NM_015629.4(PRPF31):c.758_767del (p.Gly253fs) |
deletion |
not provided [RCV000520877] |
Chr19:54124557..54124566 [GRCh38] Chr19:54627936..54627945 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1115_1125del (p.Arg372fs) |
deletion |
Retinitis pigmentosa 11 [RCV000004606] |
Chr19:54128344..54128354 [GRCh38] Chr19:54631719..54631729 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.527+3A>G |
single nucleotide variant |
Retinal dystrophy [RCV001073395]|Retinitis pigmentosa 11 [RCV000004608]|not provided [RCV001851647] |
Chr19:54123563 [GRCh38] Chr19:54626942 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
PRPF31, IVS6AS, 42-BP DEL, -3 |
deletion |
Retinitis pigmentosa 11 [RCV000004609] |
Chr19:19q13.4 |
pathogenic |
NM_015629.4(PRPF31):c.548_580dup (p.Met193_Ala194insGluLeuGluArgLeuGluGluAlaCysAspMet) |
duplication |
Retinitis pigmentosa 11 [RCV000004611]|not provided [RCV003678978] |
Chr19:54123766..54123767 [GRCh38] Chr19:54627145..54627146 [GRCh37] Chr19:19q13.42 |
pathogenic|uncertain significance |
NM_015629.4(PRPF31):c.770dup (p.Thr258fs) |
duplication |
Retinitis pigmentosa 11 [RCV000004612] |
Chr19:54124569..54124570 [GRCh38] Chr19:54627948..54627949 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.332_343del (p.His111_Ile114del) |
deletion |
Retinitis pigmentosa 11 [RCV000004613] |
Chr19:54122500..54122511 [GRCh38] Chr19:54625879..54625890 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1374+654C>G |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV000004614]|not provided [RCV001092520] |
Chr19:54130024 [GRCh38] Chr19:54633399 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.176del (p.Met59fs) |
deletion |
Retinitis pigmentosa 11 [RCV001526734] |
Chr19:54118454 [GRCh38] Chr19:54621834 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.615C>G (p.Tyr205Ter) |
single nucleotide variant |
Retinitis pigmentosa [RCV000132674]|not provided [RCV002514758] |
Chr19:54123836 [GRCh38] Chr19:54627215 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.562G>T (p.Glu188Ter) |
single nucleotide variant |
Retinitis pigmentosa [RCV000132673] |
Chr19:54123783 [GRCh38] Chr19:54627162 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.764A>T (p.Gln255Leu) |
single nucleotide variant |
Retinitis pigmentosa [RCV000132675] |
Chr19:54124565 [GRCh38] Chr19:54627944 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.646G>C (p.Ala216Pro) |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV000004607] |
Chr19:54123867 [GRCh38] Chr19:54627246 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.581C>A (p.Ala194Glu) |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV000004610] |
Chr19:54123802 [GRCh38] Chr19:54627181 [GRCh37] Chr19:19q13.42 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 |
copy number gain |
See cases [RCV000050883] |
Chr19:50191219..58535818 [GRCh38] Chr19:50694476..59047185 [GRCh37] Chr19:55386288..63738997 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 |
copy number gain |
See cases [RCV000052925] |
Chr19:49907832..58557889 [GRCh38] Chr19:50411089..59069256 [GRCh37] Chr19:55102901..63761068 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 |
copy number gain |
See cases [RCV000052926] |
Chr19:51141518..58539965 [GRCh38] Chr19:51644775..59051332 [GRCh37] Chr19:56336587..63743144 [NCBI36] Chr19:19q13.41-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 |
copy number gain |
See cases [RCV000052914] |
Chr19:47908540..58539965 [GRCh38] Chr19:48411797..59051332 [GRCh37] Chr19:53103609..63743144 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 |
copy number gain |
See cases [RCV000052915] |
Chr19:47929575..58572206 [GRCh38] Chr19:48432832..59083573 [GRCh37] Chr19:53124644..63775385 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
NM_015629.4(PRPF31):c.149C>T (p.Thr50Ile) |
single nucleotide variant |
Retinitis pigmentosa [RCV001135991]|not provided [RCV000081776] |
Chr19:54118427 [GRCh38] Chr19:54621807 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.615C>A (p.Tyr205Ter) |
single nucleotide variant |
not provided [RCV000081777] |
Chr19:54123836 [GRCh38] Chr19:54627215 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1073+1G>A |
single nucleotide variant |
Retinal dystrophy [RCV001074798]|not provided [RCV000173871] |
Chr19:54128201 [GRCh38] Chr19:54631576 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.1069C>T (p.Arg357Cys) |
single nucleotide variant |
not provided [RCV000173872] |
Chr19:54128196 [GRCh38] Chr19:54631571 [GRCh37] Chr19:19q13.42 |
uncertain significance |
GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3 |
copy number gain |
See cases [RCV000134174] |
Chr19:52612432..58581203 [GRCh38] Chr19:53115685..59092570 [GRCh37] Chr19:57807497..63784382 [NCBI36] Chr19:19q13.41-13.43 |
pathogenic |
GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3 |
copy number gain |
See cases [RCV000134139] |
Chr19:52955056..58581203 [GRCh38] Chr19:53458309..59092570 [GRCh37] Chr19:58150121..63784382 [NCBI36] Chr19:19q13.41-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 |
copy number gain |
See cases [RCV000135843] |
Chr19:50152520..58581203 [GRCh38] Chr19:50655777..59092570 [GRCh37] Chr19:55347589..63784382 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3 |
copy number gain |
See cases [RCV000142008] |
Chr19:52143873..58445521 [GRCh38] Chr19:52647126..58956888 [GRCh37] Chr19:57338938..63648700 [NCBI36] Chr19:19q13.41-13.43 |
pathogenic |
NM_015629.4(PRPF31):c.1273C>T (p.Gln425Ter) |
single nucleotide variant |
not provided [RCV000153774] |
Chr19:54129183 [GRCh38] Chr19:54632558 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1147-9= |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV001803064]|Retinitis pigmentosa [RCV000302719]|not provided [RCV001522224]|not specified [RCV000153773] |
Chr19:54129048 [GRCh38] Chr19:54632423 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.1374+9C>T |
single nucleotide variant |
not provided [RCV000153775] |
Chr19:54129379 [GRCh38] Chr19:54632754 [GRCh37] Chr19:19q13.42 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_015629.4(PRPF31):c.138T>C (p.Asp46=) |
single nucleotide variant |
PRPF31-related condition [RCV003927613]|Retinal dystrophy [RCV003888627]|Retinitis pigmentosa [RCV001132611]|not provided [RCV000175872] |
Chr19:54118416 [GRCh38] Chr19:54621796 [GRCh37] Chr19:19q13.42 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015629.4(PRPF31):c.527+9G>T |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV000625320]|Retinitis pigmentosa [RCV001129022]|not provided [RCV000179492]|not specified [RCV001698995] |
Chr19:54123569 [GRCh38] Chr19:54626948 [GRCh37] Chr19:19q13.42 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015629.4(PRPF31):c.557G>T (p.Arg186Leu) |
single nucleotide variant |
not provided [RCV000520276] |
Chr19:54123778 [GRCh38] Chr19:54627157 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter) |
single nucleotide variant |
Retinal dystrophy [RCV000210312]|Retinitis pigmentosa 11 [RCV001542614]|not provided [RCV000760506] |
Chr19:54128351 [GRCh38] Chr19:54631726 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.341T>A (p.Ile114Asn) |
single nucleotide variant |
Retinal dystrophy [RCV000225367] |
Chr19:54122515 [GRCh38] Chr19:54625894 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.967G>T (p.Glu323Ter) |
single nucleotide variant |
Retinal dystrophy [RCV000225424] |
Chr19:54128094 [GRCh38] Chr19:54631469 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.916G>A (p.Asp306Asn) |
single nucleotide variant |
Retinal dystrophy [RCV000225444] |
Chr19:54126588 [GRCh38] Chr19:54629963 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.994C>T (p.Gln332Ter) |
single nucleotide variant |
Retinal dystrophy [RCV000225503] |
Chr19:54128121 [GRCh38] Chr19:54631496 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.400del (p.Asp134fs) |
deletion |
Retinal dystrophy [RCV000225511] |
Chr19:54122573 [GRCh38] Chr19:54625952 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) |
single nucleotide variant |
Retinal dystrophy [RCV000225648]|Retinitis pigmentosa [RCV001723811]|not provided [RCV001854793] |
Chr19:54128187 [GRCh38] Chr19:54631562 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.121C>G (p.Leu41Val) |
single nucleotide variant |
Retinal dystrophy [RCV000225613]|not provided [RCV001854792] |
Chr19:54118399 [GRCh38] Chr19:54621779 [GRCh37] Chr19:19q13.42 |
uncertain significance |
GRCh37/hg19 19q13.42(chr19:54280799-54635178)x1 |
copy number loss |
See cases [RCV000240343] |
Chr19:54280799..54635178 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_013342.4(TFPT):c.-350G>T |
single nucleotide variant |
Retinitis Pigmentosa, Dominant [RCV000302480]|not provided [RCV002292527] |
Chr19:54115619 [GRCh38] Chr19:54618999 [GRCh37] Chr19:19q13.42 |
benign|likely benign|uncertain significance |
NM_015629.4(PRPF31):c.855+12G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000304059]|not provided [RCV003765908] |
Chr19:54124668 [GRCh38] Chr19:54628047 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_013342.4(TFPT):c.-330C>T |
single nucleotide variant |
Retinitis Pigmentosa, Dominant [RCV000268343] |
Chr19:54115599 [GRCh38] Chr19:54618979 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.-9+14= |
single nucleotide variant |
Retinitis pigmentosa [RCV000270426] |
Chr19:54115811 [GRCh38] Chr19:54619191 [GRCh37] Chr19:19q13.42 |
benign|likely benign |
NM_015629.4(PRPF31):c.1147-5C>G |
single nucleotide variant |
Retinitis pigmentosa [RCV000272373]|not provided [RCV002057531] |
Chr19:54129052 [GRCh38] Chr19:54632427 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.*152G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000278591]|not provided [RCV003311761] |
Chr19:54131584 [GRCh38] Chr19:54635015 [GRCh37] Chr19:19q13.42 |
benign|likely benign|uncertain significance |
NM_015629.4(PRPF31):c.*152G>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000341846] |
Chr19:54131584 [GRCh38] Chr19:54635015 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.540G>A (p.Ser180=) |
single nucleotide variant |
not provided [RCV000304803] |
Chr19:54123761 [GRCh38] Chr19:54627140 [GRCh37] Chr19:19q13.42 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_015629.3(PRPF31):c.-113G>C |
single nucleotide variant |
Retinitis Pigmentosa, Dominant [RCV000272031] |
Chr19:54115693 [GRCh38] Chr19:54619073 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1467C>T (p.Val489=) |
single nucleotide variant |
Retinal dystrophy [RCV003888779]|Retinitis pigmentosa 11 [RCV001801805]|Retinitis pigmentosa [RCV000274980]|not provided [RCV001518776] |
Chr19:54131399 [GRCh38] Chr19:54634830 [GRCh37] Chr19:19q13.42 |
benign|likely benign |
NM_015629.4(PRPF31):c.1297G>A (p.Val433Ile) |
single nucleotide variant |
Retinitis pigmentosa [RCV000276110]|not provided [RCV001850769] |
Chr19:54129293 [GRCh38] Chr19:54632668 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.*197G>C |
single nucleotide variant |
Retinitis pigmentosa [RCV000283209] |
Chr19:54131629 [GRCh38] Chr19:54635060 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1206G>A (p.Ser402=) |
single nucleotide variant |
Retinal dystrophy [RCV003888777]|Retinitis pigmentosa [RCV000306385]|not provided [RCV001401372] |
Chr19:54129116 [GRCh38] Chr19:54632491 [GRCh37] Chr19:19q13.42 |
benign|likely benign|uncertain significance |
NM_015629.4(PRPF31):c.420+7G>A |
single nucleotide variant |
PRPF31-related condition [RCV003940323]|Retinitis pigmentosa 11 [RCV002502275]|Retinitis pigmentosa [RCV000374663]|not provided [RCV001516676] |
Chr19:54122601 [GRCh38] Chr19:54625980 [GRCh37] Chr19:19q13.42 |
benign|likely benign |
NM_015629.4(PRPF31):c.950del (p.Gly317fs) |
deletion |
Retinitis pigmentosa [RCV001723870]|not provided [RCV000324617] |
Chr19:54128075 [GRCh38] Chr19:54631450 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.*46G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000375431] |
Chr19:54131478 [GRCh38] Chr19:54634909 [GRCh37] Chr19:19q13.42 |
benign|likely benign |
NM_015629.4(PRPF31):c.564G>A (p.Glu188=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000282435]|not provided [RCV001522215] |
Chr19:54123785 [GRCh38] Chr19:54627164 [GRCh37] Chr19:19q13.42 |
benign|likely benign |
NM_015629.4(PRPF31):c.-21G>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000381787] |
Chr19:54115785 [GRCh38] Chr19:54619165 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.1416G>A (p.Val472=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000385623]|not provided [RCV001516677] |
Chr19:54131348 [GRCh38] Chr19:54634779 [GRCh37] Chr19:19q13.42 |
benign|likely benign |
NM_015629.4(PRPF31):c.107A>G (p.Gln36Arg) |
single nucleotide variant |
Retinitis pigmentosa [RCV000332594]|not provided [RCV002521250] |
Chr19:54118385 [GRCh38] Chr19:54621765 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.*154C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000380153] |
Chr19:54131586 [GRCh38] Chr19:54635017 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.1302A>G (p.Val434=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000333392]|not provided [RCV001519444] |
Chr19:54129298 [GRCh38] Chr19:54632673 [GRCh37] Chr19:19q13.42 |
benign|likely benign |
NM_015629.4(PRPF31):c.697+10C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000335195]|not provided [RCV002057528] |
Chr19:54123928 [GRCh38] Chr19:54627307 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.1074-6C>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000406523]|not provided [RCV002057530] |
Chr19:54128299 [GRCh38] Chr19:54631674 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.735C>T (p.Pro245=) |
single nucleotide variant |
Retinal dystrophy [RCV003888776]|Retinitis pigmentosa 11 [RCV001801804]|Retinitis pigmentosa [RCV000393790]|not provided [RCV001518775] |
Chr19:54124536 [GRCh38] Chr19:54627915 [GRCh37] Chr19:19q13.42 |
benign|likely benign |
NM_015629.3(PRPF31):c.-127G>A |
single nucleotide variant |
Retinitis Pigmentosa, Dominant [RCV000359738] |
Chr19:54115679 [GRCh38] Chr19:54619059 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_013342.4(TFPT):c.-194G>A |
single nucleotide variant |
Retinitis Pigmentosa, Dominant [RCV000360744] |
Chr19:54115463 [GRCh38] Chr19:54618843 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.855+14G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000342676]|not provided [RCV002057529] |
Chr19:54124670 [GRCh38] Chr19:54628049 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.182C>G (p.Ala61Gly) |
single nucleotide variant |
not provided [RCV000330549] |
Chr19:54118577 [GRCh38] Chr19:54621957 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.239-13C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000350418]|not provided [RCV001511946] |
Chr19:54121847 [GRCh38] Chr19:54625226 [GRCh37] Chr19:19q13.42 |
benign|likely benign |
NM_015629.4(PRPF31):c.*19G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000318379] |
Chr19:54131451 [GRCh38] Chr19:54634882 [GRCh37] Chr19:19q13.42 |
benign|likely benign |
NM_015629.4(PRPF31):c.1230A>G (p.Thr410=) |
single nucleotide variant |
Retinal dystrophy [RCV003888778]|Retinitis pigmentosa 11 [RCV002502276]|Retinitis pigmentosa [RCV000363655]|not provided [RCV001519443] |
Chr19:54129140 [GRCh38] Chr19:54632515 [GRCh37] Chr19:19q13.42 |
benign|likely benign |
NM_015629.4(PRPF31):c.1147-9C>G |
single nucleotide variant |
Retinitis pigmentosa [RCV000364469] |
Chr19:54129048 [GRCh38] Chr19:54632423 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.743dup (p.Asn248fs) |
duplication |
not provided [RCV000487978] |
Chr19:54124542..54124543 [GRCh38] Chr19:54627921..54627922 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.-32A>C |
single nucleotide variant |
Retinitis pigmentosa [RCV000329572] |
Chr19:54115774 [GRCh38] Chr19:54619154 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.207G>A (p.Glu69=) |
single nucleotide variant |
Retinitis pigmentosa [RCV000293184]|not provided [RCV002521251] |
Chr19:54118602 [GRCh38] Chr19:54621982 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.177+7G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000389451]|not provided [RCV002057527] |
Chr19:54118462 [GRCh38] Chr19:54621842 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_013342.4(TFPT):c.-127G>A |
single nucleotide variant |
Retinitis Pigmentosa, Dominant [RCV000390160] |
Chr19:54115396 [GRCh38] Chr19:54618776 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.*224_*228dup |
duplication |
Retinitis Pigmentosa, Dominant [RCV000340511] |
Chr19:54131655..54131656 [GRCh38] Chr19:54635086..54635087 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.815G>T (p.Gly272Val) |
single nucleotide variant |
Retinal dystrophy [RCV001074801]|not provided [RCV000523058] |
Chr19:54124616 [GRCh38] Chr19:54627995 [GRCh37] Chr19:19q13.42 |
likely pathogenic|uncertain significance |
NM_015629.4(PRPF31):c.973G>T (p.Glu325Ter) |
single nucleotide variant |
not provided [RCV000591126] |
Chr19:54128100 [GRCh38] Chr19:54631475 [GRCh37] Chr19:19q13.42 |
pathogenic |
GRCh37/hg19 19q13.42(chr19:54618744-54622073)x1 |
copy number loss |
Retinitis pigmentosa 11 [RCV000735679] |
Chr19:54618744..54622073 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.837C>T (p.Ile279=) |
single nucleotide variant |
Retinal dystrophy [RCV003889970]|not provided [RCV000728996] |
Chr19:54124638 [GRCh38] Chr19:54628017 [GRCh37] Chr19:19q13.42 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_015629.4(PRPF31):c.527+1G>T |
single nucleotide variant |
Retinal dystrophy [RCV001075617]|See cases [RCV003231471]|not provided [RCV000414191] |
Chr19:54123561 [GRCh38] Chr19:54626940 [GRCh37] Chr19:19q13.42 |
pathogenic|uncertain significance |
NM_015629.4(PRPF31):c.838_841dup (p.Gln281fs) |
duplication |
Retinitis pigmentosa [RCV000504828] |
Chr19:54124637..54124638 [GRCh38] Chr19:54628016..54628017 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1129del (p.Arg377fs) |
deletion |
Retinitis pigmentosa [RCV000504840] |
Chr19:54128359 [GRCh38] Chr19:54631734 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1147-153_1196del |
deletion |
Retinitis pigmentosa [RCV000504852] |
Chr19:54128904..54129106 [GRCh38] Chr19:54632279..54632481 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Retinitis pigmentosa [RCV000505066] |
Chr19:54118279 [GRCh38] Chr19:54621659 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 |
copy number gain |
See cases [RCV000445925] |
Chr19:50489390..59095359 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
NM_015629.4(PRPF31):c.855+1G>A |
single nucleotide variant |
not provided [RCV000437897] |
Chr19:54124657 [GRCh38] Chr19:54628036 [GRCh37] Chr19:19q13.42 |
pathogenic |
Single allele |
deletion |
Retinitis pigmentosa [RCV000504658] |
Chr19:54622548..54633842 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.359del (p.Lys120fs) |
deletion |
Retinal dystrophy [RCV000504670] |
Chr19:54122531 [GRCh38] Chr19:54625910 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
GRCh37/hg19 19q13.42-13.43(chr19:54344821-58956888)x3 |
copy number gain |
See cases [RCV000448186] |
Chr19:54344821..58956888 [GRCh37] Chr19:19q13.42-13.43 |
pathogenic |
NM_015629.4(PRPF31):c.1007C>G (p.Pro336Arg) |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV000625658] |
Chr19:54128134 [GRCh38] Chr19:54631509 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln) |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV001004991]|not provided [RCV000658855] |
Chr19:54123853 [GRCh38] Chr19:54627232 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.652_655dup (p.Leu219fs) |
duplication |
Retinitis pigmentosa [RCV003313014] |
Chr19:54123870..54123871 [GRCh38] Chr19:54627249..54627250 [GRCh37] Chr19:19q13.42 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) |
copy number gain |
See cases [RCV000512296] |
Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 |
copy number gain |
See cases [RCV000511289] |
Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
NM_015629.4(PRPF31):c.634A>G (p.Met212Val) |
single nucleotide variant |
not provided [RCV000523527] |
Chr19:54123855 [GRCh38] Chr19:54627234 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.420G>C (p.Lys140Asn) |
single nucleotide variant |
Retinitis pigmentosa [RCV001199737]|not provided [RCV000585399] |
Chr19:54122594 [GRCh38] Chr19:54625973 [GRCh37] Chr19:19q13.42 |
pathogenic|uncertain significance |
NM_015629.4(PRPF31):c.332A>G (p.His111Arg) |
single nucleotide variant |
not provided [RCV000512674] |
Chr19:54122506 [GRCh38] Chr19:54625885 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.582_583del (p.Leu195fs) |
microsatellite |
Retinitis pigmentosa [RCV001199739]|not provided [RCV000513152] |
Chr19:54123801..54123802 [GRCh38] Chr19:54627180..54627181 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) |
deletion |
Retinitis pigmentosa 11 [RCV000735652]|not provided [RCV000513499] |
Chr19:54126575 [GRCh38] Chr19:54629950 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter) |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV001376220]|Retinitis pigmentosa [RCV000991057]|not provided [RCV000657792] |
Chr19:54128119 [GRCh38] Chr19:54631494 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) |
single nucleotide variant |
Retinal dystrophy [RCV001074752]|Retinitis pigmentosa 11 [RCV000678605]|not provided [RCV001584548] |
Chr19:54126582 [GRCh38] Chr19:54629957 [GRCh37] Chr19:19q13.42 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
NM_015629.4(PRPF31):c.1291C>T (p.Gln431Ter) |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV000678604]|not provided [RCV002532180] |
Chr19:54129287 [GRCh38] Chr19:54632662 [GRCh37] Chr19:19q13.42 |
pathogenic |
GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3 |
copy number gain |
not provided [RCV000684091] |
Chr19:53867570..55833460 [GRCh37] Chr19:19q13.42 |
uncertain significance |
GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3 |
copy number gain |
not provided [RCV000684095] |
Chr19:54196216..58759679 [GRCh37] Chr19:19q13.42-13.43 |
pathogenic |
NM_015629.4(PRPF31):c.697+1G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV001003131] |
Chr19:54123919 [GRCh38] Chr19:54627298 [GRCh37] Chr19:19q13.42 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 |
copy number gain |
not provided [RCV000752439] |
Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 |
copy number gain |
not provided [RCV000740208] |
Chr19:50740074..59097160 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
NM_015629.4(PRPF31):c.1268C>T (p.Thr423Met) |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV001591826]|not provided [RCV001866150] |
Chr19:54129178 [GRCh38] Chr19:54632553 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1374+569C>G |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV001542615] |
Chr19:54129939 [GRCh38] Chr19:54633314 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1140C>T (p.Phe380=) |
single nucleotide variant |
Retinal dystrophy [RCV001074858]|Retinitis pigmentosa 11 [RCV001002240]|not provided [RCV000762038] |
Chr19:54128371 [GRCh38] Chr19:54631746 [GRCh37] Chr19:19q13.42 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_015629.4(PRPF31):c.*4_*7del |
deletion |
not provided [RCV000762039] |
Chr19:54131434..54131437 [GRCh38] Chr19:54634865..54634868 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.220C>T (p.Gln74Ter) |
single nucleotide variant |
not provided [RCV000760430] |
Chr19:54118615 [GRCh38] Chr19:54621995 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.697+165= |
single nucleotide variant |
not provided [RCV001648048] |
Chr19:54124083 [GRCh38] Chr19:54627462 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.239-1G>C |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV003448825] |
Chr19:54121859 [GRCh38] Chr19:54625238 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1190dup (p.His398fs) |
duplication |
Retinitis pigmentosa [RCV000787652] |
Chr19:54129097..54129098 [GRCh38] Chr19:54632472..54632473 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.3:c.(?_-1)_(238+1_239-1)del |
deletion |
Retinitis pigmentosa [RCV000787755] |
Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.421-2A>G |
single nucleotide variant |
Retinitis pigmentosa [RCV000787654]|not provided [RCV001856212] |
Chr19:54123452 [GRCh38] Chr19:54626831 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.535delinsGG (p.Leu179fs) |
indel |
Retinitis pigmentosa [RCV001724807] |
Chr19:54123756 [GRCh38] Chr19:54627135 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.550_552del (p.Leu184del) |
deletion |
Retinal dystrophy [RCV001075312]|not provided [RCV003736971] |
Chr19:54123770..54123772 [GRCh38] Chr19:54627149..54627151 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.808C>G (p.His270Asp) |
single nucleotide variant |
Retinal dystrophy [RCV001075412] |
Chr19:54124609 [GRCh38] Chr19:54627988 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1074-15C>G |
single nucleotide variant |
Retinal dystrophy [RCV001075444] |
Chr19:54128290 [GRCh38] Chr19:54631665 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.698-1G>C |
single nucleotide variant |
Retinal dystrophy [RCV001075636] |
Chr19:54124498 [GRCh38] Chr19:54627877 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1073+17G>C |
single nucleotide variant |
Retinal dystrophy [RCV001075648]|not provided [RCV002554766] |
Chr19:54128217 [GRCh38] Chr19:54631592 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Retinitis pigmentosa [RCV000991048] |
Chr19:54118281 [GRCh38] Chr19:54621661 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.89_92del (p.Pro30fs) |
deletion |
Retinitis pigmentosa [RCV000991049] |
Chr19:54118364..54118367 [GRCh38] Chr19:54621744..54621747 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter) |
single nucleotide variant |
Retinitis pigmentosa [RCV000991050]|not provided [RCV001858731] |
Chr19:54118443 [GRCh38] Chr19:54621823 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.322+1G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000991051] |
Chr19:54121944 [GRCh38] Chr19:54625323 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.335del (p.Lys112fs) |
deletion |
Retinitis pigmentosa [RCV000991054] |
Chr19:54122508 [GRCh38] Chr19:54625887 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001075718]|Retinitis pigmentosa [RCV000991055] |
Chr19:54123794 [GRCh38] Chr19:54627173 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.856-1G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000991056] |
Chr19:54126527 [GRCh38] Chr19:54629902 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.239-2A>G |
single nucleotide variant |
Retinitis pigmentosa [RCV000991310]|not provided [RCV001543581] |
Chr19:54121858 [GRCh38] Chr19:54625237 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.808dup (p.His270fs) |
duplication |
Retinal dystrophy [RCV001073228] |
Chr19:54124605..54124606 [GRCh38] Chr19:54627984..54627985 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.636del (p.Met212fs) |
deletion |
Retinal dystrophy [RCV001073229]|not provided [RCV002557892] |
Chr19:54123857 [GRCh38] Chr19:54627236 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1146+1G>A |
single nucleotide variant |
Retinal dystrophy [RCV001073298] |
Chr19:54128378 [GRCh38] Chr19:54631753 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1107_1113dup (p.Arg372fs) |
duplication |
Retinal dystrophy [RCV001073823] |
Chr19:54128336..54128337 [GRCh38] Chr19:54631711..54631712 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.358_361del (p.Lys120fs) |
deletion |
Retinal dystrophy [RCV001073856] |
Chr19:54122531..54122534 [GRCh38] Chr19:54625910..54625913 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.195del (p.Met65fs) |
deletion |
Retinal dystrophy [RCV001073888]|not provided [RCV003688897] |
Chr19:54118590 [GRCh38] Chr19:54621970 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.912_914dup (p.Val305dup) |
duplication |
Retinal dystrophy [RCV001073938]|not provided [RCV001360711] |
Chr19:54126583..54126584 [GRCh38] Chr19:54629958..54629959 [GRCh37] Chr19:19q13.42 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_015629.4(PRPF31):c.946-3C>G |
single nucleotide variant |
Retinal dystrophy [RCV001074022] |
Chr19:54128070 [GRCh38] Chr19:54631445 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.682GCC[1] (p.Ala229del) |
microsatellite |
Retinal dystrophy [RCV001074381]|not provided [RCV002554711] |
Chr19:54123903..54123905 [GRCh38] Chr19:54627282..54627284 [GRCh37] Chr19:19q13.42 |
likely pathogenic|uncertain significance |
NM_015629.4(PRPF31):c.745A>T (p.Ile249Phe) |
single nucleotide variant |
Retinal dystrophy [RCV001074461] |
Chr19:54124546 [GRCh38] Chr19:54627925 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1406dup (p.Lys470fs) |
duplication |
Retinal dystrophy [RCV001074471] |
Chr19:54131337..54131338 [GRCh38] Chr19:54634768..54634769 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1040del (p.Leu347fs) |
deletion |
Retinal dystrophy [RCV001074599]|not provided [RCV001862567] |
Chr19:54128167 [GRCh38] Chr19:54631542 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.73_166dup (p.Asp56fs) |
duplication |
Retinal dystrophy [RCV001074667]|Retinitis pigmentosa [RCV001724240] |
Chr19:54118340..54118341 [GRCh38] Chr19:54621720..54621721 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.854del (p.Pro285fs) |
deletion |
Retinal dystrophy [RCV001074712] |
Chr19:54124654 [GRCh38] Chr19:54628033 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1451C>G (p.Ala484Gly) |
single nucleotide variant |
Retinal dystrophy [RCV001074751]|not provided [RCV001527338] |
Chr19:54131383 [GRCh38] Chr19:54634814 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.946-2A>G |
single nucleotide variant |
Retinal dystrophy [RCV001075047]|Retinitis pigmentosa 11 [RCV002471034]|not provided [RCV002554738] |
Chr19:54128071 [GRCh38] Chr19:54631446 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.1129C>G (p.Arg377Gly) |
single nucleotide variant |
Retinal dystrophy [RCV001075136]|not provided [RCV001862597] |
Chr19:54128360 [GRCh38] Chr19:54631735 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.373C>G (p.Leu125Val) |
single nucleotide variant |
Retinal dystrophy [RCV000787865]|not provided [RCV002535758] |
Chr19:54122547 [GRCh38] Chr19:54625926 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1222C>T (p.Arg408Trp) |
single nucleotide variant |
Retinitis pigmentosa [RCV000787866]|not provided [RCV001869192] |
Chr19:54129132 [GRCh38] Chr19:54632507 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.666_668del (p.Ile223del) |
deletion |
Retinitis pigmentosa [RCV000787655] |
Chr19:54123885..54123887 [GRCh38] Chr19:54627264..54627266 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1073+5G>A |
single nucleotide variant |
Retinal dystrophy [RCV000787918]|not provided [RCV001869198] |
Chr19:54128205 [GRCh38] Chr19:54631580 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1110_1117del (p.Ile371fs) |
deletion |
Retinitis pigmentosa 11 [RCV001029844] |
Chr19:54128337..54128344 [GRCh38] Chr19:54631712..54631719 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.757G>C (p.Gly253Arg) |
single nucleotide variant |
not provided [RCV003314791] |
Chr19:54124558 [GRCh38] Chr19:54627937 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.673del (p.Ala225fs) |
deletion |
Retinitis pigmentosa [RCV000787656] |
Chr19:54123891 [GRCh38] Chr19:54627270 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.997del (p.Glu333fs) |
deletion |
Retinitis pigmentosa [RCV000787659] |
Chr19:54128123 [GRCh38] Chr19:54631498 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.239-6_239-3del |
deletion |
not provided [RCV000997008] |
Chr19:54121853..54121856 [GRCh38] Chr19:54625232..54625235 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.3:c.(?_-1)_(*1_?)del |
deletion |
Retinitis pigmentosa [RCV000787754] |
Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro) |
single nucleotide variant |
Leber congenital amaurosis [RCV000787864] |
Chr19:54129332 [GRCh38] Chr19:54632707 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.279dup (p.Val94fs) |
duplication |
Retinitis pigmentosa [RCV001199735]|not provided [RCV000997009] |
Chr19:54121899..54121900 [GRCh38] Chr19:54625278..54625279 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.1275G>T (p.Gln425His) |
single nucleotide variant |
Retinitis pigmentosa [RCV001199733]|not provided [RCV000997011] |
Chr19:54129185 [GRCh38] Chr19:54632560 [GRCh37] Chr19:19q13.42 |
pathogenic|uncertain significance |
NM_015629.4(PRPF31):c.420+11A>G |
single nucleotide variant |
Retinitis pigmentosa [RCV001135994]|not provided [RCV003769642] |
Chr19:54122605 [GRCh38] Chr19:54625984 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.1320C>T (p.Thr440=) |
single nucleotide variant |
Retinal dystrophy [RCV003890281]|Retinitis pigmentosa [RCV001136118]|not provided [RCV002070583] |
Chr19:54129316 [GRCh38] Chr19:54632691 [GRCh37] Chr19:19q13.42 |
benign|likely benign |
NM_015629.4(PRPF31):c.706G>A (p.Gly236Ser) |
single nucleotide variant |
Retinitis pigmentosa [RCV001131700]|not provided [RCV001759894] |
Chr19:54124507 [GRCh38] Chr19:54627886 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.81_84del (p.Glu28fs) |
deletion |
Retinitis pigmentosa [RCV001199740]|not provided [RCV001091272] |
Chr19:54118359..54118362 [GRCh38] Chr19:54621739..54621742 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.322+4_322+7del |
microsatellite |
not provided [RCV001091273] |
Chr19:54121941..54121944 [GRCh38] Chr19:54625320..54625323 [GRCh37] Chr19:19q13.42 |
pathogenic|conflicting interpretations of pathogenicity |
NM_015629.4(PRPF31):c.239-12G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV001135993]|not provided [RCV001509813] |
Chr19:54121848 [GRCh38] Chr19:54625227 [GRCh37] Chr19:19q13.42 |
benign|uncertain significance |
NM_015629.4(PRPF31):c.961A>T (p.Lys321Ter) |
single nucleotide variant |
Retinitis pigmentosa [RCV000787658] |
Chr19:54128088 [GRCh38] Chr19:54631463 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1234del (p.Gln411_Val412insTer) |
deletion |
Retinitis pigmentosa [RCV000787653] |
Chr19:54129143 [GRCh38] Chr19:54632518 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.3(PRPF31):c.(238+1_239-1)_(420+1_421-1)dup |
duplication |
Retinitis pigmentosa [RCV000787753] |
|
pathogenic |
NM_015629.4(PRPF31):c.855+1G>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000787657] |
Chr19:54124657 [GRCh38] Chr19:54628036 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.594C>T (p.Asn198=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001131699]|not provided [RCV002070538] |
Chr19:54123815 [GRCh38] Chr19:54627194 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.-9+3G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV001132609] |
Chr19:54115800 [GRCh38] Chr19:54619180 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.945+4A>G |
single nucleotide variant |
Retinitis pigmentosa [RCV001132714] |
Chr19:54126621 [GRCh38] Chr19:54629996 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.*190T>C |
single nucleotide variant |
Retinitis pigmentosa [RCV001129146] |
Chr19:54131622 [GRCh38] Chr19:54635053 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.*151C>A |
single nucleotide variant |
Retinitis pigmentosa [RCV001129145] |
Chr19:54131583 [GRCh38] Chr19:54635014 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1067_1073+8del |
deletion |
Retinitis pigmentosa [RCV001199513] |
Chr19:54128193..54128207 [GRCh38] Chr19:54631568..54631582 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.245_246del (p.Gly82fs) |
deletion |
Retinitis pigmentosa [RCV001249885] |
Chr19:54121866..54121867 [GRCh38] Chr19:54625245..54625246 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.539C>A (p.Ser180Ter) |
single nucleotide variant |
Retinitis pigmentosa [RCV001199738] |
Chr19:54123760 [GRCh38] Chr19:54627139 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1118_1127del (p.Lys373fs) |
deletion |
Retinitis pigmentosa [RCV001199731] |
Chr19:54128348..54128357 [GRCh38] Chr19:54631723..54631732 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.976C>T (p.Arg326Cys) |
single nucleotide variant |
Retinitis pigmentosa [RCV001132715]|not provided [RCV001856713] |
Chr19:54128103 [GRCh38] Chr19:54631478 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.421-9C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001129017]|not provided [RCV002070502] |
Chr19:54123445 [GRCh38] Chr19:54626824 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.504C>T (p.Ser168=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001129019] |
Chr19:54123537 [GRCh38] Chr19:54626916 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.509C>T (p.Thr170Ile) |
single nucleotide variant |
Retinitis pigmentosa [RCV001129020] |
Chr19:54123542 [GRCh38] Chr19:54626921 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.557G>A (p.Arg186Gln) |
single nucleotide variant |
Retinitis pigmentosa [RCV001129023]|not provided [RCV001856684] |
Chr19:54123778 [GRCh38] Chr19:54627157 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.96_102del (p.Ile32fs) |
deletion |
Retinitis pigmentosa [RCV001199511] |
Chr19:54118371..54118377 [GRCh38] Chr19:54621751..54621757 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.323-111C>T |
single nucleotide variant |
not provided [RCV001649975] |
Chr19:54122386 [GRCh38] Chr19:54625765 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.1074-2A>T |
single nucleotide variant |
not provided [RCV001092518] |
Chr19:54128303 [GRCh38] Chr19:54631678 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.953_959del (p.Gly317_Tyr318insTer) |
deletion |
Retinitis pigmentosa [RCV001199509] |
Chr19:54128078..54128084 [GRCh38] Chr19:54631453..54631459 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1074-2A>G |
single nucleotide variant |
Retinitis pigmentosa [RCV001199514]|not provided [RCV002279705] |
Chr19:54128303 [GRCh38] Chr19:54631678 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1107_1124del (p.Glu370_Ala375del) |
deletion |
not provided [RCV000997010] |
Chr19:54128337..54128354 [GRCh38] Chr19:54631712..54631729 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.33C>T (p.Leu11=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001132610] |
Chr19:54118311 [GRCh38] Chr19:54621691 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.757G>A (p.Gly253Arg) |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV001197522]|not provided [RCV001876281] |
Chr19:54124558 [GRCh38] Chr19:54627937 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic|uncertain significance |
NM_015629.4(PRPF31):c.*9G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV001136119] |
Chr19:54131441 [GRCh38] Chr19:54634872 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.178-1G>A |
single nucleotide variant |
not provided [RCV001579635] |
Chr19:54118572 [GRCh38] Chr19:54621952 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1074-8_1074-7del |
deletion |
not provided [RCV001573047] |
Chr19:54128297..54128298 [GRCh38] Chr19:54631672..54631673 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.855+40G>A |
single nucleotide variant |
not provided [RCV001688502] |
Chr19:54124696 [GRCh38] Chr19:54628075 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.420+82= |
single nucleotide variant |
not provided [RCV001619500] |
Chr19:54122676 [GRCh38] Chr19:54626055 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.358_359del (p.Lys120fs) |
deletion |
not provided [RCV001682650] |
Chr19:54122531..54122532 [GRCh38] Chr19:54625910..54625911 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.946-67G>A |
single nucleotide variant |
not provided [RCV001718346] |
Chr19:54128006 [GRCh38] Chr19:54631381 [GRCh37] Chr19:19q13.42 |
benign |
GRCh37/hg19 19q13.42(chr19:54474844-55181741)x3 |
copy number gain |
not provided [RCV001007058] |
Chr19:54474844..55181741 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.*63G>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001129144] |
Chr19:54131495 [GRCh38] Chr19:54634926 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.856-3C>G |
single nucleotide variant |
not provided [RCV001091276] |
Chr19:54126525 [GRCh38] Chr19:54629900 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.429C>T (p.Gly143=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001129018]|not provided [RCV003769237] |
Chr19:54123462 [GRCh38] Chr19:54626841 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.510C>T (p.Thr170=) |
single nucleotide variant |
Retinal dystrophy [RCV003890277]|Retinitis pigmentosa [RCV001129021]|not provided [RCV001425060] |
Chr19:54123543 [GRCh38] Chr19:54626922 [GRCh37] Chr19:19q13.42 |
benign|likely benign|uncertain significance |
NM_015629.4(PRPF31):c.1110_1117dup (p.Lys373fs) |
duplication |
not provided [RCV001092519] |
Chr19:54128336..54128337 [GRCh38] Chr19:54631711..54631712 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.420+81T>C |
single nucleotide variant |
not provided [RCV001652673] |
Chr19:54122675 [GRCh38] Chr19:54626054 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.1108G>T (p.Glu370Ter) |
single nucleotide variant |
Retinitis pigmentosa [RCV001003132]|not provided [RCV003769394] |
Chr19:54128339 [GRCh38] Chr19:54631714 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) |
single nucleotide variant |
Retinitis pigmentosa [RCV001724808]|not provided [RCV001859436] |
Chr19:54129075 [GRCh38] Chr19:54632450 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.1095del (p.Leu366fs) |
deletion |
Retinitis pigmentosa [RCV001724809] |
Chr19:54128325 [GRCh38] Chr19:54631700 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.917A>C (p.Asp306Ala) |
single nucleotide variant |
not provided [RCV001699890] |
Chr19:54126589 [GRCh38] Chr19:54629964 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.178-2A>G |
single nucleotide variant |
Retinitis pigmentosa [RCV001199512] |
Chr19:54118571 [GRCh38] Chr19:54621951 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.748del (p.Met250fs) |
deletion |
Retinal dystrophy [RCV001073552] |
Chr19:54124549 [GRCh38] Chr19:54627928 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1034C>T (p.Ala345Val) |
single nucleotide variant |
Retinal dystrophy [RCV001073696]|not provided [RCV002554674] |
Chr19:54128161 [GRCh38] Chr19:54631536 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.736G>T (p.Ala246Ser) |
single nucleotide variant |
Retinal dystrophy [RCV001073724] |
Chr19:54124537 [GRCh38] Chr19:54627916 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.176_177insTA (p.Met59fs) |
insertion |
Retinitis pigmentosa [RCV001199734] |
Chr19:54118454..54118455 [GRCh38] Chr19:54621834..54621835 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.698-1G>A |
single nucleotide variant |
Retinal dystrophy [RCV001074295]|not provided [RCV001091275] |
Chr19:54124498 [GRCh38] Chr19:54627877 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.239-1G>A |
single nucleotide variant |
Retinal dystrophy [RCV001074296]|Retinitis pigmentosa 11 [RCV001376221]|not provided [RCV001862823] |
Chr19:54121859 [GRCh38] Chr19:54625238 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.330_333del (p.His111fs) |
deletion |
Retinal dystrophy [RCV001074826]|not provided [RCV001862576] |
Chr19:54122501..54122504 [GRCh38] Chr19:54625880..54625883 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.654C>A (p.Asn218Lys) |
single nucleotide variant |
Retinal dystrophy [RCV001075127] |
Chr19:54123875 [GRCh38] Chr19:54627254 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1239C>T (p.Asn413=) |
single nucleotide variant |
Retinal dystrophy [RCV003890280]|Retinitis pigmentosa [RCV001136117]|not provided [RCV002556895] |
Chr19:54129149 [GRCh38] Chr19:54632524 [GRCh37] Chr19:19q13.42 |
benign|likely benign|uncertain significance |
NM_015629.4(PRPF31):c.183dup (p.Glu62Ter) |
duplication |
Retinal dystrophy [RCV001075682] |
Chr19:54118577..54118578 [GRCh38] Chr19:54621957..54621958 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1141G>T (p.Gly381Ter) |
single nucleotide variant |
Retinitis pigmentosa [RCV001199732] |
Chr19:54128372 [GRCh38] Chr19:54631747 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.821T>C (p.Ile274Thr) |
single nucleotide variant |
Retinitis pigmentosa [RCV001249886]|not provided [RCV001879768] |
Chr19:54124622 [GRCh38] Chr19:54628001 [GRCh37] Chr19:19q13.42 |
likely pathogenic|uncertain significance |
NM_015629.4(PRPF31):c.935C>T (p.Thr312Ile) |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV001002402]|not provided [RCV001860515] |
Chr19:54126607 [GRCh38] Chr19:54629982 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.582G>A (p.Ala194=) |
single nucleotide variant |
PRPF31-related condition [RCV003928730]|Retinitis pigmentosa [RCV001131698]|not provided [RCV002070537] |
Chr19:54123803 [GRCh38] Chr19:54627182 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.921T>C (p.Ser307=) |
single nucleotide variant |
Retinitis pigmentosa [RCV001131701]|not provided [RCV002070539] |
Chr19:54126593 [GRCh38] Chr19:54629968 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.946-1G>C |
single nucleotide variant |
not provided [RCV001200420] |
Chr19:54128072 [GRCh38] Chr19:54631447 [GRCh37] Chr19:19q13.42 |
pathogenic |
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) |
copy number gain |
not provided [RCV001249294] |
Chr19:47939842..54626871 [GRCh37] Chr19:19q13.32-13.42 |
not provided |
NM_015629.4(PRPF31):c.954_955dup (p.Glu319fs) |
duplication |
Retinitis pigmentosa [RCV001199510] |
Chr19:54128080..54128081 [GRCh38] Chr19:54631455..54631456 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.371_375del (p.Glu124fs) |
deletion |
Retinitis pigmentosa [RCV001199736]|not provided [RCV002551710] |
Chr19:54122542..54122546 [GRCh38] Chr19:54625921..54625925 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.466C>T (p.Gln156Ter) |
single nucleotide variant |
not provided [RCV001091274] |
Chr19:54123499 [GRCh38] Chr19:54626878 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) |
single nucleotide variant |
PRPF31-related condition [RCV003906174]|Retinal dystrophy [RCV001073622]|Retinitis pigmentosa 11 [RCV002497486]|Retinitis pigmentosa [RCV001724229]|not provided [RCV001381238] |
Chr19:54126567 [GRCh38] Chr19:54629942 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.-6C>A |
single nucleotide variant |
Retinal dystrophy [RCV001073744] |
Chr19:54118273 [GRCh38] Chr19:54621653 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.421-2A>C |
single nucleotide variant |
Retinal dystrophy [RCV001073925]|not provided [RCV001862811] |
Chr19:54123452 [GRCh38] Chr19:54626831 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.239-1G>T |
single nucleotide variant |
Retinal dystrophy [RCV001073949]|Retinitis pigmentosa 11 [RCV002497488] |
Chr19:54121859 [GRCh38] Chr19:54625238 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001074012]|not provided [RCV001092517] |
Chr19:54128175 [GRCh38] Chr19:54631550 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.689del (p.Lys230fs) |
deletion |
Retinitis pigmentosa [RCV001003130] |
Chr19:54123909 [GRCh38] Chr19:54627288 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.821T>G (p.Ile274Ser) |
single nucleotide variant |
Retinal dystrophy [RCV001074518]|not provided [RCV001862830] |
Chr19:54124622 [GRCh38] Chr19:54628001 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.605dup (p.His202fs) |
duplication |
Retinal dystrophy [RCV001075077] |
Chr19:54123825..54123826 [GRCh38] Chr19:54627204..54627205 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.177+4A>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001135992]|not provided [RCV002556892] |
Chr19:54118459 [GRCh38] Chr19:54621839 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.1084del (p.Lys361_Met362insTer) |
deletion |
Retinal dystrophy [RCV001075755]|not provided [RCV001862632] |
Chr19:54128315 [GRCh38] Chr19:54631690 [GRCh37] Chr19:19q13.42 |
pathogenic |
GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3 |
copy number gain |
not provided [RCV001259948] |
Chr19:54334195..56434037 [GRCh37] Chr19:19q13.42-13.43 |
uncertain significance |
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 |
copy number gain |
not provided [RCV001259944] |
Chr19:48463931..57095254 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
NM_015629.4(PRPF31):c.946-2A>C |
single nucleotide variant |
not provided [RCV001268739] |
Chr19:54128071 [GRCh38] Chr19:54631446 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1146+2T>G |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV001376352]|not provided [RCV001268814] |
Chr19:54128379 [GRCh38] Chr19:54631754 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_015629.4(PRPF31):c.414G>A (p.Thr138=) |
single nucleotide variant |
Retinal dystrophy [RCV003888302]|not provided [RCV001531305] |
Chr19:54122588 [GRCh38] Chr19:54625967 [GRCh37] Chr19:19q13.42 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_015629.4(PRPF31):c.217A>T (p.Lys73Ter) |
single nucleotide variant |
not provided [RCV001268709] |
Chr19:54118612 [GRCh38] Chr19:54621992 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.946-72G>T |
single nucleotide variant |
not provided [RCV001536455] |
Chr19:54128001 [GRCh38] Chr19:54631376 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.395del (p.Ala132fs) |
deletion |
not provided [RCV001291621] |
Chr19:54122569 [GRCh38] Chr19:54625948 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.752T>C (p.Leu251Pro) |
single nucleotide variant |
not provided [RCV001342861] |
Chr19:54124553 [GRCh38] Chr19:54627932 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.633del (p.Met212fs) |
deletion |
Retinitis pigmentosa 11 [RCV001376353] |
Chr19:54123853 [GRCh38] Chr19:54627232 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.238+1_238+7del |
deletion |
Retinitis pigmentosa 11 [RCV001376355] |
Chr19:54118634..54118640 [GRCh38] Chr19:54622014..54622020 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.541_551GAG[3]CTCCGAGGAGGAGCT[1] (p.Glu185fs) |
microsatellite |
Retinitis pigmentosa 11 [RCV001376222] |
Chr19:54123761..54123762 [GRCh38] Chr19:54627140..54627141 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.140C>A (p.Ser47Ter) |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV001280917] |
Chr19:54118418 [GRCh38] Chr19:54621798 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1243G>A (p.Ala415Thr) |
single nucleotide variant |
not provided [RCV001368251] |
Chr19:54129153 [GRCh38] Chr19:54632528 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.523C>T (p.Gln175Ter) |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV001376265]|not provided [RCV001871984] |
Chr19:54123556 [GRCh38] Chr19:54626935 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.1276-2del |
deletion |
Retinitis pigmentosa 11 [RCV001376423] |
Chr19:54129270 [GRCh38] Chr19:54632645 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.66_79dup (p.Glu27fs) |
duplication |
Retinitis pigmentosa 11 [RCV001376476] |
Chr19:54118335..54118336 [GRCh38] Chr19:54621715..54621716 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.392A>G (p.Asn131Ser) |
single nucleotide variant |
not provided [RCV001372812] |
Chr19:54122566 [GRCh38] Chr19:54625945 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.855+5G>A |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV001376536]|not provided [RCV001865906] |
Chr19:54124661 [GRCh38] Chr19:54628040 [GRCh37] Chr19:19q13.42 |
pathogenic|uncertain significance |
NM_015629.4(PRPF31):c.136del (p.Asp46fs) |
deletion |
Retinitis pigmentosa 11 [RCV001376223] |
Chr19:54118411 [GRCh38] Chr19:54621791 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1212_1221del (p.Val407fs) |
deletion |
Retinitis pigmentosa 11 [RCV001376224] |
Chr19:54129121..54129130 [GRCh38] Chr19:54632496..54632505 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.893A>G (p.Lys298Arg) |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV001376235] |
Chr19:54126565 [GRCh38] Chr19:54629940 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1374+17G>A |
single nucleotide variant |
not provided [RCV001343830] |
Chr19:54129387 [GRCh38] Chr19:54632762 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.681G>A (p.Thr227=) |
single nucleotide variant |
not provided [RCV001368825] |
Chr19:54123902 [GRCh38] Chr19:54627281 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.877C>T (p.Arg293Trp) |
single nucleotide variant |
not provided [RCV001309069] |
Chr19:54126549 [GRCh38] Chr19:54629924 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.194T>A (p.Met65Lys) |
single nucleotide variant |
not provided [RCV001370963] |
Chr19:54118589 [GRCh38] Chr19:54621969 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1461C>G (p.Leu487=) |
single nucleotide variant |
not provided [RCV001519867] |
Chr19:54131393 [GRCh38] Chr19:54634824 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.945+8G>A |
single nucleotide variant |
not provided [RCV001519869] |
Chr19:54126625 [GRCh38] Chr19:54630000 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.915G>A (p.Val305=) |
single nucleotide variant |
not provided [RCV001513430] |
Chr19:54126587 [GRCh38] Chr19:54629962 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.1275+13C>T |
single nucleotide variant |
not provided [RCV001487442] |
Chr19:54129198 [GRCh38] Chr19:54632573 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.309C>T (p.Ile103=) |
single nucleotide variant |
not provided [RCV001472267] |
Chr19:54121930 [GRCh38] Chr19:54625309 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.801G>A (p.Val267=) |
single nucleotide variant |
not provided [RCV001407241] |
Chr19:54124602 [GRCh38] Chr19:54627981 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.797C>A (p.Ser266Ter) |
single nucleotide variant |
not provided [RCV001389902] |
Chr19:54124598 [GRCh38] Chr19:54627977 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1126_1129dup (p.Arg377fs) |
duplication |
not provided [RCV001543507] |
Chr19:54128354..54128355 [GRCh38] Chr19:54631729..54631730 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.946-5C>T |
single nucleotide variant |
not provided [RCV001419665] |
Chr19:54128068 [GRCh38] Chr19:54631443 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1462_1472del (p.Lys488fs) |
deletion |
not provided [RCV001682690] |
Chr19:54131394..54131404 [GRCh38] Chr19:54634825..54634835 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.527+14G>C |
single nucleotide variant |
not provided [RCV001496120] |
Chr19:54123574 [GRCh38] Chr19:54626953 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1147-18G>A |
single nucleotide variant |
not provided [RCV001519870] |
Chr19:54129039 [GRCh38] Chr19:54632414 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.1124C>G (p.Ala375Gly) |
single nucleotide variant |
not provided [RCV001585426] |
Chr19:54128355 [GRCh38] Chr19:54631730 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.-9+1G>A |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV001591825] |
Chr19:54115798 [GRCh38] Chr19:54619178 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.697+11G>A |
single nucleotide variant |
not provided [RCV001451015] |
Chr19:54123929 [GRCh38] Chr19:54627308 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1074-20G>A |
single nucleotide variant |
not provided [RCV001451033] |
Chr19:54128285 [GRCh38] Chr19:54631660 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1131T>A (p.Arg377=) |
single nucleotide variant |
not provided [RCV001424613] |
Chr19:54128362 [GRCh38] Chr19:54631737 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.889G>A (p.Ala297Thr) |
single nucleotide variant |
not provided [RCV001727116] |
Chr19:54126561 [GRCh38] Chr19:54629936 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.325A>G (p.Ile109Val) |
single nucleotide variant |
not provided [RCV001730377] |
Chr19:54122499 [GRCh38] Chr19:54625878 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1325G>A (p.Arg442His) |
single nucleotide variant |
not provided [RCV001765201] |
Chr19:54129321 [GRCh38] Chr19:54632696 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.836T>G (p.Ile279Ser) |
single nucleotide variant |
not provided [RCV001773382] |
Chr19:54124637 [GRCh38] Chr19:54628016 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.267del (p.Glu89fs) |
deletion |
Retinitis pigmentosa 11 [RCV001809203] |
Chr19:54121887 [GRCh38] Chr19:54625266 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.949G>A (p.Gly317Ser) |
single nucleotide variant |
not provided [RCV001815871] |
Chr19:54128076 [GRCh38] Chr19:54631451 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.943A>G (p.Lys315Glu) |
single nucleotide variant |
not provided [RCV002001657] |
Chr19:54126615 [GRCh38] Chr19:54629990 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.244G>T (p.Gly82Ter) |
single nucleotide variant |
not provided [RCV001949663] |
Chr19:54121865 [GRCh38] Chr19:54625244 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.946-8_1069del |
deletion |
not provided [RCV002008510] |
Chr19:54128062..54128193 [GRCh38] Chr19:54631437..54631568 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.23T>G (p.Leu8Ter) |
single nucleotide variant |
not provided [RCV002044904] |
Chr19:54118301 [GRCh38] Chr19:54621681 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.736G>A (p.Ala246Thr) |
single nucleotide variant |
not provided [RCV001875067] |
Chr19:54124537 [GRCh38] Chr19:54627916 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1410G>T (p.Lys470Asn) |
single nucleotide variant |
not provided [RCV002025605] |
Chr19:54131342 [GRCh38] Chr19:54634773 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.177+1del |
deletion |
not provided [RCV001947832] |
Chr19:54118455 [GRCh38] Chr19:54621835 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1121_1137del (p.Gln374fs) |
deletion |
not provided [RCV001913637] |
Chr19:54128349..54128365 [GRCh38] Chr19:54631724..54631740 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1147-5C>A |
single nucleotide variant |
not provided [RCV001873946] |
Chr19:54129052 [GRCh38] Chr19:54632427 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.317del (p.Glu106fs) |
deletion |
not provided [RCV001949651] |
Chr19:54121938 [GRCh38] Chr19:54625317 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.239-3C>G |
single nucleotide variant |
not provided [RCV001966706] |
Chr19:54121857 [GRCh38] Chr19:54625236 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.607C>T (p.Arg203Cys) |
single nucleotide variant |
not provided [RCV001914498] |
Chr19:54123828 [GRCh38] Chr19:54627207 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.773C>T (p.Thr258Met) |
single nucleotide variant |
not provided [RCV001988002] |
Chr19:54124574 [GRCh38] Chr19:54627953 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1146G>T (p.Glu382Asp) |
single nucleotide variant |
not provided [RCV002008823] |
Chr19:54128377 [GRCh38] Chr19:54631752 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.322+16C>T |
single nucleotide variant |
not provided [RCV001864079] |
Chr19:54121959 [GRCh38] Chr19:54625338 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.1156_1295del140insCCCAGATCGCAGCCTCCCTGCAGAAGCAGAGCGTCTTGGAGATCCTGGCCTTGGTGGCCTCGTTTACCTGTGTCTGCCGCACACGCCCACTGCCCGACTTGCCCAGGTGGCCCAGGCTGAATCCCAGGTCCTCCTGGTAGGCGTCCTCCT (p.Asp386_Ser432delinsProArgSerGlnProProCysArgSerArgAlaSerTrpArgSerTrpProTrpTrpProArgLeuProValSerAlaAlaHisAlaHisCysProThrCysProGlyGlyProGlyTer) |
indel |
not provided [RCV001982970] |
Chr19:54129066..54129291 [GRCh38] Chr19:54632441..54632666 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.528-39_531del |
deletion |
Retinitis pigmentosa 11 [RCV002295356]|not provided [RCV001946853] |
Chr19:54123703..54123745 [GRCh38] Chr19:54627082..54627124 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.280G>A (p.Val94Met) |
single nucleotide variant |
not provided [RCV001927047] |
Chr19:54121901 [GRCh38] Chr19:54625280 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.274G>A (p.Val92Ile) |
single nucleotide variant |
not provided [RCV001964754] |
Chr19:54121895 [GRCh38] Chr19:54625274 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.639del (p.Phe214fs) |
deletion |
not provided [RCV001908522] |
Chr19:54123859 [GRCh38] Chr19:54627238 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1205C>T (p.Ser402Leu) |
single nucleotide variant |
not provided [RCV002003076] |
Chr19:54129115 [GRCh38] Chr19:54632490 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.9:g.(?_54625219)_(54632765_?)del |
deletion |
not provided [RCV001982933] |
Chr19:54625219..54632765 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.767G>A (p.Arg256His) |
single nucleotide variant |
not provided [RCV001911601] |
Chr19:54124568 [GRCh38] Chr19:54627947 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.9:g.(?_54621659)_(54632765_?)del |
deletion |
not provided [RCV001893360] |
Chr19:54621659..54632765 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.251T>C (p.Val84Ala) |
single nucleotide variant |
Retinal dystrophy [RCV003888959]|not provided [RCV002002588] |
Chr19:54121872 [GRCh38] Chr19:54625251 [GRCh37] Chr19:19q13.42 |
benign|uncertain significance |
NM_015629.4(PRPF31):c.1337C>T (p.Ser446Leu) |
single nucleotide variant |
not provided [RCV001928305] |
Chr19:54129333 [GRCh38] Chr19:54632708 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1146+5_1146+6del |
deletion |
not provided [RCV001892083]|not specified [RCV002246572] |
Chr19:54128381..54128382 [GRCh38] Chr19:54631756..54631757 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1212del (p.Ser404fs) |
deletion |
not provided [RCV001948176] |
Chr19:54129122 [GRCh38] Chr19:54632497 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.188T>C (p.Ile63Thr) |
single nucleotide variant |
not provided [RCV001947411] |
Chr19:54118583 [GRCh38] Chr19:54621963 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.865C>T (p.Arg289Trp) |
single nucleotide variant |
not provided [RCV001986381] |
Chr19:54126537 [GRCh38] Chr19:54629912 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1216C>G (p.Arg406Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003164218]|not provided [RCV001872839] |
Chr19:54129126 [GRCh38] Chr19:54632501 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.528G>A (p.Gly176=) |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV002272542]|not provided [RCV001968354] |
Chr19:54123749 [GRCh38] Chr19:54627128 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1065C>T (p.Gly355=) |
single nucleotide variant |
not provided [RCV001912816] |
Chr19:54128192 [GRCh38] Chr19:54631567 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.718A>C (p.Asn240His) |
single nucleotide variant |
not provided [RCV001927365] |
Chr19:54124519 [GRCh38] Chr19:54627898 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.455del (p.Asn152fs) |
deletion |
not provided [RCV001928088] |
Chr19:54123487 [GRCh38] Chr19:54626866 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1147-1G>A |
single nucleotide variant |
not provided [RCV002021091] |
Chr19:54129056 [GRCh38] Chr19:54632431 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.413C>G (p.Thr138Arg) |
single nucleotide variant |
not provided [RCV001983734] |
Chr19:54122587 [GRCh38] Chr19:54625966 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.529C>T (p.Gln177Ter) |
single nucleotide variant |
not provided [RCV001999706] |
Chr19:54123750 [GRCh38] Chr19:54627129 [GRCh37] Chr19:19q13.42 |
pathogenic |
NC_000019.9:g.(?_54625718)_(54627260_?)del |
deletion |
not provided [RCV001963301] |
Chr19:54625718..54627260 [GRCh37] Chr19:19q13.42 |
pathogenic |
NC_000019.9:g.(?_54612401)_(54627945_?)del |
deletion |
not provided [RCV001963308] |
Chr19:54612401..54627945 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1118dup (p.Gln374fs) |
duplication |
not provided [RCV001962898] |
Chr19:54128347..54128348 [GRCh38] Chr19:54631722..54631723 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.565G>T (p.Glu189Ter) |
single nucleotide variant |
not provided [RCV001962937] |
Chr19:54123786 [GRCh38] Chr19:54627165 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.349A>T (p.Lys117Ter) |
single nucleotide variant |
not provided [RCV001882084] |
Chr19:54122523 [GRCh38] Chr19:54625902 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.136G>A (p.Asp46Asn) |
single nucleotide variant |
not provided [RCV001887737] |
Chr19:54118414 [GRCh38] Chr19:54621794 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.359dup (p.Arg121fs) |
duplication |
not provided [RCV002037684] |
Chr19:54122530..54122531 [GRCh38] Chr19:54625909..54625910 [GRCh37] Chr19:19q13.42 |
pathogenic |
NC_000019.9:g.(?_54629883)_(54630012_?)del |
deletion |
not provided [RCV001956205] |
Chr19:54629883..54630012 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.323-1G>C |
single nucleotide variant |
Retinal dystrophy [RCV003888348]|not provided [RCV001864700] |
Chr19:54122496 [GRCh38] Chr19:54625875 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.323-2A>G |
single nucleotide variant |
not provided [RCV001902343] |
Chr19:54122495 [GRCh38] Chr19:54625874 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.554A>T (p.Glu185Val) |
single nucleotide variant |
not provided [RCV002031493] |
Chr19:54123775 [GRCh38] Chr19:54627154 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.421-19_421-1del |
deletion |
not provided [RCV002037325] |
Chr19:54123435..54123453 [GRCh38] Chr19:54626814..54626832 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.445dup (p.Cys149fs) |
duplication |
not provided [RCV001999825] |
Chr19:54123477..54123478 [GRCh38] Chr19:54626856..54626857 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.239-8C>A |
single nucleotide variant |
not provided [RCV001941311] |
Chr19:54121852 [GRCh38] Chr19:54625231 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.152_158del (p.Ile51fs) |
deletion |
not provided [RCV001886354] |
Chr19:54118429..54118435 [GRCh38] Chr19:54621809..54621815 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1147-2A>G |
single nucleotide variant |
not provided [RCV002000051] |
Chr19:54129055 [GRCh38] Chr19:54632430 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.902T>C (p.Leu301Pro) |
single nucleotide variant |
not provided [RCV001960096] |
Chr19:54126574 [GRCh38] Chr19:54629949 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.946G>C (p.Val316Leu) |
single nucleotide variant |
not provided [RCV001886969] |
Chr19:54128073 [GRCh38] Chr19:54631448 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1235T>C (p.Val412Ala) |
single nucleotide variant |
not provided [RCV001906293] |
Chr19:54129145 [GRCh38] Chr19:54632520 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1004C>T (p.Pro335Leu) |
single nucleotide variant |
not provided [RCV002020178] |
Chr19:54128131 [GRCh38] Chr19:54631506 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.9:g.(?_54621004)_(54625231_?)del |
deletion |
not provided [RCV001877267] |
Chr19:54621004..54625231 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1114C>T (p.Arg372Trp) |
single nucleotide variant |
not provided [RCV001976378] |
Chr19:54128345 [GRCh38] Chr19:54631720 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1067del (p.Gly356fs) |
deletion |
not provided [RCV001921740] |
Chr19:54128193 [GRCh38] Chr19:54631568 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.220C>G (p.Gln74Glu) |
single nucleotide variant |
not provided [RCV001899162] |
Chr19:54118615 [GRCh38] Chr19:54621995 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.828_829del (p.His276fs) |
microsatellite |
not provided [RCV001921192] |
Chr19:54124627..54124628 [GRCh38] Chr19:54628006..54628007 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.113A>C (p.Glu38Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003250404]|not provided [RCV002010383] |
Chr19:54118391 [GRCh38] Chr19:54621771 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1430_1431delinsCA (p.Gln477Pro) |
indel |
not provided [RCV002046949] |
Chr19:54131362..54131363 [GRCh38] Chr19:54634793..54634794 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1127_1133del (p.Asn376fs) |
deletion |
not provided [RCV001951843] |
Chr19:54128358..54128364 [GRCh38] Chr19:54631733..54631739 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.878G>A (p.Arg293Gln) |
single nucleotide variant |
not provided [RCV001900527] |
Chr19:54126550 [GRCh38] Chr19:54629925 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.528-1G>A |
single nucleotide variant |
not provided [RCV001935280] |
Chr19:54123748 [GRCh38] Chr19:54627127 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.866_879del (p.Arg289fs) |
deletion |
not provided [RCV001876502] |
Chr19:54126538..54126551 [GRCh38] Chr19:54629913..54629926 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.442A>G (p.Lys148Glu) |
single nucleotide variant |
not provided [RCV001900863] |
Chr19:54123475 [GRCh38] Chr19:54626854 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1153G>T (p.Glu385Ter) |
single nucleotide variant |
not provided [RCV001931666] |
Chr19:54129063 [GRCh38] Chr19:54632438 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1193del (p.His398fs) |
deletion |
not provided [RCV001877886] |
Chr19:54129103 [GRCh38] Chr19:54632478 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.415del (p.Val139fs) |
deletion |
not provided [RCV001954877] |
Chr19:54122588 [GRCh38] Chr19:54625967 [GRCh37] Chr19:19q13.42 |
pathogenic |
NC_000019.9:g.(?_54625219)_(54632765_?)dup |
duplication |
not provided [RCV002046081] |
Chr19:54625219..54632765 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.271C>T (p.Arg91Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002545545]|not provided [RCV002016505] |
Chr19:54121892 [GRCh38] Chr19:54625271 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.563AGG[1] (p.Glu189del) |
microsatellite |
not provided [RCV001915956] |
Chr19:54123782..54123784 [GRCh38] Chr19:54627161..54627163 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.511G>A (p.Ala171Thr) |
single nucleotide variant |
not provided [RCV001990606] |
Chr19:54123544 [GRCh38] Chr19:54626923 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.9:g.(?_54621659)_(54622033_?)del |
deletion |
not provided [RCV001956206] |
Chr19:54621659..54622033 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.682G>C (p.Ala228Pro) |
single nucleotide variant |
not provided [RCV001916085] |
Chr19:54123903 [GRCh38] Chr19:54627282 [GRCh37] Chr19:19q13.42 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_015629.4(PRPF31):c.616G>T (p.Glu206Ter) |
single nucleotide variant |
not provided [RCV001935598] |
Chr19:54123837 [GRCh38] Chr19:54627216 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.923dup (p.His309fs) |
duplication |
not provided [RCV001956217] |
Chr19:54126592..54126593 [GRCh38] Chr19:54629967..54629968 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.829A>C (p.Ser277Arg) |
single nucleotide variant |
not provided [RCV001877169] |
Chr19:54124630 [GRCh38] Chr19:54628009 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.9:g.(?_54621659)_(54634863_?)del |
deletion |
not provided [RCV001972410] |
Chr19:54621659..54634863 [GRCh37] Chr19:19q13.42 |
pathogenic |
NC_000019.9:g.(?_54625743)_(54626193_?)del |
deletion |
not provided [RCV001951473] |
Chr19:54625743..54626193 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1118_1143del (p.Lys373fs) |
deletion |
not provided [RCV001925011] |
Chr19:54128345..54128370 [GRCh38] Chr19:54631720..54631745 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.247C>G (p.Pro83Ala) |
single nucleotide variant |
not provided [RCV001901823] |
Chr19:54121868 [GRCh38] Chr19:54625247 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.863G>A (p.Arg288Gln) |
single nucleotide variant |
not provided [RCV002019962] |
Chr19:54126535 [GRCh38] Chr19:54629910 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.256_268del (p.Ala86fs) |
deletion |
not provided [RCV001886412] |
Chr19:54121877..54121889 [GRCh38] Chr19:54625256..54625268 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.886GCC[1] (p.Ala297del) |
microsatellite |
not provided [RCV001878975] |
Chr19:54126558..54126560 [GRCh38] Chr19:54629933..54629935 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.716C>T (p.Thr239Ile) |
single nucleotide variant |
not provided [RCV001978794] |
Chr19:54124517 [GRCh38] Chr19:54627896 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.505G>A (p.Val169Ile) |
single nucleotide variant |
not provided [RCV001883356] |
Chr19:54123538 [GRCh38] Chr19:54626917 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.911G>A (p.Arg304His) |
single nucleotide variant |
not provided [RCV001996024] |
Chr19:54126583 [GRCh38] Chr19:54629958 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.343del (p.Arg115fs) |
deletion |
not provided [RCV001937592] |
Chr19:54122516 [GRCh38] Chr19:54625895 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1132A>T (p.Met378Leu) |
single nucleotide variant |
not provided [RCV001904333] |
Chr19:54128363 [GRCh38] Chr19:54631738 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.272G>A (p.Arg91His) |
single nucleotide variant |
Retinal dystrophy [RCV003888989]|not provided [RCV001996219] |
Chr19:54121893 [GRCh38] Chr19:54625272 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1201A>T (p.Lys401Ter) |
single nucleotide variant |
not provided [RCV001960677] |
Chr19:54129111 [GRCh38] Chr19:54632486 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.670G>A (p.Gly224Arg) |
single nucleotide variant |
not provided [RCV001916083] |
Chr19:54123891 [GRCh38] Chr19:54627270 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.856-2A>G |
single nucleotide variant |
not provided [RCV001870218] |
Chr19:54126526 [GRCh38] Chr19:54629901 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.698-12_702del |
deletion |
not provided [RCV002015919] |
Chr19:54124487..54124503 [GRCh38] Chr19:54627866..54627882 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.928G>A (p.Glu310Lys) |
single nucleotide variant |
not provided [RCV002011457] |
Chr19:54126600 [GRCh38] Chr19:54629975 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.9:g.(?_54621659)_(54630012_?)del |
deletion |
not provided [RCV001975104] |
Chr19:54621659..54630012 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.260C>T (p.Ala87Val) |
single nucleotide variant |
not provided [RCV002028678] |
Chr19:54121881 [GRCh38] Chr19:54625260 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.421-1G>A |
single nucleotide variant |
not provided [RCV001902338] |
Chr19:54123453 [GRCh38] Chr19:54626832 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.417C>A (p.Val139=) |
single nucleotide variant |
not provided [RCV001881853] |
Chr19:54122591 [GRCh38] Chr19:54625970 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.971T>A (p.Ile324Asn) |
single nucleotide variant |
not provided [RCV001990655] |
Chr19:54128098 [GRCh38] Chr19:54631473 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.549_553del (p.Leu184fs) |
deletion |
not provided [RCV001867767] |
Chr19:54123770..54123774 [GRCh38] Chr19:54627149..54627153 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1275+6G>A |
single nucleotide variant |
not provided [RCV002035785] |
Chr19:54129191 [GRCh38] Chr19:54632566 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.9:g.(?_54297303)_(55678016_?)dup |
duplication |
not provided [RCV001981426] |
Chr19:54297303..55678016 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.985G>A (p.Asp329Asn) |
single nucleotide variant |
not provided [RCV001998012] |
Chr19:54128112 [GRCh38] Chr19:54631487 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.789G>A (p.Ser263=) |
single nucleotide variant |
not provided [RCV001864788] |
Chr19:54124590 [GRCh38] Chr19:54627969 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.463C>G (p.Leu155Val) |
single nucleotide variant |
not provided [RCV002031553] |
Chr19:54123496 [GRCh38] Chr19:54626875 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1256G>A (p.Arg419Lys) |
single nucleotide variant |
not provided [RCV001930390] |
Chr19:54129166 [GRCh38] Chr19:54632541 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.421-1G>T |
single nucleotide variant |
not provided [RCV001994843] |
Chr19:54123453 [GRCh38] Chr19:54626832 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.583C>G (p.Leu195Val) |
single nucleotide variant |
not provided [RCV001975907] |
Chr19:54123804 [GRCh38] Chr19:54627183 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.390del (p.Asn131fs) |
deletion |
not provided [RCV001951311] |
Chr19:54122561 [GRCh38] Chr19:54625940 [GRCh37] Chr19:19q13.42 |
pathogenic |
NC_000019.9:g.(?_54625219)_(54634863_?)del |
deletion |
not provided [RCV001951324] |
Chr19:54625219..54634863 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.2T>A (p.Met1Lys) |
single nucleotide variant |
not provided [RCV001956106] |
Chr19:54118280 [GRCh38] Chr19:54621660 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.805C>G (p.Pro269Ala) |
single nucleotide variant |
not provided [RCV001996373] |
Chr19:54124606 [GRCh38] Chr19:54627985 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1122G>A (p.Gln374=) |
single nucleotide variant |
not provided [RCV002127496] |
Chr19:54128353 [GRCh38] Chr19:54631728 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.1186C>T (p.Leu396=) |
single nucleotide variant |
not provided [RCV002168386] |
Chr19:54129096 [GRCh38] Chr19:54632471 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.966T>C (p.Asp322=) |
single nucleotide variant |
not provided [RCV002086920] |
Chr19:54128093 [GRCh38] Chr19:54631468 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1149C>T (p.Ile383=) |
single nucleotide variant |
Retinal dystrophy [RCV003889077]|not provided [RCV002126656] |
Chr19:54129059 [GRCh38] Chr19:54632434 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.528-9C>T |
single nucleotide variant |
not provided [RCV002191851] |
Chr19:54123740 [GRCh38] Chr19:54627119 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.946-12C>T |
single nucleotide variant |
not provided [RCV002126723] |
Chr19:54128061 [GRCh38] Chr19:54631436 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.684C>T (p.Ala228=) |
single nucleotide variant |
PRPF31-related condition [RCV003903511]|Retinal dystrophy [RCV003889072]|not provided [RCV002130454] |
Chr19:54123905 [GRCh38] Chr19:54627284 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.178-19G>C |
single nucleotide variant |
not provided [RCV002128751] |
Chr19:54118554 [GRCh38] Chr19:54621934 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.414G>C (p.Thr138=) |
single nucleotide variant |
not provided [RCV002190954] |
Chr19:54122588 [GRCh38] Chr19:54625967 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.282G>C (p.Val94=) |
single nucleotide variant |
not provided [RCV002145659] |
Chr19:54121903 [GRCh38] Chr19:54625282 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1073+16G>T |
single nucleotide variant |
not provided [RCV002206496] |
Chr19:54128216 [GRCh38] Chr19:54631591 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1374+15C>T |
single nucleotide variant |
not provided [RCV002109270] |
Chr19:54129385 [GRCh38] Chr19:54632760 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.946-11G>A |
single nucleotide variant |
not provided [RCV002187535] |
Chr19:54128062 [GRCh38] Chr19:54631437 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1276-15C>T |
single nucleotide variant |
not provided [RCV002144696] |
Chr19:54129257 [GRCh38] Chr19:54632632 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1098G>C (p.Leu366=) |
single nucleotide variant |
Retinal dystrophy [RCV003889050]|not provided [RCV002129355] |
Chr19:54128329 [GRCh38] Chr19:54631704 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.859C>T (p.Leu287=) |
single nucleotide variant |
not provided [RCV002167716] |
Chr19:54126531 [GRCh38] Chr19:54629906 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.954C>T (p.Tyr318=) |
single nucleotide variant |
PRPF31-related condition [RCV003903513]|not provided [RCV002124564] |
Chr19:54128081 [GRCh38] Chr19:54631456 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1146+16C>T |
single nucleotide variant |
not provided [RCV002131258] |
Chr19:54128393 [GRCh38] Chr19:54631768 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1073+20C>T |
single nucleotide variant |
not provided [RCV002114799] |
Chr19:54128220 [GRCh38] Chr19:54631595 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.323-11G>A |
single nucleotide variant |
not provided [RCV002132884] |
Chr19:54122486 [GRCh38] Chr19:54625865 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.456T>C (p.Asn152=) |
single nucleotide variant |
not provided [RCV002116553] |
Chr19:54123489 [GRCh38] Chr19:54626868 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1299C>T (p.Val433=) |
single nucleotide variant |
not provided [RCV002153714] |
Chr19:54129295 [GRCh38] Chr19:54632670 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1374+16C>T |
single nucleotide variant |
not provided [RCV002174410] |
Chr19:54129386 [GRCh38] Chr19:54632761 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.946-23_946-13del |
deletion |
not provided [RCV002169630] |
Chr19:54128050..54128060 [GRCh38] Chr19:54631425..54631435 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.552G>A (p.Leu184=) |
single nucleotide variant |
PRPF31-related condition [RCV003903526]|not provided [RCV002131174] |
Chr19:54123773 [GRCh38] Chr19:54627152 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.855+9A>G |
single nucleotide variant |
not provided [RCV002113912] |
Chr19:54124665 [GRCh38] Chr19:54628044 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1276-17C>T |
single nucleotide variant |
not provided [RCV002168165] |
Chr19:54129255 [GRCh38] Chr19:54632630 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.201T>C (p.Ile67=) |
single nucleotide variant |
not provided [RCV002197199] |
Chr19:54118596 [GRCh38] Chr19:54621976 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.705C>T (p.Ala235=) |
single nucleotide variant |
not provided [RCV002085962] |
Chr19:54124506 [GRCh38] Chr19:54627885 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.698-16C>T |
single nucleotide variant |
not provided [RCV002089809] |
Chr19:54124483 [GRCh38] Chr19:54627862 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.655C>A (p.Leu219Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003070597]|not provided [RCV002114608] |
Chr19:54123876 [GRCh38] Chr19:54627255 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.1146+17G>A |
single nucleotide variant |
not provided [RCV002133268] |
Chr19:54128394 [GRCh38] Chr19:54631769 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1326C>T (p.Arg442=) |
single nucleotide variant |
not provided [RCV002196145] |
Chr19:54129322 [GRCh38] Chr19:54632697 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1147-5C>T |
single nucleotide variant |
not provided [RCV002193175] |
Chr19:54129052 [GRCh38] Chr19:54632427 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1401G>A (p.Ala467=) |
single nucleotide variant |
not provided [RCV002169535] |
Chr19:54131333 [GRCh38] Chr19:54634764 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.322+14G>A |
single nucleotide variant |
not provided [RCV002187750] |
Chr19:54121957 [GRCh38] Chr19:54625336 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1276-6C>T |
single nucleotide variant |
not provided [RCV002215639] |
Chr19:54129266 [GRCh38] Chr19:54632641 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.420+7G>C |
single nucleotide variant |
not provided [RCV002212920] |
Chr19:54122601 [GRCh38] Chr19:54625980 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1002G>A (p.Pro334=) |
single nucleotide variant |
not provided [RCV002139854] |
Chr19:54128129 [GRCh38] Chr19:54631504 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.645C>T (p.Ile215=) |
single nucleotide variant |
not provided [RCV002158333] |
Chr19:54123866 [GRCh38] Chr19:54627245 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1147-20G>A |
single nucleotide variant |
not provided [RCV002179606] |
Chr19:54129037 [GRCh38] Chr19:54632412 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.462C>T (p.Asn154=) |
single nucleotide variant |
not provided [RCV002138445] |
Chr19:54123495 [GRCh38] Chr19:54626874 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.756C>T (p.Leu252=) |
single nucleotide variant |
not provided [RCV002155809] |
Chr19:54124557 [GRCh38] Chr19:54627936 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.382T>C (p.Leu128=) |
single nucleotide variant |
not provided [RCV002140948] |
Chr19:54122556 [GRCh38] Chr19:54625935 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.205del (p.Glu69fs) |
deletion |
Retinitis pigmentosa 11 [RCV002250266] |
Chr19:54118599 [GRCh38] Chr19:54621979 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1023G>A (p.Lys341=) |
single nucleotide variant |
not provided [RCV002154124] |
Chr19:54128150 [GRCh38] Chr19:54631525 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.855+13C>T |
single nucleotide variant |
not provided [RCV002143092] |
Chr19:54124669 [GRCh38] Chr19:54628048 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.856-17G>A |
single nucleotide variant |
not provided [RCV002204051] |
Chr19:54126511 [GRCh38] Chr19:54629886 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.261G>A (p.Ala87=) |
single nucleotide variant |
not provided [RCV002136125] |
Chr19:54121882 [GRCh38] Chr19:54625261 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.708C>T (p.Gly236=) |
single nucleotide variant |
PRPF31-related condition [RCV003960887]|not provided [RCV002163830] |
Chr19:54124509 [GRCh38] Chr19:54627888 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1248C>G (p.Thr416=) |
single nucleotide variant |
not provided [RCV002138152] |
Chr19:54129158 [GRCh38] Chr19:54632533 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1158C>T (p.Asp386=) |
single nucleotide variant |
Retinal dystrophy [RCV003889083]|not provided [RCV002143621] |
Chr19:54129068 [GRCh38] Chr19:54632443 [GRCh37] Chr19:19q13.42 |
benign|likely benign |
NM_015629.4(PRPF31):c.698-5C>T |
single nucleotide variant |
not provided [RCV002082321] |
Chr19:54124494 [GRCh38] Chr19:54627873 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1147-6C>G |
single nucleotide variant |
not provided [RCV002183960] |
Chr19:54129051 [GRCh38] Chr19:54632426 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.1026G>A (p.Pro342=) |
single nucleotide variant |
Retinal dystrophy [RCV003889091]|not provided [RCV002164271] |
Chr19:54128153 [GRCh38] Chr19:54631528 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.698-18C>T |
single nucleotide variant |
not provided [RCV002159045] |
Chr19:54124481 [GRCh38] Chr19:54627860 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.856-18C>T |
single nucleotide variant |
not provided [RCV002164450] |
Chr19:54126510 [GRCh38] Chr19:54629885 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.177+18G>C |
single nucleotide variant |
not provided [RCV002164603] |
Chr19:54118473 [GRCh38] Chr19:54621853 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.813C>T (p.Thr271=) |
single nucleotide variant |
not provided [RCV002138744] |
Chr19:54124614 [GRCh38] Chr19:54627993 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1147-15T>C |
single nucleotide variant |
not provided [RCV002119169] |
Chr19:54129042 [GRCh38] Chr19:54632417 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.702G>A (p.Val234=) |
single nucleotide variant |
not provided [RCV002097822] |
Chr19:54124503 [GRCh38] Chr19:54627882 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1073+19C>A |
single nucleotide variant |
not provided [RCV002161174] |
Chr19:54128219 [GRCh38] Chr19:54631594 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.315C>T (p.Asn105=) |
single nucleotide variant |
not provided [RCV002156332] |
Chr19:54121936 [GRCh38] Chr19:54625315 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.946-11_946-10delinsCA |
indel |
not provided [RCV002154616] |
Chr19:54128062..54128063 [GRCh38] Chr19:54631437..54631438 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1147-4dup |
indel |
not provided [RCV002121871] |
Chr19:54129047..54129048 [GRCh38] Chr19:54632423 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.421-8G>A |
single nucleotide variant |
not provided [RCV002136155] |
Chr19:54123446 [GRCh38] Chr19:54626825 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.322+15G>A |
single nucleotide variant |
not provided [RCV002141148] |
Chr19:54121958 [GRCh38] Chr19:54625337 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.527+13C>T |
single nucleotide variant |
not provided [RCV002161823] |
Chr19:54123573 [GRCh38] Chr19:54626952 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.300C>T (p.Thr100=) |
single nucleotide variant |
not provided [RCV002161914] |
Chr19:54121921 [GRCh38] Chr19:54625300 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.856-12C>T |
single nucleotide variant |
not provided [RCV002138401] |
Chr19:54126516 [GRCh38] Chr19:54629891 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.810C>T (p.His270=) |
single nucleotide variant |
not provided [RCV002158815] |
Chr19:54124611 [GRCh38] Chr19:54627990 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.225C>T (p.Ala75=) |
single nucleotide variant |
not provided [RCV002201101] |
Chr19:54118620 [GRCh38] Chr19:54622000 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.90A>G (p.Pro30=) |
single nucleotide variant |
not provided [RCV002203268] |
Chr19:54118368 [GRCh38] Chr19:54621748 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1074-9C>T |
single nucleotide variant |
not provided [RCV002135512] |
Chr19:54128296 [GRCh38] Chr19:54631671 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.900A>G (p.Thr300=) |
single nucleotide variant |
not provided [RCV002135607] |
Chr19:54126572 [GRCh38] Chr19:54629947 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.711C>A (p.Gly237=) |
single nucleotide variant |
not provided [RCV002179369] |
Chr19:54124512 [GRCh38] Chr19:54627891 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.322+20C>T |
single nucleotide variant |
not provided [RCV002203954] |
Chr19:54121963 [GRCh38] Chr19:54625342 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.888C>T (p.Ala296=) |
single nucleotide variant |
not provided [RCV002119026] |
Chr19:54126560 [GRCh38] Chr19:54629935 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.279C>T (p.Ile93=) |
single nucleotide variant |
not provided [RCV002161344] |
Chr19:54121900 [GRCh38] Chr19:54625279 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.946-9C>T |
single nucleotide variant |
not provided [RCV002159237] |
Chr19:54128064 [GRCh38] Chr19:54631439 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.780G>A (p.Ser260=) |
single nucleotide variant |
not provided [RCV002201556] |
Chr19:54124581 [GRCh38] Chr19:54627960 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1205C>A (p.Ser402Ter) |
single nucleotide variant |
not provided [RCV003112416] |
Chr19:54129115 [GRCh38] Chr19:54632490 [GRCh37] Chr19:19q13.42 |
pathogenic |
NC_000019.9:g.(?_54634718)_(54634863_?)del |
deletion |
not provided [RCV003119631] |
Chr19:54634718..54634863 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NC_000019.9:g.(?_54627858)_(54628055_?)del |
deletion |
not provided [RCV003119632] |
Chr19:54627858..54628055 [GRCh37] Chr19:19q13.42 |
pathogenic |
NC_000019.9:g.(?_54631428)_(54632765_?)del |
deletion |
not provided [RCV003119633] |
Chr19:54631428..54632765 [GRCh37] Chr19:19q13.42 |
pathogenic |
NC_000019.9:g.(?_54621659)_(54628055_?)del |
deletion |
not provided [RCV003119634] |
Chr19:54621659..54628055 [GRCh37] Chr19:19q13.42 |
pathogenic |
NC_000019.9:g.(?_54625219)_(54628055_?)del |
deletion |
not provided [RCV003119635] |
Chr19:54625219..54628055 [GRCh37] Chr19:19q13.42 |
pathogenic |
NC_000019.9:g.(?_54625219)_(54630012_?)del |
deletion |
not provided [RCV003119636] |
Chr19:54625219..54630012 [GRCh37] Chr19:19q13.42 |
pathogenic |
NC_000019.9:g.(?_54631428)_(54631772_?)dup |
duplication |
not provided [RCV003119637] |
Chr19:54631428..54631772 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NC_000019.9:g.(?_54622530)_(54626860_?)del |
deletion |
not provided [RCV003119638] |
Chr19:54622530..54626860 [GRCh37] Chr19:19q13.42 |
pathogenic |
NC_000019.9:g.(?_54626515)_(54627192_?)del |
deletion |
not provided [RCV003119639] |
Chr19:54626515..54627192 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.945+2T>G |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV002246221] |
Chr19:54126619 [GRCh38] Chr19:54629994 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.644T>C (p.Ile215Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003097891]|not provided [RCV002296872] |
Chr19:54123865 [GRCh38] Chr19:54627244 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.856-10G>A |
single nucleotide variant |
not provided [RCV002771335] |
Chr19:54126518 [GRCh38] Chr19:54629893 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.89C>T (p.Pro30Leu) |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV002471520] |
Chr19:54118367 [GRCh38] Chr19:54621747 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.870A>T (p.Lys290Asn) |
single nucleotide variant |
not provided [RCV002295662] |
Chr19:54126542 [GRCh38] Chr19:54629917 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.832G>A (p.Asp278Asn) |
single nucleotide variant |
not provided [RCV002296535] |
Chr19:54124633 [GRCh38] Chr19:54628012 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.527+2dup |
duplication |
not provided [RCV002842209] |
Chr19:54123561..54123562 [GRCh38] Chr19:54626940..54626941 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1068C>A (p.Gly356=) |
single nucleotide variant |
not provided [RCV002681816] |
Chr19:54128195 [GRCh38] Chr19:54631570 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1074-1G>A |
single nucleotide variant |
not provided [RCV003014295] |
Chr19:54128304 [GRCh38] Chr19:54631679 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.660C>T (p.Ser220=) |
single nucleotide variant |
PRPF31-related condition [RCV003963560]|not provided [RCV003012461] |
Chr19:54123881 [GRCh38] Chr19:54627260 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1289dup (p.Gln431fs) |
duplication |
not provided [RCV002838415] |
Chr19:54129283..54129284 [GRCh38] Chr19:54632658..54632659 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1073+8G>A |
single nucleotide variant |
not provided [RCV002726800] |
Chr19:54128208 [GRCh38] Chr19:54631583 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1263dup (p.Lys422fs) |
duplication |
PRPF31-related condition [RCV003916550]|not provided [RCV002863245] |
Chr19:54129171..54129172 [GRCh38] Chr19:54632546..54632547 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.141A>G (p.Ser47=) |
single nucleotide variant |
not provided [RCV003016998] |
Chr19:54118419 [GRCh38] Chr19:54621799 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.749dup (p.Met250fs) |
duplication |
not provided [RCV003017700] |
Chr19:54124549..54124550 [GRCh38] Chr19:54627928..54627929 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.409C>T (p.Arg137Cys) |
single nucleotide variant |
not provided [RCV002862063] |
Chr19:54122583 [GRCh38] Chr19:54625962 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.664A>G (p.Ile222Val) |
single nucleotide variant |
not provided [RCV002686361] |
Chr19:54123885 [GRCh38] Chr19:54627264 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.218dup (p.Gln74fs) |
duplication |
not provided [RCV002858409] |
Chr19:54118611..54118612 [GRCh38] Chr19:54621991..54621992 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1185C>T (p.Ser395=) |
single nucleotide variant |
not provided [RCV002754997] |
Chr19:54129095 [GRCh38] Chr19:54632470 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.42A>C (p.Ala14=) |
single nucleotide variant |
not provided [RCV002862113] |
Chr19:54118320 [GRCh38] Chr19:54621700 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.82G>A (p.Glu28Lys) |
single nucleotide variant |
not provided [RCV002972099] |
Chr19:54118360 [GRCh38] Chr19:54621740 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.520_528-8del |
deletion |
not provided [RCV002947582] |
Chr19:54123551..54123739 [GRCh38] Chr19:54626930..54627118 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.946-12C>A |
single nucleotide variant |
not provided [RCV003033092] |
Chr19:54128061 [GRCh38] Chr19:54631436 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1296C>T (p.Ser432=) |
single nucleotide variant |
not provided [RCV002618412] |
Chr19:54129292 [GRCh38] Chr19:54632667 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.528-12C>T |
single nucleotide variant |
not provided [RCV002681639] |
Chr19:54123737 [GRCh38] Chr19:54627116 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.788C>T (p.Ser263Leu) |
single nucleotide variant |
not provided [RCV002908671] |
Chr19:54124589 [GRCh38] Chr19:54627968 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1217G>A (p.Arg406His) |
single nucleotide variant |
not provided [RCV002795386] |
Chr19:54129127 [GRCh38] Chr19:54632502 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1073+9C>T |
single nucleotide variant |
PRPF31-related condition [RCV003943426]|not provided [RCV002571149] |
Chr19:54128209 [GRCh38] Chr19:54631584 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.528-11C>T |
single nucleotide variant |
not provided [RCV002705604] |
Chr19:54123738 [GRCh38] Chr19:54627117 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.574G>A (p.Asp192Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002572184]|not provided [RCV002572185] |
Chr19:54123795 [GRCh38] Chr19:54627174 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.5C>G (p.Ser2Cys) |
single nucleotide variant |
not provided [RCV002927672] |
Chr19:54118283 [GRCh38] Chr19:54621663 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1353C>T (p.Ser451=) |
single nucleotide variant |
not provided [RCV002569738] |
Chr19:54129349 [GRCh38] Chr19:54632724 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1074-16A>C |
single nucleotide variant |
not provided [RCV002781165] |
Chr19:54128289 [GRCh38] Chr19:54631664 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.704C>G (p.Ala235Gly) |
single nucleotide variant |
not provided [RCV002979444] |
Chr19:54124505 [GRCh38] Chr19:54627884 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1115G>A (p.Arg372Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003022129]|not provided [RCV003037924] |
Chr19:54128346 [GRCh38] Chr19:54631721 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.274G>T (p.Val92Phe) |
single nucleotide variant |
not provided [RCV002796078] |
Chr19:54121895 [GRCh38] Chr19:54625274 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.221_224dup (p.Lys76fs) |
microsatellite |
not provided [RCV002979447] |
Chr19:54118608..54118609 [GRCh38] Chr19:54621988..54621989 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.387C>T (p.Val129=) |
single nucleotide variant |
not provided [RCV003038101] |
Chr19:54122561 [GRCh38] Chr19:54625940 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1374+5C>T |
single nucleotide variant |
not provided [RCV003079236] |
Chr19:54129375 [GRCh38] Chr19:54632750 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1203G>A (p.Lys401=) |
single nucleotide variant |
not provided [RCV003019208] |
Chr19:54129113 [GRCh38] Chr19:54632488 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.421-5C>T |
single nucleotide variant |
not provided [RCV002706456] |
Chr19:54123449 [GRCh38] Chr19:54626828 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.209A>G (p.Tyr70Cys) |
single nucleotide variant |
not provided [RCV002998844] |
Chr19:54118604 [GRCh38] Chr19:54621984 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.825C>A (p.Tyr275Ter) |
single nucleotide variant |
not provided [RCV002949300] |
Chr19:54124626 [GRCh38] Chr19:54628005 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1443C>T (p.Ser481=) |
single nucleotide variant |
not provided [RCV003038991] |
Chr19:54131375 [GRCh38] Chr19:54634806 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.713T>C (p.Leu238Pro) |
single nucleotide variant |
not provided [RCV003035740] |
Chr19:54124514 [GRCh38] Chr19:54627893 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1299C>G (p.Val433=) |
single nucleotide variant |
not provided [RCV003038478] |
Chr19:54129295 [GRCh38] Chr19:54632670 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1221G>A (p.Val407=) |
single nucleotide variant |
not provided [RCV002592689] |
Chr19:54129131 [GRCh38] Chr19:54632506 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.178-12C>G |
single nucleotide variant |
not provided [RCV003002504] |
Chr19:54118561 [GRCh38] Chr19:54621941 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.856-7G>T |
single nucleotide variant |
not provided [RCV003018013] |
Chr19:54126521 [GRCh38] Chr19:54629896 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.556C>T (p.Arg186Trp) |
single nucleotide variant |
not provided [RCV002571135] |
Chr19:54123777 [GRCh38] Chr19:54627156 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.322+2T>G |
single nucleotide variant |
not provided [RCV003038527] |
Chr19:54121945 [GRCh38] Chr19:54625324 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1304A>G (p.Tyr435Cys) |
single nucleotide variant |
not provided [RCV003054753] |
Chr19:54129300 [GRCh38] Chr19:54632675 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.698-1G>T |
single nucleotide variant |
not provided [RCV002927109] |
Chr19:54124498 [GRCh38] Chr19:54627877 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1374+18G>C |
single nucleotide variant |
not provided [RCV002592839] |
Chr19:54129388 [GRCh38] Chr19:54632763 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1433A>G (p.Lys478Arg) |
single nucleotide variant |
not provided [RCV002872830] |
Chr19:54131365 [GRCh38] Chr19:54634796 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.779C>T (p.Ser260Leu) |
single nucleotide variant |
not provided [RCV002894525] |
Chr19:54124580 [GRCh38] Chr19:54627959 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1275+18G>A |
single nucleotide variant |
not provided [RCV003059284] |
Chr19:54129203 [GRCh38] Chr19:54632578 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.33C>G (p.Leu11=) |
single nucleotide variant |
not provided [RCV002894954] |
Chr19:54118311 [GRCh38] Chr19:54621691 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.264_276dup (p.Ile93Ter) |
duplication |
not provided [RCV003008245] |
Chr19:54121883..54121884 [GRCh38] Chr19:54625262..54625263 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1338G>C (p.Ser446=) |
single nucleotide variant |
not provided [RCV003025148] |
Chr19:54129334 [GRCh38] Chr19:54632709 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.724T>C (p.Ser242Pro) |
single nucleotide variant |
not provided [RCV003006016] |
Chr19:54124525 [GRCh38] Chr19:54627904 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.728A>G (p.Lys243Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002830657] |
Chr19:54124529 [GRCh38] Chr19:54627908 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1450G>A (p.Ala484Thr) |
single nucleotide variant |
not provided [RCV002711718] |
Chr19:54131382 [GRCh38] Chr19:54634813 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.883G>T (p.Val295Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002767138] |
Chr19:54126555 [GRCh38] Chr19:54629930 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.177+1G>A |
single nucleotide variant |
not provided [RCV002791257] |
Chr19:54118456 [GRCh38] Chr19:54621836 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1154_1157dup (p.Asp386fs) |
duplication |
not provided [RCV002829196] |
Chr19:54129063..54129064 [GRCh38] Chr19:54632438..54632439 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.577A>G (p.Met193Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002874416] |
Chr19:54123798 [GRCh38] Chr19:54627177 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1471G>A (p.Gly491Ser) |
single nucleotide variant |
not provided [RCV003008132] |
Chr19:54131403 [GRCh38] Chr19:54634834 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1120C>A (p.Gln374Lys) |
single nucleotide variant |
not provided [RCV002642734] |
Chr19:54128351 [GRCh38] Chr19:54631726 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1147-19C>G |
single nucleotide variant |
not provided [RCV002711557] |
Chr19:54129038 [GRCh38] Chr19:54632413 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.866G>A (p.Arg289Gln) |
single nucleotide variant |
not provided [RCV002594027] |
Chr19:54126538 [GRCh38] Chr19:54629913 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1164C>A (p.Tyr388Ter) |
single nucleotide variant |
not provided [RCV003023534] |
Chr19:54129074 [GRCh38] Chr19:54632449 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1318dup (p.Thr440fs) |
duplication |
not provided [RCV003023706] |
Chr19:54129313..54129314 [GRCh38] Chr19:54632688..54632689 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.917A>G (p.Asp306Gly) |
single nucleotide variant |
not provided [RCV002802141] |
Chr19:54126589 [GRCh38] Chr19:54629964 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.946-18C>T |
single nucleotide variant |
not provided [RCV002982704] |
Chr19:54128055 [GRCh38] Chr19:54631430 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.321G>A (p.Leu107=) |
single nucleotide variant |
not provided [RCV002852748] |
Chr19:54121942 [GRCh38] Chr19:54625321 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.821T>A (p.Ile274Asn) |
single nucleotide variant |
not provided [RCV002791314] |
Chr19:54124622 [GRCh38] Chr19:54628001 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.177+3_177+17del |
deletion |
not provided [RCV002851387] |
Chr19:54118455..54118469 [GRCh38] Chr19:54621835..54621849 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.7_8del (p.Leu3fs) |
microsatellite |
not provided [RCV002876381] |
Chr19:54118282..54118283 [GRCh38] Chr19:54621662..54621663 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.871G>C (p.Ala291Pro) |
single nucleotide variant |
not provided [RCV003041378] |
Chr19:54126543 [GRCh38] Chr19:54629918 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.901_919del (p.Leu301fs) |
deletion |
not provided [RCV003042729] |
Chr19:54126570..54126588 [GRCh38] Chr19:54629945..54629963 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.838G>A (p.Val280Met) |
single nucleotide variant |
not provided [RCV002786291] |
Chr19:54124639 [GRCh38] Chr19:54628018 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1473C>T (p.Gly491=) |
single nucleotide variant |
not provided [RCV002786382] |
Chr19:54131405 [GRCh38] Chr19:54634836 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1140C>G (p.Phe380Leu) |
single nucleotide variant |
not provided [RCV003025301] |
Chr19:54128371 [GRCh38] Chr19:54631746 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1223G>A (p.Arg408Gln) |
single nucleotide variant |
not provided [RCV002786614] |
Chr19:54129133 [GRCh38] Chr19:54632508 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1107G>A (p.Thr369=) |
single nucleotide variant |
not provided [RCV002663711] |
Chr19:54128338 [GRCh38] Chr19:54631713 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1147-1G>T |
single nucleotide variant |
not provided [RCV002801147] |
Chr19:54129056 [GRCh38] Chr19:54632431 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.855G>A (p.Pro285=) |
single nucleotide variant |
not provided [RCV002710168] |
Chr19:54124656 [GRCh38] Chr19:54628035 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.45A>C (p.Ala15=) |
single nucleotide variant |
not provided [RCV003063775] |
Chr19:54118323 [GRCh38] Chr19:54621703 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.351G>A (p.Lys117=) |
single nucleotide variant |
not provided [RCV002581252] |
Chr19:54122525 [GRCh38] Chr19:54625904 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.967G>A (p.Glu323Lys) |
single nucleotide variant |
not provided [RCV002967168] |
Chr19:54128094 [GRCh38] Chr19:54631469 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.477C>T (p.Leu159=) |
single nucleotide variant |
not provided [RCV003031802] |
Chr19:54123510 [GRCh38] Chr19:54626889 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.802C>T (p.Leu268=) |
single nucleotide variant |
not provided [RCV002581454] |
Chr19:54124603 [GRCh38] Chr19:54627982 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.614_615delinsTT (p.Tyr205Phe) |
indel |
not provided [RCV002806069] |
Chr19:54123835..54123836 [GRCh38] Chr19:54627214..54627215 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.527+1G>A |
single nucleotide variant |
not provided [RCV003046913] |
Chr19:54123561 [GRCh38] Chr19:54626940 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1148del (p.Ile383fs) |
deletion |
not provided [RCV002833627] |
Chr19:54129058 [GRCh38] Chr19:54632433 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.705C>A (p.Ala235=) |
single nucleotide variant |
not provided [RCV002899329] |
Chr19:54124506 [GRCh38] Chr19:54627885 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1083G>A (p.Lys361=) |
single nucleotide variant |
not provided [RCV002671264] |
Chr19:54128314 [GRCh38] Chr19:54631689 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.528-8C>T |
single nucleotide variant |
not provided [RCV002672074] |
Chr19:54123741 [GRCh38] Chr19:54627120 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.846C>T (p.Ser282=) |
single nucleotide variant |
not provided [RCV003027478] |
Chr19:54124647 [GRCh38] Chr19:54628026 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.238+16C>T |
single nucleotide variant |
not provided [RCV003047429] |
Chr19:54118649 [GRCh38] Chr19:54622029 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.239-17C>A |
single nucleotide variant |
not provided [RCV002811143] |
Chr19:54121843 [GRCh38] Chr19:54625222 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.238+1G>A |
single nucleotide variant |
not provided [RCV003061636] |
Chr19:54118634 [GRCh38] Chr19:54622014 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.984C>T (p.Phe328=) |
single nucleotide variant |
not provided [RCV002577181] |
Chr19:54128111 [GRCh38] Chr19:54631486 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.259_263del (p.Ala86_Ala87insTer) |
deletion |
not provided [RCV003028679] |
Chr19:54121877..54121881 [GRCh38] Chr19:54625256..54625260 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.795del (p.Ser266fs) |
deletion |
not provided [RCV002810239] |
Chr19:54124595 [GRCh38] Chr19:54627974 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.595G>A (p.Ala199Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003355869]|not provided [RCV002600796] |
Chr19:54123816 [GRCh38] Chr19:54627195 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.856-15T>C |
single nucleotide variant |
not provided [RCV002715455] |
Chr19:54126513 [GRCh38] Chr19:54629888 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1358C>A (p.Ala453Asp) |
single nucleotide variant |
not provided [RCV002834439] |
Chr19:54129354 [GRCh38] Chr19:54632729 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1231del (p.Gln411fs) |
deletion |
not provided [RCV002814798] |
Chr19:54129141 [GRCh38] Chr19:54632516 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.528-10G>A |
single nucleotide variant |
not provided [RCV002658002] |
Chr19:54123739 [GRCh38] Chr19:54627118 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.591G>C (p.Leu197=) |
single nucleotide variant |
not provided [RCV003052224] |
Chr19:54123812 [GRCh38] Chr19:54627191 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.945+16T>A |
single nucleotide variant |
not provided [RCV002721723] |
Chr19:54126633 [GRCh38] Chr19:54630008 [GRCh37] Chr19:19q13.42 |
likely benign|uncertain significance |
NM_015629.4(PRPF31):c.224C>A (p.Ala75Asp) |
single nucleotide variant |
not provided [RCV002721750] |
Chr19:54118619 [GRCh38] Chr19:54621999 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.760G>T (p.Ala254Ser) |
single nucleotide variant |
not provided [RCV002725855] |
Chr19:54124561 [GRCh38] Chr19:54627940 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.573C>T (p.Cys191=) |
single nucleotide variant |
not provided [RCV002604976] |
Chr19:54123794 [GRCh38] Chr19:54627173 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.132C>T (p.Ser44=) |
single nucleotide variant |
not provided [RCV002587671] |
Chr19:54118410 [GRCh38] Chr19:54621790 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.946-14dup |
duplication |
not provided [RCV002585945] |
Chr19:54128054..54128055 [GRCh38] Chr19:54631429..54631430 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.956A>T (p.Glu319Val) |
single nucleotide variant |
not provided [RCV002725894] |
Chr19:54128083 [GRCh38] Chr19:54631458 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1074-1G>C |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV003224916] |
Chr19:54128304 [GRCh38] Chr19:54631679 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.958C>A (p.Leu320Met) |
single nucleotide variant |
not provided [RCV003228239] |
Chr19:54128085 [GRCh38] Chr19:54631460 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.663C>T (p.Ile221=) |
single nucleotide variant |
not provided [RCV003872582] |
Chr19:54123884 [GRCh38] Chr19:54627263 [GRCh37] Chr19:19q13.42 |
likely benign |
GRCh38/hg38 19q13.42(chr19:54109954-54115802)x1 |
copy number loss |
Retinitis pigmentosa 11 [RCV003327685] |
Chr19:54109954..54115802 [GRCh38] Chr19:19q13.42 |
uncertain significance |
GRCh38/hg38 19q13.42(chr19:54121739-54129468)x1 |
copy number loss |
Retinitis pigmentosa 11 [RCV003327677] |
Chr19:54121739..54129468 [GRCh38] Chr19:19q13.42 |
pathogenic |
GRCh38/hg38 19q13.42(chr19:54121739-54131817)x1 |
copy number loss |
Retinitis pigmentosa 11 [RCV003327678] |
Chr19:54121739..54131817 [GRCh38] Chr19:19q13.42 |
pathogenic |
GRCh38/hg38 19q13.42(chr19:54114345-54129468)x1 |
copy number loss |
Retinitis pigmentosa 11 [RCV003327679] |
Chr19:54114345..54129468 [GRCh38] Chr19:19q13.42 |
pathogenic |
GRCh38/hg38 19q13.42(chr19:54106667-54131817)x1 |
copy number loss |
Retinitis pigmentosa 11 [RCV003327680] |
Chr19:54106667..54131817 [GRCh38] Chr19:19q13.42 |
pathogenic |
GRCh38/hg38 19q13.42(chr19:54105500-54126715)x1 |
copy number loss |
Retinitis pigmentosa 11 [RCV003327681] |
Chr19:54105500..54126715 [GRCh38] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.855+5G>C |
single nucleotide variant |
not provided [RCV003570105] |
Chr19:54124661 [GRCh38] Chr19:54628040 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1027C>T (p.Leu343=) |
single nucleotide variant |
not provided [RCV003571345] |
Chr19:54128154 [GRCh38] Chr19:54631529 [GRCh37] Chr19:19q13.42 |
likely benign |
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 |
copy number gain |
not provided [RCV003485200] |
Chr19:49625130..57647352 [GRCh37] Chr19:19q13.33-13.43 |
likely pathogenic |
NM_015629.4(PRPF31):c.946-344C>T |
single nucleotide variant |
Retinitis pigmentosa 11 [RCV003389612] |
Chr19:54127729 [GRCh38] Chr19:54631104 [GRCh37] Chr19:19q13.42 |
uncertain significance |
GRCh37/hg19 19q13.42(chr19:54544215-54881884)x3 |
copy number gain |
not provided [RCV003457291] |
Chr19:54544215..54881884 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.323-8T>C |
single nucleotide variant |
not provided [RCV003576828] |
Chr19:54122489 [GRCh38] Chr19:54625868 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.3G>C (p.Met1Ile) |
single nucleotide variant |
not provided [RCV003713652] |
Chr19:54118281 [GRCh38] Chr19:54621661 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1149C>A (p.Ile383=) |
single nucleotide variant |
not provided [RCV003691881] |
Chr19:54129059 [GRCh38] Chr19:54632434 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.-9+1G>T |
single nucleotide variant |
Retinitis pigmentosa [RCV003494095] |
Chr19:54115798 [GRCh38] Chr19:54619178 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1452T>C (p.Ala484=) |
single nucleotide variant |
not provided [RCV003687252] |
Chr19:54131384 [GRCh38] Chr19:54634815 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.862C>A (p.Arg288=) |
single nucleotide variant |
not provided [RCV003826428] |
Chr19:54126534 [GRCh38] Chr19:54629909 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1398G>A (p.Gln466=) |
single nucleotide variant |
not provided [RCV003686673] |
Chr19:54131330 [GRCh38] Chr19:54634761 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.351dup (p.Tyr118fs) |
duplication |
not provided [RCV003573848] |
Chr19:54122524..54122525 [GRCh38] Chr19:54625903..54625904 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.674del (p.Ala225fs) |
deletion |
not provided [RCV003547778] |
Chr19:54123895 [GRCh38] Chr19:54627274 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.479C>G (p.Thr160Ser) |
single nucleotide variant |
not provided [RCV003688760] |
Chr19:54123512 [GRCh38] Chr19:54626891 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1146+19C>T |
single nucleotide variant |
not provided [RCV003712861] |
Chr19:54128396 [GRCh38] Chr19:54631771 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.22T>C (p.Leu8=) |
single nucleotide variant |
not provided [RCV003811111] |
Chr19:54118300 [GRCh38] Chr19:54621680 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.52G>T (p.Glu18Ter) |
single nucleotide variant |
not provided [RCV003580877] |
Chr19:54118330 [GRCh38] Chr19:54621710 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.450G>A (p.Lys150=) |
single nucleotide variant |
not provided [RCV003664807] |
Chr19:54123483 [GRCh38] Chr19:54626862 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.111G>A (p.Glu37=) |
single nucleotide variant |
not provided [RCV003832441] |
Chr19:54118389 [GRCh38] Chr19:54621769 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1061G>T (p.Arg354Leu) |
single nucleotide variant |
not provided [RCV003673720] |
Chr19:54128188 [GRCh38] Chr19:54631563 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1295G>A (p.Ser432Asn) |
single nucleotide variant |
not provided [RCV003664617] |
Chr19:54129291 [GRCh38] Chr19:54632666 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.528-3C>T |
single nucleotide variant |
not provided [RCV003839873] |
Chr19:54123746 [GRCh38] Chr19:54627125 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1101G>C (p.Gly367=) |
single nucleotide variant |
not provided [RCV003669592] |
Chr19:54128332 [GRCh38] Chr19:54631707 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.562G>C (p.Glu188Gln) |
single nucleotide variant |
not provided [RCV003670468] |
Chr19:54123783 [GRCh38] Chr19:54627162 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1147-19C>T |
single nucleotide variant |
not provided [RCV003836425] |
Chr19:54129038 [GRCh38] Chr19:54632413 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1373_1374+40del |
deletion |
not provided [RCV003701262] |
Chr19:54129367..54129408 [GRCh38] Chr19:54632742..54632783 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.389C>T (p.Pro130Leu) |
single nucleotide variant |
not provided [RCV003669658] |
Chr19:54122563 [GRCh38] Chr19:54625942 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1385T>C (p.Ile462Thr) |
single nucleotide variant |
not provided [RCV003659586] |
Chr19:54131317 [GRCh38] Chr19:54634748 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1275+11G>C |
single nucleotide variant |
not provided [RCV003832764] |
Chr19:54129196 [GRCh38] Chr19:54632571 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1123G>C (p.Ala375Pro) |
single nucleotide variant |
not provided [RCV003700242] |
Chr19:54128354 [GRCh38] Chr19:54631729 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1146+2T>C |
single nucleotide variant |
not provided [RCV003560129] |
Chr19:54128379 [GRCh38] Chr19:54631754 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1005G>A (p.Pro335=) |
single nucleotide variant |
not provided [RCV003838643] |
Chr19:54128132 [GRCh38] Chr19:54631507 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1130G>T (p.Arg377Leu) |
single nucleotide variant |
not provided [RCV003658930] |
Chr19:54128361 [GRCh38] Chr19:54631736 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.118C>T (p.Gln40Ter) |
single nucleotide variant |
Retinal dystrophy [RCV003889347]|not provided [RCV003838019] |
Chr19:54118396 [GRCh38] Chr19:54621776 [GRCh37] Chr19:19q13.42 |
pathogenic|likely pathogenic |
NM_015629.4(PRPF31):c.945+19G>C |
single nucleotide variant |
not provided [RCV003707979] |
Chr19:54126636 [GRCh38] Chr19:54630011 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1074G>C (p.Arg358Ser) |
single nucleotide variant |
not provided [RCV003564502] |
Chr19:54128305 [GRCh38] Chr19:54631680 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.526G>A (p.Gly176Arg) |
single nucleotide variant |
not provided [RCV003676209] |
Chr19:54123559 [GRCh38] Chr19:54626938 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.93G>A (p.Ala31=) |
single nucleotide variant |
not provided [RCV003861014] |
Chr19:54118371 [GRCh38] Chr19:54621751 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.856G>C (p.Asp286His) |
single nucleotide variant |
not provided [RCV003706217] |
Chr19:54126528 [GRCh38] Chr19:54629903 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1186C>G (p.Leu396Val) |
single nucleotide variant |
not provided [RCV003685704] |
Chr19:54129096 [GRCh38] Chr19:54632471 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1480A>G (p.Ser494Gly) |
single nucleotide variant |
not provided [RCV003818506] |
Chr19:54131412 [GRCh38] Chr19:54634843 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.923T>G (p.Phe308Cys) |
single nucleotide variant |
not provided [RCV003866949] |
Chr19:54126595 [GRCh38] Chr19:54629970 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1074-1G>T |
single nucleotide variant |
not provided [RCV003734685] |
Chr19:54128304 [GRCh38] Chr19:54631679 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1074-7_1079del |
deletion |
not provided [RCV003685060] |
Chr19:54128295..54128307 [GRCh38] Chr19:54631670..54631682 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.180T>C (p.Phe60=) |
single nucleotide variant |
not provided [RCV003683922] |
Chr19:54118575 [GRCh38] Chr19:54621955 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1130G>A (p.Arg377His) |
single nucleotide variant |
not provided [RCV003867535] |
Chr19:54128361 [GRCh38] Chr19:54631736 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1225C>T (p.Gln409Ter) |
single nucleotide variant |
not provided [RCV003706078] |
Chr19:54129135 [GRCh38] Chr19:54632510 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.323-3T>C |
single nucleotide variant |
not provided [RCV003864048] |
Chr19:54122494 [GRCh38] Chr19:54625873 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1344G>A (p.Thr448=) |
single nucleotide variant |
not provided [RCV003865047] |
Chr19:54129340 [GRCh38] Chr19:54632715 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.652A>G (p.Asn218Asp) |
single nucleotide variant |
not provided [RCV003678093] |
Chr19:54123873 [GRCh38] Chr19:54627252 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.529C>G (p.Gln177Glu) |
single nucleotide variant |
not provided [RCV003704106] |
Chr19:54123750 [GRCh38] Chr19:54627129 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.613_615del (p.Tyr205del) |
deletion |
Retinal dystrophy [RCV003890380] |
Chr19:54123833..54123835 [GRCh38] Chr19:54627212..54627214 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.955G>C (p.Glu319Gln) |
single nucleotide variant |
Retinal dystrophy [RCV003890384] |
Chr19:54128082 [GRCh38] Chr19:54631457 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1332C>T (p.Arg444=) |
single nucleotide variant |
Retinal dystrophy [RCV003890392] |
Chr19:54129328 [GRCh38] Chr19:54632703 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.*7G>A |
single nucleotide variant |
PRPF31-related condition [RCV003931671] |
Chr19:54131439 [GRCh38] Chr19:54634870 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.178-8T>C |
single nucleotide variant |
PRPF31-related condition [RCV003929453] |
Chr19:54118565 [GRCh38] Chr19:54621945 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.265G>T (p.Glu89Ter) |
single nucleotide variant |
Retinal dystrophy [RCV003890376] |
Chr19:54121886 [GRCh38] Chr19:54625265 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.792T>C (p.Ser264=) |
single nucleotide variant |
Retinal dystrophy [RCV003890382] |
Chr19:54124593 [GRCh38] Chr19:54627972 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1499G>C (p.Ter500Ser) |
single nucleotide variant |
Retinal dystrophy [RCV003890393] |
Chr19:54131431 [GRCh38] Chr19:54634862 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.347A>G (p.Asp116Gly) |
single nucleotide variant |
Retinal dystrophy [RCV003890379] |
Chr19:54122521 [GRCh38] Chr19:54625900 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.856G>T (p.Asp286Tyr) |
single nucleotide variant |
Retinal dystrophy [RCV003890383] |
Chr19:54126528 [GRCh38] Chr19:54629903 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1142del (p.Gly381fs) |
deletion |
Retinal dystrophy [RCV003890387] |
Chr19:54128372 [GRCh38] Chr19:54631747 [GRCh37] Chr19:19q13.42 |
pathogenic |
NM_015629.4(PRPF31):c.1159G>T (p.Ala387Ser) |
single nucleotide variant |
Retinal dystrophy [RCV003890389] |
Chr19:54129069 [GRCh38] Chr19:54632444 [GRCh37] Chr19:19q13.42 |
uncertain significance |
NM_015629.4(PRPF31):c.1231_1232del (p.Gln411fs) |
microsatellite |
Retinal dystrophy [RCV003890391] |
Chr19:54129138..54129139 [GRCh38] Chr19:54632513..54632514 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
GRCh37/hg19 19q13.42(chr19:54629903-54629992)x1 |
copy number loss |
not provided [RCV003887788] |
Chr19:54629903..54629992 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.96C>T (p.Ile32=) |
single nucleotide variant |
Retinal dystrophy [RCV003890375] |
Chr19:54118374 [GRCh38] Chr19:54621754 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.304G>T (p.Glu102Ter) |
single nucleotide variant |
Retinal dystrophy [RCV003890377] |
Chr19:54121925 [GRCh38] Chr19:54625304 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.310G>T (p.Glu104Ter) |
single nucleotide variant |
Retinal dystrophy [RCV003890378] |
Chr19:54121931 [GRCh38] Chr19:54625310 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1154_1155insAG (p.Asp386fs) |
insertion |
Retinal dystrophy [RCV003890388] |
Chr19:54129064..54129065 [GRCh38] Chr19:54632439..54632440 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1170G>A (p.Glu390=) |
single nucleotide variant |
Retinal dystrophy [RCV003890390] |
Chr19:54129080 [GRCh38] Chr19:54632455 [GRCh37] Chr19:19q13.42 |
benign |
NM_015629.4(PRPF31):c.69T>C (p.Tyr23=) |
single nucleotide variant |
Retinal dystrophy [RCV003890374] |
Chr19:54118347 [GRCh38] Chr19:54621727 [GRCh37] Chr19:19q13.42 |
likely benign |
NM_015629.4(PRPF31):c.1033dup (p.Ala345fs) |
duplication |
Retinal dystrophy [RCV003890385] |
Chr19:54128159..54128160 [GRCh38] Chr19:54631534..54631535 [GRCh37] Chr19:19q13.42 |
likely pathogenic |
NM_015629.4(PRPF31):c.1035G>A (p.Ala345=) |
single nucleotide variant |
Retinal dystrophy [RCV003890386] |
Chr19:54128162 [GRCh38] Chr19:54631537 [GRCh37] Chr19:19q13.42 |
uncertain significance |