| 11593843 | CV292096 | single nucleotide variant | NM_144499.3(GNAT1):c.*5C>T | Congenital stationary night blindness autosomal dominant 3 [RCV000352825]|not provided [RCV004695754] | uncertain significance | 3 | 50195271 | 50195271 | Human | 1 | name |
| 11598577 | CV295451 | single nucleotide variant | NM_144499.3(GNAT1):c.-2C>G | Congenital stationary night blindness autosomal dominant 3 [RCV000407450] | benign|uncertain significance | 3 | 50191724 | 50191724 | Human | 1 | name |
| 11598018 | CV291130 | single nucleotide variant | NM_144499.3(GNAT1):c.*516T>G | Congenital stationary night blindness autosomal dominant 3 [RCV000400380]|not provided [RCV004716076] | benign | 3 | 50195782 | 50195782 | Human | 3 | name |
| 11598018 | CV291130 | single nucleotide variant | NM_144499.3(GNAT1):c.*516T>G | Congenital stationary night blindness autosomal dominant 3 [RCV000400380]|not provided [RCV004716076] | benign | 3 | 50195782 | 50195783 | Human | 3 | name |
| 11662929 | CV292101 | single nucleotide variant | NM_144499.3(GNAT1):c.*128T>A | Congenital stationary night blindness autosomal dominant 3 [RCV000390446] | uncertain significance | 3 | 50195394 | 50195394 | Human | 1 | name |
| 11587370 | CV292117 | single nucleotide variant | NM_144499.3(GNAT1):c.*183C>G | Congenital stationary night blindness autosomal dominant 3 [RCV000294447] | benign|uncertain significance | 3 | 50195449 | 50195449 | Human | 1 | name |
| 11592319 | CV292118 | single nucleotide variant | NM_144499.3(GNAT1):c.*410A>G | Congenital stationary night blindness autosomal dominant 3 [RCV000337720] | benign|uncertain significance | 3 | 50195676 | 50195676 | Human | 1 | name |
| 11594043 | CV295475 | single nucleotide variant | NM_144499.3(GNAT1):c.*618C>T | Congenital stationary night blindness autosomal dominant 3 [RCV000354993]|not provided [RCV004716077] | benign | 3 | 50195884 | 50195884 | Human | 1 | name |
| 11587810 | CV295650 | single nucleotide variant | NM_144499.3(GNAT1):c.*551C>T | Congenital stationary night blindness autosomal dominant 3 [RCV000297759] | likely benign|uncertain significance | 3 | 50195817 | 50195817 | Human | 1 | name |
| 28872951 | CV889395 | single nucleotide variant | NM_144499.3(GNAT1):c.*678C>T | Congenital stationary night blindness autosomal dominant 3 [RCV001146522] | uncertain significance | 3 | 50195944 | 50195944 | Human | 1 | name |
| 28872954 | CV889396 | single nucleotide variant | NM_144499.3(GNAT1):c.*728C>T | Congenital stationary night blindness autosomal dominant 3 [RCV001146523] | uncertain significance | 3 | 50195994 | 50195994 | Human | 1 | name |
| 28872957 | CV889397 | single nucleotide variant | NM_144499.3(GNAT1):c.*806G>A | Congenital stationary night blindness autosomal dominant 3 [RCV001146524] | uncertain significance | 3 | 50196072 | 50196072 | Human | 1 | name |
| 28872960 | CV889398 | single nucleotide variant | NM_144499.3(GNAT1):c.*834T>A | Congenital stationary night blindness autosomal dominant 3 [RCV001146525] | uncertain significance | 3 | 50196100 | 50196100 | Human | 1 | name |
| 28872961 | CV889399 | single nucleotide variant | NM_144499.3(GNAT1):c.*903G>A | Congenital stationary night blindness autosomal dominant 3 [RCV001146526] | uncertain significance | 3 | 50196169 | 50196169 | Human | 1 | name |
| 126912680 | CV1042338 | single nucleotide variant | NM_144499.3(GNAT1):c.149+3G>A | not provided [RCV001358905] | uncertain significance | 3 | 50193178 | 50193178 | Human | | name |
| 127280415 | CV1071083 | single nucleotide variant | NM_144499.3(GNAT1):c.863-5C>T | not provided [RCV001409763] | likely benign | 3 | 50194760 | 50194760 | Human | | name |
| 127292221 | CV1114228 | single nucleotide variant | NM_144499.3(GNAT1):c.107-6T>C | not provided [RCV001458920] | likely benign | 3 | 50193127 | 50193127 | Human | | name |
| 127319948 | CV1135123 | single nucleotide variant | NM_144499.3(GNAT1):c.450-6G>A | not provided [RCV001484027] | likely benign | 3 | 50193747 | 50193747 | Human | | name |
| 151843145 | CV1418399 | single nucleotide variant | NM_144499.3(GNAT1):c.863-5C>G | not provided [RCV001903095] | uncertain significance | 3 | 50194760 | 50194760 | Human | | name |
| 151808942 | CV1500858 | single nucleotide variant | NM_144499.3(GNAT1):c.708+3G>A | not provided [RCV001974590] | uncertain significance | 3 | 50194224 | 50194224 | Human | | name |
| 151836914 | CV1501053 | single nucleotide variant | NM_144499.3(GNAT1):c.578+1G>C | not provided [RCV001977242] | likely pathogenic | 3 | 50193882 | 50193882 | Human | | name |
| 152075494 | CV1652981 | single nucleotide variant | NM_144499.3(GNAT1):c.579-5C>T | not provided [RCV002148641] | likely benign | 3 | 50194087 | 50194087 | Human | | name |
| 156263012 | CV1977624 | single nucleotide variant | NM_144499.3(GNAT1):c.863-4G>C | not provided [RCV002597844] | uncertain significance | 3 | 50194761 | 50194761 | Human | | name |
| 156252270 | CV1984886 | single nucleotide variant | NM_144499.3(GNAT1):c.579-1G>A | not provided [RCV002645935] | likely pathogenic | 3 | 50194091 | 50194091 | Human | | name |
| 156244816 | CV2187331 | single nucleotide variant | NM_144499.3(GNAT1):c.150-4T>C | not provided [RCV003059792] | likely benign | 3 | 50193261 | 50193261 | Human | | name |
| 11583765 | CV291131 | single nucleotide variant | NM_144499.3(GNAT1):c.*1397G>T | Congenital stationary night blindness autosomal dominant 3 [RCV000268806] | benign|likely benign | 3 | 50196663 | 50196663 | Human | 1 | name |
| 11596900 | CV291137 | single nucleotide variant | NM_144499.3(GNAT1):c.*1789A>G | Congenital stationary night blindness autosomal dominant 3 [RCV000387827] | uncertain significance | 3 | 50197055 | 50197055 | Human | 1 | name |
| 11584902 | CV291139 | single nucleotide variant | NM_144499.3(GNAT1):c.*1954C>T | Congenital stationary night blindness autosomal dominant 3 [RCV000277170] | likely benign|uncertain significance | 3 | 50197220 | 50197220 | Human | 1 | name |
| 11594290 | CV292119 | single nucleotide variant | NM_144499.3(GNAT1):c.*1187G>A | Congenital stationary night blindness autosomal dominant 3 [RCV000357604] | benign|likely benign | 3 | 50196453 | 50196453 | Human | 1 | name |
| 11591165 | CV292121 | single nucleotide variant | NM_144499.3(GNAT1):c.*1427A>G | Congenital stationary night blindness autosomal dominant 3 [RCV000326318] | benign | 3 | 50196693 | 50196693 | Human | 1 | name |
| 11662536 | CV292122 | single nucleotide variant | NM_144499.3(GNAT1):c.*2074T>C | Congenital stationary night blindness autosomal dominant 3 [RCV000386830] | uncertain significance | 3 | 50197340 | 50197340 | Human | 1 | name |
| 11588734 | CV295476 | single nucleotide variant | NM_144499.3(GNAT1):c.*1174G>A | Congenital stationary night blindness autosomal dominant 3 [RCV000305187] | benign|likely benign | 3 | 50196440 | 50196440 | Human | 1 | name |
| 11645375 | CV295477 | single nucleotide variant | NM_144499.3(GNAT1):c.*1205C>T | Congenital stationary night blindness autosomal dominant 3 [RCV000265118] | uncertain significance | 3 | 50196471 | 50196471 | Human | 1 | name |
| 11591280 | CV295492 | single nucleotide variant | NM_144499.3(GNAT1):c.*1369G>T | Congenital stationary night blindness autosomal dominant 3 [RCV000327289] | uncertain significance | 3 | 50196635 | 50196635 | Human | 1 | name |
| 11660315 | CV295493 | single nucleotide variant | NM_144499.3(GNAT1):c.*1379G>A | Congenital stationary night blindness autosomal dominant 3 [RCV000365799] | uncertain significance | 3 | 50196645 | 50196645 | Human | 1 | name |
| 11648315 | CV295500 | single nucleotide variant | NM_144499.3(GNAT1):c.*2129G>A | Congenital stationary night blindness autosomal dominant 3 [RCV000281127] | uncertain significance | 3 | 50197395 | 50197395 | Human | 1 | name |
| 11657096 | CV295503 | single nucleotide variant | NM_144499.3(GNAT1):c.*2267C>T | Congenital stationary night blindness autosomal dominant 3 [RCV000338483] | uncertain significance | 3 | 50197533 | 50197533 | Human | 1 | name |
| 11663119 | CV295656 | single nucleotide variant | NM_144499.3(GNAT1):c.*1101C>T | Congenital stationary night blindness autosomal dominant 3 [RCV000392511] | uncertain significance | 3 | 50196367 | 50196367 | Human | 1 | name |
| 11656005 | CV295667 | single nucleotide variant | NM_144499.3(GNAT1):c.*1991G>A | Congenital stationary night blindness autosomal dominant 3 [RCV000329955] | uncertain significance | 3 | 50197257 | 50197257 | Human | 1 | name |
| 405125108 | CV3021163 | single nucleotide variant | NM_144499.3(GNAT1):c.450-7C>T | not provided [RCV003701102] | likely benign | 3 | 50193746 | 50193746 | Human | | name |
| 597887954 | CV3787656 | single nucleotide variant | NM_144499.3(GNAT1):c.708+6T>C | not provided [RCV005125222] | uncertain significance | 3 | 50194227 | 50194227 | Human | | name |
| 28880345 | CV889400 | single nucleotide variant | NM_144499.3(GNAT1):c.*1274G>A | Congenital stationary night blindness autosomal dominant 3 [RCV001149290] | uncertain significance | 3 | 50196540 | 50196540 | Human | 1 | name |
| 28885192 | CV889401 | single nucleotide variant | NM_144499.3(GNAT1):c.*1990G>A | Congenital stationary night blindness autosomal dominant 3 [RCV001150784] | benign | 3 | 50197256 | 50197256 | Human | 1 | name |
| 28885197 | CV889402 | single nucleotide variant | NM_144499.3(GNAT1):c.*2046G>C | Congenital stationary night blindness autosomal dominant 3 [RCV001150785] | uncertain significance | 3 | 50197312 | 50197312 | Human | 1 | name |
| 28885201 | CV889403 | single nucleotide variant | NM_144499.3(GNAT1):c.*2128C>A | Congenital stationary night blindness autosomal dominant 3 [RCV001150786] | uncertain significance | 3 | 50197394 | 50197394 | Human | 1 | name |
| 28904935 | CV889404 | single nucleotide variant | NM_144499.3(GNAT1):c.*2329A>G | Congenital stationary night blindness autosomal dominant 3 [RCV001144677] | benign | 3 | 50197595 | 50197595 | Human | 1 | name |
| 28880023 | CV891690 | single nucleotide variant | NM_144499.3(GNAT1):c.149+8C>A | Congenital stationary night blindness autosomal dominant 3 [RCV001149174]|not provided [RCV002559435] | likely benign|uncertain significance | 3 | 50193183 | 50193183 | Human | 1 | name |
| 38468120 | CV939950 | single nucleotide variant | NM_144499.3(GNAT1):c.292-3C>T | GNAT1-related disorder [RCV003963121]|not provided [RCV001202145] | likely benign|uncertain significance | 3 | 50193503 | 50193503 | Human | 1 | name , trait , alternate_id |
| 127259944 | CV1071081 | single nucleotide variant | NM_144499.3(GNAT1):c.708+10A>T | not provided [RCV001402086] | likely benign | 3 | 50194231 | 50194231 | Human | | name |
| 127331573 | CV1135125 | single nucleotide variant | NM_144499.3(GNAT1):c.579-10G>C | not provided [RCV001488899] | likely benign | 3 | 50194082 | 50194082 | Human | | name |
| 127299390 | CV1154516 | deletion | NM_144499.3(GNAT1):c.149+11del | not provided [RCV001513659] | benign | 3 | 50193183 | 50193183 | Human | | name |
| 127296800 | CV1154517 | single nucleotide variant | NM_144499.3(GNAT1):c.150-17G>A | not provided [RCV001512653] | benign | 3 | 50193248 | 50193248 | Human | | name |
| 127314347 | CV1154518 | single nucleotide variant | NM_144499.3(GNAT1):c.862+11C>T | not provided [RCV001519580] | benign | 3 | 50194665 | 50194665 | Human | | name |
| 150547594 | CV1292091 | single nucleotide variant | NM_144499.3(GNAT1):c.450-11G>T | Congenital stationary night blindness autosomal dominant 3 [RCV001733757] | uncertain significance | 3 | 50193742 | 50193742 | Human | 1 | name |
| 152091639 | CV1528804 | single nucleotide variant | NM_144499.3(GNAT1):c.449+13G>A | not provided [RCV002094264] | likely benign | 3 | 50193676 | 50193676 | Human | | name |
| 152109237 | CV1530070 | deletion | NM_144499.3(GNAT1):c.291+14del | not provided [RCV002196551] | likely benign | 3 | 50193420 | 50193420 | Human | | name |
| 152119882 | CV1547175 | single nucleotide variant | NM_144499.3(GNAT1):c.578+16T>C | not provided [RCV002154119] | likely benign | 3 | 50193897 | 50193897 | Human | | name |
| 152111385 | CV1551421 | single nucleotide variant | NM_144499.3(GNAT1):c.863-11C>G | not provided [RCV002196822] | likely benign | 3 | 50194754 | 50194754 | Human | | name |
| 152063343 | CV1554359 | single nucleotide variant | NM_144499.3(GNAT1):c.579-16C>G | not provided [RCV002190799] | likely benign | 3 | 50194076 | 50194076 | Human | | name |
| 152074287 | CV1557507 | single nucleotide variant | NM_144499.3(GNAT1):c.708+17G>A | not provided [RCV002130008] | likely benign | 3 | 50194238 | 50194238 | Human | | name |
| 152150666 | CV1559520 | single nucleotide variant | NM_144499.3(GNAT1):c.579-17C>G | not provided [RCV002220762] | likely benign | 3 | 50194075 | 50194075 | Human | | name |
| 152065931 | CV1565020 | single nucleotide variant | NM_144499.3(GNAT1):c.291+12G>A | not provided [RCV002090917] | likely benign | 3 | 50193418 | 50193418 | Human | | name |
| 152167120 | CV1577363 | single nucleotide variant | NM_144499.3(GNAT1):c.107-11G>T | not provided [RCV002204624] | likely benign | 3 | 50193122 | 50193122 | Human | | name |
| 152088047 | CV1628663 | single nucleotide variant | NM_144499.3(GNAT1):c.150-17G>C | not provided [RCV002171460] | likely benign | 3 | 50193248 | 50193248 | Human | | name |
| 152066107 | CV1646962 | single nucleotide variant | NM_144499.3(GNAT1):c.291+18C>T | not provided [RCV002129000] | likely benign | 3 | 50193424 | 50193424 | Human | | name |
| 152120256 | CV1657444 | single nucleotide variant | NM_144499.3(GNAT1):c.291+11A>C | not provided [RCV002216679] | likely benign | 3 | 50193417 | 50193417 | Human | | name |
| 152033033 | CV1657699 | single nucleotide variant | NM_144499.3(GNAT1):c.449+11G>C | not provided [RCV002187011] | likely benign | 3 | 50193674 | 50193674 | Human | | name |
| 155267671 | CV1705071 | single nucleotide variant | NM_144499.3(GNAT1):c.292-37C>T | not provided [RCV002285676] | likely benign | 3 | 50193469 | 50193469 | Human | | name |
| 156226815 | CV1958808 | single nucleotide variant | NM_144499.3(GNAT1):c.578+13C>T | not provided [RCV002596660] | likely benign | 3 | 50193894 | 50193894 | Human | | name |
| 155969791 | CV1968163 | single nucleotide variant | NM_144499.3(GNAT1):c.578+18G>A | not provided [RCV002617127] | likely benign | 3 | 50193899 | 50193899 | Human | | name |
| 156372069 | CV1993578 | single nucleotide variant | NM_144499.3(GNAT1):c.450-18C>T | not provided [RCV002652980] | likely benign | 3 | 50193735 | 50193735 | Human | | name |
| 156373438 | CV2003705 | single nucleotide variant | NM_144499.3(GNAT1):c.291+14C>A | not provided [RCV002653092] | likely benign | 3 | 50193420 | 50193420 | Human | | name |
| 156095042 | CV2004529 | single nucleotide variant | NM_144499.3(GNAT1):c.578+20C>A | not provided [RCV002639362] | likely benign | 3 | 50193901 | 50193901 | Human | | name |
| 156191334 | CV2086764 | single nucleotide variant | NM_144499.3(GNAT1):c.291+15G>A | not provided [RCV002852148] | likely benign | 3 | 50193421 | 50193421 | Human | | name |
| 156201685 | CV2150053 | single nucleotide variant | NM_144499.3(GNAT1):c.107-14C>T | not provided [RCV003006347] | likely benign | 3 | 50193119 | 50193119 | Human | | name |
| 156060834 | CV2155092 | single nucleotide variant | NM_144499.3(GNAT1):c.449+12G>A | not provided [RCV003000197] | likely benign | 3 | 50193675 | 50193675 | Human | | name |
| 155986301 | CV2159727 | single nucleotide variant | NM_144499.3(GNAT1):c.106+10T>A | not provided [RCV003034113] | likely benign|uncertain significance | 3 | 50191841 | 50191841 | Human | | name |
| 405223860 | CV2919193 | single nucleotide variant | NM_144499.3(GNAT1):c.578+10A>T | not provided [RCV003568834] | likely benign | 3 | 50193891 | 50193891 | Human | | name |
| 402507416 | CV2944460 | single nucleotide variant | NM_144499.3(GNAT1):c.862+19C>T | not provided [RCV003662206] | likely benign | 3 | 50194673 | 50194673 | Human | | name |
| 405169750 | CV2951195 | single nucleotide variant | NM_144499.3(GNAT1):c.863-14T>C | not provided [RCV003675322] | likely benign | 3 | 50194751 | 50194751 | Human | | name |
| 405241248 | CV2970712 | single nucleotide variant | NM_144499.3(GNAT1):c.450-18C>G | not provided [RCV003684089] | uncertain significance | 3 | 50193735 | 50193735 | Human | | name |
| 405060155 | CV3029875 | single nucleotide variant | NM_144499.3(GNAT1):c.709-18A>T | not provided [RCV003697622] | uncertain significance | 3 | 50194483 | 50194483 | Human | | name |
| 405234601 | CV3040636 | single nucleotide variant | NM_144499.3(GNAT1):c.579-17C>A | not provided [RCV003712104] | likely benign | 3 | 50194075 | 50194075 | Human | | name |
| 404976940 | CV3117418 | single nucleotide variant | NM_144499.3(GNAT1):c.450-19A>G | not provided [RCV003825189] | likely benign | 3 | 50193734 | 50193734 | Human | | name |
| 405134176 | CV3133887 | single nucleotide variant | NM_144499.3(GNAT1):c.579-17C>T | not provided [RCV003838666] | likely benign | 3 | 50194075 | 50194075 | Human | | name |
| 405196631 | CV3146647 | single nucleotide variant | NM_144499.3(GNAT1):c.578+13C>A | not provided [RCV003844002] | likely benign | 3 | 50193894 | 50193894 | Human | | name |
| 597921139 | CV3738159 | single nucleotide variant | NM_144499.3(GNAT1):c.862+19C>A | not provided [RCV005074758] | likely benign | 3 | 50194673 | 50194673 | Human | | name |
| 597963837 | CV3830309 | single nucleotide variant | NM_144499.3(GNAT1):c.862+12G>A | not provided [RCV005164449] | likely benign | 3 | 50194666 | 50194666 | Human | | name |
| 150515371 | CV1227535 | single nucleotide variant | NM_144499.3(GNAT1):c.709-107C>T | not provided [RCV001638808] | benign | 3 | 50194394 | 50194394 | Human | | name |
| 150489401 | CV1250549 | single nucleotide variant | NM_144499.3(GNAT1):c.106+120G>A | not provided [RCV001674512] | benign | 3 | 50191951 | 50191951 | Human | | name |
| 150483372 | CV1280193 | single nucleotide variant | NM_144499.3(GNAT1):c.106+233C>T | not provided [RCV001715177] | benign | 3 | 50192064 | 50192064 | Human | | name |
| 156229140 | CV2164905 | duplication | NM_144499.3(GNAT1):c.448_449+2dup | not provided [RCV003043016] | uncertain significance | 3 | 50193661 | 50193662 | Human | | name |
| 156365745 | CV2106063 | single nucleotide variant | NM_144499.3(GNAT1):c.21T>C (p.Ala7=) | not provided [RCV002941941] | likely benign | 3 | 50191746 | 50191746 | Human | | name |
| 21405025 | CV800492 | deletion | NM_144499.3(GNAT1):c.8del (p.Ala3fs) | Retinitis pigmentosa [RCV001003035] | pathogenic | 3 | 50191733 | 50191733 | Human | 2 | name |
| 28872679 | CV889391 | single nucleotide variant | NM_144499.3(GNAT1):c.15C>T (p.Ala5=) | Congenital stationary night blindness autosomal dominant 3 [RCV001146393]|not provided [RCV002070774] | likely benign | 3 | 50191740 | 50191740 | Human | 1 | name |
| 126725711 | CV1025382 | single nucleotide variant | NM_144499.3(GNAT1):c.3G>C (p.Met1Ile) | not provided [RCV001348235] | uncertain significance | 3 | 50191728 | 50191728 | Human | | name |
| 127282306 | CV1071077 | single nucleotide variant | NM_144499.3(GNAT1):c.87C>T (p.Thr29=) | not provided [RCV001411050] | likely benign | 3 | 50191812 | 50191812 | Human | | name |
| 127293904 | CV1114227 | single nucleotide variant | NM_144499.3(GNAT1):c.66C>T (p.Asp22=) | GNAT1-related disorder [RCV004758171]|not provided [RCV001459314] | likely benign | 3 | 50191791 | 50191791 | Human | 1 | name , trait , alternate_id |
| 127328765 | CV1135122 | microsatellite | NM_144499.3(GNAT1):c.449+27_449+40del | not provided [RCV001486954] | likely benign | 3 | 50193679 | 50193692 | Human | | name |
| 151748056 | CV1362460 | single nucleotide variant | NM_144499.3(GNAT1):c.1A>G (p.Met1Val) | not provided [RCV001968871] | uncertain significance | 3 | 50191726 | 50191726 | Human | | name |
| 151709088 | CV1507738 | single nucleotide variant | NM_144499.3(GNAT1):c.7G>A (p.Ala3Thr) | not provided [RCV002001578] | uncertain significance | 3 | 50191732 | 50191732 | Human | | name |
| 152130397 | CV1519683 | single nucleotide variant | NM_144499.3(GNAT1):c.42G>A (p.Glu14=) | not provided [RCV002155451] | likely benign | 3 | 50191767 | 50191767 | Human | | name |
| 152050785 | CV1527824 | deletion | NM_144499.3(GNAT1):c.449+23_449+30del | not provided [RCV002089131] | likely benign | 3 | 50193683 | 50193690 | Human | | name |
| 152038692 | CV1530573 | single nucleotide variant | NM_144499.3(GNAT1):c.33C>T (p.His11=) | not provided [RCV002087631] | likely benign | 3 | 50191758 | 50191758 | Human | | name |
| 152165442 | CV1536540 | microsatellite | NM_144499.3(GNAT1):c.449+16GCGCGGG[4] | not provided [RCV002160452] | likely benign | 3 | 50193678 | 50193679 | Human | | name |
| 152065246 | CV1539721 | deletion | NM_144499.3(GNAT1):c.449+14_449+29del | not provided [RCV002147327] | likely benign | 3 | 50193670 | 50193685 | Human | | name |
| 152088952 | CV1541469 | deletion | NM_144499.3(GNAT1):c.449+20_449+40del | not provided [RCV002171572] | likely benign | 3 | 50193679 | 50193699 | Human | | name |
| 152138400 | CV1565022 | single nucleotide variant | NM_144499.3(GNAT1):c.60A>G (p.Lys20=) | not provided [RCV002083828] | likely benign | 3 | 50191785 | 50191785 | Human | | name |
| 152087174 | CV1625815 | microsatellite | NM_144499.3(GNAT1):c.449+16GCGCGGG[2] | not provided [RCV002131572] | likely benign | 3 | 50193679 | 50193685 | Human | | name |
| 152075276 | CV1629301 | single nucleotide variant | NM_144499.3(GNAT1):c.45G>A (p.Leu15=) | GNAT1-related disorder [RCV003903478]|not provided [RCV002130131] | likely benign | 3 | 50191770 | 50191770 | Human | 1 | name , trait , alternate_id |
| 152054928 | CV1648636 | single nucleotide variant | NM_144499.3(GNAT1):c.99G>A (p.Leu33=) | not provided [RCV002072815] | likely benign | 3 | 50191824 | 50191824 | Human | | name |
| 156069514 | CV2065713 | single nucleotide variant | NM_144499.3(GNAT1):c.90G>T (p.Val30=) | not provided [RCV002847031] | uncertain significance | 3 | 50191815 | 50191815 | Human | | name |
| 156054831 | CV2137371 | deletion | NM_144499.3(GNAT1):c.449+10_449+20del | not provided [RCV002999996] | likely benign | 3 | 50193667 | 50193677 | Human | | name |
| 405082302 | CV2941946 | duplication | NM_144499.3(GNAT1):c.450-12_450-11dup | not provided [RCV003664705] | likely benign | 3 | 50193739 | 50193740 | Human | | name |
| 11594203 | CV295455 | single nucleotide variant | NM_144499.3(GNAT1):c.39G>A (p.Arg13=) | Congenital stationary night blindness autosomal dominant 3 [RCV000356635]|not provided [RCV001509945] | benign|likely benign|uncertain significance | 3 | 50191764 | 50191764 | Human | 1 | name |
| 405086914 | CV3047843 | deletion | NM_144499.3(GNAT1):c.449+14_449+22del | not provided [RCV003717536] | likely benign | 3 | 50193670 | 50193678 | Human | | name |
| 126757777 | CV1004855 | single nucleotide variant | NM_144499.3(GNAT1):c.16A>G (p.Ser6Gly) | not provided [RCV001317593] | uncertain significance | 3 | 50191741 | 50191741 | Human | | name |
| 127249173 | CV1092708 | single nucleotide variant | NM_144499.3(GNAT1):c.108T>A (p.Gly36=) | not provided [RCV001425061] | likely benign | 3 | 50193134 | 50193134 | Human | | name |
| 127327312 | CV1135119 | single nucleotide variant | NM_144499.3(GNAT1):c.174G>C (p.Ser58=) | not provided [RCV001506539] | likely benign | 3 | 50193289 | 50193289 | Human | | name |
| 127286874 | CV1135120 | single nucleotide variant | NM_144499.3(GNAT1):c.186C>T (p.Cys62=) | not provided [RCV001494603] | likely benign | 3 | 50193301 | 50193301 | Human | | name |
| 151856457 | CV1392390 | deletion | NM_144499.3(GNAT1):c.51del (p.Lys18fs) | not provided [RCV001883391] | pathogenic | 3 | 50191776 | 50191776 | Human | | name |
| 151807252 | CV1417660 | single nucleotide variant | NM_144499.3(GNAT1):c.10G>C (p.Gly4Arg) | not provided [RCV001867666] | uncertain significance | 3 | 50191735 | 50191735 | Human | | name |
| 152134659 | CV1638425 | single nucleotide variant | NM_144499.3(GNAT1):c.231C>T (p.Ile77=) | not provided [RCV002083340] | likely benign | 3 | 50193346 | 50193346 | Human | | name |
| 156449865 | CV1942138 | single nucleotide variant | NM_144499.3(GNAT1):c.168G>C (p.Gly56=) | not provided [RCV003121994] | likely benign | 3 | 50193283 | 50193283 | Human | | name |
| 156295438 | CV1995291 | single nucleotide variant | NM_144499.3(GNAT1):c.204C>T (p.Ile68=) | not provided [RCV002670933] | likely benign | 3 | 50193319 | 50193319 | Human | | name |
| 156118927 | CV2013510 | single nucleotide variant | NM_144499.3(GNAT1):c.201C>T (p.Ala67=) | not provided [RCV002740123] | likely benign | 3 | 50193316 | 50193316 | Human | | name |
| 156179970 | CV2020439 | single nucleotide variant | NM_144499.3(GNAT1):c.111C>T (p.Ala37=) | not provided [RCV002710750] | likely benign | 3 | 50193137 | 50193137 | Human | | name |
| 405174964 | CV2951746 | single nucleotide variant | NM_144499.3(GNAT1):c.120C>A (p.Ser40=) | not provided [RCV003675749] | likely benign | 3 | 50193146 | 50193146 | Human | | name |
| 11590229 | CV295646 | single nucleotide variant | NM_144499.3(GNAT1):c.117G>A (p.Glu39=) | Congenital stationary night blindness autosomal dominant 3 [RCV000317008]|not provided [RCV000956099] | benign|likely benign | 3 | 50193143 | 50193143 | Human | 1 | name |
| 11583192 | CV295648 | single nucleotide variant | NM_144499.3(GNAT1):c.294C>T (p.Asp98=) | Congenital stationary night blindness autosomal dominant 3 [RCV000264859]|GNAT1-related disorder [RCV003910369]|not provided [RCV001727698]|not specified [RCV001700072] | benign|likely benign | 3 | 50193508 | 50193508 | Human | 2 | name , trait , alternate_id |
| 405157593 | CV2956628 | single nucleotide variant | NM_144499.3(GNAT1):c.297C>T (p.Asp99=) | not provided [RCV003674454] | likely benign | 3 | 50193511 | 50193511 | Human | | name |
| 405207087 | CV2994483 | single nucleotide variant | NM_144499.3(GNAT1):c.222G>A (p.Leu74=) | not provided [RCV003678875] | likely benign | 3 | 50193337 | 50193337 | Human | | name |
| 28880025 | CV889392 | single nucleotide variant | NM_144499.3(GNAT1):c.165C>T (p.Asp55=) | Congenital stationary night blindness autosomal dominant 3 [RCV001149175]|not provided [RCV002070809] | likely benign|uncertain significance | 3 | 50193280 | 50193280 | Human | 1 | name |
| 126749174 | CV1025384 | single nucleotide variant | NM_144499.3(GNAT1):c.486C>G (p.Gly162=) | not provided [RCV001352002] | likely benign|uncertain significance | 3 | 50193789 | 50193789 | Human | | name |
| 126909716 | CV1042341 | single nucleotide variant | NM_144499.3(GNAT1):c.579G>T (p.Arg193=) | not provided [RCV001368604] | uncertain significance | 3 | 50194092 | 50194092 | Human | | name |
| 126918340 | CV1042344 | single nucleotide variant | NM_144499.3(GNAT1):c.861T>C (p.Asp287=) | not provided [RCV001361670] | likely benign|uncertain significance | 3 | 50194653 | 50194653 | Human | | name |
| 127275424 | CV1071078 | single nucleotide variant | NM_144499.3(GNAT1):c.354G>A (p.Glu118=) | not provided [RCV001406722] | likely benign | 3 | 50193568 | 50193568 | Human | | name |
| 127249014 | CV1071079 | single nucleotide variant | NM_144499.3(GNAT1):c.498C>G (p.Thr166=) | not provided [RCV001399517] | likely benign | 3 | 50193801 | 50193801 | Human | | name |
| 127256660 | CV1071080 | single nucleotide variant | NM_144499.3(GNAT1):c.696G>A (p.Glu232=) | not provided [RCV001419094] | likely benign | 3 | 50194209 | 50194209 | Human | | name |
| 127232076 | CV1071082 | single nucleotide variant | NM_144499.3(GNAT1):c.777C>T (p.Ser259=) | not provided [RCV001413306] | likely benign | 3 | 50194569 | 50194569 | Human | | name |
| 127251126 | CV1092709 | single nucleotide variant | NM_144499.3(GNAT1):c.459C>G (p.Ser153=) | not provided [RCV001436507] | likely benign | 3 | 50193762 | 50193762 | Human | | name |
| 127253151 | CV1092710 | single nucleotide variant | NM_144499.3(GNAT1):c.975G>A (p.Thr325=) | not provided [RCV001436956] | likely benign | 3 | 50194877 | 50194877 | Human | | name |
| 127307536 | CV1114229 | single nucleotide variant | NM_144499.3(GNAT1):c.618G>A (p.Lys206=) | not provided [RCV001463066] | likely benign | 3 | 50194131 | 50194131 | Human | | name |
| 127291220 | CV1114230 | single nucleotide variant | NM_144499.3(GNAT1):c.858C>T (p.Tyr286=) | not provided [RCV001451441] | likely benign | 3 | 50194650 | 50194650 | Human | | name |
| 127333732 | CV1135124 | single nucleotide variant | NM_144499.3(GNAT1):c.519G>T (p.Ser173=) | not provided [RCV001490353] | likely benign | 3 | 50193822 | 50193822 | Human | | name |
| 127302338 | CV1135126 | single nucleotide variant | NM_144499.3(GNAT1):c.612C>A (p.Arg204=) | not provided [RCV001499062] | likely benign | 3 | 50194125 | 50194125 | Human | | name |
| 127324251 | CV1135127 | single nucleotide variant | NM_144499.3(GNAT1):c.954C>T (p.His318=) | not provided [RCV001505629] | likely benign | 3 | 50194856 | 50194856 | Human | | name |
| 151810210 | CV1348439 | single nucleotide variant | NM_144499.3(GNAT1):c.88G>A (p.Val30Met) | not provided [RCV001878192] | uncertain significance | 3 | 50191813 | 50191813 | Human | | name |
| 151743944 | CV1427581 | single nucleotide variant | NM_144499.3(GNAT1):c.498C>A (p.Thr166=) | not provided [RCV001893557] | uncertain significance | 3 | 50193801 | 50193801 | Human | | name |
| 152037642 | CV1529632 | single nucleotide variant | NM_144499.3(GNAT1):c.420G>A (p.Ser140=) | not provided [RCV002187771] | likely benign | 3 | 50193634 | 50193634 | Human | | name |
| 152090510 | CV1563286 | single nucleotide variant | NM_144499.3(GNAT1):c.360G>C (p.Ser120=) | not provided [RCV002114014] | likely benign | 3 | 50193574 | 50193574 | Human | | name |
| 152125589 | CV1565611 | single nucleotide variant | NM_144499.3(GNAT1):c.837C>G (p.Leu279=) | not provided [RCV002136268] | likely benign | 3 | 50194629 | 50194629 | Human | | name |
| 152173719 | CV1567125 | single nucleotide variant | NM_144499.3(GNAT1):c.606G>A (p.Ser202=) | not provided [RCV002144205] | likely benign | 3 | 50194119 | 50194119 | Human | | name |
| 152092896 | CV1567874 | single nucleotide variant | NM_144499.3(GNAT1):c.330C>T (p.Ile110=) | not provided [RCV002212972] | likely benign | 3 | 50193544 | 50193544 | Human | | name |
| 152033290 | CV1568058 | single nucleotide variant | NM_144499.3(GNAT1):c.426C>T (p.Tyr142=) | not provided [RCV002205144] | likely benign | 3 | 50193640 | 50193640 | Human | | name |
| 152121754 | CV1613245 | single nucleotide variant | NM_144499.3(GNAT1):c.831G>T (p.Ala277=) | not provided [RCV002154351] | likely benign | 3 | 50194623 | 50194623 | Human | | name |
| 152122445 | CV1613392 | single nucleotide variant | NM_144499.3(GNAT1):c.573C>T (p.Asn191=) | not provided [RCV002154434] | likely benign | 3 | 50193876 | 50193876 | Human | | name |
| 152068077 | CV1620923 | single nucleotide variant | NM_144499.3(GNAT1):c.771G>T (p.Thr257=) | not provided [RCV002191421] | likely benign | 3 | 50194563 | 50194563 | Human | | name |
| 152146492 | CV1635502 | single nucleotide variant | NM_144499.3(GNAT1):c.759C>T (p.Arg253=) | not provided [RCV002201316] | likely benign | 3 | 50194551 | 50194551 | Human | | name |
| 152065000 | CV1654414 | single nucleotide variant | NM_144499.3(GNAT1):c.774G>A (p.Thr258=) | not provided [RCV002191033] | likely benign | 3 | 50194566 | 50194566 | Human | | name |
| 152138364 | CV1657821 | single nucleotide variant | NM_144499.3(GNAT1):c.726C>T (p.Ser242=) | not provided [RCV002177720] | likely benign | 3 | 50194518 | 50194518 | Human | | name |
| 152077835 | CV1665942 | single nucleotide variant | NM_144499.3(GNAT1):c.534T>C (p.Thr178=) | not provided [RCV002092463] | likely benign | 3 | 50193837 | 50193837 | Human | | name |
| 156152056 | CV1961088 | single nucleotide variant | NM_144499.3(GNAT1):c.840C>T (p.Ser280=) | not provided [RCV002572930] | likely benign | 3 | 50194632 | 50194632 | Human | | name |
| 156068476 | CV1971950 | single nucleotide variant | NM_144499.3(GNAT1):c.477A>G (p.Val159=) | not provided [RCV002621172] | likely benign | 3 | 50193780 | 50193780 | Human | | name |
| 156324163 | CV1975435 | single nucleotide variant | NM_144499.3(GNAT1):c.798G>A (p.Lys266=) | not provided [RCV002630547] | likely benign | 3 | 50194590 | 50194590 | Human | | name |
| 156247873 | CV1988967 | single nucleotide variant | NM_144499.3(GNAT1):c.999C>T (p.Asp333=) | not provided [RCV002627353] | likely benign | 3 | 50194901 | 50194901 | Human | | name |
| 156348019 | CV1989230 | single nucleotide variant | NM_144499.3(GNAT1):c.402C>T (p.Ala134=) | not provided [RCV002631781] | likely benign | 3 | 50193616 | 50193616 | Human | | name |
| 156104850 | CV2001918 | single nucleotide variant | NM_144499.3(GNAT1):c.597G>C (p.Gly199=) | not provided [RCV002639716] | likely benign | 3 | 50194110 | 50194110 | Human | | name |
| 156400212 | CV2013258 | single nucleotide variant | NM_144499.3(GNAT1):c.828G>A (p.Lys276=) | not provided [RCV002725932] | likely benign | 3 | 50194620 | 50194620 | Human | | name |
| 156093859 | CV2014239 | single nucleotide variant | NM_144499.3(GNAT1):c.885C>T (p.Ala295=) | not provided [RCV002695042] | likely benign | 3 | 50194787 | 50194787 | Human | | name |
| 155989659 | CV2026876 | single nucleotide variant | NM_144499.3(GNAT1):c.930C>T (p.Arg310=) | not provided [RCV002755694] | likely benign | 3 | 50194832 | 50194832 | Human | | name |
| 155945549 | CV2039598 | single nucleotide variant | NM_144499.3(GNAT1):c.519G>C (p.Ser173=) | not provided [RCV002775457] | likely benign | 3 | 50193822 | 50193822 | Human | | name |
| 156316254 | CV2071040 | single nucleotide variant | NM_144499.3(GNAT1):c.639C>T (p.Gly213=) | not provided [RCV002834418] | likely benign | 3 | 50194152 | 50194152 | Human | | name |
| 156133038 | CV2085044 | single nucleotide variant | NM_144499.3(GNAT1):c.447C>G (p.Gly149=) | not provided [RCV002871706] | uncertain significance | 3 | 50193661 | 50193661 | Human | | name |
| 156189301 | CV2086682 | single nucleotide variant | NM_144499.3(GNAT1):c.699C>T (p.Asp233=) | not provided [RCV002852086] | likely benign | 3 | 50194212 | 50194212 | Human | | name |
| 156376228 | CV2191111 | single nucleotide variant | NM_144499.3(GNAT1):c.58A>G (p.Lys20Glu) | not provided [RCV003050124] | uncertain significance | 3 | 50191783 | 50191783 | Human | | name |
| 405212982 | CV2878776 | single nucleotide variant | NM_144499.3(GNAT1):c.495C>T (p.Pro165=) | not provided [RCV003552833] | likely benign | 3 | 50193798 | 50193798 | Human | | name |
| 11590786 | CV291123 | single nucleotide variant | NM_144499.3(GNAT1):c.675C>T (p.Ala225=) | Congenital stationary night blindness autosomal dominant 3 [RCV000322340]|Congenital stationary night blindness autosomal dominant 3 [RCV002488756]|not provided [RCV001522720] | benign|likely benign | 3 | 50194188 | 50194188 | Human | 1 | name |
| 11586979 | CV291124 | single nucleotide variant | NM_144499.3(GNAT1):c.876C>T (p.Tyr292=) | Congenital stationary night blindness autosomal dominant 3 [RCV000291713]|GNAT1-related disorder [RCV003950219]|not provided [RCV000886564]|not specified [RCV001699331] | benign|likely benign | 3 | 50194778 | 50194778 | Human | 2 | name , trait , alternate_id |
| 405083319 | CV2946363 | single nucleotide variant | NM_144499.3(GNAT1):c.516C>T (p.Arg172=) | not provided [RCV003664776] | likely benign | 3 | 50193819 | 50193819 | Human | | name |
| 405121035 | CV2952413 | single nucleotide variant | NM_144499.3(GNAT1):c.390C>T (p.Ser130=) | not provided [RCV003671475] | likely benign | 3 | 50193604 | 50193604 | Human | | name |
| 11591089 | CV295472 | single nucleotide variant | NM_144499.3(GNAT1):c.882C>T (p.Asp294=) | Congenital stationary night blindness autosomal dominant 3 [RCV000325576]|GNAT1-related disorder [RCV003969997]|not provided [RCV002057889] | likely benign|uncertain significance | 3 | 50194784 | 50194784 | Human | 2 | name , trait , alternate_id |
| 405118609 | CV2955878 | single nucleotide variant | NM_144499.3(GNAT1):c.984C>G (p.Val328=) | not provided [RCV003671220] | likely benign | 3 | 50194886 | 50194886 | Human | | name |
| 11587990 | CV295638 | single nucleotide variant | NM_144499.3(GNAT1):c.38G>A (p.Arg13Lys) | Congenital stationary night blindness autosomal dominant 3 [RCV000299430]|not provided [RCV001412336] | benign|likely benign|uncertain significance | 3 | 50191763 | 50191763 | Human | 1 | name |
| 11582391 | CV295642 | single nucleotide variant | NM_144499.3(GNAT1):c.83G>A (p.Arg28Gln) | Congenital stationary night blindness autosomal dominant 3 [RCV000259457]|not provided [RCV001437241] | benign|likely benign|conflicting interpretations of pathogenicity | 3 | 50191808 | 50191808 | Human | 1 | name |
| 11587451 | CV295649 | single nucleotide variant | NM_144499.3(GNAT1):c.939G>A (p.Lys313=) | Congenital stationary night blindness autosomal dominant 3 [RCV000295127]|GNAT1-related disorder [RCV003902332]|not provided [RCV001517802] | benign|likely benign | 3 | 50194841 | 50194841 | Human | 2 | name , trait , alternate_id |
| 402485430 | CV3033824 | single nucleotide variant | NM_144499.3(GNAT1):c.83G>T (p.Arg28Leu) | not provided [RCV003713247] | uncertain significance | 3 | 50191808 | 50191808 | Human | | name |
| 404982647 | CV3121519 | single nucleotide variant | NM_144499.3(GNAT1):c.441G>C (p.Ser147=) | not provided [RCV003826318] | likely benign | 3 | 50193655 | 50193655 | Human | | name |
| 402500249 | CV3170499 | single nucleotide variant | NM_144499.3(GNAT1):c.67G>A (p.Ala23Thr) | not provided [RCV003877871] | uncertain significance | 3 | 50191792 | 50191792 | Human | | name |
| 596942293 | CV3408440 | single nucleotide variant | NM_144499.3(GNAT1):c.474G>A (p.Leu158=) | Retinal dystrophy [RCV004816111] | uncertain significance | 3 | 50193777 | 50193777 | Human | 2 | name |
| 408393343 | CV3526106 | single nucleotide variant | NM_144499.3(GNAT1):c.98T>C (p.Leu33Pro) | Congenital stationary night blindness 1C [RCV004768482] | likely pathogenic | 3 | 50191823 | 50191823 | Human | 1 | name |
| 597920044 | CV3738032 | single nucleotide variant | NM_144499.3(GNAT1):c.360G>A (p.Ser120=) | not provided [RCV005074631] | likely benign | 3 | 50193574 | 50193574 | Human | | name |
| 597944377 | CV3776579 | single nucleotide variant | NM_144499.3(GNAT1):c.912C>A (p.Leu304=) | not provided [RCV005119435] | likely benign | 3 | 50194814 | 50194814 | Human | | name |
| 597877592 | CV3860284 | single nucleotide variant | NM_144499.3(GNAT1):c.651C>T (p.Ile217=) | not provided [RCV005198493] | likely benign | 3 | 50194164 | 50194164 | Human | | name |
| 13706313 | CV537426 | single nucleotide variant | NM_144499.3(GNAT1):c.82C>T (p.Arg28Ter) | not provided [RCV000658963] | likely pathogenic | 3 | 50191807 | 50191807 | Human | | name |
| 15103471 | CV748383 | single nucleotide variant | NM_144499.3(GNAT1):c.762C>T (p.Tyr254=) | not provided [RCV000915168] | likely benign | 3 | 50194554 | 50194554 | Human | | name |
| 26910613 | CV856305 | deletion | NM_144499.3(GNAT1):c.282del (p.Ala95fs) | Retinal dystrophy [RCV001075209]|not provided [RCV005056861] | pathogenic|likely pathogenic | 3 | 50193397 | 50193397 | Human | 2 | name |
| 28884883 | CV889393 | single nucleotide variant | NM_144499.3(GNAT1):c.411G>A (p.Glu137=) | Congenital stationary night blindness autosomal dominant 3 [RCV001150685]|GNAT1-related disorder [RCV003918739]|not provided [RCV001511057] | benign|likely benign | 3 | 50193625 | 50193625 | Human | 2 | name , trait , alternate_id |
| 126738055 | CV1004856 | single nucleotide variant | NM_144499.3(GNAT1):c.231C>G (p.Ile77Met) | Retinal dystrophy [RCV004815339]|not provided [RCV001314060] | uncertain significance | 3 | 50193346 | 50193346 | Human | 2 | name |
| 126919448 | CV1042339 | single nucleotide variant | NM_144499.3(GNAT1):c.211G>T (p.Gly71Cys) | Retinal dystrophy [RCV004815488]|not provided [RCV001373234] | uncertain significance | 3 | 50193326 | 50193326 | Human | 2 | name |
| 127266185 | CV1059861 | single nucleotide variant | NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter) | Congenital stationary night blindness autosomal dominant 3 [RCV002476734]|not provided [RCV001388651] | pathogenic|likely pathogenic | 3 | 50193388 | 50193388 | Human | 1 | name |
| 127249030 | CV1071084 | single nucleotide variant | NM_144499.3(GNAT1):c.1041T>C (p.Cys347=) | not provided [RCV001399519] | likely benign | 3 | 50194943 | 50194943 | Human | | name |
| 151725645 | CV1364926 | single nucleotide variant | NM_144499.3(GNAT1):c.247G>A (p.Ala83Thr) | not provided [RCV002040640] | uncertain significance | 3 | 50193362 | 50193362 | Human | | name |
| 151782254 | CV1439368 | single nucleotide variant | NM_144499.3(GNAT1):c.263A>G (p.Asn88Ser) | not provided [RCV002009853] | uncertain significance | 3 | 50193378 | 50193378 | Human | | name |
| 151770292 | CV1464888 | single nucleotide variant | NM_144499.3(GNAT1):c.101T>A (p.Leu34His) | not provided [RCV002025294] | uncertain significance | 3 | 50191826 | 50191826 | Human | | name |
| 151830040 | CV1466020 | single nucleotide variant | NM_144499.3(GNAT1):c.236C>G (p.Ala79Gly) | Inborn genetic diseases [RCV003355558]|not provided [RCV002050635] | uncertain significance | 3 | 50193351 | 50193351 | Human | 1 | name |
| 151726328 | CV1482259 | single nucleotide variant | NM_144499.3(GNAT1):c.136G>A (p.Val46Ile) | not provided [RCV002020824] | uncertain significance | 3 | 50193162 | 50193162 | Human | | name |
| 151730805 | CV1489586 | single nucleotide variant | NM_144499.3(GNAT1):c.142C>G (p.Gln48Glu) | Inborn genetic diseases [RCV004988861]|not provided [RCV001910851] | uncertain significance | 3 | 50193168 | 50193168 | Human | 1 | name |
| 151876526 | CV1508123 | single nucleotide variant | NM_144499.3(GNAT1):c.229A>T (p.Ile77Phe) | not provided [RCV001961109] | uncertain significance | 3 | 50193344 | 50193344 | Human | | name |
| 155695717 | CV1777041 | single nucleotide variant | NM_144499.3(GNAT1):c.131C>G (p.Thr44Ser) | not provided [RCV002295206] | uncertain significance | 3 | 50193157 | 50193157 | Human | | name |
| 155936799 | CV2074938 | single nucleotide variant | NM_144499.3(GNAT1):c.209A>C (p.Tyr70Ser) | not provided [RCV002861498] | uncertain significance | 3 | 50193324 | 50193324 | Human | | name |
| 156284344 | CV2172131 | single nucleotide variant | NM_144499.3(GNAT1):c.176T>C (p.Leu59Pro) | not provided [RCV003027430] | uncertain significance | 3 | 50193291 | 50193291 | Human | | name |
| 156137445 | CV2177641 | single nucleotide variant | NM_144499.3(GNAT1):c.210C>G (p.Tyr70Ter) | not provided [RCV003039918] | pathogenic | 3 | 50193325 | 50193325 | Human | | name |
| 11594695 | CV295471 | single nucleotide variant | NM_144499.3(GNAT1):c.241G>A (p.Val81Ile) | Congenital stationary night blindness autosomal dominant 3 [RCV000361876]|Inborn genetic diseases [RCV002520163]|not provided [RCV001498016] | benign|likely benign|uncertain significance | 3 | 50193356 | 50193356 | Human | 2 | name |
| 8600035 | CV30965 | single nucleotide variant | NM_144499.3(GNAT1):c.113G>A (p.Gly38Asp) | Congenital stationary night blindness autosomal dominant 3 [RCV000017277] | pathogenic | 3 | 50193139 | 50193139 | Human | 1 | name |
| 405188512 | CV3121250 | single nucleotide variant | NM_144499.3(GNAT1):c.171C>G (p.Tyr57Ter) | not provided [RCV003820706] | pathogenic | 3 | 50193286 | 50193286 | Human | | name |
| 596944828 | CV3409052 | single nucleotide variant | NM_144499.3(GNAT1):c.121G>A (p.Gly41Arg) | Retinal dystrophy [RCV004817705] | uncertain significance | 3 | 50193147 | 50193147 | Human | 2 | name |
| 408394064 | CV3526172 | single nucleotide variant | NM_144499.3(GNAT1):c.124A>G (p.Lys42Glu) | Congenital stationary night blindness 1C [RCV004771604] | likely pathogenic | 3 | 50193150 | 50193150 | Human | 1 | name |
| 597940007 | CV3785256 | single nucleotide variant | NM_144499.3(GNAT1):c.184T>C (p.Cys62Arg) | not provided [RCV005133361] | uncertain significance | 3 | 50193299 | 50193299 | Human | | name |
| 597898982 | CV3799763 | single nucleotide variant | NM_144499.3(GNAT1):c.110C>T (p.Ala37Val) | not provided [RCV005152414] | uncertain significance | 3 | 50193136 | 50193136 | Human | | name |
| 14698531 | CV623962 | single nucleotide variant | NM_144499.3(GNAT1):c.107G>A (p.Gly36Asp) | Retinitis pigmentosa [RCV000787836]|not provided [RCV001370367] | uncertain significance | 3 | 50193133 | 50193133 | Human | 2 | name |
| 38460966 | CV918844 | single nucleotide variant | NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe) | Congenital stationary night blindness 1G [RCV001197099] | uncertain significance | 3 | 50193374 | 50193374 | Human | 1 | name |
| 38484754 | CV923272 | single nucleotide variant | NM_144499.3(GNAT1):c.278A>G (p.Asp93Gly) | not provided [RCV001219562] | uncertain significance | 3 | 50193393 | 50193393 | Human | | name |
| 38487526 | CV932023 | single nucleotide variant | NM_144499.3(GNAT1):c.218C>T (p.Thr73Met) | not provided [RCV001209348] | uncertain significance | 3 | 50193333 | 50193333 | Human | | name |
| 38499391 | CV953545 | single nucleotide variant | NM_144499.3(GNAT1):c.272A>G (p.Tyr91Cys) | not provided [RCV001244594] | uncertain significance | 3 | 50193387 | 50193387 | Human | | name |
| 126751929 | CV989674 | single nucleotide variant | NM_144499.3(GNAT1):c.117G>T (p.Glu39Asp) | not provided [RCV001307134] | uncertain significance | 3 | 50193143 | 50193143 | Human | | name |
| 126740311 | CV989675 | single nucleotide variant | NM_144499.3(GNAT1):c.163G>T (p.Asp55Tyr) | not provided [RCV001305259] | uncertain significance | 3 | 50193278 | 50193278 | Human | | name |
| 126751095 | CV1004857 | single nucleotide variant | NM_144499.3(GNAT1):c.310A>G (p.Met104Val) | not provided [RCV001316043] | uncertain significance | 3 | 50193524 | 50193524 | Human | | name |
| 126742401 | CV1004858 | single nucleotide variant | NM_144499.3(GNAT1):c.543C>G (p.Ile181Met) | not provided [RCV001314657] | uncertain significance | 3 | 50193846 | 50193846 | Human | | name |
| 126768244 | CV1004859 | single nucleotide variant | NM_144499.3(GNAT1):c.610C>G (p.Arg204Gly) | Inborn genetic diseases [RCV003246877]|not provided [RCV001321257] | uncertain significance | 3 | 50194123 | 50194123 | Human | 1 | name |
| 126745375 | CV1004860 | single nucleotide variant | NM_144499.3(GNAT1):c.784C>T (p.Leu262Phe) | not provided [RCV001315070] | uncertain significance | 3 | 50194576 | 50194576 | Human | | name |
| 8643377 | CV102360 | microsatellite | NM_144499.3(GNAT1):c.22GAG[1] (p.Glu9del) | not provided [RCV000082616] | uncertain significance | 3 | 50191747 | 50191749 | Human | | name |
| 126774537 | CV1025383 | single nucleotide variant | NM_144499.3(GNAT1):c.442G>T (p.Ala148Ser) | Inborn genetic diseases [RCV002547075]|not provided [RCV001347341] | uncertain significance | 3 | 50193656 | 50193656 | Human | 1 | name |
| 126743783 | CV1025385 | single nucleotide variant | NM_144499.3(GNAT1):c.808T>C (p.Phe270Leu) | Inborn genetic diseases [RCV002547518]|not provided [RCV001351190] | uncertain significance | 3 | 50194600 | 50194600 | Human | 1 | name |
| 126914878 | CV1042340 | single nucleotide variant | NM_144499.3(GNAT1):c.512T>A (p.Leu171Gln) | not provided [RCV001359694] | uncertain significance | 3 | 50193815 | 50193815 | Human | | name |
| 126922370 | CV1042342 | single nucleotide variant | NM_144499.3(GNAT1):c.653T>C (p.Ile218Thr) | not provided [RCV001364595] | uncertain significance | 3 | 50194166 | 50194166 | Human | | name |
| 126915257 | CV1042343 | single nucleotide variant | NM_144499.3(GNAT1):c.674C>T (p.Ala225Val) | not provided [RCV001359881] | uncertain significance | 3 | 50194187 | 50194187 | Human | | name |
| 126913604 | CV1042345 | duplication | NM_144499.3(GNAT1):c.1014dup (p.Ile339fs) | not provided [RCV001359238] | uncertain significance | 3 | 50194915 | 50194916 | Human | | name |
| 150438834 | CV1286952 | single nucleotide variant | NM_144499.3(GNAT1):c.508G>T (p.Val170Leu) | Retinitis pigmentosa [RCV001724867] | uncertain significance | 3 | 50193811 | 50193811 | Human | 2 | name |
| 150516590 | CV1287435 | single nucleotide variant | NM_144499.3(GNAT1):c.379T>C (p.Trp127Arg) | not provided [RCV001723414] | uncertain significance | 3 | 50193593 | 50193593 | Human | | name |
| 150552256 | CV1301196 | single nucleotide variant | NM_144499.3(GNAT1):c.703G>A (p.Glu235Lys) | not provided [RCV001767606] | uncertain significance | 3 | 50194216 | 50194216 | Human | | name |
| 151841875 | CV1362983 | single nucleotide variant | NM_144499.3(GNAT1):c.854A>G (p.Asp285Gly) | not provided [RCV002015433] | uncertain significance | 3 | 50194646 | 50194646 | Human | | name |
| 151717617 | CV1380519 | single nucleotide variant | NM_144499.3(GNAT1):c.638G>T (p.Gly213Val) | not provided [RCV002003157] | uncertain significance | 3 | 50194151 | 50194151 | Human | | name |
| 151881356 | CV1395822 | single nucleotide variant | NM_144499.3(GNAT1):c.574T>C (p.Phe192Leu) | Inborn genetic diseases [RCV005350889]|not provided [RCV002036932] | uncertain significance | 3 | 50193877 | 50193877 | Human | 1 | name |
| 151722617 | CV1406672 | single nucleotide variant | NM_144499.3(GNAT1):c.716T>C (p.Met239Thr) | not provided [RCV002003884] | uncertain significance | 3 | 50194508 | 50194508 | Human | | name |
| 151774106 | CV1413368 | single nucleotide variant | NM_144499.3(GNAT1):c.373C>T (p.Arg125Trp) | Inborn genetic diseases [RCV002573468]|not provided [RCV001971465] | uncertain significance | 3 | 50193587 | 50193587 | Human | 1 | name |
| 151842668 | CV1418300 | single nucleotide variant | NM_144499.3(GNAT1):c.825G>T (p.Lys275Asn) | not provided [RCV001903038] | uncertain significance | 3 | 50194617 | 50194617 | Human | | name |
| 151793534 | CV1420457 | single nucleotide variant | NM_144499.3(GNAT1):c.481C>A (p.Pro161Thr) | not provided [RCV002027438] | uncertain significance | 3 | 50193784 | 50193784 | Human | | name |
| 151884203 | CV1428574 | single nucleotide variant | NM_144499.3(GNAT1):c.607G>T (p.Glu203Ter) | not provided [RCV002000220] | pathogenic | 3 | 50194120 | 50194120 | Human | | name |
| 151781794 | CV1446414 | single nucleotide variant | NM_144499.3(GNAT1):c.412C>G (p.Arg138Gly) | not provided [RCV001989206] | uncertain significance | 3 | 50193626 | 50193626 | Human | | name |
| 151851004 | CV1465058 | single nucleotide variant | NM_144499.3(GNAT1):c.460G>A (p.Asp154Asn) | not provided [RCV001995962] | uncertain significance | 3 | 50193763 | 50193763 | Human | | name |
| 151816363 | CV1482489 | single nucleotide variant | NM_144499.3(GNAT1):c.508G>A (p.Val170Met) | not provided [RCV002049351] | uncertain significance | 3 | 50193811 | 50193811 | Human | | name |
| 151861133 | CV1483130 | single nucleotide variant | NM_144499.3(GNAT1):c.499G>T (p.Glu167Ter) | not provided [RCV001883932] | pathogenic | 3 | 50193802 | 50193802 | Human | | name |
| 151722769 | CV1498189 | single nucleotide variant | NM_144499.3(GNAT1):c.758G>A (p.Arg253His) | not provided [RCV001983314] | uncertain significance | 3 | 50194550 | 50194550 | Human | | name |
| 151758592 | CV1510783 | single nucleotide variant | NM_144499.3(GNAT1):c.388T>G (p.Ser130Ala) | not provided [RCV001948880] | uncertain significance | 3 | 50193602 | 50193602 | Human | | name |
| 153349702 | CV1693849 | single nucleotide variant | NM_144499.3(GNAT1):c.515G>C (p.Arg172Pro) | not provided [RCV002276119] | uncertain significance | 3 | 50193818 | 50193818 | Human | | name |
| 155645111 | CV1710591 | single nucleotide variant | NM_144499.3(GNAT1):c.490G>A (p.Val164Met) | not provided [RCV002293887] | uncertain significance | 3 | 50193793 | 50193793 | Human | | name |
| 155672960 | CV1774070 | single nucleotide variant | NM_144499.3(GNAT1):c.539T>A (p.Ile180Asn) | not provided [RCV002297625] | uncertain significance | 3 | 50193842 | 50193842 | Human | | name |
| 155720493 | CV1775631 | single nucleotide variant | NM_144499.3(GNAT1):c.640G>A (p.Val214Met) | not provided [RCV002301270] | uncertain significance | 3 | 50194153 | 50194153 | Human | | name |
| 155681475 | CV1776717 | single nucleotide variant | NM_144499.3(GNAT1):c.469C>A (p.Arg157Ser) | not provided [RCV002298262] | uncertain significance | 3 | 50193772 | 50193772 | Human | | name |
| 155747070 | CV1778225 | single nucleotide variant | NM_144499.3(GNAT1):c.866C>T (p.Pro289Leu) | not provided [RCV002303578] | uncertain significance | 3 | 50194768 | 50194768 | Human | | name |
| 10045039 | CV188775 | single nucleotide variant | NM_144499.3(GNAT1):c.598C>G (p.Gln200Glu) | Congenital stationary night blindness autosomal dominant 3 [RCV000171140] | pathogenic | 3 | 50194111 | 50194111 | Human | 1 | name |
| 10045040 | CV188776 | single nucleotide variant | NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly) | Congenital stationary night blindness 1G [RCV000171141] | pathogenic | 3 | 50193600 | 50193600 | Human | 1 | name |
| 156094012 | CV1960197 | single nucleotide variant | NM_144499.3(GNAT1):c.753C>A (p.Asn251Lys) | Retinal dystrophy [RCV004817045]|not provided [RCV002570326] | uncertain significance | 3 | 50194545 | 50194545 | Human | 2 | name |
| 156393980 | CV1962573 | single nucleotide variant | NM_144499.3(GNAT1):c.578G>A (p.Arg193Gln) | not provided [RCV002584165] | uncertain significance | 3 | 50193881 | 50193881 | Human | | name |
| 156417631 | CV1967078 | single nucleotide variant | NM_144499.3(GNAT1):c.548C>T (p.Thr183Met) | not provided [RCV002590289] | uncertain significance | 3 | 50193851 | 50193851 | Human | | name |
| 156411459 | CV1977269 | single nucleotide variant | NM_144499.3(GNAT1):c.377T>C (p.Leu126Pro) | not provided [RCV002608258] | uncertain significance | 3 | 50193591 | 50193591 | Human | | name |
| 156110030 | CV1988677 | single nucleotide variant | NM_144499.3(GNAT1):c.401C>T (p.Ala134Val) | not provided [RCV002622539] | uncertain significance | 3 | 50193615 | 50193615 | Human | | name |
| 156346671 | CV1989139 | single nucleotide variant | NM_144499.3(GNAT1):c.320C>T (p.Ala107Val) | not provided [RCV002631714] | uncertain significance | 3 | 50193534 | 50193534 | Human | | name |
| 156009792 | CV1991641 | single nucleotide variant | NM_144499.3(GNAT1):c.977A>C (p.Gln326Pro) | not provided [RCV002618845] | uncertain significance | 3 | 50194879 | 50194879 | Human | | name |
| 156123258 | CV1995023 | single nucleotide variant | NM_144499.3(GNAT1):c.482C>T (p.Pro161Leu) | not provided [RCV002662937] | uncertain significance | 3 | 50193785 | 50193785 | Human | | name |
| 156384563 | CV2001654 | single nucleotide variant | NM_144499.3(GNAT1):c.718C>T (p.His240Tyr) | not provided [RCV002653898] | uncertain significance | 3 | 50194510 | 50194510 | Human | | name |
| 156077641 | CV2011862 | single nucleotide variant | NM_144499.3(GNAT1):c.623T>A (p.Ile208Asn) | not provided [RCV002705884] | uncertain significance | 3 | 50194136 | 50194136 | Human | | name |
| 156146447 | CV2052751 | single nucleotide variant | NM_144499.3(GNAT1):c.727C>A (p.Leu243Met) | not provided [RCV002801145] | uncertain significance | 3 | 50194519 | 50194519 | Human | | name |
| 156173503 | CV2053470 | single nucleotide variant | NM_144499.3(GNAT1):c.503A>G (p.Gln168Arg) | not provided [RCV002802021] | uncertain significance | 3 | 50193806 | 50193806 | Human | | name |
| 156138947 | CV2129322 | single nucleotide variant | NM_144499.3(GNAT1):c.877G>C (p.Glu293Gln) | not provided [RCV002954156] | uncertain significance | 3 | 50194779 | 50194779 | Human | | name |
| 156215287 | CV2135908 | single nucleotide variant | NM_144499.3(GNAT1):c.443C>T (p.Ala148Val) | not provided [RCV003007155] | uncertain significance | 3 | 50193657 | 50193657 | Human | | name |
| 156072921 | CV2141548 | single nucleotide variant | NM_144499.3(GNAT1):c.443C>A (p.Ala148Glu) | not provided [RCV002978997] | uncertain significance | 3 | 50193657 | 50193657 | Human | | name |
| 155974104 | CV2154738 | single nucleotide variant | NM_144499.3(GNAT1):c.638G>A (p.Gly213Asp) | not provided [RCV003033568] | uncertain significance | 3 | 50194151 | 50194151 | Human | | name |
| 156112319 | CV2171766 | single nucleotide variant | NM_144499.3(GNAT1):c.428A>C (p.Gln143Pro) | not provided [RCV003038995] | uncertain significance | 3 | 50193642 | 50193642 | Human | | name |
| 156123850 | CV2179725 | single nucleotide variant | NM_144499.3(GNAT1):c.757C>T (p.Arg253Cys) | not provided [RCV003039425] | uncertain significance | 3 | 50194549 | 50194549 | Human | | name |
| 155930869 | CV2220927 | single nucleotide variant | NM_144499.3(GNAT1):c.732C>A (p.His244Gln) | Inborn genetic diseases [RCV002728740] | uncertain significance | 3 | 50194524 | 50194524 | Human | 1 | name |
| 156140545 | CV2247085 | single nucleotide variant | NM_144499.3(GNAT1):c.850C>T (p.Pro284Ser) | Inborn genetic diseases [RCV002763502] | uncertain significance | 3 | 50194642 | 50194642 | Human | 1 | name |
| 156076715 | CV2251378 | single nucleotide variant | NM_144499.3(GNAT1):c.830C>G (p.Ala277Gly) | Inborn genetic diseases [RCV002797708] | uncertain significance | 3 | 50194622 | 50194622 | Human | 1 | name |
| 156246223 | CV2263710 | single nucleotide variant | NM_144499.3(GNAT1):c.811T>C (p.Phe271Leu) | Inborn genetic diseases [RCV002830835] | uncertain significance | 3 | 50194603 | 50194603 | Human | 1 | name |
| 156153003 | CV2307680 | single nucleotide variant | NM_144499.3(GNAT1):c.731A>C (p.His244Pro) | Inborn genetic diseases [RCV002915495] | uncertain significance | 3 | 50194523 | 50194523 | Human | 1 | name |
| 401782660 | CV2719925 | single nucleotide variant | NM_144499.3(GNAT1):c.702C>A (p.Asp234Glu) | Inborn genetic diseases [RCV003309106] | uncertain significance | 3 | 50194215 | 50194215 | Human | 1 | name |
| 401880213 | CV2783133 | single nucleotide variant | NM_144499.3(GNAT1):c.998A>T (p.Asp333Val) | Inborn genetic diseases [RCV003384923] | uncertain significance | 3 | 50194900 | 50194900 | Human | 1 | name |
| 401880218 | CV2783134 | single nucleotide variant | NM_144499.3(GNAT1):c.999C>A (p.Asp333Glu) | Inborn genetic diseases [RCV003384924] | uncertain significance | 3 | 50194901 | 50194901 | Human | 1 | name |
| 401896844 | CV2788865 | single nucleotide variant | NM_144499.3(GNAT1):c.835C>T (p.Leu279Phe) | Inborn genetic diseases [RCV003374485] | uncertain significance | 3 | 50194627 | 50194627 | Human | 1 | name |
| 402515339 | CV2855703 | single nucleotide variant | NM_144499.3(GNAT1):c.328A>G (p.Ile110Val) | not provided [RCV003547355] | uncertain significance | 3 | 50193542 | 50193542 | Human | | name |
| 402517665 | CV2856937 | single nucleotide variant | NM_144499.3(GNAT1):c.565G>C (p.Asp189His) | Retinal dystrophy [RCV004818365]|not provided [RCV003575615] | uncertain significance | 3 | 50193868 | 50193868 | Human | 2 | name |
| 405048510 | CV2886767 | single nucleotide variant | NM_144499.3(GNAT1):c.507C>G (p.Asp169Glu) | Inborn genetic diseases [RCV004985415]|not provided [RCV003579622] | uncertain significance | 3 | 50193810 | 50193810 | Human | 1 | name |
| 405112451 | CV2900480 | single nucleotide variant | NM_144499.3(GNAT1):c.505G>A (p.Asp169Asn) | not provided [RCV003558069] | uncertain significance | 3 | 50193808 | 50193808 | Human | | name |
| 11596460 | CV291125 | single nucleotide variant | NM_144499.3(GNAT1):c.926G>C (p.Arg309Pro) | Congenital stationary night blindness autosomal dominant 3 [RCV000382489]|not provided [RCV001850834] | uncertain significance | 3 | 50194828 | 50194828 | Human | 1 | name |
| 11662235 | CV292094 | single nucleotide variant | NM_144499.3(GNAT1):c.830C>T (p.Ala277Val) | Congenital stationary night blindness autosomal dominant 3 [RCV000383999]|GNAT1-related disorder [RCV003983026] | uncertain significance | 3 | 50194622 | 50194622 | Human | 2 | name , trait , alternate_id |
| 405191087 | CV2928046 | single nucleotide variant | NM_144499.3(GNAT1):c.742A>G (p.Ser248Gly) | not provided [RCV003564908] | uncertain significance | 3 | 50194534 | 50194534 | Human | | name |
| 405084203 | CV2941951 | single nucleotide variant | NM_144499.3(GNAT1):c.578G>C (p.Arg193Pro) | not provided [RCV003664708] | uncertain significance | 3 | 50193881 | 50193881 | Human | | name |
| 402506877 | CV2947820 | single nucleotide variant | NM_144499.3(GNAT1):c.589G>A (p.Val197Met) | not provided [RCV003662149] | uncertain significance | 3 | 50194102 | 50194102 | Human | | name |
| 405185534 | CV2963897 | single nucleotide variant | NM_144499.3(GNAT1):c.865C>T (p.Pro289Ser) | not provided [RCV003676713] | uncertain significance | 3 | 50194767 | 50194767 | Human | | name |
| 405244682 | CV2968349 | single nucleotide variant | NM_144499.3(GNAT1):c.469C>T (p.Arg157Cys) | not provided [RCV003684918] | uncertain significance | 3 | 50193772 | 50193772 | Human | | name |
| 405242331 | CV2970903 | single nucleotide variant | NM_144499.3(GNAT1):c.647G>A (p.Cys216Tyr) | not provided [RCV003684213] | uncertain significance | 3 | 50194160 | 50194160 | Human | | name |
| 405233822 | CV2975528 | single nucleotide variant | NM_144499.3(GNAT1):c.748T>G (p.Cys250Gly) | not provided [RCV003682699] | uncertain significance | 3 | 50194540 | 50194540 | Human | | name |
| 405040084 | CV3013635 | single nucleotide variant | NM_144499.3(GNAT1):c.678C>G (p.Tyr226Ter) | not provided [RCV003696231] | pathogenic | 3 | 50194191 | 50194191 | Human | | name |
| 405166402 | CV3018777 | single nucleotide variant | NM_144499.3(GNAT1):c.802G>A (p.Asp268Asn) | not provided [RCV003704270] | uncertain significance | 3 | 50194594 | 50194594 | Human | | name |
| 402504933 | CV3038925 | single nucleotide variant | NM_144499.3(GNAT1):c.419C>A (p.Ser140Ter) | not provided [RCV003715105] | pathogenic | 3 | 50193633 | 50193633 | Human | | name |
| 405141303 | CV3046071 | single nucleotide variant | NM_144499.3(GNAT1):c.815A>G (p.Glu272Gly) | not provided [RCV003725669] | uncertain significance | 3 | 50194607 | 50194607 | Human | | name |
| 405232906 | CV3144965 | single nucleotide variant | NM_144499.3(GNAT1):c.583T>G (p.Phe195Val) | not provided [RCV003853222] | uncertain significance | 3 | 50194096 | 50194096 | Human | | name |
| 405069643 | CV3148983 | single nucleotide variant | NM_144499.3(GNAT1):c.934G>T (p.Val312Leu) | not provided [RCV003850745] | uncertain significance | 3 | 50194836 | 50194836 | Human | | name |
| 405205648 | CV3165706 | single nucleotide variant | NM_144499.3(GNAT1):c.665C>A (p.Ala222Glu) | not provided [RCV003861372] | uncertain significance | 3 | 50194178 | 50194178 | Human | | name |
| 405768124 | CV3262055 | single nucleotide variant | NM_144499.3(GNAT1):c.611G>T (p.Arg204Leu) | Inborn genetic diseases [RCV004395444]|not provided [RCV005104452] | uncertain significance | 3 | 50194124 | 50194124 | Human | 1 | name |
| 405768133 | CV3262056 | single nucleotide variant | NM_144499.3(GNAT1):c.726C>A (p.Ser242Arg) | Inborn genetic diseases [RCV004395445] | uncertain significance | 3 | 50194518 | 50194518 | Human | 1 | name |
| 596939456 | CV3407889 | single nucleotide variant | NM_144499.3(GNAT1):c.497C>T (p.Thr166Ile) | Retinal dystrophy [RCV004814349] | uncertain significance | 3 | 50193800 | 50193800 | Human | 2 | name |
| 596944811 | CV3409000 | single nucleotide variant | NM_144499.3(GNAT1):c.514C>G (p.Arg172Gly) | Retinal dystrophy [RCV004817653] | uncertain significance | 3 | 50193817 | 50193817 | Human | 2 | name |
| 597680423 | CV3678206 | single nucleotide variant | NM_144499.3(GNAT1):c.391G>A (p.Gly131Ser) | Inborn genetic diseases [RCV004982651] | uncertain significance | 3 | 50193605 | 50193605 | Human | 1 | name |
| 597933112 | CV3780871 | single nucleotide variant | NM_144499.3(GNAT1):c.745A>G (p.Ile249Val) | not provided [RCV005116983] | uncertain significance | 3 | 50194537 | 50194537 | Human | | name |
| 597969919 | CV3791762 | single nucleotide variant | NM_144499.3(GNAT1):c.404G>A (p.Cys135Tyr) | not provided [RCV005141579] | uncertain significance | 3 | 50193618 | 50193618 | Human | | name |
| 597968512 | CV3820944 | single nucleotide variant | NM_144499.3(GNAT1):c.541A>G (p.Ile181Val) | not provided [RCV005165785] | uncertain significance | 3 | 50193844 | 50193844 | Human | | name |
| 597832452 | CV3830969 | single nucleotide variant | NM_144499.3(GNAT1):c.810C>A (p.Phe270Leu) | not provided [RCV005170366] | uncertain significance | 3 | 50194602 | 50194602 | Human | | name |
| 597914000 | CV3833867 | single nucleotide variant | NM_144499.3(GNAT1):c.316A>G (p.Met106Val) | not provided [RCV005183226] | uncertain significance | 3 | 50193530 | 50193530 | Human | | name |
| 598264113 | CV3974355 | single nucleotide variant | NM_144499.3(GNAT1):c.576C>A (p.Phe192Leu) | Inborn genetic diseases [RCV005348771] | uncertain significance | 3 | 50193879 | 50193879 | Human | 1 | name |
| 598212244 | CV4009024 | single nucleotide variant | NM_144499.3(GNAT1):c.883G>A (p.Ala295Thr) | Congenital stationary night blindness autosomal dominant 3 [RCV005400637] | uncertain significance | 3 | 50194785 | 50194785 | Human | 1 | name |
| 13509369 | CV481553 | single nucleotide variant | NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) | Congenital stationary night blindness 1G [RCV000578484]|not provided [RCV001237857] | pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 50194806 | 50194806 | Human | 1 | name |
| 14695936 | CV622331 | single nucleotide variant | NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser) | Congenital stationary night blindness 1G [RCV000785165]|Congenital stationary night blindness autosomal dominant 3 [RCV000785164] | uncertain significance | 3 | 50193791 | 50193791 | Human | 2 | name |
| 21405026 | CV800493 | single nucleotide variant | NM_144499.3(GNAT1):c.460G>T (p.Asp154Tyr) | Retinitis pigmentosa [RCV001003036] | pathogenic | 3 | 50193763 | 50193763 | Human | 2 | name |
| 26911117 | CV821903 | single nucleotide variant | NM_144499.3(GNAT1):c.395T>G (p.Ile132Ser) | not provided [RCV001033959] | benign | 3 | 50193609 | 50193609 | Human | | name |
| 26891300 | CV828352 | single nucleotide variant | NM_144499.3(GNAT1):c.359C>A (p.Ser120Ter) | Congenital stationary night blindness autosomal dominant 3 [RCV001593238]|not provided [RCV001060334] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 3 | 50193573 | 50193573 | Human | 1 | name |
| 26919309 | CV828353 | single nucleotide variant | NM_144499.3(GNAT1):c.377T>A (p.Leu126Gln) | not provided [RCV001045234] | uncertain significance | 3 | 50193591 | 50193591 | Human | | name |
| 26890168 | CV828354 | single nucleotide variant | NM_144499.3(GNAT1):c.547A>C (p.Thr183Pro) | not provided [RCV001058966] | uncertain significance | 3 | 50193850 | 50193850 | Human | | name |
| 26920876 | CV828355 | single nucleotide variant | NM_144499.3(GNAT1):c.931G>A (p.Asp311Asn) | Inborn genetic diseases [RCV004973292]|not provided [RCV001048725] | uncertain significance | 3 | 50194833 | 50194833 | Human | 1 | name |
| 26893906 | CV828356 | single nucleotide variant | NM_144499.3(GNAT1):c.986A>C (p.Lys329Thr) | not provided [RCV001063050] | uncertain significance | 3 | 50194888 | 50194888 | Human | | name |
| 26909620 | CV856306 | single nucleotide variant | NM_144499.3(GNAT1):c.947A>G (p.Tyr316Cys) | Retinal dystrophy [RCV001073737] | uncertain significance | 3 | 50194849 | 50194849 | Human | 2 | name |
| 28884887 | CV889394 | single nucleotide variant | NM_144499.3(GNAT1):c.773C>T (p.Thr258Met) | Congenital stationary night blindness autosomal dominant 3 [RCV001150686]|not provided [RCV001233414] | uncertain significance | 3 | 50194565 | 50194565 | Human | 1 | name |
| 38496164 | CV943626 | single nucleotide variant | NM_144499.3(GNAT1):c.329T>A (p.Ile110Asn) | not provided [RCV001226202] | uncertain significance | 3 | 50193543 | 50193543 | Human | | name |
| 38495793 | CV953546 | single nucleotide variant | NM_144499.3(GNAT1):c.943A>G (p.Ile315Val) | not provided [RCV001242161] | uncertain significance | 3 | 50194845 | 50194845 | Human | | name |
| 126749884 | CV989676 | single nucleotide variant | NM_144499.3(GNAT1):c.374G>A (p.Arg125Gln) | Inborn genetic diseases [RCV003166747]|not provided [RCV001306731] | uncertain significance | 3 | 50193588 | 50193588 | Human | 1 | name |
| 126766218 | CV989677 | single nucleotide variant | NM_144499.3(GNAT1):c.401C>G (p.Ala134Gly) | not provided [RCV001301799] | uncertain significance | 3 | 50193615 | 50193615 | Human | | name |
| 126761764 | CV989678 | single nucleotide variant | NM_144499.3(GNAT1):c.887G>A (p.Gly296Asp) | Inborn genetic diseases [RCV004629543]|not provided [RCV001300189] | uncertain significance | 3 | 50194789 | 50194789 | Human | 1 | name |
| 126725341 | CV989679 | single nucleotide variant | NM_144499.3(GNAT1):c.923T>C (p.Met308Thr) | not provided [RCV001302534] | uncertain significance | 3 | 50194825 | 50194825 | Human | | name |
| 151886947 | CV1495971 | single nucleotide variant | NM_144499.3(GNAT1):c.1028A>G (p.Asn343Ser) | not provided [RCV001887667] | uncertain significance | 3 | 50194930 | 50194930 | Human | | name |
| 405081422 | CV2864804 | single nucleotide variant | NM_144499.3(GNAT1):c.1001C>G (p.Ala334Gly) | not provided [RCV003549262] | uncertain significance | 3 | 50194903 | 50194903 | Human | | name |
| 402520471 | CV2940058 | single nucleotide variant | NM_144499.3(GNAT1):c.1000G>T (p.Ala334Ser) | not provided [RCV003663266] | uncertain significance | 3 | 50194902 | 50194902 | Human | | name |
| 405226813 | CV3169485 | single nucleotide variant | NM_144499.3(GNAT1):c.1003G>C (p.Val335Leu) | not provided [RCV003864509] | uncertain significance | 3 | 50194905 | 50194905 | Human | | name |
| 596929662 | CV3540975 | single nucleotide variant | NM_144499.3(GNAT1):c.1053A>G (p.Ter351Trp) | Retinal dystrophy [RCV004795298] | likely pathogenic | 3 | 50194955 | 50194955 | Human | 2 | name |
| 597683973 | CV3678207 | single nucleotide variant | NM_144499.3(GNAT1):c.1040G>T (p.Cys347Phe) | Inborn genetic diseases [RCV004983741] | uncertain significance | 3 | 50194942 | 50194942 | Human | 1 | name |
| 38463890 | CV918845 | single nucleotide variant | NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val) | Congenital stationary night blindness 1G [RCV001199362] | uncertain significance | 3 | 50194917 | 50194917 | Human | 1 | name |
| 38461732 | CV953547 | single nucleotide variant | NM_144499.3(GNAT1):c.1004T>C (p.Val335Ala) | not provided [RCV001246958] | uncertain significance | 3 | 50194906 | 50194906 | Human | | name |
| 127236941 | CV1059860 | deletion | NM_144499.3(GNAT1):c.255_273del (p.Thr86fs) | not provided [RCV001382720] | pathogenic | 3 | 50193368 | 50193386 | Human | | name |
| 151781322 | CV1369637 | duplication | NM_144499.3(GNAT1):c.146_149dup (p.Lys50fs) | not provided [RCV001930469] | pathogenic | 3 | 50193170 | 50193171 | Human | | name |
| 402492330 | CV2945696 | microsatellite | NM_144499.3(GNAT1):c.281_282del (p.Ser94fs) | not provided [RCV003660592] | pathogenic | 3 | 50193394 | 50193395 | Human | | name |
| 127337683 | CV1135121 | insertion | NM_144499.3(GNAT1):c.449+16_449+17insAGCGGGG | not provided [RCV001492981] | likely benign | 3 | 50193678 | 50193679 | Human | | name |
| 151775687 | CV1427481 | microsatellite | NM_144499.3(GNAT1):c.815AGA[1] (p.Lys273del) | not provided [RCV001864492] | uncertain significance | 3 | 50194607 | 50194609 | Human | | name |
| 405142579 | CV2958838 | microsatellite | NM_144499.3(GNAT1):c.808TTC[1] (p.Phe271del) | not provided [RCV003673365] | uncertain significance | 3 | 50194598 | 50194600 | Human | | name |
| 405150970 | CV3031293 | microsatellite | NM_144499.3(GNAT1):c.649ATC[1] (p.Ile218del) | not provided [RCV003703246] | uncertain significance | 3 | 50194161 | 50194163 | Human | | name |
| 38489859 | CV943627 | deletion | NM_144499.3(GNAT1):c.896_898del (p.Ile299del) | not provided [RCV001238593] | uncertain significance | 3 | 50194796 | 50194798 | Human | | name |
| 405119932 | CV3027017 | microsatellite | NM_144499.3(GNAT1):c.1041_1042del (p.Cys347fs) | not provided [RCV003700624] | uncertain significance | 3 | 50194941 | 50194942 | Human | | name |
| 151846946 | CV1483893 | indel | NM_144499.3(GNAT1):c.277_278delinsAT (p.Asp93Ile) | not provided [RCV001903560] | uncertain significance | 3 | 50193392 | 50193393 | Human | | name |
| 156375513 | CV2191008 | indel | NM_144499.3(GNAT1):c.367_368delinsCA (p.Ile123His) | not provided [RCV003050067] | uncertain significance | 3 | 50193581 | 50193582 | Human | | name |
| 597968871 | CV3791131 | indel | NM_144499.3(GNAT1):c.368_369delinsAA (p.Ile123Lys) | not provided [RCV005141163] | uncertain significance | 3 | 50193582 | 50193583 | Human | | name |
