NM_000539.3(RHO):c.482G>A (p.Trp161Ter) |
single nucleotide variant |
Retinitis pigmentosa 4, autosomal recessive [RCV000022756]|not provided [RCV001381858] |
Chr3:129530996 [GRCh38] Chr3:129249839 [GRCh37] Chr3:3q22.1 |
pathogenic |
I255del |
deletion |
Retinitis pigmentosa 4 [RCV000013891] |
Chr3:3q21-q24 |
pathogenic |
RHO, 12-BP DEL, EX1 |
deletion |
Retinitis pigmentosa 4 [RCV000013906] |
Chr3:3q21-q24 |
pathogenic |
RHO, IVS4AS, G-T, +1 |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000013914] |
Chr3:3q21-q24 |
pathogenic |
NM_000539.3(RHO):c.759G>T (p.Met253Ile) |
single nucleotide variant |
Pigmentary retinal dystrophy [RCV001196773]|Retinal dystrophy [RCV004817958]|Retinitis pigmentosa 4 [RCV001265204]|Retinitis pigmentosa [RCV000778676]|not provided [RCV000729715] |
Chr3:129532595 [GRCh38] Chr3:129251438 [GRCh37] Chr3:3q22.1 |
likely pathogenic|likely benign|uncertain significance |
NM_000539.3(RHO):c.549dup (p.Gln184fs) |
duplication |
Neuropathy, congenital hypomyelinating, 2 [RCV000722093] |
Chr3:129532268..129532269 [GRCh38] Chr3:129251111..129251112 [GRCh37] Chr1:1q23.3 Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) |
single nucleotide variant |
Retinal dystrophy [RCV004815199]|Retinitis pigmentosa 4 [RCV001265175]|Retinitis pigmentosa [RCV000132596]|not provided [RCV001007975] |
Chr3:129528913 [GRCh38] Chr3:129247756 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.520G>A (p.Gly174Ser) |
single nucleotide variant |
Retinal dystrophy [RCV003888543]|Retinitis pigmentosa [RCV000132599]|not provided [RCV003556175] |
Chr3:129531034 [GRCh38] Chr3:129249877 [GRCh37] Chr3:3q22.1 |
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000539.3(RHO):c.562G>A (p.Gly188Arg) |
single nucleotide variant |
Retinal dystrophy [RCV003888544]|Retinitis pigmentosa [RCV000132600]|not provided [RCV001384606] |
Chr3:129532282 [GRCh38] Chr3:129251125 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.891C>T (p.Ser297=) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000294558]|Retinal dystrophy [RCV003888545]|Retinitis pigmentosa [RCV000351834]|not provided [RCV000132601] |
Chr3:129532727 [GRCh38] Chr3:129251570 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_000539.3(RHO):c.979_982del (p.Pro327fs) |
deletion |
Retinitis pigmentosa [RCV000132602] |
Chr3:129533648..129533651 [GRCh38] Chr3:129252491..129252494 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.68C>A (p.Pro23His) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000763095]|RHO-related disorder [RCV004755731]|Retinal dystrophy [RCV001075876]|Retinitis pigmentosa 4 [RCV000013887]|not provided [RCV000490234] |
Chr3:129528801 [GRCh38] Chr3:129247644 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) |
single nucleotide variant |
Blurred vision [RCV000626702]|Microcephaly 17, primary, autosomal recessive [RCV003989284]|RHO-related disorder [RCV004755732]|Retinal dystrophy [RCV001075874]|Retinitis pigmentosa 4 [RCV000013888]|Retinitis pigmentosa [RCV000504743]|not provided [RCV000490027] |
Chr3:129533711 [GRCh38] Chr3:129252554 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.1039C>T (p.Pro347Ser) |
single nucleotide variant |
Retinal dystrophy [RCV003887861]|Retinitis pigmentosa 4 [RCV000013889] |
Chr3:129533710 [GRCh38] Chr3:129252553 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) |
single nucleotide variant |
RHO-related disorder [RCV004755733]|Retinal dystrophy [RCV001074373]|Retinitis pigmentosa 4 [RCV000013890]|not provided [RCV001384460] |
Chr3:129528906 [GRCh38] Chr3:129247749 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.50C>T (p.Thr17Met) |
single nucleotide variant |
Retinal dystrophy [RCV001075619]|Retinitis pigmentosa 4 [RCV000013892]|Retinitis pigmentosa [RCV000787682]|not provided [RCV001090660]|not specified [RCV001002098] |
Chr3:129528783 [GRCh38] Chr3:129247626 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.133T>C (p.Phe45Leu) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000013893]|not provided [RCV001851838] |
Chr3:129528866 [GRCh38] Chr3:129247709 [GRCh37] Chr3:3q22.1 |
pathogenic|uncertain significance |
NM_000539.3(RHO):c.260T>A (p.Val87Asp) |
single nucleotide variant |
Pigmentary retinal dystrophy [RCV001198366]|Retinitis pigmentosa 4 [RCV000013894] |
Chr3:129528993 [GRCh38] Chr3:129247836 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) |
single nucleotide variant |
Pigmentary retinal dystrophy [RCV001813740]|Retinal dystrophy [RCV004814892]|Retinitis pigmentosa 4 [RCV000013895]|Retinitis pigmentosa [RCV001003167]|not provided [RCV001213959] |
Chr3:129528999 [GRCh38] Chr3:129247842 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.316G>T (p.Gly106Trp) |
single nucleotide variant |
Retinal dystrophy [RCV001073422]|Retinitis pigmentosa 4 [RCV000013896]|not provided [RCV001857345] |
Chr3:129529049 [GRCh38] Chr3:129247892 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.568G>A (p.Asp190Asn) |
single nucleotide variant |
Retinal dystrophy [RCV003887862]|Retinitis pigmentosa 4 [RCV000013897]|not provided [RCV001056948] |
Chr3:129532288 [GRCh38] Chr3:129251131 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.404G>T (p.Arg135Leu) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000013898]|not provided [RCV000256085] |
Chr3:129530918 [GRCh38] Chr3:129249761 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) |
single nucleotide variant |
Retinal dystrophy [RCV004814893]|Retinitis pigmentosa 4 [RCV000013899]|Retinitis pigmentosa [RCV000787683]|not provided [RCV001229671] |
Chr3:129532253 [GRCh38] Chr3:129251096 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.569A>G (p.Asp190Gly) |
single nucleotide variant |
Retinal dystrophy [RCV003887863]|Retinitis pigmentosa 4 [RCV000013900]|not provided [RCV001386998] |
Chr3:129532289 [GRCh38] Chr3:129251132 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.632A>C (p.His211Pro) |
single nucleotide variant |
Retinal dystrophy [RCV001074697]|Retinitis pigmentosa 4 [RCV000013901] |
Chr3:129532352 [GRCh38] Chr3:129251195 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) |
single nucleotide variant |
RHO-related disorder [RCV004755734]|Retinal dystrophy [RCV001074272]|Retinitis pigmentosa 4 [RCV000013902]|Retinitis pigmentosa [RCV000132597]|Retinitis punctata albescens [RCV000013903]|not provided [RCV000413771] |
Chr3:129530917 [GRCh38] Chr3:129249760 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.1030C>T (p.Gln344Ter) |
single nucleotide variant |
Retinal dystrophy [RCV003887864]|Retinitis pigmentosa 4 [RCV000013904]|not provided [RCV000760321] |
Chr3:129533701 [GRCh38] Chr3:129252544 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.886A>G (p.Lys296Glu) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000013905]|not provided [RCV002513028] |
Chr3:129532722 [GRCh38] Chr3:129251565 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.1040C>G (p.Pro347Arg) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000013907]|Retinitis pigmentosa [RCV001003173]|not provided [RCV001382064] |
Chr3:129533711 [GRCh38] Chr3:129252554 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.544G>A (p.Gly182Ser) |
single nucleotide variant |
Retinal dystrophy [RCV001074816]|Retinitis pigmentosa 4 [RCV000013908]|not provided [RCV001857346] |
Chr3:129532264 [GRCh38] Chr3:129251107 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.800C>T (p.Pro267Leu) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000013909]|Retinitis pigmentosa [RCV001003172]|not provided [RCV001582479] |
Chr3:129532636 [GRCh38] Chr3:129251479 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.329G>A (p.Cys110Tyr) |
single nucleotide variant |
Retinal dystrophy [RCV001073635]|Retinitis pigmentosa 4 [RCV000013910]|not provided [RCV001234924] |
Chr3:129529062 [GRCh38] Chr3:129247905 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.745G>T (p.Glu249Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001074645]|Retinitis pigmentosa 4, autosomal recessive [RCV000013911]|not provided [RCV001007976] |
Chr3:129532581 [GRCh38] Chr3:129251424 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.158C>G (p.Pro53Arg) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000013912]|Retinitis pigmentosa [RCV000504903]|not provided [RCV002513029] |
Chr3:129528891 [GRCh38] Chr3:129247734 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) |
single nucleotide variant |
Retinal dystrophy [RCV001074389]|Retinitis pigmentosa 4 [RCV000013913]|Retinitis pigmentosa [RCV000787679]|not provided [RCV001207877] |
Chr3:129529049 [GRCh38] Chr3:129247892 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000013915]|Retinitis pigmentosa [RCV000504953]|not provided [RCV001386997] |
Chr3:129532288 [GRCh38] Chr3:129251131 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.44A>G (p.Asn15Ser) |
single nucleotide variant |
Retinal dystrophy [RCV004814894]|Retinitis pigmentosa 4 [RCV000013917]|Retinitis pigmentosa [RCV000132598]|not provided [RCV001203907] |
Chr3:129528777 [GRCh38] Chr3:129247620 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.620T>G (p.Met207Arg) |
single nucleotide variant |
Retinal dystrophy [RCV001075474]|Retinitis pigmentosa 4 [RCV000013918]|not provided [RCV004546412] |
Chr3:129532340 [GRCh38] Chr3:129251183 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.875C>A (p.Ala292Glu) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000013919] |
Chr3:129532711 [GRCh38] Chr3:129251554 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.269G>A (p.Gly90Asp) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000013920]|Pigmentary retinal dystrophy [RCV001195814]|Retinal dystrophy [RCV004814895]|not provided [RCV001268622] |
Chr3:129529002 [GRCh38] Chr3:129247845 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.448G>A (p.Glu150Lys) |
single nucleotide variant |
Autosomal recessive retinitis pigmentosa [RCV003105773]|Retinal dystrophy [RCV004794339]|Retinitis pigmentosa 4 [RCV001265186]|Retinitis pigmentosa 4, autosomal recessive [RCV000013921]|not provided [RCV001045970] |
Chr3:129530962 [GRCh38] Chr3:129249805 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.151G>C (p.Gly51Arg) |
single nucleotide variant |
RHO-related disorder [RCV003390680]|Retinitis pigmentosa 4 [RCV000013922]|not provided [RCV001237838] |
Chr3:129528884 [GRCh38] Chr3:129247727 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.341G>A (p.Gly114Asp) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000013923]|not provided [RCV001851839] |
Chr3:129529074 [GRCh38] Chr3:129247917 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.491C>A (p.Ala164Glu) |
single nucleotide variant |
Retinal dystrophy [RCV004814896]|Retinitis pigmentosa 4 [RCV000013924]|not provided [RCV001381859] |
Chr3:129531005 [GRCh38] Chr3:129249848 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.511C>T (p.Pro171Ser) |
single nucleotide variant |
Retinal dystrophy [RCV001075386]|Retinitis pigmentosa 4 [RCV000013925]|Retinitis pigmentosa [RCV001003169]|not provided [RCV001381861] |
Chr3:129531025 [GRCh38] Chr3:129249868 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del) |
microsatellite |
Retinitis pigmentosa 4 [RCV000013926]|not provided [RCV001386999] |
Chr3:129532625..129532627 [GRCh38] Chr3:129251468..129251470 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.1033G>C (p.Val345Leu) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000013927]|not provided [RCV001213632] |
Chr3:129533704 [GRCh38] Chr3:129252547 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.1040C>A (p.Pro347Gln) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000013928]|not provided [RCV001851840] |
Chr3:129533711 [GRCh38] Chr3:129252554 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.281C>T (p.Thr94Ile) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000013929] |
Chr3:129529014 [GRCh38] Chr3:129247857 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.67C>G (p.Pro23Ala) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000013930] |
Chr3:129528800 [GRCh38] Chr3:129247643 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.1033G>A (p.Val345Met) |
single nucleotide variant |
Retinal dystrophy [RCV004814897]|Retinitis pigmentosa 4 [RCV000013931]|not provided [RCV001045798] |
Chr3:129533704 [GRCh38] Chr3:129252547 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.217_219del (p.Asn73del) |
deletion |
Retinal dystrophy [RCV004814997]|Retinitis pigmentosa [RCV000076919] |
Chr3:129528949..129528951 [GRCh38] Chr3:129247792..129247794 [GRCh37] Chr3:3q22.1 |
likely pathogenic|not provided |
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) |
single nucleotide variant |
RHO-related disorder [RCV004755791]|Retinal dystrophy [RCV001074893]|Retinitis pigmentosa 4 [RCV000177081]|Retinitis pigmentosa [RCV000504731]|not provided [RCV000724301] |
Chr3:129532261 [GRCh38] Chr3:129251104 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.360C>T (p.Gly120=) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000396592]|Retinitis pigmentosa [RCV000293004]|not provided [RCV000880753]|not specified [RCV000173155] |
Chr3:129529093 [GRCh38] Chr3:129247936 [GRCh37] Chr3:3q22.1 |
benign|likely benign|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 3q21.3-23(chr3:126106779-140918089)x3 |
copy number gain |
See cases [RCV000142010] |
Chr3:126106779..140918089 [GRCh38] Chr3:125825622..140636931 [GRCh37] Chr3:127308312..142119621 [NCBI36] Chr3:3q21.3-23 |
uncertain significance |
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 |
copy number gain |
See cases [RCV000142340] |
Chr3:93800620..145695381 [GRCh38] Chr3:93519464..145413168 [GRCh37] Chr3:95002154..146895858 [NCBI36] Chr3:3q11.1-24 |
pathogenic |
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 |
copy number loss |
See cases [RCV000142787] |
Chr3:127607945..133566661 [GRCh38] Chr3:127326788..133285505 [GRCh37] Chr3:128809478..134768195 [NCBI36] Chr3:3q21.3-22.1 |
likely pathogenic |
NM_000539.3(RHO):c.586C>A (p.Pro196Thr) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000366657]|Retinal dystrophy [RCV001074281]|Retinitis pigmentosa [RCV000264905]|not provided [RCV001238676] |
Chr3:129532306 [GRCh38] Chr3:129251149 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.*1099G>A |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000317491]|Retinitis pigmentosa [RCV000262363] |
Chr3:129534817 [GRCh38] Chr3:129253660 [GRCh37] Chr3:3q22.1 |
benign |
NM_000539.3(RHO):c.*741T>C |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000324695]|Retinitis pigmentosa [RCV000278907] |
Chr3:129534459 [GRCh38] Chr3:129253302 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.152G>C (p.Gly51Ala) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000336890]|Retinitis pigmentosa [RCV000279557]|not provided [RCV000968011] |
Chr3:129528885 [GRCh38] Chr3:129247728 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_000539.3(RHO):c.*232A>G |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000280423]|Retinitis pigmentosa [RCV000374905]|not provided [RCV004716023] |
Chr3:129533950 [GRCh38] Chr3:129252793 [GRCh37] Chr3:3q22.1 |
benign |
NM_000539.3(RHO):c.*43C>A |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000266930]|Pigmentary retinal dystrophy [RCV001795400]|Retinitis pigmentosa 4 [RCV001795399]|Retinitis pigmentosa [RCV000361569]|not provided [RCV001530651]|not specified [RCV000253548] |
Chr3:129533761 [GRCh38] Chr3:129252604 [GRCh37] Chr3:3q22.1 |
benign |
NM_000539.3(RHO):c.*1255T>C |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000329122]|Retinitis pigmentosa [RCV000283487] |
Chr3:129534973 [GRCh38] Chr3:129253816 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.696+4C>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000262697]|Pigmentary retinal dystrophy [RCV001795404]|Retinitis pigmentosa 4 [RCV001795403]|Retinitis pigmentosa [RCV000373596]|not provided [RCV001512409]|not specified [RCV000249709] |
Chr3:129532420 [GRCh38] Chr3:129251263 [GRCh37] Chr3:3q22.1 |
benign |
NM_000539.3(RHO):c.-26A>G |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000377312]|Pigmentary retinal dystrophy [RCV001795402]|Retinitis pigmentosa 4 [RCV001795401]|Retinitis pigmentosa [RCV000285210]|not provided [RCV001675692]|not specified [RCV000244948] |
Chr3:129528708 [GRCh38] Chr3:129247551 [GRCh37] Chr3:3q22.1 |
benign |
NM_000539.3(RHO):c.624C>T (p.Phe208=) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000268586]|Retinitis pigmentosa [RCV000316747]|not provided [RCV001506266] |
Chr3:129532344 [GRCh38] Chr3:129251187 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_000539.3(RHO):c.*33C>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000301186]|Retinitis pigmentosa [RCV000337472]|not specified [RCV000250410] |
Chr3:129533751 [GRCh38] Chr3:129252594 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_000539.3(RHO):c.-51G>A |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000320268]|Retinitis pigmentosa [RCV000272221]|not provided [RCV001618609] |
Chr3:129528683 [GRCh38] Chr3:129247526 [GRCh37] Chr3:3q22.1 |
benign |
NM_000539.3(RHO):c.*140del |
deletion |
Congenital Stationary Night Blindness, Dominant [RCV000272590]|Retinitis Pigmentosa, Dominant/Recessive [RCV000327638] |
Chr3:129533843 [GRCh38] Chr3:129252686 [GRCh37] Chr3:3q22.1 |
benign |
NM_000539.3(RHO):c.*139_*140del |
deletion |
Congenital Stationary Night Blindness, Dominant [RCV000382175]|Retinitis Pigmentosa, Dominant/Recessive [RCV000268978]|not provided [RCV004694706] |
Chr3:129533843..129533844 [GRCh38] Chr3:129252686..129252687 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.*1599G>A |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000351990]|Retinitis pigmentosa [RCV000402693] |
Chr3:129535317 [GRCh38] Chr3:129254160 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance |
NM_000539.3(RHO):c.381C>G (p.Ser127=) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000315073]|Retinitis pigmentosa [RCV000362714]|not provided [RCV000910360]|not specified [RCV000592809] |
Chr3:129530895 [GRCh38] Chr3:129249738 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_000539.3(RHO):c.*205C>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000333623]|Retinitis pigmentosa [RCV000388156] |
Chr3:129533923 [GRCh38] Chr3:129252766 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_000539.3(RHO):c.*925T>C |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000396566]|Retinitis pigmentosa [RCV000315458]|not provided [RCV004716025] |
Chr3:129534643 [GRCh38] Chr3:129253486 [GRCh37] Chr3:3q22.1 |
benign |
NM_000539.3(RHO):c.*276C>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000395383]|Retinitis pigmentosa [RCV000335505] |
Chr3:129533994 [GRCh38] Chr3:129252837 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.*715C>T |
single nucleotide variant |
Congenital Stationary Night Blindness, Dominant [RCV000318933]|Retinitis Pigmentosa, Dominant/Recessive [RCV000373527] |
Chr3:129534433 [GRCh38] Chr3:129253276 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_000539.3(RHO):c.*912A>G |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000289806]|Retinitis pigmentosa [RCV000344809]|not provided [RCV004716024] |
Chr3:129534630 [GRCh38] Chr3:129253473 [GRCh37] Chr3:3q22.1 |
benign |
NM_000539.3(RHO):c.*1455T>C |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000287841]|Retinitis pigmentosa [RCV000382227] |
Chr3:129535173 [GRCh38] Chr3:129254016 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.*313C>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000341642]|Retinitis pigmentosa [RCV000305505] |
Chr3:129534031 [GRCh38] Chr3:129252874 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_000539.3(RHO):c.*1200T>C |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000377826]|Retinitis pigmentosa [RCV000323160] |
Chr3:129534918 [GRCh38] Chr3:129253761 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_000539.3(RHO):c.*488T>C |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000371021]|Retinitis pigmentosa [RCV000307072] |
Chr3:129534206 [GRCh38] Chr3:129253049 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_000539.3(RHO):c.48G>A (p.Ala16=) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000323919]|Retinitis pigmentosa [RCV000371594]|not provided [RCV003765982] |
Chr3:129528781 [GRCh38] Chr3:129247624 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance |
NM_000539.3(RHO):c.*1601C>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000293792]|Retinitis pigmentosa [RCV000348700] |
Chr3:129535319 [GRCh38] Chr3:129254162 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_000539.3(RHO):c.*467A>G |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000398278]|Retinitis pigmentosa [RCV000365192] |
Chr3:129534185 [GRCh38] Chr3:129253028 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_000539.3(RHO):c.480C>A (p.Thr160=) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000389975]|Retinitis pigmentosa [RCV000309251]|not provided [RCV000732353]|not specified [RCV001700071] |
Chr3:129530994 [GRCh38] Chr3:129249837 [GRCh37] Chr3:3q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000539.3(RHO):c.959C>A (p.Thr320Asn) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000295474]|RHO-related disorder [RCV003401364]|Retinal dystrophy [RCV004816589]|Retinitis pigmentosa [RCV000380819]|not provided [RCV001322065] |
Chr3:129533630 [GRCh38] Chr3:129252473 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance |
NM_000539.3(RHO):c.696+12G>A |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000329636]|Retinitis pigmentosa [RCV000386443]|not provided [RCV001456280] |
Chr3:129532428 [GRCh38] Chr3:129251271 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance |
NM_000539.3(RHO):c.*948T>C |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000402149]|Retinitis pigmentosa [RCV000370116] |
Chr3:129534666 [GRCh38] Chr3:129253509 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.361+12del |
deletion |
Congenital Stationary Night Blindness, Dominant [RCV000396600]|Retinitis Pigmentosa, Dominant/Recessive [RCV000350160]|not provided [RCV000968012] |
Chr3:129529104 [GRCh38] Chr3:129247947 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_000539.3(RHO):c.969C>T (p.Cys323=) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000350364]|Retinitis pigmentosa [RCV000397212]|not provided [RCV000894853] |
Chr3:129533640 [GRCh38] Chr3:129252483 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_000539.3(RHO):c.850G>A (p.Gly284Ser) |
single nucleotide variant |
not provided [RCV000373903] |
Chr3:129532686 [GRCh38] Chr3:129251529 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.404_405delinsTT (p.Arg135Leu) |
indel |
Retinal dystrophy [RCV001073685]|not provided [RCV000299725] |
Chr3:129530918..129530919 [GRCh38] Chr3:129249761..129249762 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.*645G>C |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000263479]|Retinitis pigmentosa [RCV000367414] |
Chr3:129534363 [GRCh38] Chr3:129253206 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.558G>A (p.Ser186=) |
single nucleotide variant |
not provided [RCV001520981]|not specified [RCV000321144] |
Chr3:129532278 [GRCh38] Chr3:129251121 [GRCh37] Chr3:3q22.1 |
benign |
NM_000539.3(RHO):c.*633G>A |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000276276]|Retinitis pigmentosa [RCV000331385] |
Chr3:129534351 [GRCh38] Chr3:129253194 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.362-10T>C |
single nucleotide variant |
not provided [RCV000395338] |
Chr3:129530866 [GRCh38] Chr3:129249709 [GRCh37] Chr3:3q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000539.3(RHO):c.*1144C>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000268312]|Retinitis pigmentosa [RCV000353740] |
Chr3:129534862 [GRCh38] Chr3:129253705 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.392T>C (p.Leu131Pro) |
single nucleotide variant |
Retinal dystrophy [RCV004817780]|Retinitis pigmentosa 4 [RCV001265185]|not provided [RCV000585361] |
Chr3:129530906 [GRCh38] Chr3:129249749 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.530+5T>C |
single nucleotide variant |
Retinal dystrophy [RCV004816706]|not provided [RCV000488344] |
Chr3:129531049 [GRCh38] Chr3:129249892 [GRCh37] Chr3:3q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000539.3(RHO):c.*115G>A |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000358201]|Retinitis pigmentosa [RCV000303379] |
Chr3:129533833 [GRCh38] Chr3:129252676 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.614T>G (p.Ile205Ser) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000303620]|Retinitis pigmentosa [RCV000360682] |
Chr3:129532334 [GRCh38] Chr3:129251177 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.*224C>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000293878]|Retinitis pigmentosa [RCV000348747] |
Chr3:129533942 [GRCh38] Chr3:129252785 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.*838A>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000379426]|Retinitis pigmentosa [RCV000284950] |
Chr3:129534556 [GRCh38] Chr3:129253399 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.*40C>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000297644]|Retinitis pigmentosa [RCV000397223] |
Chr3:129533758 [GRCh38] Chr3:129252601 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.*887G>C |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000340083]|Retinitis pigmentosa [RCV000403848] |
Chr3:129534605 [GRCh38] Chr3:129253448 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.*970C>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000357280]|Retinitis pigmentosa [RCV000311775] |
Chr3:129534688 [GRCh38] Chr3:129253531 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.*440C>G |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV000395389]|Retinitis pigmentosa [RCV000301879] |
Chr3:129534158 [GRCh38] Chr3:129253001 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) |
microsatellite |
Retinal dystrophy [RCV001074532]|Retinitis pigmentosa 4 [RCV001811090]|not provided [RCV000592804] |
Chr3:129532597..129532599 [GRCh38] Chr3:129251440..129251442 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000539.3(RHO):c.359del (p.Gly120fs) |
deletion |
not provided [RCV000414503] |
Chr3:129529090 [GRCh38] Chr3:129247933 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.263T>C (p.Leu88Pro) |
single nucleotide variant |
Retinal dystrophy [RCV003889887]|not provided [RCV000442591] |
Chr3:129528996 [GRCh38] Chr3:129247839 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.83A>G (p.Gln28Arg) |
single nucleotide variant |
Retinal dystrophy [RCV004817727]|Retinitis pigmentosa [RCV000505117]|not provided [RCV001296378] |
Chr3:129528816 [GRCh38] Chr3:129247659 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000987330]|Retinitis pigmentosa [RCV000505129]|not provided [RCV001381860] |
Chr3:129531023 [GRCh38] Chr3:129249866 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.405G>T (p.Arg135=) |
single nucleotide variant |
not specified [RCV000439200] |
Chr3:129530919 [GRCh38] Chr3:129249762 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_000539.3(RHO):c.946del (p.Cys316fs) |
deletion |
Autosomal dominant retinitis pigmentosa [RCV000509396]|not provided [RCV000481453] |
Chr3:129533617 [GRCh38] Chr3:129252460 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic|not provided |
NM_000539.3(RHO):c.491C>T (p.Ala164Val) |
single nucleotide variant |
Cone-rod dystrophy [RCV000787681]|Congenital stationary night blindness autosomal dominant 1 [RCV000477900]|Retinal dystrophy [RCV003889904]|Retinitis pigmentosa 4 [RCV001265187]|Retinitis pigmentosa [RCV000787680]|not provided [RCV001229601] |
Chr3:129531005 [GRCh38] Chr3:129249848 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.891C>G (p.Ser297Arg) |
single nucleotide variant |
Exudative retinopathy [RCV000626703]|Pigmentary retinal dystrophy [RCV001270159]|not provided [RCV002529794] |
Chr3:129532727 [GRCh38] Chr3:129251570 [GRCh37] Chr3:3q22.1 |
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_000539.3(RHO):c.505G>C (p.Ala169Pro) |
single nucleotide variant |
not provided [RCV003312586] |
Chr3:129531019 [GRCh38] Chr3:129249862 [GRCh37] Chr3:3q22.1 |
pathogenic |
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_000539.3(RHO):c.444C>T (p.Phe148=) |
single nucleotide variant |
not provided [RCV000658974] |
Chr3:129530958 [GRCh38] Chr3:129249801 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_000539.3(RHO):c.929A>G (p.Asn310Ser) |
single nucleotide variant |
not provided [RCV000658975] |
Chr3:129532765 [GRCh38] Chr3:129251608 [GRCh37] Chr3:3q22.1 |
uncertain significance |
GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1 |
copy number loss |
not provided [RCV000682304] |
Chr3:128660985..129811200 [GRCh37] Chr3:3q21.3-22.1 |
uncertain significance |
NM_000539.3(RHO):c.1037C>A (p.Ala346Asp) |
single nucleotide variant |
Retinal dystrophy [RCV004814071] |
Chr3:129533708 [GRCh38] Chr3:129252551 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.497C>T (p.Ala166Val) |
single nucleotide variant |
Retinitis pigmentosa [RCV001003168] |
Chr3:129531011 [GRCh38] Chr3:129249854 [GRCh37] Chr3:3q22.1 |
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 |
GRCh37/hg19 3q22.1(chr3:129239972-129350751)x3 |
copy number gain |
not provided [RCV000742789] |
Chr3:129239972..129350751 [GRCh37] Chr3:3q22.1 |
benign |
NM_000539.3(RHO):c.643C>G (p.Pro215Ala) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001591836]|not provided [RCV002571159] |
Chr3:129532363 [GRCh38] Chr3:129251206 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
Single allele |
deletion |
Deafness-lymphedema-leukemia syndrome [RCV001541925] |
Chr3:127966423..136853218 [GRCh37] Chr3:3q21.3-22.3 |
pathogenic |
Single allele |
deletion |
Deafness-lymphedema-leukemia syndrome [RCV001541926] |
Chr3:123000000..129700000 [GRCh37] Chr3:3q21.1-22.1 |
pathogenic |
NM_000539.3(RHO):c.600C>T (p.Asn200=) |
single nucleotide variant |
not provided [RCV000939758] |
Chr3:129532320 [GRCh38] Chr3:129251163 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_000539.3(RHO):c.755G>C (p.Arg252Pro) |
single nucleotide variant |
Cone dystrophy 3 [RCV001265203]|Retinal dystrophy [RCV004817979]|not provided [RCV000762387] |
Chr3:129532591 [GRCh38] Chr3:129251434 [GRCh37] Chr3:3q22.1 |
likely pathogenic|uncertain significance |
NM_000539.3(RHO):c.557C>G (p.Ser186Trp) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000987331] |
Chr3:129532277 [GRCh38] Chr3:129251120 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.502G>A (p.Ala168Thr) |
single nucleotide variant |
not provided [RCV001060164] |
Chr3:129531016 [GRCh38] Chr3:129249859 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.328T>G (p.Cys110Gly) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000786865] |
Chr3:129529061 [GRCh38] Chr3:129247904 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.625G>A (p.Val209Met) |
single nucleotide variant |
Retinal dystrophy [RCV004813654]|not provided [RCV001058715] |
Chr3:129532345 [GRCh38] Chr3:129251188 [GRCh37] Chr3:3q22.1 |
likely pathogenic|uncertain significance |
NM_000539.3(RHO):c.847T>C (p.Phe283Leu) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001148537]|Retinitis pigmentosa [RCV001148538] |
Chr3:129532683 [GRCh38] Chr3:129251526 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.203T>G (p.Leu68Arg) |
single nucleotide variant |
Retinitis pigmentosa [RCV000787677]|not provided [RCV001041417] |
Chr3:129528936 [GRCh38] Chr3:129247779 [GRCh37] Chr3:3q22.1 |
likely pathogenic|uncertain significance |
NM_000539.3(RHO):c.265G>C (p.Gly89Arg) |
single nucleotide variant |
Retinitis pigmentosa [RCV000787678] |
Chr3:129528998 [GRCh38] Chr3:129247841 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.*1454G>A |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001146090]|Retinitis pigmentosa [RCV001146091] |
Chr3:129535172 [GRCh38] Chr3:129254015 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.1020G>A (p.Thr340=) |
single nucleotide variant |
not provided [RCV000756598] |
Chr3:129533691 [GRCh38] Chr3:129252534 [GRCh37] Chr3:3q22.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_000539.3(RHO):c.16G>A (p.Gly6Ser) |
single nucleotide variant |
Retinal dystrophy [RCV001075304] |
Chr3:129528749 [GRCh38] Chr3:129247592 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.647T>G (p.Met216Arg) |
single nucleotide variant |
Retinal dystrophy [RCV001075318]|not provided [RCV001862606] |
Chr3:129532367 [GRCh38] Chr3:129251210 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.1034T>A (p.Val345Glu) |
single nucleotide variant |
Retinal dystrophy [RCV001075407]|not provided [RCV001862610] |
Chr3:129533705 [GRCh38] Chr3:129252548 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.72C>G (p.Phe24Leu) |
single nucleotide variant |
not provided [RCV001050353] |
Chr3:129528805 [GRCh38] Chr3:129247648 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.1028G>A (p.Ser343Asn) |
single nucleotide variant |
Retinal dystrophy [RCV001075811]|Retinitis pigmentosa 4 [RCV001265169]|not provided [RCV001090668] |
Chr3:129533699 [GRCh38] Chr3:129252542 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000539.3(RHO):c.532T>C (p.Tyr178His) |
single nucleotide variant |
Retinal dystrophy [RCV001075883]|Retinitis pigmentosa 4 [RCV001265191]|not provided [RCV001321723] |
Chr3:129532252 [GRCh38] Chr3:129251095 [GRCh37] Chr3:3q22.1 |
likely pathogenic|uncertain significance |
NM_000539.3(RHO):c.310G>A (p.Val104Ile) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV002482112]|RHO-related disorder [RCV004756165]|Retinal dystrophy [RCV003890221]|not provided [RCV001067390] |
Chr3:129529043 [GRCh38] Chr3:129247886 [GRCh37] Chr3:3q22.1 |
benign|likely benign|uncertain significance |
NM_000539.3(RHO):c.512C>T (p.Pro171Leu) |
single nucleotide variant |
Retinal dystrophy [RCV001073649]|Retinitis pigmentosa 4 [RCV001265189]|not provided [RCV001069818] |
Chr3:129531026 [GRCh38] Chr3:129249869 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.538C>G (p.Pro180Ala) |
single nucleotide variant |
Retinal dystrophy [RCV001073442]|not provided [RCV001207469] |
Chr3:129532258 [GRCh38] Chr3:129251101 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.72C>A (p.Phe24Leu) |
single nucleotide variant |
Retinal dystrophy [RCV001073462] |
Chr3:129528805 [GRCh38] Chr3:129247648 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.541G>C (p.Glu181Gln) |
single nucleotide variant |
Retinal dystrophy [RCV001073677] |
Chr3:129532261 [GRCh38] Chr3:129251104 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.406T>C (p.Tyr136His) |
single nucleotide variant |
Retinal dystrophy [RCV001073863]|not provided [RCV002554684] |
Chr3:129530920 [GRCh38] Chr3:129249763 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.808A>C (p.Ser270Arg) |
single nucleotide variant |
Retinal dystrophy [RCV001074085]|not provided [RCV001383089] |
Chr3:129532644 [GRCh38] Chr3:129251487 [GRCh37] Chr3:3q22.1 |
pathogenic|uncertain significance |
NM_000539.3(RHO):c.152G>T (p.Gly51Val) |
single nucleotide variant |
Retinal dystrophy [RCV001074351]|not provided [RCV002557910] |
Chr3:129528885 [GRCh38] Chr3:129247728 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.512C>A (p.Pro171Gln) |
single nucleotide variant |
Retinal dystrophy [RCV001074404]|Retinitis pigmentosa 4 [RCV001265188]|Retinitis pigmentosa [RCV001724238]|not provided [RCV001090663] |
Chr3:129531026 [GRCh38] Chr3:129249869 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.646del (p.Pro215_Met216insTer) |
deletion |
Retinitis pigmentosa [RCV001249888]|not provided [RCV001066498] |
Chr3:129532366 [GRCh38] Chr3:129251209 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.560G>T (p.Cys187Phe) |
single nucleotide variant |
Retinal dystrophy [RCV001074608]|Retinitis pigmentosa 4 [RCV001265197]|not provided [RCV001862569] |
Chr3:129532280 [GRCh38] Chr3:129251123 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.94G>C (p.Ala32Pro) |
single nucleotide variant |
Retinal dystrophy [RCV001075054] |
Chr3:129528827 [GRCh38] Chr3:129247670 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.1025C>T (p.Thr342Met) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001150104]|Retinitis pigmentosa [RCV000779383]|not provided [RCV001090667] |
Chr3:129533696 [GRCh38] Chr3:129252539 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance |
NM_000539.3(RHO):c.908C>G (p.Pro303Arg) |
single nucleotide variant |
Retinitis pigmentosa [RCV000787685]|not provided [RCV003718295] |
Chr3:129532744 [GRCh38] Chr3:129251587 [GRCh37] Chr3:3q22.1 |
likely pathogenic|uncertain significance |
NM_000539.3(RHO):c.540C>T (p.Pro180=) |
single nucleotide variant |
not provided [RCV000980944] |
Chr3:129532260 [GRCh38] Chr3:129251103 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_000539.3(RHO):c.53G>A (p.Gly18Asp) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000767356]|Retinitis pigmentosa [RCV001003166]|not provided [RCV001366656] |
Chr3:129528786 [GRCh38] Chr3:129247629 [GRCh37] Chr3:3q22.1 |
pathogenic|uncertain significance |
NM_000539.3(RHO):c.178T>C (p.Tyr60His) |
single nucleotide variant |
Retinal dystrophy [RCV004817984]|Retinitis pigmentosa 4 [RCV000767357]|not provided [RCV002533923] |
Chr3:129528911 [GRCh38] Chr3:129247754 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.185C>A (p.Thr62Asn) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000767358]|not provided [RCV001869053] |
Chr3:129528918 [GRCh38] Chr3:129247761 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.218A>G (p.Asn73Ser) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000767359]|Retinitis pigmentosa [RCV001199742] |
Chr3:129528951 [GRCh38] Chr3:129247794 [GRCh37] Chr3:3q22.1 |
pathogenic|uncertain significance |
NM_000539.3(RHO):c.302G>T (p.Gly101Val) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000767360]|not provided [RCV003558565] |
Chr3:129529035 [GRCh38] Chr3:129247878 [GRCh37] Chr3:3q22.1 |
pathogenic|uncertain significance |
NM_000539.3(RHO):c.439C>T (p.Arg147Cys) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000767361]|not provided [RCV001055425] |
Chr3:129530953 [GRCh38] Chr3:129249796 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.538C>A (p.Pro180Thr) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000767362] |
Chr3:129532258 [GRCh38] Chr3:129251101 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.755G>A (p.Arg252His) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000767363]|not provided [RCV001855963] |
Chr3:129532591 [GRCh38] Chr3:129251434 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.895G>A (p.Ala299Thr) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000767364]|not provided [RCV001347353] |
Chr3:129532731 [GRCh38] Chr3:129251574 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.913A>G (p.Ile305Val) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000767365] |
Chr3:129532749 [GRCh38] Chr3:129251592 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.1033G>T (p.Val345Leu) |
single nucleotide variant |
Retinitis pigmentosa [RCV000787676]|not provided [RCV001042727] |
Chr3:129533704 [GRCh38] Chr3:129252547 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.317G>T (p.Gly106Val) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000987329] |
Chr3:129529050 [GRCh38] Chr3:129247893 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.937-2A>T |
single nucleotide variant |
Retinal dystrophy [RCV004818094]|Retinitis pigmentosa 4 [RCV000987332]|not provided [RCV004726755] |
Chr3:129533606 [GRCh38] Chr3:129252449 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.934C>T (p.Gln312Ter) |
single nucleotide variant |
Retinitis pigmentosa [RCV000787686]|not provided [RCV001873211] |
Chr3:129532770 [GRCh38] Chr3:129251613 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.408C>A (p.Tyr136Ter) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000785958]|not provided [RCV001052650] |
Chr3:129530922 [GRCh38] Chr3:129249765 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.*1278G>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001146087]|Retinitis pigmentosa [RCV001144194] |
Chr3:129534996 [GRCh38] Chr3:129253839 [GRCh37] Chr3:3q22.1 |
benign |
NM_000539.3(RHO):c.47C>T (p.Ala16Val) |
single nucleotide variant |
not provided [RCV001055757] |
Chr3:129528780 [GRCh38] Chr3:129247623 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.399C>A (p.Ile133=) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001148424]|Congenital stationary night blindness autosomal dominant 1 [RCV001535704]|Retinitis pigmentosa [RCV001148423]|not provided [RCV001324702] |
Chr3:129530913 [GRCh38] Chr3:129249756 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance|not provided |
NM_000539.3(RHO):c.744G>A (p.Lys248=) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001145774]|Retinitis pigmentosa [RCV001145775]|not provided [RCV001311612] |
Chr3:129532580 [GRCh38] Chr3:129251423 [GRCh37] Chr3:3q22.1 |
benign|likely benign|uncertain significance |
NM_000539.3(RHO):c.*285G>A |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001148652]|Retinitis pigmentosa [RCV001145870] |
Chr3:129534003 [GRCh38] Chr3:129252846 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.630C>T (p.Val210=) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001143872]|Retinitis pigmentosa [RCV001150000]|not provided [RCV001423121] |
Chr3:129532350 [GRCh38] Chr3:129251193 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance |
NM_000539.3(RHO):c.*542G>A |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001150226]|Retinitis pigmentosa [RCV001150225] |
Chr3:129534260 [GRCh38] Chr3:129253103 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.361+10G>A |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001145667]|Retinal dystrophy [RCV004813800]|Retinitis pigmentosa [RCV001145666]|not provided [RCV002070759] |
Chr3:129529104 [GRCh38] Chr3:129247947 [GRCh37] Chr3:3q22.1 |
benign|likely benign|uncertain significance |
NM_000539.3(RHO):c.732G>A (p.Gln244=) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001145772]|Retinitis pigmentosa [RCV001145773]|not provided [RCV002070760] |
Chr3:129532568 [GRCh38] Chr3:129251411 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance |
NM_000539.3(RHO):c.754C>T (p.Arg252Cys) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001145776]|Retinitis pigmentosa 4 [RCV003389487]|Retinitis pigmentosa [RCV001145777] |
Chr3:129532590 [GRCh38] Chr3:129251433 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.810C>A (p.Ser270Arg) |
single nucleotide variant |
Retinal dystrophy [RCV003889982]|Retinitis pigmentosa 4 [RCV001265161]|Retinitis pigmentosa [RCV000787684]|not provided [RCV001387000] |
Chr3:129532646 [GRCh38] Chr3:129251489 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_000539.3(RHO):c.*406G>C |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001148654]|Retinitis pigmentosa [RCV001148653] |
Chr3:129534124 [GRCh38] Chr3:129252967 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.501C>G (p.Cys167Trp) |
single nucleotide variant |
not provided [RCV001090662] |
Chr3:129531015 [GRCh38] Chr3:129249858 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.*551G>A |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001150228]|Retinitis pigmentosa [RCV001150227] |
Chr3:129534269 [GRCh38] Chr3:129253112 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.704C>A (p.Ala235Asp) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001143875]|Retinitis pigmentosa [RCV001145771] |
Chr3:129532540 [GRCh38] Chr3:129251383 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.*815G>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001145980]|Retinitis pigmentosa [RCV001145979] |
Chr3:129534533 [GRCh38] Chr3:129253376 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.*1294A>G |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001146088]|Retinitis pigmentosa [RCV001146089] |
Chr3:129535012 [GRCh38] Chr3:129253855 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.527C>T (p.Ser176Phe) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265190]|not provided [RCV001061969] |
Chr3:129531041 [GRCh38] Chr3:129249884 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_000539.3(RHO):c.-24G>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001145547]|Retinitis pigmentosa [RCV001149880] |
Chr3:129528710 [GRCh38] Chr3:129247553 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.62G>A (p.Arg21His) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001145549]|Retinitis pigmentosa [RCV001145548]|not provided [RCV001858954] |
Chr3:129528795 [GRCh38] Chr3:129247638 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance |
NM_000539.3(RHO):c.87C>T (p.Tyr29=) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001145551]|Retinitis pigmentosa [RCV001145550] |
Chr3:129528820 [GRCh38] Chr3:129247663 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.45T>G (p.Asn15Lys) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000987328]|not provided [RCV001858663] |
Chr3:129528778 [GRCh38] Chr3:129247621 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.1034T>C (p.Val345Ala) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV000987333]|not provided [RCV001378537] |
Chr3:129533705 [GRCh38] Chr3:129252548 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.677T>C (p.Leu226Pro) |
single nucleotide variant |
not provided [RCV001205891] |
Chr3:129532397 [GRCh38] Chr3:129251240 [GRCh37] Chr3:3q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000539.3(RHO):c.428T>A (p.Met143Lys) |
single nucleotide variant |
not provided [RCV001237449] |
Chr3:129530942 [GRCh38] Chr3:129249785 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.1019C>T (p.Thr340Met) |
single nucleotide variant |
Retinal dystrophy [RCV003890352]|not provided [RCV001206828] |
Chr3:129533690 [GRCh38] Chr3:129252533 [GRCh37] Chr3:3q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000539.3(RHO):c.1010del (p.Val337fs) |
deletion |
not provided [RCV001241573] |
Chr3:129533681 [GRCh38] Chr3:129252524 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.517G>A (p.Ala173Thr) |
single nucleotide variant |
Retinal dystrophy [RCV004813966]|not provided [RCV001238364] |
Chr3:129531031 [GRCh38] Chr3:129249874 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance |
NM_000539.3(RHO):c.173C>T (p.Thr58Met) |
single nucleotide variant |
Occult macular dystrophy [RCV001265174]|not provided [RCV001242415] |
Chr3:129528906 [GRCh38] Chr3:129247749 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.*26C>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001150105]|Retinitis pigmentosa [RCV001150106] |
Chr3:129533744 [GRCh38] Chr3:129252587 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.892G>A (p.Ala298Thr) |
single nucleotide variant |
Pigmentary retinal dystrophy [RCV001199359]|not provided [RCV002559273] |
Chr3:129532728 [GRCh38] Chr3:129251571 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.316G>C (p.Gly106Arg) |
single nucleotide variant |
not provided [RCV001229349] |
Chr3:129529049 [GRCh38] Chr3:129247892 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.948C>T (p.Cys316=) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001148540]|Retinitis pigmentosa [RCV001148539] |
Chr3:129533619 [GRCh38] Chr3:129252462 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance |
NM_000539.3(RHO):c.644C>T (p.Pro215Leu) |
single nucleotide variant |
Retinal dystrophy [RCV004813728]|not provided [RCV001090665] |
Chr3:129532364 [GRCh38] Chr3:129251207 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.*679A>G |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001145978]|Retinitis pigmentosa [RCV001144084] |
Chr3:129534397 [GRCh38] Chr3:129253240 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.706C>T (p.Gln236Ter) |
single nucleotide variant |
Retinal dystrophy [RCV004814318] |
Chr3:129532542 [GRCh38] Chr3:129251385 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.219_220delinsATACATCCTGCTCAACC (p.Asn73_Tyr74delinsLysTyrIleLeuLeuAsnHis) |
indel |
Retinal dystrophy [RCV004814232] |
Chr3:129528952..129528953 [GRCh38] Chr3:129247795..129247796 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.527C>G (p.Ser176Cys) |
single nucleotide variant |
Retinal dystrophy [RCV004814247] |
Chr3:129531041 [GRCh38] Chr3:129249884 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.968G>T (p.Cys323Phe) |
single nucleotide variant |
Retinal dystrophy [RCV004814262] |
Chr3:129533639 [GRCh38] Chr3:129252482 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.26T>G (p.Phe9Cys) |
single nucleotide variant |
Retinal dystrophy [RCV004814135] |
Chr3:129528759 [GRCh38] Chr3:129247602 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.84G>T (p.Gln28His) |
single nucleotide variant |
not provided [RCV001699940] |
Chr3:129528817 [GRCh38] Chr3:129247660 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.937-6T>A |
single nucleotide variant |
not provided [RCV001700632] |
Chr3:129533602 [GRCh38] Chr3:129252445 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance |
NC_000003.11:g.(?_126707437)_(130720194_?)dup |
duplication |
Deafness-lymphedema-leukemia syndrome [RCV003113323]|not provided [RCV003107782] |
Chr3:126707437..130720194 [GRCh37] Chr3:3q21.3-22.1 |
uncertain significance|no classifications from unflagged records |
NM_000539.3(RHO):c.633C>T (p.His211=) |
single nucleotide variant |
not provided [RCV000921032] |
Chr3:129532353 [GRCh38] Chr3:129251196 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_000539.3(RHO):c.399C>T (p.Ile133=) |
single nucleotide variant |
not provided [RCV000916810] |
Chr3:129530913 [GRCh38] Chr3:129249756 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_000539.3(RHO):c.962T>A (p.Ile321Asn) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001150102]|Retinitis pigmentosa [RCV001150103]|not provided [RCV001068626] |
Chr3:129533633 [GRCh38] Chr3:129252476 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.205C>T (p.Arg69Cys) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001145664]|Retinitis pigmentosa [RCV001145665] |
Chr3:129528938 [GRCh38] Chr3:129247781 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.850G>T (p.Gly284Cys) |
single nucleotide variant |
not provided [RCV001208087] |
Chr3:129532686 [GRCh38] Chr3:129251529 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.512C>G (p.Pro171Arg) |
single nucleotide variant |
Retinitis pigmentosa [RCV003388936]|not provided [RCV001208283] |
Chr3:129531026 [GRCh38] Chr3:129249869 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_000539.3(RHO):c.578C>T (p.Thr193Met) |
single nucleotide variant |
Retinal dystrophy [RCV003887964]|not provided [RCV001245275] |
Chr3:129532298 [GRCh38] Chr3:129251141 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.440G>A (p.Arg147His) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001148426]|Retinitis pigmentosa [RCV001148425]|not provided [RCV002559425] |
Chr3:129530954 [GRCh38] Chr3:129249797 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.235del (p.Asn78_Leu79insTer) |
deletion |
not provided [RCV001231371] |
Chr3:129528967 [GRCh38] Chr3:129247810 [GRCh37] Chr3:3q22.1 |
pathogenic |
NC_000003.12:g.(?_129170453)_(129551340_?)dup |
duplication |
not provided [RCV001031235] |
Chr3:128889296..129270183 [GRCh37] Chr3:3q21.3-22.1 |
uncertain significance |
NM_000539.3(RHO):c.631C>T (p.His211Tyr) |
single nucleotide variant |
not provided [RCV001227380] |
Chr3:129532351 [GRCh38] Chr3:129251194 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.86A>G (p.Tyr29Cys) |
single nucleotide variant |
not provided [RCV001227379] |
Chr3:129528819 [GRCh38] Chr3:129247662 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.799C>A (p.Pro267Thr) |
single nucleotide variant |
not provided [RCV001058214] |
Chr3:129532635 [GRCh38] Chr3:129251478 [GRCh37] Chr3:3q22.1 |
pathogenic|uncertain significance |
NM_000539.3(RHO):c.190C>T (p.Gln64Ter) |
single nucleotide variant |
not provided [RCV001241342] |
Chr3:129528923 [GRCh38] Chr3:129247766 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.697-11G>A |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001143873]|Retinitis pigmentosa [RCV001143874]|not provided [RCV002070735] |
Chr3:129532522 [GRCh38] Chr3:129251365 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance |
NM_000539.3(RHO):c.937-10T>A |
single nucleotide variant |
not provided [RCV001244010] |
Chr3:129533598 [GRCh38] Chr3:129252441 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.519C>T (p.Ala173=) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001148427]|Retinitis pigmentosa [RCV001149999]|not provided [RCV000913183] |
Chr3:129531033 [GRCh38] Chr3:129249876 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_000539.3(RHO):c.376T>G (p.Trp126Gly) |
single nucleotide variant |
Retinal dystrophy [RCV004814300] |
Chr3:129530890 [GRCh38] Chr3:129249733 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.503C>T (p.Ala168Val) |
single nucleotide variant |
Retinal dystrophy [RCV004814106] |
Chr3:129531017 [GRCh38] Chr3:129249860 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.569A>T (p.Asp190Val) |
single nucleotide variant |
Retinal dystrophy [RCV004814511] |
Chr3:129532289 [GRCh38] Chr3:129251132 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.696+9C>T |
single nucleotide variant |
RHO-related disorder [RCV003923162]|not provided [RCV000911506] |
Chr3:129532425 [GRCh38] Chr3:129251268 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_000539.3(RHO):c.804C>T (p.Tyr268=) |
single nucleotide variant |
not provided [RCV000890892] |
Chr3:129532640 [GRCh38] Chr3:129251483 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_000539.3(RHO):c.1034T>G (p.Val345Gly) |
single nucleotide variant |
Retinal dystrophy [RCV004814098] |
Chr3:129533705 [GRCh38] Chr3:129252548 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.130A>G (p.Met44Val) |
single nucleotide variant |
Retinal dystrophy [RCV004814218] |
Chr3:129528863 [GRCh38] Chr3:129247706 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.495G>T (p.Leu165=) |
single nucleotide variant |
not provided [RCV000933720] |
Chr3:129531009 [GRCh38] Chr3:129249852 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_000539.3(RHO):c.182T>A (p.Val61Asp) |
single nucleotide variant |
Retinal dystrophy [RCV004814310] |
Chr3:129528915 [GRCh38] Chr3:129247758 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.937-2A>C |
single nucleotide variant |
not provided [RCV001723379] |
Chr3:129533606 [GRCh38] Chr3:129252449 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.937-23G>A |
single nucleotide variant |
not provided [RCV001717760] |
Chr3:129533585 [GRCh38] Chr3:129252428 [GRCh37] Chr3:3q22.1 |
benign |
NM_000539.3(RHO):c.888G>C (p.Lys296Asn) |
single nucleotide variant |
Retinal dystrophy [RCV004813923]|Retinitis pigmentosa 4 [RCV001265163]|not provided [RCV001228505] |
Chr3:129532724 [GRCh38] Chr3:129251567 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.*1179T>C |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001144192]|Retinitis pigmentosa [RCV001144193] |
Chr3:129534897 [GRCh38] Chr3:129253740 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.44A>T (p.Asn15Ile) |
single nucleotide variant |
not provided [RCV001093177] |
Chr3:129528777 [GRCh38] Chr3:129247620 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.979_980del (p.Pro327fs) |
deletion |
not provided [RCV000999545] |
Chr3:129533649..129533650 [GRCh38] Chr3:129252492..129252493 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.941G>A (p.Arg314Gln) |
single nucleotide variant |
Retinal dystrophy [RCV003888313]|not provided [RCV001700877] |
Chr3:129533612 [GRCh38] Chr3:129252455 [GRCh37] Chr3:3q22.1 |
benign|uncertain significance |
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) |
single nucleotide variant |
Retinal dystrophy [RCV001073614]|Retinitis pigmentosa 4 [RCV001265168]|not provided [RCV001213688]|not specified [RCV001002602] |
Chr3:129533692 [GRCh38] Chr3:129252535 [GRCh37] Chr3:3q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000539.3(RHO):c.568G>C (p.Asp190His) |
single nucleotide variant |
Retinal dystrophy [RCV004815598]|Retinitis pigmentosa [RCV001724812]|not provided [RCV002539737] |
Chr3:129532288 [GRCh38] Chr3:129251131 [GRCh37] Chr3:3q22.1 |
likely pathogenic|uncertain significance |
NM_000539.3(RHO):c.936+1G>T |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265165]|Retinitis pigmentosa [RCV001724222]|not provided [RCV001060212] |
Chr3:129532773 [GRCh38] Chr3:129251616 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.647T>A (p.Met216Lys) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001542566]|Retinal dystrophy [RCV001073436]|Retinitis pigmentosa 4 [RCV001265200]|not provided [RCV001090666] |
Chr3:129532367 [GRCh38] Chr3:129251210 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000539.3(RHO):c.325G>A (p.Gly109Arg) |
single nucleotide variant |
Retinal dystrophy [RCV001073984]|Retinitis pigmentosa 4 [RCV001265179]|not provided [RCV001862531] |
Chr3:129529058 [GRCh38] Chr3:129247901 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.1045T>C (p.Ter349Gln) |
single nucleotide variant |
Retinal dystrophy [RCV001073991]|not provided [RCV001862814] |
Chr3:129533716 [GRCh38] Chr3:129252559 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.925A>T (p.Met309Leu) |
single nucleotide variant |
Retinal dystrophy [RCV001074284]|not provided [RCV001341016] |
Chr3:129532761 [GRCh38] Chr3:129251604 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.279C>G (p.Ser93Arg) |
single nucleotide variant |
Retinal dystrophy [RCV001074739] |
Chr3:129529012 [GRCh38] Chr3:129247855 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.710A>T (p.Gln237Leu) |
single nucleotide variant |
not provided [RCV001214959] |
Chr3:129532546 [GRCh38] Chr3:129251389 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.1030C>G (p.Gln344Glu) |
single nucleotide variant |
Retinal dystrophy [RCV001075013]|not provided [RCV002554735] |
Chr3:129533701 [GRCh38] Chr3:129252544 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.551A>G (p.Gln184Arg) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001535689]|Pigmentary retinal dystrophy [RCV002249673]|Retinal dystrophy [RCV001075493]|Retinitis pigmentosa 4 [RCV003447316]|not provided [RCV001337215] |
Chr3:129532271 [GRCh38] Chr3:129251114 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_000539.3(RHO):c.*573C>T |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001144081]|Retinitis pigmentosa [RCV001150229] |
Chr3:129534291 [GRCh38] Chr3:129253134 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.696+1G>C |
single nucleotide variant |
not provided [RCV001050989] |
Chr3:129532417 [GRCh38] Chr3:129251260 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) |
single nucleotide variant |
RHO-related disorder [RCV004756151]|Retinitis pigmentosa 4 [RCV001265198]|not provided [RCV001041691]|not specified [RCV001001281] |
Chr3:129532283 [GRCh38] Chr3:129251126 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.209C>T (p.Thr70Met) |
single nucleotide variant |
Retinitis pigmentosa [RCV003483756]|not provided [RCV001035632] |
Chr3:129528942 [GRCh38] Chr3:129247785 [GRCh37] Chr3:3q22.1 |
uncertain significance|not provided |
NM_000539.3(RHO):c.570C>G (p.Asp190Glu) |
single nucleotide variant |
not provided [RCV001235206] |
Chr3:129532290 [GRCh38] Chr3:129251133 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_000539.3(RHO):c.452A>G (p.Asn151Ser) |
single nucleotide variant |
not provided [RCV001203997] |
Chr3:129530966 [GRCh38] Chr3:129249809 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.*670A>C |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001144083]|Retinitis pigmentosa [RCV001144082] |
Chr3:129534388 [GRCh38] Chr3:129253231 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.571T>A (p.Tyr191Asn) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001027721] |
Chr3:129532291 [GRCh38] Chr3:129251134 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.1032G>C (p.Gln344His) |
single nucleotide variant |
Retinal dystrophy [RCV001073659]|Retinitis pigmentosa [RCV001199741]|not provided [RCV001724208] |
Chr3:129533703 [GRCh38] Chr3:129252546 [GRCh37] Chr3:3q22.1 |
pathogenic|uncertain significance |
NM_000539.3(RHO):c.58G>A (p.Val20Ile) |
single nucleotide variant |
Retinal dystrophy [RCV001073770]|not provided [RCV001862809] |
Chr3:129528791 [GRCh38] Chr3:129247634 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.341G>T (p.Gly114Val) |
single nucleotide variant |
Retinal dystrophy [RCV001073876]|not provided [RCV003558653] |
Chr3:129529074 [GRCh38] Chr3:129247917 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.548_638dup (p.Ile214fs) |
duplication |
Retinitis pigmentosa [RCV001003170] |
Chr3:129532266..129532267 [GRCh38] Chr3:129251109..129251110 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.229C>T (p.Leu77Phe) |
single nucleotide variant |
not provided [RCV001204435] |
Chr3:129528962 [GRCh38] Chr3:129247805 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.31G>A (p.Val11Met) |
single nucleotide variant |
Retinal dystrophy [RCV001074222]|not provided [RCV001862544] |
Chr3:129528764 [GRCh38] Chr3:129247607 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.538C>T (p.Pro180Ser) |
single nucleotide variant |
not provided [RCV001040314] |
Chr3:129532258 [GRCh38] Chr3:129251101 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265196]|Retinitis pigmentosa [RCV001003171]|not provided [RCV001229176] |
Chr3:129532280 [GRCh38] Chr3:129251123 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.172_173delinsTA (p.Thr58Ter) |
indel |
Retinal dystrophy [RCV001075164]|not provided [RCV003718311] |
Chr3:129528905..129528906 [GRCh38] Chr3:129247748..129247749 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.328T>C (p.Cys110Arg) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001542565]|Retinal dystrophy [RCV001075603]|Retinitis pigmentosa 4 [RCV001265180]|Retinitis pigmentosa [RCV003324555]|not provided [RCV001389459] |
Chr3:129529061 [GRCh38] Chr3:129247904 [GRCh37] Chr3:3q22.1 |
pathogenic|likely pathogenic |
NM_000539.3(RHO):c.137T>G (p.Leu46Arg) |
single nucleotide variant |
not provided [RCV001090661] |
Chr3:129528870 [GRCh38] Chr3:129247713 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.632A>G (p.His211Arg) |
single nucleotide variant |
not provided [RCV001090664] |
Chr3:129532352 [GRCh38] Chr3:129251195 [GRCh37] Chr3:3q22.1 |
pathogenic |
NM_000539.3(RHO):c.969C>A (p.Cys323Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001074778]|not provided [RCV001035033] |
Chr3:129533640 [GRCh38] Chr3:129252483 [GRCh37] Chr3:3q22.1 |
likely pathogenic|uncertain significance |
NM_000539.3(RHO):c.*959A>G |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001253990]|Retinitis pigmentosa [RCV001253989] |
Chr3:129534677 [GRCh38] Chr3:129253520 [GRCh37] Chr3:3q22.1 |
benign|uncertain significance |
NM_000539.3(RHO):c.778_789del (p.Ala260_Ile263del) |
deletion |
Retinitis pigmentosa 4 [RCV001265159] |
Chr3:129532611..129532622 [GRCh38] Chr3:129251454..129251465 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_000539.3(RHO):c.929del (p.Asn310fs) |
deletion |
Retinitis pigmentosa 4 [RCV001265164] |
Chr3:129532764 [GRCh38] Chr3:129251607 [GRCh37] Chr3:3q22.1 |
likely pathogenic |
NM_000539.3(RHO):c.953_955del (p.Leu318_Thr319delinsPro) |
deletion |
Retinitis pigmentosa 4 [RCV001265166]|not provided [RCV001296379] |
Chr3:129533624..129533626 [GRCh38] C |