.3(CLRN1):c.95T>A (p.Leu32Ter) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV003468480]|not provided [RCV003661066] |
Chr3:150972614 [GRCh38]
Chr3:150690401 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.195_201dup (p.Gly68fs) |
duplication |
Retinitis pigmentosa 61 [RCV003468483] |
Chr3:150972507..150972508 [GRCh38]
Chr3:150690294..150690295 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.555T>A (p.Tyr185Ter) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV003468486]|not provided [RCV003689104] |
Chr3:150928080 [GRCh38]
Chr3:150645867 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.297C>A (p.Val99=) |
single nucleotide variant |
not provided [RCV003578140] |
Chr3:150941718 [GRCh38]
Chr3:150659505 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.434-19C>T |
single nucleotide variant |
not provided [RCV003696255] |
Chr3:150928220 [GRCh38]
Chr3:150646007 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.696C>T (p.Tyr232=) |
single nucleotide variant |
not provided [RCV003579020] |
Chr3:150927939 [GRCh38]
Chr3:150645726 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.254-2A>T |
single nucleotide variant |
not provided [RCV003690167] |
Chr3:150941763 [GRCh38]
Chr3:150659550 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.433+9A>G |
single nucleotide variant |
not provided [RCV003687748] |
Chr3:150941573 [GRCh38]
Chr3:150659360 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.60T>A (p.Cys20Ter) |
single nucleotide variant |
not provided [RCV003716085] |
Chr3:150972649 [GRCh38]
Chr3:150690436 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.433+20T>G |
single nucleotide variant |
not provided [RCV003691256] |
Chr3:150941562 [GRCh38]
Chr3:150659349 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.609G>T (p.Gly203=) |
single nucleotide variant |
not provided [RCV003576584] |
Chr3:150928026 [GRCh38]
Chr3:150645813 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.253+17T>G |
single nucleotide variant |
not provided [RCV003691879] |
Chr3:150972439 [GRCh38]
Chr3:150690226 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.254-8_254-4del |
deletion |
not provided [RCV003550064] |
Chr3:150941765..150941769 [GRCh38]
Chr3:150659552..150659556 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.639C>A (p.Phe213Leu) |
single nucleotide variant |
Retinal dystrophy [RCV004816136] |
Chr3:150927996 [GRCh38]
Chr3:150645783 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.253+14G>A |
single nucleotide variant |
not provided [RCV003740388] |
Chr3:150972442 [GRCh38]
Chr3:150690229 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.81C>T (p.Ala27=) |
single nucleotide variant |
not provided [RCV003550218] |
Chr3:150972628 [GRCh38]
Chr3:150690415 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.433+19C>T |
single nucleotide variant |
not provided [RCV003670183] |
Chr3:150941563 [GRCh38]
Chr3:150659350 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.127G>C (p.Gly43Arg) |
single nucleotide variant |
not provided [RCV003671446] |
Chr3:150972582 [GRCh38]
Chr3:150690369 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.22A>G (p.Ile8Val) |
single nucleotide variant |
not provided [RCV003666481] |
Chr3:150972687 [GRCh38]
Chr3:150690474 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.619C>A (p.Arg207=) |
single nucleotide variant |
not provided [RCV003838587] |
Chr3:150928016 [GRCh38]
Chr3:150645803 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.561C>A (p.Thr187=) |
single nucleotide variant |
not provided [RCV003850192] |
Chr3:150928074 [GRCh38]
Chr3:150645861 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.433+18C>A |
single nucleotide variant |
not provided [RCV003832477] |
Chr3:150941564 [GRCh38]
Chr3:150659351 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.366T>C (p.Asn122=) |
single nucleotide variant |
not provided [RCV003731364] |
Chr3:150941649 [GRCh38]
Chr3:150659436 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.434-12C>G |
single nucleotide variant |
not provided [RCV003846387] |
Chr3:150928213 [GRCh38]
Chr3:150646000 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.433+15C>A |
single nucleotide variant |
not provided [RCV003554038] |
Chr3:150941567 [GRCh38]
Chr3:150659354 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.556del (p.Thr186fs) |
deletion |
not provided [RCV003568750] |
Chr3:150928079 [GRCh38]
Chr3:150645866 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.588T>C (p.Phe196=) |
single nucleotide variant |
not provided [RCV003721128] |
Chr3:150928047 [GRCh38]
Chr3:150645834 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.253+11A>G |
single nucleotide variant |
not provided [RCV003730819] |
Chr3:150972445 [GRCh38]
Chr3:150690232 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.486T>C (p.His162=) |
single nucleotide variant |
not provided [RCV003867164] |
Chr3:150928149 [GRCh38]
Chr3:150645936 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.294C>T (p.His98=) |
single nucleotide variant |
not provided [RCV003865451] |
Chr3:150941721 [GRCh38]
Chr3:150659508 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.434-16G>T |
single nucleotide variant |
not provided [RCV003866769] |
Chr3:150928217 [GRCh38]
Chr3:150646004 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.138C>T (p.Leu46=) |
single nucleotide variant |
not provided [RCV003679278] |
Chr3:150972571 [GRCh38]
Chr3:150690358 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.60T>C (p.Cys20=) |
single nucleotide variant |
not provided [RCV003710363] |
Chr3:150972649 [GRCh38]
Chr3:150690436 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.138del (p.Val47fs) |
deletion |
Retinitis pigmentosa 61 [RCV004574122]|not provided [RCV003567939] |
Chr3:150972571 [GRCh38]
Chr3:150690358 [GRCh37]
Chr3:3q25.1 |
pathogenic|likely pathogenic |
| NM_174878.3(CLRN1):c.636G>A (p.Gln212=) |
single nucleotide variant |
not provided [RCV003709094] |
Chr3:150927999 [GRCh38]
Chr3:150645786 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.153G>C (p.Gly51=) |
single nucleotide variant |
not provided [RCV003704325] |
Chr3:150972556 [GRCh38]
Chr3:150690343 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.433+1086A>G |
single nucleotide variant |
Retinal dystrophy [RCV003890837] |
Chr3:150940496 [GRCh38]
Chr3:150658283 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.350C>T (p.Ala117Val) |
single nucleotide variant |
Retinal dystrophy [RCV003890840] |
Chr3:150941665 [GRCh38]
Chr3:150659452 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.253+2T>C |
single nucleotide variant |
Retinal dystrophy [RCV003890841] |
Chr3:150972454 [GRCh38]
Chr3:150690241 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.433+1072G>T |
single nucleotide variant |
Retinal dystrophy [RCV003890839] |
Chr3:150940510 [GRCh38]
Chr3:150658297 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.254-2216C>A |
single nucleotide variant |
CLRN1-related disorder [RCV003916808] |
Chr3:150943977 [GRCh38]
Chr3:150661764 [GRCh37]
Chr3:3q25.1 |
benign |
| NM_174878.3(CLRN1):c.100A>G (p.Ile34Val) |
single nucleotide variant |
Retinal dystrophy [RCV003890842] |
Chr3:150972609 [GRCh38]
Chr3:150690396 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.433+1083A>G |
single nucleotide variant |
Retinal dystrophy [RCV003890838] |
Chr3:150940499 [GRCh38]
Chr3:150658286 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.185A>C (p.Gln62Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004437315] |
Chr3:150972524 [GRCh38]
Chr3:150690311 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.692T>C (p.Met231Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004437317] |
Chr3:150927943 [GRCh38]
Chr3:150645730 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.186G>C (p.Gln62His) |
single nucleotide variant |
Inborn genetic diseases [RCV004437316] |
Chr3:150972523 [GRCh38]
Chr3:150690310 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.152G>T (p.Gly51Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004613157] |
Chr3:150972557 [GRCh38]
Chr3:150690344 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.55del (p.Ala19fs) |
deletion |
Retinitis pigmentosa 61 [RCV004575667] |
Chr3:150972654 [GRCh38]
Chr3:150690441 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.190_200dup (p.His67fs) |
duplication |
Retinitis pigmentosa 61 [RCV004575669] |
Chr3:150972508..150972509 [GRCh38]
Chr3:150690295..150690296 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.341del (p.Val114fs) |
deletion |
Usher syndrome type 3A [RCV004697321] |
Chr3:150941674 [GRCh38]
Chr3:150659461 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.254-2117G>C |
single nucleotide variant |
not provided [RCV004778832] |
Chr3:150943878 [GRCh38]
Chr3:150661665 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.254-2139G>A |
single nucleotide variant |
CLRN1-related disorder [RCV004755494] |
Chr3:150943900 [GRCh38]
Chr3:150661687 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.149_152delinsGTCCAAT (p.Ser50_Gly51delinsCysProMet) |
indel |
not specified [RCV004766822] |
Chr3:150972557..150972560 [GRCh38]
Chr3:150690344..150690347 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.118T>C (p.Cys40Arg) |
single nucleotide variant |
Usher syndrome type 3A [RCV005052965] |
Chr3:150972591 [GRCh38]
Chr3:150690378 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.227del (p.Leu76fs) |
deletion |
Usher syndrome type 3A [RCV005052966] |
Chr3:150972482 [GRCh38]
Chr3:150690269 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.293A>T (p.His98Leu) |
single nucleotide variant |
Usher syndrome type 3A [RCV005052967] |
Chr3:150941722 [GRCh38]
Chr3:150659509 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.384del (p.Phe128fs) |
deletion |
Usher syndrome type 3A [RCV005052968] |
Chr3:150941631 [GRCh38]
Chr3:150659418 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.96del (p.Leu32fs) |
deletion |
Usher syndrome type 3A [RCV005052969] |
Chr3:150972613 [GRCh38]
Chr3:150690400 [GRCh37]
Chr3:3q25.1 |
pathogenic |
| NM_174878.3(CLRN1):c.569G>A (p.Trp190Ter) |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV005035046] |
Chr3:150928066 [GRCh38]
Chr3:150645853 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.64dup (p.Leu22fs) |
duplication |
Retinitis pigmentosa 61 [RCV005035047] |
Chr3:150972644..150972645 [GRCh38]
Chr3:150690431..150690432 [GRCh37]
Chr3:3q25.1 |
likely pathogenic |
| GRCh37/hg19 3q24-25.1(chr3:146504503-151662391)x1 |
copy number loss |
not provided [RCV004819285] |
Chr3:146504503..151662391 [GRCh37]
Chr3:3q24-25.1 |
likely pathogenic |
| NM_174878.3(CLRN1):c.335C>A (p.Thr112Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004974000] |
Chr3:150941680 [GRCh38]
Chr3:150659467 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.523A>T (p.Thr175Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004973999] |
Chr3:150928112 [GRCh38]
Chr3:150645899 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.402C>T (p.Pro134=) |
single nucleotide variant |
not provided [RCV005146156] |
Chr3:150941613 [GRCh38]
Chr3:150659400 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.183G>T (p.Met61Ile) |
single nucleotide variant |
not provided [RCV005173093] |
Chr3:150972526 [GRCh38]
Chr3:150690313 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.253+20G>T |
single nucleotide variant |
not provided [RCV005083054] |
Chr3:150972436 [GRCh38]
Chr3:150690223 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.642T>G (p.Pro214=) |
single nucleotide variant |
not provided [RCV005115325] |
Chr3:150927993 [GRCh38]
Chr3:150645780 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.254-2131G>A |
single nucleotide variant |
not provided [RCV005236135] |
Chr3:150943892 [GRCh38]
Chr3:150661679 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.661G>A (p.Ala221Thr) |
single nucleotide variant |
not provided [RCV005236330] |
Chr3:150927974 [GRCh38]
Chr3:150645761 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.213G>A (p.Val71=) |
single nucleotide variant |
not provided [RCV005116381] |
Chr3:150972496 [GRCh38]
Chr3:150690283 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.426C>T (p.Phe142=) |
single nucleotide variant |
not provided [RCV005118846] |
Chr3:150941589 [GRCh38]
Chr3:150659376 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.148T>G (p.Ser50Ala) |
single nucleotide variant |
not provided [RCV005204803] |
Chr3:150972561 [GRCh38]
Chr3:150690348 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.630A>G (p.Gly210=) |
single nucleotide variant |
not provided [RCV005115220] |
Chr3:150928005 [GRCh38]
Chr3:150645792 [GRCh37]
Chr3:3q25.1 |
likely benign |
| NM_174878.3(CLRN1):c.151G>A (p.Gly51Arg) |
single nucleotide variant |
not specified [RCV004766477] |
Chr3:150972558 [GRCh38]
Chr3:150690345 [GRCh37]
Chr3:3q25.1 |
uncertain significance |
| NM_174878.3(CLRN1):c.433+1G>A |
single nucleotide variant |
Retinitis pigmentosa 61 [RCV003467324]|Usher syndrome type 3 [RCV000791320]|not provided [RCV001387204] |
Chr3:150941581 [GRCh38]
Chr3:150659368 [GRCh37]
Chr3:3q25.1 |
pathogenic |
