| 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]|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 |
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|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]|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]|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 |
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]|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 |
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 |
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 |
Retinitis pigmentosa 4 [RCV000013917]|Retinitis pigmentosa [RCV000132598]|not provided [RCV001203907] |
Chr3:129528777 [GRCh38]
Chr3:129247620 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.620T>G (p.Met207Arg) |
single nucleotide variant |
Retinal dystrophy [RCV001075474]|Retinitis pigmentosa 4 [RCV000013918] |
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]|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]|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 condition [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 |
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 |
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 |
Retinitis pigmentosa [RCV000076919] |
Chr3:129528949..129528951 [GRCh38]
Chr3:129247792..129247794 [GRCh37]
Chr3:3q22.1 |
not provided |
| NM_000539.3(RHO):c.541G>A (p.Glu181Lys) |
single nucleotide variant |
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] |
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] |
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] |
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] |
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 condition [RCV003401364]|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 |
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 |
not provided [RCV000488344] |
Chr3:129531049 [GRCh38]
Chr3:129249892 [GRCh37]
Chr3:3q22.1 |
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|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 |
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.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]|not provided [RCV000762387] |
Chr3:129532591 [GRCh38]
Chr3:129251434 [GRCh37]
Chr3:3q22.1 |
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 |
not provided [RCV001058715] |
Chr3:129532345 [GRCh38]
Chr3:129251188 [GRCh37]
Chr3:3q22.1 |
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]|Retinal dystrophy [RCV003890221]|not provided [RCV001067390] |
Chr3:129529043 [GRCh38]
Chr3:129247886 [GRCh37]
Chr3:3q22.1 |
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 |
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 |
Retinitis pigmentosa 4 [RCV000987332] |
Chr3:129533606 [GRCh38]
Chr3:129252449 [GRCh37]
Chr3:3q22.1 |
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]|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 |
| 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|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 |
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 |
not provided [RCV001090665] |
Chr3:129532364 [GRCh38]
Chr3:129251207 [GRCh37]
Chr3:3q22.1 |
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.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.696+9C>T |
single nucleotide variant |
RHO-related condition [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.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.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 |
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|uncertain significance |
| NM_000539.3(RHO):c.568G>C (p.Asp190His) |
single nucleotide variant |
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 |
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]
Chr3:129252467..129252469 [GRCh37]
Chr3:3q22.1 |
likely pathogenic|uncertain significance |
| NM_000539.3(RHO):c.977del (p.Asn326fs) |
deletion |
Retinitis pigmentosa 4 [RCV001265167] |
Chr3:129533647 [GRCh38]
Chr3:129252490 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.559T>C (p.Cys187Arg) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265195] |
Chr3:129532279 [GRCh38]
Chr3:129251122 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.553T>C (p.Cys185Arg) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265194]|not provided [RCV001377164] |
Chr3:129532273 [GRCh38]
Chr3:129251116 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_000539.3(RHO):c.545_546delinsAA (p.Gly182Glu) |
indel |
Retinitis pigmentosa 4 [RCV001265193] |
Chr3:129532265..129532266 [GRCh38]
Chr3:129251108..129251109 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.766_777del (p.Ile256_Ile259del) |
deletion |
Retinitis pigmentosa 4 [RCV001265205]|Retinitis pigmentosa [RCV003324560] |
Chr3:129532592..129532603 [GRCh38]
Chr3:129251435..129251446 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.361G>A (p.Gly121Ser) |
single nucleotide variant |
Severe early-childhood-onset retinal dystrophy [RCV001265182]|not provided [RCV001323778] |
Chr3:129529094 [GRCh38]
Chr3:129247937 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.211C>T (p.Pro71Ser) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265177] |
Chr3:129528944 [GRCh38]
Chr3:129247787 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del) |
deletion |
Retinitis pigmentosa 4 [RCV001265176] |
Chr3:129528935..129528946 [GRCh38]
Chr3:129247778..129247789 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.571T>G (p.Tyr191Asp) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265199]|not provided [RCV001370917] |
Chr3:129532291 [GRCh38]
Chr3:129251134 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.730C>T (p.Gln244Ter) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265202] |
Chr3:129532566 [GRCh38]
Chr3:129251409 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.353_361+3del |
deletion |
Retinitis pigmentosa 4 [RCV001262653] |
Chr3:129529085..129529096 [GRCh38]
Chr3:129247928..129247939 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.67C>T (p.Pro23Ser) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001262654] |
Chr3:129528800 [GRCh38]
Chr3:129247643 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.937-1G>C |
single nucleotide variant |
not provided [RCV001268820] |
Chr3:129533607 [GRCh38]
Chr3:129252450 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.539C>T (p.Pro180Leu) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265192]|not provided [RCV001880088] |
Chr3:129532259 [GRCh38]
Chr3:129251102 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_000539.3(RHO):c.673C>T (p.Gln225Ter) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265201] |
Chr3:129532393 [GRCh38]
Chr3:129251236 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.806C>A (p.Ala269Asp) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001265160] |
Chr3:129532642 [GRCh38]
Chr3:129251485 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.886A>C (p.Lys296Gln) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265162] |
Chr3:129532722 [GRCh38]
Chr3:129251565 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.50C>A (p.Thr17Lys) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265170]|not provided [RCV001305331] |
Chr3:129528783 [GRCh38]
Chr3:129247626 [GRCh37]
Chr3:3q22.1 |
likely pathogenic|uncertain significance |
| NM_000539.3(RHO):c.66C>A (p.Ser22Arg) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265171] |
Chr3:129528799 [GRCh38]
Chr3:129247642 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.362G>T (p.Gly121Val) |
single nucleotide variant |
Congenital stationary night blindness autosomal dominant 1 [RCV001265184]|Retinitis pigmentosa 4 [RCV001265183] |
Chr3:129530876 [GRCh38]
Chr3:129249719 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.1040del (p.Pro347fs) |
deletion |
Retinitis pigmentosa 4 [RCV001265181] |
Chr3:129533708 [GRCh38]
Chr3:129252551 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.284T>C (p.Leu95Pro) |
single nucleotide variant |
Retinal degeneration [RCV002287489]|Retinitis pigmentosa 4 [RCV001265178]|not provided [RCV001345144] |
Chr3:129529017 [GRCh38]
Chr3:129247860 [GRCh37]
Chr3:3q22.1 |
likely pathogenic|uncertain significance |
| NM_000539.3(RHO):c.165C>A (p.Asn55Lys) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265173]|not provided [RCV001880087] |
Chr3:129528898 [GRCh38]
Chr3:129247741 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_000539.3(RHO):c.116T>G (p.Met39Arg) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV001265172]|not provided [RCV001384459] |
Chr3:129528849 [GRCh38]
Chr3:129247692 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_000539.3(RHO):c.524G>T (p.Trp175Leu) |
single nucleotide variant |
not provided [RCV001298866] |
Chr3:129531038 [GRCh38]
Chr3:129249881 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.826T>G (p.Phe276Val) |
single nucleotide variant |
not provided [RCV001350936] |
Chr3:129532662 [GRCh38]
Chr3:129251505 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.515T>C (p.Leu172Pro) |
single nucleotide variant |
not provided [RCV001342474] |
Chr3:129531029 [GRCh38]
Chr3:129249872 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.505G>A (p.Ala169Thr) |
single nucleotide variant |
not provided [RCV001314702] |
Chr3:129531019 [GRCh38]
Chr3:129249862 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.35C>G (p.Pro12Arg) |
single nucleotide variant |
not provided [RCV001339625] |
Chr3:129528768 [GRCh38]
Chr3:129247611 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.458C>A (p.Ala153Asp) |
single nucleotide variant |
not provided [RCV001304240] |
Chr3:129530972 [GRCh38]
Chr3:129249815 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.696+7G>T |
single nucleotide variant |
not provided [RCV001361451] |
Chr3:129532423 [GRCh38]
Chr3:129251266 [GRCh37]
Chr3:3q22.1 |
likely benign|uncertain significance |
| NM_000539.3(RHO):c.360C>A (p.Gly120=) |
single nucleotide variant |
not provided [RCV001297432] |
Chr3:129529093 [GRCh38]
Chr3:129247936 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.919A>T (p.Ile307Phe) |
single nucleotide variant |
not provided [RCV001355933] |
Chr3:129532755 [GRCh38]
Chr3:129251598 [GRCh37]
Chr3:3q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000539.3(RHO):c.14A>G (p.Glu5Gly) |
single nucleotide variant |
not provided [RCV001316648] |
Chr3:129528747 [GRCh38]
Chr3:129247590 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NC_000003.12:g.129525787C>T |
single nucleotide variant |
not provided [RCV001358518] |
Chr3:129525787 [GRCh38]
Chr3:129244630 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.404G>A (p.Arg135Gln) |
single nucleotide variant |
Retinal dystrophy [RCV003887995]|not provided [RCV001298387] |
Chr3:129530918 [GRCh38]
Chr3:129249761 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.315C>T (p.Phe105=) |
single nucleotide variant |
not provided [RCV001397513] |
Chr3:129529048 [GRCh38]
Chr3:129247891 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.180C>G (p.Tyr60Ter) |
single nucleotide variant |
not provided [RCV001382599] |
Chr3:129528913 [GRCh38]
Chr3:129247756 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.27C>A (p.Phe9Leu) |
single nucleotide variant |
not provided [RCV001322759] |
Chr3:129528760 [GRCh38]
Chr3:129247603 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.219C>A (p.Asn73Lys) |
single nucleotide variant |
not provided [RCV001301428] |
Chr3:129528952 [GRCh38]
Chr3:129247795 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.187G>A (p.Val63Ile) |
single nucleotide variant |
not provided [RCV001364807] |
Chr3:129528920 [GRCh38]
Chr3:129247763 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.696+5G>C |
single nucleotide variant |
not provided [RCV001346007] |
Chr3:129532421 [GRCh38]
Chr3:129251264 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.194A>T (p.His65Leu) |
single nucleotide variant |
not provided [RCV001365265] |
Chr3:129528927 [GRCh38]
Chr3:129247770 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.545G>A (p.Gly182Asp) |
single nucleotide variant |
not provided [RCV001342371] |
Chr3:129532265 [GRCh38]
Chr3:129251108 [GRCh37]
Chr3:3q22.1 |
pathogenic|uncertain significance |
| NM_000539.3(RHO):c.242_244del (p.Val81del) |
deletion |
not provided [RCV001306920] |
Chr3:129528974..129528976 [GRCh38]
Chr3:129247817..129247819 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NC_000003.11:g.(?_129234311)_(129252561_?)dup |
duplication |
not provided [RCV001345086] |
Chr3:129234311..129252561 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.613A>G (p.Ile205Val) |
single nucleotide variant |
not provided [RCV001347378] |
Chr3:129532333 [GRCh38]
Chr3:129251176 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.696+5G>A |
single nucleotide variant |
not provided [RCV001340000] |
Chr3:129532421 [GRCh38]
Chr3:129251264 [GRCh37]
Chr3:3q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000539.3(RHO):c.769_777dup (p.Met257_Ile259dup) |
duplication |
not provided [RCV001307066] |
Chr3:129532599..129532600 [GRCh38]
Chr3:129251442..129251443 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.274A>G (p.Thr92Ala) |
single nucleotide variant |
not provided [RCV001344322] |
Chr3:129529007 [GRCh38]
Chr3:129247850 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.823A>C (p.Ile275Leu) |
single nucleotide variant |
not provided [RCV001366174] |
Chr3:129532659 [GRCh38]
Chr3:129251502 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.101C>T (p.Pro34Leu) |
single nucleotide variant |
not provided [RCV001360203] |
Chr3:129528834 [GRCh38]
Chr3:129247677 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.587C>T (p.Pro196Leu) |
single nucleotide variant |
not provided [RCV001305088] |
Chr3:129532307 [GRCh38]
Chr3:129251150 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.539C>G (p.Pro180Arg) |
single nucleotide variant |
not provided [RCV001369404] |
Chr3:129532259 [GRCh38]
Chr3:129251102 [GRCh37]
Chr3:3q22.1 |
likely pathogenic|uncertain significance |
| NM_000539.3(RHO):c.73G>A (p.Glu25Lys) |
single nucleotide variant |
not provided [RCV001365752] |
Chr3:129528806 [GRCh38]
Chr3:129247649 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.697-19C>T |
single nucleotide variant |
not provided [RCV001506954] |
Chr3:129532514 [GRCh38]
Chr3:129251357 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.321C>A (p.Pro107=) |
single nucleotide variant |
not provided [RCV001435258] |
Chr3:129529054 [GRCh38]
Chr3:129247897 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.545G>T (p.Gly182Val) |
single nucleotide variant |
not provided [RCV001384605] |
Chr3:129532265 [GRCh38]
Chr3:129251108 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.426C>T (p.Pro142=) |
single nucleotide variant |
not provided [RCV001491294] |
Chr3:129530940 [GRCh38]
Chr3:129249783 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.696+9C>G |
single nucleotide variant |
not provided [RCV001480233] |
Chr3:129532425 [GRCh38]
Chr3:129251268 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.469G>A (p.Val157Ile) |
single nucleotide variant |
not provided [RCV001470261] |
Chr3:129530983 [GRCh38]
Chr3:129249826 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.876G>C (p.Ala292=) |
single nucleotide variant |
not provided [RCV001500799] |
Chr3:129532712 [GRCh38]
Chr3:129251555 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.380C>T (p.Ser127Phe) |
single nucleotide variant |
Retinal dystrophy [RCV003888080]|not provided [RCV001379698] |
Chr3:129530894 [GRCh38]
Chr3:129249737 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000539.3(RHO):c.174G>A (p.Thr58=) |
single nucleotide variant |
not provided [RCV001474841] |
Chr3:129528907 [GRCh38]
Chr3:129247750 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.237A>C (p.Leu79=) |
single nucleotide variant |
not provided [RCV001409739] |
Chr3:129528970 [GRCh38]
Chr3:129247813 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.688G>A (p.Val230Ile) |
single nucleotide variant |
not provided [RCV001410842] |
Chr3:129532408 [GRCh38]
Chr3:129251251 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.936+17G>T |
single nucleotide variant |
not provided [RCV001402688] |
Chr3:129532789 [GRCh38]
Chr3:129251632 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.408C>T (p.Tyr136=) |
single nucleotide variant |
not provided [RCV001393809] |
Chr3:129530922 [GRCh38]
Chr3:129249765 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.68C>T (p.Pro23Leu) |
single nucleotide variant |
Retinal dystrophy [RCV003888084]|not provided [RCV001384458] |
Chr3:129528801 [GRCh38]
Chr3:129247644 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_000539.3(RHO):c.51G>C (p.Thr17=) |
single nucleotide variant |
not provided [RCV001448606] |
Chr3:129528784 [GRCh38]
Chr3:129247627 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.530+20G>A |
single nucleotide variant |
not provided [RCV001495160] |
Chr3:129531064 [GRCh38]
Chr3:129249907 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.196A>T (p.Lys66Ter) |
single nucleotide variant |
Retinal dystrophy [RCV003888310]|not provided [RCV001682663] |
Chr3:129528929 [GRCh38]
Chr3:129247772 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.144C>T (p.Ile48=) |
single nucleotide variant |
not provided [RCV001465580] |
Chr3:129528877 [GRCh38]
Chr3:129247720 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.243G>A (p.Val81=) |
single nucleotide variant |
not provided [RCV001465238] |
Chr3:129528976 [GRCh38]
Chr3:129247819 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.930C>T (p.Asn310=) |
single nucleotide variant |
not provided [RCV001496984] |
Chr3:129532766 [GRCh38]
Chr3:129251609 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.576C>T (p.Tyr192=) |
single nucleotide variant |
not provided [RCV001487373] |
Chr3:129532296 [GRCh38]
Chr3:129251139 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.696+10G>A |
single nucleotide variant |
not provided [RCV001477542] |
Chr3:129532426 [GRCh38]
Chr3:129251269 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.492G>A (p.Ala164=) |
single nucleotide variant |
not provided [RCV001504779] |
Chr3:129531006 [GRCh38]
Chr3:129249849 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.855C>T (p.Pro285=) |
single nucleotide variant |
not provided [RCV001488767] |
Chr3:129532691 [GRCh38]
Chr3:129251534 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.937-2A>G |
single nucleotide variant |
Retinal dystrophy [RCV003888307]|Retinitis pigmentosa 4 [RCV001591837]|not provided [RCV003565484] |
Chr3:129533606 [GRCh38]
Chr3:129252449 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_000539.3(RHO):c.696+10G>C |
single nucleotide variant |
not provided [RCV001442374] |
Chr3:129532426 [GRCh38]
Chr3:129251269 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.447G>A (p.Gly149=) |
single nucleotide variant |
not provided [RCV001406645] |
Chr3:129530961 [GRCh38]
Chr3:129249804 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.1039C>A (p.Pro347Thr) |
single nucleotide variant |
not provided [RCV001382063] |
Chr3:129533710 [GRCh38]
Chr3:129252553 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.876G>A (p.Ala292=) |
single nucleotide variant |
not provided [RCV001415572] |
Chr3:129532712 [GRCh38]
Chr3:129251555 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.937-9G>C |
single nucleotide variant |
not provided [RCV001456233] |
Chr3:129533599 [GRCh38]
Chr3:129252442 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.516C>T (p.Leu172=) |
single nucleotide variant |
not provided [RCV001438797] |
Chr3:129531030 [GRCh38]
Chr3:129249873 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.45T>A (p.Asn15Lys) |
single nucleotide variant |
not provided [RCV001379130] |
Chr3:129528778 [GRCh38]
Chr3:129247621 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.180C>T (p.Tyr60=) |
single nucleotide variant |
not provided [RCV001727269] |
Chr3:129528913 [GRCh38]
Chr3:129247756 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.981A>T (p.Pro327=) |
single nucleotide variant |
not provided [RCV001730356] |
Chr3:129533652 [GRCh38]
Chr3:129252495 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.851G>A (p.Gly284Asp) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV002251232] |
Chr3:129532687 [GRCh38]
Chr3:129251530 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.697-3C>A |
single nucleotide variant |
not provided [RCV001768997] |
Chr3:129532530 [GRCh38]
Chr3:129251373 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.176T>G (p.Leu59Arg) |
single nucleotide variant |
not provided [RCV001754606] |
Chr3:129528909 [GRCh38]
Chr3:129247752 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.557C>T (p.Ser186Leu) |
single nucleotide variant |
not provided [RCV001907883] |
Chr3:129532277 [GRCh38]
Chr3:129251120 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.608T>C (p.Phe203Ser) |
single nucleotide variant |
not provided [RCV001915488] |
Chr3:129532328 [GRCh38]
Chr3:129251171 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.540del (p.Glu181fs) |
deletion |
not provided [RCV001863545] |
Chr3:129532257 [GRCh38]
Chr3:129251100 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.481T>C (p.Trp161Arg) |
single nucleotide variant |
not provided [RCV001988811] |
Chr3:129530995 [GRCh38]
Chr3:129249838 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.304T>A (p.Tyr102Asn) |
single nucleotide variant |
not provided [RCV002044759] |
Chr3:129529037 [GRCh38]
Chr3:129247880 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.165C>G (p.Asn55Lys) |
single nucleotide variant |
not provided [RCV001863589] |
Chr3:129528898 [GRCh38]
Chr3:129247741 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.409G>A (p.Val137Met) |
single nucleotide variant |
not provided [RCV002025656] |
Chr3:129530923 [GRCh38]
Chr3:129249766 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.781T>C (p.Phe261Leu) |
single nucleotide variant |
not provided [RCV002023662] |
Chr3:129532617 [GRCh38]
Chr3:129251460 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.176T>A (p.Leu59His) |
single nucleotide variant |
not provided [RCV001969487] |
Chr3:129528909 [GRCh38]
Chr3:129247752 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_000539.3(RHO):c.697-18G>A |
single nucleotide variant |
not provided [RCV001986703] |
Chr3:129532515 [GRCh38]
Chr3:129251358 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.671G>A (p.Gly224Glu) |
single nucleotide variant |
not provided [RCV002044825] |
Chr3:129532391 [GRCh38]
Chr3:129251234 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.238G>T (p.Ala80Ser) |
single nucleotide variant |
not provided [RCV002044861] |
Chr3:129528971 [GRCh38]
Chr3:129247814 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.1036G>A (p.Ala346Thr) |
single nucleotide variant |
not provided [RCV001893038] |
Chr3:129533707 [GRCh38]
Chr3:129252550 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.1045T>G (p.Ter349Glu) |
single nucleotide variant |
not provided [RCV001893980] |
Chr3:129533716 [GRCh38]
Chr3:129252559 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.593T>C (p.Val198Ala) |
single nucleotide variant |
not provided [RCV001968957] |
Chr3:129532313 [GRCh38]
Chr3:129251156 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.404G>C (p.Arg135Pro) |
single nucleotide variant |
not provided [RCV001946576] |
Chr3:129530918 [GRCh38]
Chr3:129249761 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.242T>C (p.Val81Ala) |
single nucleotide variant |
not provided [RCV001945808] |
Chr3:129528975 [GRCh38]
Chr3:129247818 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.703G>A (p.Ala235Thr) |
single nucleotide variant |
not provided [RCV001871509] |
Chr3:129532539 [GRCh38]
Chr3:129251382 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.335T>C (p.Leu112Ser) |
single nucleotide variant |
not provided [RCV002041605] |
Chr3:129529068 [GRCh38]
Chr3:129247911 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.194A>G (p.His65Arg) |
single nucleotide variant |
not provided [RCV001895561] |
Chr3:129528927 [GRCh38]
Chr3:129247770 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.357G>A (p.Leu119=) |
single nucleotide variant |
not provided [RCV002024029] |
Chr3:129529090 [GRCh38]
Chr3:129247933 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.337G>A (p.Glu113Lys) |
single nucleotide variant |
not provided [RCV002007136] |
Chr3:129529070 [GRCh38]
Chr3:129247913 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.403C>G (p.Arg135Gly) |
single nucleotide variant |
not provided [RCV001946834] |
Chr3:129530917 [GRCh38]
Chr3:129249760 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.306C>G (p.Tyr102Ter) |
single nucleotide variant |
not provided [RCV002007212] |
Chr3:129529039 [GRCh38]
Chr3:129247882 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.82C>A (p.Gln28Lys) |
single nucleotide variant |
not provided [RCV001928742] |
Chr3:129528815 [GRCh38]
Chr3:129247658 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.974A>C (p.Lys325Thr) |
single nucleotide variant |
not provided [RCV001890976] |
Chr3:129533645 [GRCh38]
Chr3:129252488 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.660T>G (p.Phe220Leu) |
single nucleotide variant |
not provided [RCV002042054] |
Chr3:129532380 [GRCh38]
Chr3:129251223 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.9C>T (p.Gly3=) |
single nucleotide variant |
not provided [RCV001967284] |
Chr3:129528742 [GRCh38]
Chr3:129247585 [GRCh37]
Chr3:3q22.1 |
likely benign|uncertain significance |
| NM_000539.3(RHO):c.175C>T (p.Leu59Phe) |
single nucleotide variant |
not provided [RCV002003246] |
Chr3:129528908 [GRCh38]
Chr3:129247751 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.131T>C (p.Met44Thr) |
single nucleotide variant |
not provided [RCV002026974] |
Chr3:129528864 [GRCh38]
Chr3:129247707 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.1009G>A (p.Val337Met) |
single nucleotide variant |
not provided [RCV001935104] |
Chr3:129533680 [GRCh38]
Chr3:129252523 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.560G>C (p.Cys187Ser) |
single nucleotide variant |
Retinal dystrophy [RCV003888995]|not provided [RCV002020021] |
Chr3:129532280 [GRCh38]
Chr3:129251123 [GRCh37]
Chr3:3q22.1 |
likely pathogenic|uncertain significance |
| NM_000539.3(RHO):c.436T>A (p.Phe146Ile) |
single nucleotide variant |
not provided [RCV002031524] |
Chr3:129530950 [GRCh38]
Chr3:129249793 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.36del (p.Phe13fs) |
deletion |
Retinal dystrophy [RCV003888941]|not provided [RCV001951057] |
Chr3:129528767 [GRCh38]
Chr3:129247610 [GRCh37]
Chr3:3q22.1 |
pathogenic|uncertain significance |
| NM_000539.3(RHO):c.913A>C (p.Ile305Leu) |
single nucleotide variant |
not provided [RCV001933092] |
Chr3:129532749 [GRCh38]
Chr3:129251592 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.464T>C (p.Met155Thr) |
single nucleotide variant |
not provided [RCV001885526] |
Chr3:129530978 [GRCh38]
Chr3:129249821 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.106C>T (p.Gln36Ter) |
single nucleotide variant |
not provided [RCV002000157] |
Chr3:129528839 [GRCh38]
Chr3:129247682 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.991G>A (p.Asp331Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002555428]|not provided [RCV001907005] |
Chr3:129533662 [GRCh38]
Chr3:129252505 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NC_000003.11:g.(?_129150344)_(129252561_?)dup |
duplication |
Cranioectodermal dysplasia 1 [RCV001961718]|not provided [RCV003107934] |
Chr3:129150344..129252561 [GRCh37]
Chr3:3q21.3-22.1 |
uncertain significance|no classifications from unflagged records |
| NM_000539.3(RHO):c.517G>C (p.Ala173Pro) |
single nucleotide variant |
not provided [RCV001887967] |
Chr3:129531031 [GRCh38]
Chr3:129249874 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.124G>A (p.Ala42Thr) |
single nucleotide variant |
Retinal dystrophy [RCV003888375]|not provided [RCV001897809] |
Chr3:129528857 [GRCh38]
Chr3:129247700 [GRCh37]
Chr3:3q22.1 |
benign|uncertain significance |
| NM_000539.3(RHO):c.649A>T (p.Ile217Phe) |
single nucleotide variant |
not provided [RCV001953012] |
Chr3:129532369 [GRCh38]
Chr3:129251212 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.232A>T (p.Asn78Tyr) |
single nucleotide variant |
not provided [RCV002010446] |
Chr3:129528965 [GRCh38]
Chr3:129247808 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.1043C>T (p.Ala348Val) |
single nucleotide variant |
not provided [RCV001900599] |
Chr3:129533714 [GRCh38]
Chr3:129252557 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.518C>A (p.Ala173Asp) |
single nucleotide variant |
not provided [RCV001877797] |
Chr3:129531032 [GRCh38]
Chr3:129249875 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.361+5G>A |
single nucleotide variant |
not provided [RCV001915669] |
Chr3:129529099 [GRCh38]
Chr3:129247942 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.760_762dup (p.Val254dup) |
duplication |
not provided [RCV001919758] |
Chr3:129532595..129532596 [GRCh38]
Chr3:129251438..129251439 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.977A>G (p.Asn326Ser) |
single nucleotide variant |
not provided [RCV001956838] |
Chr3:129533648 [GRCh38]
Chr3:129252491 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.833A>C (p.His278Pro) |
single nucleotide variant |
not provided [RCV002050321] |
Chr3:129532669 [GRCh38]
Chr3:129251512 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NC_000003.11:g.(?_120365818)_(133465047_?)del |
deletion |
Alkaptonuria [RCV002035459] |
Chr3:120365818..133465047 [GRCh37]
Chr3:3q13.33-22.1 |
pathogenic |
| NM_000539.3(RHO):c.145G>A (p.Val49Met) |
single nucleotide variant |
not provided [RCV001932362] |
Chr3:129528878 [GRCh38]
Chr3:129247721 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.783C>A (p.Phe261Leu) |
single nucleotide variant |
not provided [RCV001878723] |
Chr3:129532619 [GRCh38]
Chr3:129251462 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.764T>G (p.Ile255Ser) |
single nucleotide variant |
not provided [RCV002010548] |
Chr3:129532600 [GRCh38]
Chr3:129251443 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.445G>A (p.Gly149Arg) |
single nucleotide variant |
not provided [RCV001991176] |
Chr3:129530959 [GRCh38]
Chr3:129249802 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.670G>A (p.Gly224Arg) |
single nucleotide variant |
not provided [RCV001901975] |
Chr3:129532390 [GRCh38]
Chr3:129251233 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.749T>C (p.Val250Ala) |
single nucleotide variant |
not provided [RCV001977879] |
Chr3:129532585 [GRCh38]
Chr3:129251428 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.467G>T (p.Gly156Val) |
single nucleotide variant |
not provided [RCV001880761] |
Chr3:129530981 [GRCh38]
Chr3:129249824 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.908C>T (p.Pro303Leu) |
single nucleotide variant |
not provided [RCV002035161] |
Chr3:129532744 [GRCh38]
Chr3:129251587 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.1015A>T (p.Lys339Ter) |
single nucleotide variant |
not provided [RCV002028805] |
Chr3:129533686 [GRCh38]
Chr3:129252529 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.419G>C (p.Cys140Ser) |
single nucleotide variant |
not provided [RCV001980392] |
Chr3:129530933 [GRCh38]
Chr3:129249776 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.530+1G>C |
single nucleotide variant |
not provided [RCV002026479] |
Chr3:129531045 [GRCh38]
Chr3:129249888 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.779_780del (p.Ala260fs) |
deletion |
not provided [RCV001955308] |
Chr3:129532615..129532616 [GRCh38]
Chr3:129251458..129251459 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.458C>T (p.Ala153Val) |
single nucleotide variant |
not provided [RCV002018102] |
Chr3:129530972 [GRCh38]
Chr3:129249815 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.251T>C (p.Leu84Pro) |
single nucleotide variant |
not provided [RCV001977201] |
Chr3:129528984 [GRCh38]
Chr3:129247827 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.25T>G (p.Phe9Val) |
single nucleotide variant |
not provided [RCV001897851] |
Chr3:129528758 [GRCh38]
Chr3:129247601 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.721G>A (p.Ala241Thr) |
single nucleotide variant |
not provided [RCV001959249] |
Chr3:129532557 [GRCh38]
Chr3:129251400 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.875C>T (p.Ala292Val) |
single nucleotide variant |
not provided [RCV002035588] |
Chr3:129532711 [GRCh38]
Chr3:129251554 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.514C>T (p.Leu172Phe) |
single nucleotide variant |
not provided [RCV001933154] |
Chr3:129531028 [GRCh38]
Chr3:129249871 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.103T>C (p.Trp35Arg) |
single nucleotide variant |
not provided [RCV001979172] |
Chr3:129528836 [GRCh38]
Chr3:129247679 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.317G>C (p.Gly106Ala) |
single nucleotide variant |
not provided [RCV002048281] |
Chr3:129529050 [GRCh38]
Chr3:129247893 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.53G>T (p.Gly18Val) |
single nucleotide variant |
not provided [RCV001903209] |
Chr3:129528786 [GRCh38]
Chr3:129247629 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.8G>A (p.Gly3Asp) |
single nucleotide variant |
not provided [RCV001994148] |
Chr3:129528741 [GRCh38]
Chr3:129247584 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.299A>G (p.His100Arg) |
single nucleotide variant |
not provided [RCV002015691] |
Chr3:129529032 [GRCh38]
Chr3:129247875 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.30C>T (p.Tyr10=) |
single nucleotide variant |
not provided [RCV002187745] |
Chr3:129528763 [GRCh38]
Chr3:129247606 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_000539.3(RHO):c.990C>T (p.Asp330=) |
single nucleotide variant |
not provided [RCV002144816] |
Chr3:129533661 [GRCh38]
Chr3:129252504 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.240C>G (p.Ala80=) |
single nucleotide variant |
RHO-related condition [RCV003958575]|not provided [RCV002205557] |
Chr3:129528973 [GRCh38]
Chr3:129247816 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.362-11C>T |
single nucleotide variant |
not provided [RCV002145611] |
Chr3:129530865 [GRCh38]
Chr3:129249708 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.486C>T (p.Val162=) |
single nucleotide variant |
not provided [RCV002072401] |
Chr3:129531000 [GRCh38]
Chr3:129249843 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.579G>A (p.Thr193=) |
single nucleotide variant |
not provided [RCV002089478] |
Chr3:129532299 [GRCh38]
Chr3:129251142 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.288C>T (p.Tyr96=) |
single nucleotide variant |
not provided [RCV002084954] |
Chr3:129529021 [GRCh38]
Chr3:129247864 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.504C>T (p.Ala168=) |
single nucleotide variant |
not provided [RCV002133804] |
Chr3:129531018 [GRCh38]
Chr3:129249861 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.309C>T (p.Phe103=) |
single nucleotide variant |
not provided [RCV002174343] |
Chr3:129529042 [GRCh38]
Chr3:129247885 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.240C>T (p.Ala80=) |
single nucleotide variant |
not provided [RCV002216320] |
Chr3:129528973 [GRCh38]
Chr3:129247816 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.696+15dup |
duplication |
not provided [RCV002127469] |
Chr3:129532425..129532426 [GRCh38]
Chr3:129251268..129251269 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_000539.3(RHO):c.777C>T (p.Ile259=) |
single nucleotide variant |
not provided [RCV002171188] |
Chr3:129532613 [GRCh38]
Chr3:129251456 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.937-10T>C |
single nucleotide variant |
not provided [RCV002196510] |
Chr3:129533598 [GRCh38]
Chr3:129252441 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.696+19G>A |
single nucleotide variant |
not provided [RCV002173014] |
Chr3:129532435 [GRCh38]
Chr3:129251278 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.267T>C (p.Gly89=) |
single nucleotide variant |
not provided [RCV002094310] |
Chr3:129529000 [GRCh38]
Chr3:129247843 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.186C>T (p.Thr62=) |
single nucleotide variant |
Retinal dystrophy [RCV003889014]|not provided [RCV002096748] |
Chr3:129528919 [GRCh38]
Chr3:129247762 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.696+20C>T |
single nucleotide variant |
not provided [RCV002192252] |
Chr3:129532436 [GRCh38]
Chr3:129251279 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.123C>T (p.Ala41=) |
single nucleotide variant |
not provided [RCV002102175] |
Chr3:129528856 [GRCh38]
Chr3:129247699 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.285C>G (p.Leu95=) |
single nucleotide variant |
not provided [RCV002218222] |
Chr3:129529018 [GRCh38]
Chr3:129247861 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.1023G>A (p.Glu341=) |
single nucleotide variant |
not provided [RCV002163302] |
Chr3:129533694 [GRCh38]
Chr3:129252537 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.1032G>A (p.Gln344=) |
single nucleotide variant |
not provided [RCV002204592] |
Chr3:129533703 [GRCh38]
Chr3:129252546 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.933G>A (p.Lys311=) |
single nucleotide variant |
not provided [RCV002118675] |
Chr3:129532769 [GRCh38]
Chr3:129251612 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.1041G>A (p.Pro347=) |
single nucleotide variant |
not provided [RCV002081296] |
Chr3:129533712 [GRCh38]
Chr3:129252555 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.530+14G>A |
single nucleotide variant |
not provided [RCV002156019] |
Chr3:129531058 [GRCh38]
Chr3:129249901 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.558G>T (p.Ser186=) |
single nucleotide variant |
not provided [RCV002175781] |
Chr3:129532278 [GRCh38]
Chr3:129251121 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.642C>A (p.Ile214=) |
single nucleotide variant |
not provided [RCV002139153] |
Chr3:129532362 [GRCh38]
Chr3:129251205 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.937-9G>A |
single nucleotide variant |
not provided [RCV002160099] |
Chr3:129533599 [GRCh38]
Chr3:129252442 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.998C>T (p.Ala333Val) |
single nucleotide variant |
not provided [RCV002123455] |
Chr3:129533669 [GRCh38]
Chr3:129252512 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.362-17T>G |
single nucleotide variant |
not provided [RCV002183671] |
Chr3:129530859 [GRCh38]
Chr3:129249702 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.895G>T (p.Ala299Ser) |
single nucleotide variant |
not provided [RCV002118152] |
Chr3:129532731 [GRCh38]
Chr3:129251574 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_000539.3(RHO):c.279C>T (p.Ser93=) |
single nucleotide variant |
not provided [RCV002161238] |
Chr3:129529012 [GRCh38]
Chr3:129247855 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.443T>C (p.Phe148Ser) |
single nucleotide variant |
not provided [RCV003156650] |
Chr3:129530957 [GRCh38]
Chr3:129249800 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.194_205del (p.His65_Leu68del) |
deletion |
Congenital stationary night blindness autosomal dominant 1 [RCV002286615] |
Chr3:129528925..129528936 [GRCh38]
Chr3:129247768..129247779 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| 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 |
| NM_000539.3(RHO):c.520G>C (p.Gly174Arg) |
single nucleotide variant |
not provided [RCV002306058] |
Chr3:129531034 [GRCh38]
Chr3:129249877 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.518C>T (p.Ala173Val) |
single nucleotide variant |
not provided [RCV002299176] |
Chr3:129531032 [GRCh38]
Chr3:129249875 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.115A>G (p.Met39Val) |
single nucleotide variant |
not provided [RCV003014929] |
Chr3:129528848 [GRCh38]
Chr3:129247691 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.58G>C (p.Val20Leu) |
single nucleotide variant |
not provided [RCV002865998] |
Chr3:129528791 [GRCh38]
Chr3:129247634 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.130A>C (p.Met44Leu) |
single nucleotide variant |
not provided [RCV002756596] |
Chr3:129528863 [GRCh38]
Chr3:129247706 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.62G>C (p.Arg21Pro) |
single nucleotide variant |
not provided [RCV002843392] |
Chr3:129528795 [GRCh38]
Chr3:129247638 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.714G>T (p.Gln238His) |
single nucleotide variant |
not provided [RCV002947443] |
Chr3:129532550 [GRCh38]
Chr3:129251393 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.1012_*11del (p.Ser338fs) |
deletion |
not provided [RCV003032864] |
Chr3:129533682..129533728 [GRCh38]
Chr3:129252525..129252571 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.223A>G (p.Ile75Val) |
single nucleotide variant |
not provided [RCV002815736] |
Chr3:129528956 [GRCh38]
Chr3:129247799 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.752C>T (p.Thr251Ile) |
single nucleotide variant |
not provided [RCV002731385] |
Chr3:129532588 [GRCh38]
Chr3:129251431 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.27C>T (p.Phe9=) |
single nucleotide variant |
not provided [RCV003017057] |
Chr3:129528760 [GRCh38]
Chr3:129247603 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.687C>T (p.Thr229=) |
single nucleotide variant |
RHO-related condition [RCV003973689]|not provided [RCV002615406] |
Chr3:129532407 [GRCh38]
Chr3:129251250 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.778G>A (p.Ala260Thr) |
single nucleotide variant |
not provided [RCV002571901] |
Chr3:129532614 [GRCh38]
Chr3:129251457 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.888G>A (p.Lys296=) |
single nucleotide variant |
not provided [RCV002593306] |
Chr3:129532724 [GRCh38]
Chr3:129251567 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.831C>A (p.Thr277=) |
single nucleotide variant |
not provided [RCV003100533] |
Chr3:129532667 [GRCh38]
Chr3:129251510 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.1026G>C (p.Thr342=) |
single nucleotide variant |
not provided [RCV002659716] |
Chr3:129533697 [GRCh38]
Chr3:129252540 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.961A>G (p.Ile321Val) |
single nucleotide variant |
not provided [RCV003039048] |
Chr3:129533632 [GRCh38]
Chr3:129252475 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.43A>G (p.Asn15Asp) |
single nucleotide variant |
not provided [RCV003035788] |
Chr3:129528776 [GRCh38]
Chr3:129247619 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.530+17G>A |
single nucleotide variant |
not provided [RCV002886444] |
Chr3:129531061 [GRCh38]
Chr3:129249904 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.392T>G (p.Leu131Arg) |
single nucleotide variant |
not provided [RCV002889167] |
Chr3:129530906 [GRCh38]
Chr3:129249749 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.51G>A (p.Thr17=) |
single nucleotide variant |
not provided [RCV002976331] |
Chr3:129528784 [GRCh38]
Chr3:129247627 [GRCh37]
Chr3:3q22.1 |
likely benign|uncertain significance |
| NM_000539.3(RHO):c.355C>G (p.Leu119Val) |
single nucleotide variant |
not provided [RCV003038446] |
Chr3:129529088 [GRCh38]
Chr3:129247931 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.846C>T (p.Asn282=) |
single nucleotide variant |
not provided [RCV002619680] |
Chr3:129532682 [GRCh38]
Chr3:129251525 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.362-20G>A |
single nucleotide variant |
not provided [RCV002700787] |
Chr3:129530856 [GRCh38]
Chr3:129249699 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.595AAC[1] (p.Asn200del) |
microsatellite |
not provided [RCV002711381] |
Chr3:129532314..129532316 [GRCh38]
Chr3:129251157..129251159 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.330C>G (p.Cys110Trp) |
single nucleotide variant |
not provided [RCV002957536] |
Chr3:129529063 [GRCh38]
Chr3:129247906 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.696+15G>A |
single nucleotide variant |
not provided [RCV002625986] |
Chr3:129532431 [GRCh38]
Chr3:129251274 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.679G>A (p.Val227Ile) |
single nucleotide variant |
not provided [RCV002666757] |
Chr3:129532399 [GRCh38]
Chr3:129251242 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.697-19C>G |
single nucleotide variant |
not provided [RCV002954284] |
Chr3:129532514 [GRCh38]
Chr3:129251357 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.739G>A (p.Glu247Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002787981] |
Chr3:129532575 [GRCh38]
Chr3:129251418 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.617A>C (p.Tyr206Ser) |
single nucleotide variant |
not provided [RCV002890549] |
Chr3:129532337 [GRCh38]
Chr3:129251180 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.659T>G (p.Phe220Cys) |
single nucleotide variant |
not provided [RCV002664319] |
Chr3:129532379 [GRCh38]
Chr3:129251222 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.319C>T (p.Pro107Ser) |
single nucleotide variant |
Retinal dystrophy [RCV003889254]|not provided [RCV002624188] |
Chr3:129529052 [GRCh38]
Chr3:129247895 [GRCh37]
Chr3:3q22.1 |
likely benign|uncertain significance |
| NM_000539.3(RHO):c.1008C>T (p.Thr336=) |
single nucleotide variant |
not provided [RCV002596977] |
Chr3:129533679 [GRCh38]
Chr3:129252522 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.678C>T (p.Leu226=) |
single nucleotide variant |
not provided [RCV002666653] |
Chr3:129532398 [GRCh38]
Chr3:129251241 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.699C>G (p.Ala233=) |
single nucleotide variant |
not provided [RCV002667523] |
Chr3:129532535 [GRCh38]
Chr3:129251378 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.937-27_937-19del |
deletion |
not provided [RCV003040389] |
Chr3:129533581..129533589 [GRCh38]
Chr3:129252424..129252432 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.805G>A (p.Ala269Thr) |
single nucleotide variant |
not provided [RCV002852142] |
Chr3:129532641 [GRCh38]
Chr3:129251484 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.641T>A (p.Ile214Asn) |
single nucleotide variant |
not provided [RCV002664318] |
Chr3:129532361 [GRCh38]
Chr3:129251204 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.364G>T (p.Glu122Ter) |
single nucleotide variant |
not provided [RCV003049350] |
Chr3:129530878 [GRCh38]
Chr3:129249721 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.594C>G (p.Val198=) |
single nucleotide variant |
not provided [RCV003087350] |
Chr3:129532314 [GRCh38]
Chr3:129251157 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.889A>C (p.Ser297Arg) |
single nucleotide variant |
not provided [RCV002938756] |
Chr3:129532725 [GRCh38]
Chr3:129251568 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.233A>T (p.Asn78Ile) |
single nucleotide variant |
Retinal dystrophy [RCV003889267]|not provided [RCV002651738] |
Chr3:129528966 [GRCh38]
Chr3:129247809 [GRCh37]
Chr3:3q22.1 |
pathogenic|uncertain significance |
| NM_000539.3(RHO):c.1039C>G (p.Pro347Ala) |
single nucleotide variant |
not provided [RCV002651744] |
Chr3:129533710 [GRCh38]
Chr3:129252553 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.502G>C (p.Ala168Pro) |
single nucleotide variant |
not provided [RCV003008402] |
Chr3:129531016 [GRCh38]
Chr3:129249859 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.53G>C (p.Gly18Ala) |
single nucleotide variant |
not provided [RCV002672089] |
Chr3:129528786 [GRCh38]
Chr3:129247629 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.99G>C (p.Glu33Asp) |
single nucleotide variant |
not provided [RCV003046374] |
Chr3:129528832 [GRCh38]
Chr3:129247675 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.721G>T (p.Ala241Ser) |
single nucleotide variant |
not provided [RCV002746744] |
Chr3:129532557 [GRCh38]
Chr3:129251400 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.71T>G (p.Phe24Cys) |
single nucleotide variant |
not provided [RCV002807022] |
Chr3:129528804 [GRCh38]
Chr3:129247647 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.585G>A (p.Lys195=) |
single nucleotide variant |
not provided [RCV003043934] |
Chr3:129532305 [GRCh38]
Chr3:129251148 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.347T>A (p.Phe116Tyr) |
single nucleotide variant |
not provided [RCV002631095] |
Chr3:129529080 [GRCh38]
Chr3:129247923 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.374T>G (p.Leu125Arg) |
single nucleotide variant |
not provided [RCV002651739] |
Chr3:129530888 [GRCh38]
Chr3:129249731 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.531-2A>G |
single nucleotide variant |
not provided [RCV002651740] |
Chr3:129532249 [GRCh38]
Chr3:129251092 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.554G>A (p.Cys185Tyr) |
single nucleotide variant |
not provided [RCV002649853] |
Chr3:129532274 [GRCh38]
Chr3:129251117 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.277A>C (p.Ser93Arg) |
single nucleotide variant |
not provided [RCV002657777] |
Chr3:129529010 [GRCh38]
Chr3:129247853 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.816A>T (p.Ala272=) |
single nucleotide variant |
not provided [RCV003052466] |
Chr3:129532652 [GRCh38]
Chr3:129251495 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.888G>T (p.Lys296Asn) |
single nucleotide variant |
Retinitis pigmentosa [RCV003228228] |
Chr3:129532724 [GRCh38]
Chr3:129251567 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.259G>T (p.Val87Phe) |
single nucleotide variant |
not provided [RCV003327125] |
Chr3:129528992 [GRCh38]
Chr3:129247835 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.991G>C (p.Asp331His) |
single nucleotide variant |
Inborn genetic diseases [RCV003360344] |
Chr3:129533662 [GRCh38]
Chr3:129252505 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.1014C>A (p.Ser338=) |
single nucleotide variant |
not provided [RCV003875259] |
Chr3:129533685 [GRCh38]
Chr3:129252528 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.489G>A (p.Met163Ile) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV003389585] |
Chr3:129531003 [GRCh38]
Chr3:129249846 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.329G>T (p.Cys110Phe) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV003389621]|not provided [RCV003553893] |
Chr3:129529062 [GRCh38]
Chr3:129247905 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_000539.3(RHO):c.400G>A (p.Glu134Lys) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV003389582] |
Chr3:129530914 [GRCh38]
Chr3:129249757 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.546C>T (p.Gly182=) |
single nucleotide variant |
not provided [RCV003691424] |
Chr3:129532266 [GRCh38]
Chr3:129251109 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.322A>G (p.Thr108Ala) |
single nucleotide variant |
not provided [RCV003660064] |
Chr3:129529055 [GRCh38]
Chr3:129247898 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.696+14G>C |
single nucleotide variant |
not provided [RCV003544855] |
Chr3:129532430 [GRCh38]
Chr3:129251273 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.511C>A (p.Pro171Thr) |
single nucleotide variant |
not provided [RCV003686762] |
Chr3:129531025 [GRCh38]
Chr3:129249868 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.361+1G>A |
single nucleotide variant |
not provided [RCV003713656] |
Chr3:129529095 [GRCh38]
Chr3:129247938 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.299A>C (p.His100Pro) |
single nucleotide variant |
not provided [RCV003543994] |
Chr3:129529032 [GRCh38]
Chr3:129247875 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.67C>A (p.Pro23Thr) |
single nucleotide variant |
Retinitis pigmentosa 4 [RCV003883226] |
Chr3:129528800 [GRCh38]
Chr3:129247643 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.986G>A (p.Gly329Asp) |
single nucleotide variant |
not provided [RCV003700030] |
Chr3:129533657 [GRCh38]
Chr3:129252500 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.66C>T (p.Ser22=) |
single nucleotide variant |
not provided [RCV003549989] |
Chr3:129528799 [GRCh38]
Chr3:129247642 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.92T>C (p.Leu31Pro) |
single nucleotide variant |
not provided [RCV003699442] |
Chr3:129528825 [GRCh38]
Chr3:129247668 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.450G>C (p.Glu150Asp) |
single nucleotide variant |
not provided [RCV003725880] |
Chr3:129530964 [GRCh38]
Chr3:129249807 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.1A>G (p.Met1Val) |
single nucleotide variant |
not provided [RCV003670865] |
Chr3:129528734 [GRCh38]
Chr3:129247577 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.696+12G>C |
single nucleotide variant |
not provided [RCV003855340] |
Chr3:129532428 [GRCh38]
Chr3:129251271 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.361+11G>T |
single nucleotide variant |
not provided [RCV003836650] |
Chr3:129529105 [GRCh38]
Chr3:129247948 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.894C>T (p.Ala298=) |
single nucleotide variant |
not provided [RCV003838022] |
Chr3:129532730 [GRCh38]
Chr3:129251573 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.683T>C (p.Phe228Ser) |
single nucleotide variant |
not provided [RCV003668156] |
Chr3:129532403 [GRCh38]
Chr3:129251246 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.536T>A (p.Ile179Asn) |
single nucleotide variant |
not provided [RCV003699594] |
Chr3:129532256 [GRCh38]
Chr3:129251099 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.999del (p.Ser334fs) |
deletion |
not provided [RCV003701630] |
Chr3:129533669 [GRCh38]
Chr3:129252512 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.302G>A (p.Gly101Glu) |
single nucleotide variant |
not provided [RCV003555098] |
Chr3:129529035 [GRCh38]
Chr3:129247878 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.556T>C (p.Ser186Pro) |
single nucleotide variant |
not provided [RCV003555099] |
Chr3:129532276 [GRCh38]
Chr3:129251119 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.865A>C (p.Thr289Pro) |
single nucleotide variant |
not provided [RCV003555100] |
Chr3:129532701 [GRCh38]
Chr3:129251544 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.362-11_362-10delinsAA |
indel |
not provided [RCV003565050] |
Chr3:129530865..129530866 [GRCh38]
Chr3:129249708..129249709 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.758T>C (p.Met253Thr) |
single nucleotide variant |
not provided [RCV003848488] |
Chr3:129532594 [GRCh38]
Chr3:129251437 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.711G>T (p.Gln237His) |
single nucleotide variant |
not provided [RCV003707027] |
Chr3:129532547 [GRCh38]
Chr3:129251390 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.810C>T (p.Ser270=) |
single nucleotide variant |
not provided [RCV003727393] |
Chr3:129532646 [GRCh38]
Chr3:129251489 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.380C>A (p.Ser127Tyr) |
single nucleotide variant |
not provided [RCV003706440] |
Chr3:129530894 [GRCh38]
Chr3:129249737 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.102A>G (p.Pro34=) |
single nucleotide variant |
not provided [RCV003542789] |
Chr3:129528835 [GRCh38]
Chr3:129247678 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.361+9C>T |
single nucleotide variant |
not provided [RCV003821432] |
Chr3:129529103 [GRCh38]
Chr3:129247946 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.318G>A (p.Gly106=) |
single nucleotide variant |
not provided [RCV003706051] |
Chr3:129529051 [GRCh38]
Chr3:129247894 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.936+12G>A |
single nucleotide variant |
not provided [RCV003862988] |
Chr3:129532784 [GRCh38]
Chr3:129251627 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.1011G>A (p.Val337=) |
single nucleotide variant |
not provided [RCV003706119] |
Chr3:129533682 [GRCh38]
Chr3:129252525 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.706C>A (p.Gln236Lys) |
single nucleotide variant |
not provided [RCV003676019] |
Chr3:129532542 [GRCh38]
Chr3:129251385 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.936+11C>T |
single nucleotide variant |
not provided [RCV003821161] |
Chr3:129532783 [GRCh38]
Chr3:129251626 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.121G>A (p.Ala41Thr) |
single nucleotide variant |
not provided [RCV003722060] |
Chr3:129528854 [GRCh38]
Chr3:129247697 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.71T>C (p.Phe24Ser) |
single nucleotide variant |
not provided [RCV003564497] |
Chr3:129528804 [GRCh38]
Chr3:129247647 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.893C>T (p.Ala298Val) |
single nucleotide variant |
not provided [RCV003682751] |
Chr3:129532729 [GRCh38]
Chr3:129251572 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.128A>G (p.Tyr43Cys) |
single nucleotide variant |
not provided [RCV003818353] |
Chr3:129528861 [GRCh38]
Chr3:129247704 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.1014C>T (p.Ser338=) |
single nucleotide variant |
not provided [RCV003842391] |
Chr3:129533685 [GRCh38]
Chr3:129252528 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.432C>T (p.Ser144=) |
single nucleotide variant |
not provided [RCV003843557] |
Chr3:129530946 [GRCh38]
Chr3:129249789 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_000539.3(RHO):c.937-1G>A |
single nucleotide variant |
not provided [RCV003555101] |
Chr3:129533607 [GRCh38]
Chr3:129252450 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.937-1G>T |
single nucleotide variant |
not provided [RCV003555102] |
Chr3:129533607 [GRCh38]
Chr3:129252450 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_000539.3(RHO):c.995_1011del (p.Glu332fs) |
deletion |
not provided [RCV003555103] |
Chr3:129533664..129533680 [GRCh38]
Chr3:129252507..129252523 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.856A>G (p.Ile286Val) |
single nucleotide variant |
Retinal dystrophy [RCV003890833] |
Chr3:129532692 [GRCh38]
Chr3:129251535 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.948C>A (p.Cys316Ter) |
single nucleotide variant |
Retinal dystrophy [RCV003890836] |
Chr3:129533619 [GRCh38]
Chr3:129252462 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.11C>A (p.Thr4Lys) |
single nucleotide variant |
Retinal dystrophy [RCV003890822] |
Chr3:129528744 [GRCh38]
Chr3:129247587 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.578C>A (p.Thr193Lys) |
single nucleotide variant |
Retinal dystrophy [RCV003890830] |
Chr3:129532298 [GRCh38]
Chr3:129251141 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.38T>C (p.Phe13Ser) |
single nucleotide variant |
Retinal dystrophy [RCV003890823] |
Chr3:129528771 [GRCh38]
Chr3:129247614 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.82C>G (p.Gln28Glu) |
single nucleotide variant |
Retinal dystrophy [RCV003890824] |
Chr3:129528815 [GRCh38]
Chr3:129247658 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.836A>C (p.Gln279Pro) |
single nucleotide variant |
Retinal dystrophy [RCV003890832] |
Chr3:129532672 [GRCh38]
Chr3:129251515 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.177C>G (p.Leu59=) |
single nucleotide variant |
Retinal dystrophy [RCV003890825] |
Chr3:129528910 [GRCh38]
Chr3:129247753 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_000539.3(RHO):c.296T>C (p.Leu99Pro) |
single nucleotide variant |
Retinal dystrophy [RCV003890829] |
Chr3:129529029 [GRCh38]
Chr3:129247872 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.681C>T (p.Val227=) |
single nucleotide variant |
Retinal dystrophy [RCV003890831] |
Chr3:129532401 [GRCh38]
Chr3:129251244 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.918T>A (p.Tyr306Ter) |
single nucleotide variant |
Retinal dystrophy [RCV003890835] |
Chr3:129532754 [GRCh38]
Chr3:129251597 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_000539.3(RHO):c.226C>T (p.Leu76=) |
single nucleotide variant |
Retinal dystrophy [RCV003890826] |
Chr3:129528959 [GRCh38]
Chr3:129247802 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.273C>T (p.Phe91=) |
single nucleotide variant |
Retinal dystrophy [RCV003890827] |
Chr3:129529006 [GRCh38]
Chr3:129247849 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.282C>G (p.Thr94=) |
single nucleotide variant |
Retinal dystrophy [RCV003890828] |
Chr3:129529015 [GRCh38]
Chr3:129247858 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_000539.3(RHO):c.869T>A (p.Ile290Asn) |
single nucleotide variant |
Retinal dystrophy [RCV003890834] |
Chr3:129532705 [GRCh38]
Chr3:129251548 [GRCh37]
Chr3:3q22.1 |
benign |
