NM_000554.6(CRX):c.502del (p.Glu168fs) |
deletion |
Cone-rod dystrophy 2 [RCV000007842] |
Chr19:47839569 [GRCh38] Chr19:48342826 [GRCh37] Chr19:19q13.33 |
pathogenic |
CRX, 2-BP DEL, GLU168 |
deletion |
Leber congenital amaurosis 7 [RCV000007844] |
Chr19:19q13.3 |
pathogenic |
CRX, 1-BP DEL, GLY217 |
deletion |
Leber congenital amaurosis 7 [RCV000007845] |
Chr19:19q13.3 |
pathogenic |
CRX, 1-BP DEL, 520G |
deletion |
Leber congenital amaurosis 7 [RCV000007848] |
Chr19:19q13.3 |
pathogenic |
CRX, 1-BP DEL, 615C |
deletion |
Cone-rod dystrophy 2 [RCV000007849] |
Chr19:19q13.3 |
pathogenic |
NM_000554.6(CRX):c.816_818delinsAA (p.Thr273fs) |
indel |
Cone-rod dystrophy 2 [RCV000007850] |
Chr19:47839883..47839885 [GRCh38] Chr19:48343140..48343142 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.193G>C (p.Asp65His) |
single nucleotide variant |
Retinitis pigmentosa [RCV000132604] |
Chr19:47836335 [GRCh38] Chr19:48339592 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.897G>C (p.Leu299Phe) |
single nucleotide variant |
Retinitis pigmentosa [RCV000132605] |
Chr19:47839964 [GRCh38] Chr19:48343221 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.733T>C (p.Ser245Pro) |
single nucleotide variant |
not provided [RCV000521258] |
Chr19:47839800 [GRCh38] Chr19:48343057 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.239A>C (p.Glu80Ala) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000007841]|Leber congenital amaurosis 7 [RCV001386170]|not provided [RCV000085995] |
Chr19:47836381 [GRCh38] Chr19:48339638 [GRCh37] Chr19:19q13.33 |
pathogenic|not provided |
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000007843]|Cone-rod dystrophy [RCV003324484]|Leber congenital amaurosis 7 [RCV001386169]|Retinal dystrophy [RCV001073396]|Retinitis pigmentosa [RCV003324485]|not provided [RCV000085989] |
Chr19:47836263 [GRCh38] Chr19:48339520 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic|not provided |
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000007846]|Leber congenital amaurosis 7 [RCV001059718]|Retinal dystrophy [RCV001075469]|not provided [RCV000085990] |
Chr19:47836264 [GRCh38] Chr19:48339521 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic|not provided |
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV000007847]|Leber congenital amaurosis 7 [RCV001244346]|Retinal dystrophy [RCV001074643]|not provided [RCV000086364] |
Chr19:47839335 [GRCh38] Chr19:48342592 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic|uncertain significance|not provided |
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 |
copy number gain |
See cases [RCV000052913] |
Chr19:46658791..49050450 [GRCh38] Chr19:47162048..49553707 [GRCh37] Chr19:51853888..54245519 [NCBI36] Chr19:19q13.32-13.33 |
pathogenic |
NM_000554.6(CRX):c.529del (p.Ala177fs) |
deletion |
Leber congenital amaurosis 7 [RCV000055824]|Leber congenital amaurosis 7 [RCV002515745]|not provided [RCV000086008] |
Chr19:47839594 [GRCh38] Chr19:48342851 [GRCh37] Chr19:19q13.33 |
pathogenic|uncertain significance|not provided |
NM_000554.6(CRX):c.100+12C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000302511]|Leber congenital amaurosis 7 [RCV000359553]|Leber congenital amaurosis 7 [RCV001522153]|Retinitis pigmentosa [RCV000271922]|not provided [RCV000085985]|not specified [RCV000248132] |
Chr19:47834555 [GRCh38] Chr19:48337812 [GRCh37] Chr19:19q13.33 |
benign|not provided |
NM_000554.6(CRX):c.100+2T>C |
single nucleotide variant |
not provided [RCV000085986] |
Chr19:47834545 [GRCh38] Chr19:48337802 [GRCh37] Chr19:19q13.33 |
likely pathogenic|not provided |
NM_000554.6(CRX):c.101-13C>G |
single nucleotide variant |
not provided [RCV000085987] |
Chr19:47836230 [GRCh38] Chr19:48339487 [GRCh37] Chr19:19q13.33 |
not provided |
NM_000554.6(CRX):c.101-65A>T |
single nucleotide variant |
not provided [RCV000085988] |
Chr19:47836178 [GRCh38] Chr19:48339435 [GRCh37] Chr19:19q13.33 |
not provided |
NM_000554.6(CRX):c.166G>A (p.Ala56Thr) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001369855]|not provided [RCV000085991] |
Chr19:47836308 [GRCh38] Chr19:48339565 [GRCh37] Chr19:19q13.33 |
likely pathogenic|uncertain significance|not provided |
NM_000554.6(CRX):c.196G>A (p.Val66Ile) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001135902]|Leber congenital amaurosis 1 [RCV000990234]|Leber congenital amaurosis 7 [RCV000331407]|Leber congenital amaurosis 7 [RCV001087305]|Retinitis pigmentosa [RCV001128897]|not provided [RCV000085992]|not specified [RCV000297047] |
Chr19:47836338 [GRCh38] Chr19:48339595 [GRCh37] Chr19:19q13.33 |
benign|likely benign|not provided |
NM_000554.6(CRX):c.24dup (p.Pro9fs) |
duplication |
Retinal dystrophy [RCV001073568]|not provided [RCV000085993] |
Chr19:47834463..47834464 [GRCh38] Chr19:48337720..48337721 [GRCh37] Chr19:19q13.33 |
likely pathogenic|not provided |
NM_000554.6(CRX):c.238G>A (p.Glu80Lys) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001854500]|maculopathy [RCV001003002]|not provided [RCV000085994] |
Chr19:47836380 [GRCh38] Chr19:48339637 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_000554.6(CRX):c.253-15G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000374438]|Leber congenital amaurosis 7 [RCV000335244]|Leber congenital amaurosis 7 [RCV001512740]|Retinitis pigmentosa [RCV000282603]|not provided [RCV000085996] |
Chr19:47839305 [GRCh38] Chr19:48342562 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000554.6(CRX):c.253-18T>A |
single nucleotide variant |
not provided [RCV000085997] |
Chr19:47839302 [GRCh38] Chr19:48342559 [GRCh37] Chr19:19q13.33 |
not provided |
NM_000554.6(CRX):c.335C>T (p.Ala112Val) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001857421]|not provided [RCV000085998] |
Chr19:47839402 [GRCh38] Chr19:48342659 [GRCh37] Chr19:19q13.33 |
uncertain significance|not provided |
NM_000554.6(CRX):c.351dup (p.Lys118fs) |
duplication |
not provided [RCV000085999] |
Chr19:47839416..47839417 [GRCh38] Chr19:48342673..48342674 [GRCh37] Chr19:19q13.33 |
not provided |
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) |
single nucleotide variant |
Central core myopathy [RCV001258249]|Cone-rod dystrophy 2 [RCV000286039]|Leber congenital amaurosis 7 [RCV000339186]|Leber congenital amaurosis 7 [RCV001082272]|Retinitis pigmentosa [RCV000373510]|not provided [RCV000086000]|not specified [RCV000153123] |
Chr19:47839432 [GRCh38] Chr19:48342689 [GRCh37] Chr19:19q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) |
single nucleotide variant |
Autosomal dominant retinitis pigmentosa [RCV001257854]|Cone-rod dystrophy 2 [RCV001131568]|Leber congenital amaurosis 1 [RCV000990235]|Leber congenital amaurosis 7 [RCV001089193]|Leber congenital amaurosis 7 [RCV001131569]|Retinitis pigmentosa [RCV000787829]|not provided [RCV000086001] |
Chr19:47839492 [GRCh38] Chr19:48342749 [GRCh37] Chr19:19q13.33 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000554.6(CRX):c.436_447del (p.Leu146_Pro149del) |
deletion |
not provided [RCV000086002] |
Chr19:47839503..47839514 [GRCh38] Chr19:48342760..48342771 [GRCh37] Chr19:19q13.33 |
not provided |
NM_000554.6(CRX):c.447dup (p.Ser150fs) |
duplication |
Leber congenital amaurosis 7 [RCV001247677]|not provided [RCV000086003] |
Chr19:47839510..47839511 [GRCh38] Chr19:48342767..48342768 [GRCh37] Chr19:19q13.33 |
pathogenic|not provided |
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000347317]|Leber congenital amaurosis 7 [RCV000390414]|Leber congenital amaurosis 7 [RCV001081848]|Retinitis pigmentosa [RCV000308806]|Retinitis pigmentosa [RCV002498461]|not provided [RCV000086004]|not specified [RCV000178122] |
Chr19:47839539 [GRCh38] Chr19:48342796 [GRCh37] Chr19:19q13.33 |
benign|likely benign|not provided |
NM_000554.6(CRX):c.503_504del (p.Glu168fs) |
microsatellite |
Leber congenital amaurosis 7 [RCV002274927]|not provided [RCV000086005] |
Chr19:47839568..47839569 [GRCh38] Chr19:48342825..48342826 [GRCh37] Chr19:19q13.33 |
pathogenic|not provided |
NM_000554.6(CRX):c.505del (p.Ser169fs) |
deletion |
not provided [RCV000086006] |
Chr19:47839572 [GRCh38] Chr19:48342829 [GRCh37] Chr19:19q13.33 |
not provided |
NM_000554.6(CRX):c.520del (p.Ala174fs) |
deletion |
Leber congenital amaurosis 7 [RCV000007848]|not provided [RCV000086007] |
Chr19:47839586 [GRCh38] Chr19:48342843 [GRCh37] Chr19:19q13.33 |
pathogenic|not provided |
NM_000554.6(CRX):c.541del (p.Ala181fs) |
deletion |
not provided [RCV000086009] |
Chr19:47839607 [GRCh38] Chr19:48342864 [GRCh37] Chr19:19q13.33 |
not provided |
NM_000554.6(CRX):c.549G>A (p.Gly183=) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001132602]|Leber congenital amaurosis 7 [RCV001132603]|Leber congenital amaurosis 7 [RCV001474134]|Retinitis pigmentosa [RCV001132601]|not provided [RCV000086010] |
Chr19:47839616 [GRCh38] Chr19:48342873 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance|not provided |
NM_000554.6(CRX):c.571del (p.Tyr191fs) |
deletion |
Leber congenital amaurosis 7 [RCV001857422]|not provided [RCV000086011] |
Chr19:47839638 [GRCh38] Chr19:48342895 [GRCh37] Chr19:19q13.33 |
pathogenic|not provided |
NM_000554.6(CRX):c.585dup (p.Ala196fs) |
duplication |
not provided [RCV000086012] |
Chr19:47839651..47839652 [GRCh38] Chr19:48342908..48342909 [GRCh37] Chr19:19q13.33 |
not provided |
NM_000554.6(CRX):c.587_590del (p.Ala196fs) |
deletion |
not provided [RCV000086013] |
Chr19:47839654..47839657 [GRCh38] Chr19:48342911..48342914 [GRCh37] Chr19:19q13.33 |
not provided |
NM_000554.6(CRX):c.597C>T (p.Ser199=) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000277021]|Leber congenital amaurosis 7 [RCV000311321]|Leber congenital amaurosis 7 [RCV001080501]|Retinitis pigmentosa [RCV000368298]|not provided [RCV000086014] |
Chr19:47839664 [GRCh38] Chr19:48342921 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance|not provided |
NM_000554.6(CRX):c.615del (p.Ser206fs) |
deletion |
Cone-rod dystrophy 2 [RCV000007849]|Leber congenital amaurosis 7 [RCV001854501]|not provided [RCV000086015] |
Chr19:47839678 [GRCh38] Chr19:48342935 [GRCh37] Chr19:19q13.33 |
pathogenic|uncertain significance|not provided |
NM_000554.6(CRX):c.650del (p.Gly217fs) |
deletion |
Leber congenital amaurosis 7 [RCV002274928]|not provided [RCV000086016] |
Chr19:47839716 [GRCh38] Chr19:48342973 [GRCh37] Chr19:19q13.33 |
pathogenic|not provided |
NM_000554.6(CRX):c.709del (p.Leu237fs) |
deletion |
not provided [RCV000086017] |
Chr19:47839772 [GRCh38] Chr19:48343029 [GRCh37] Chr19:19q13.33 |
not provided |
NM_000554.6(CRX):c.724G>A (p.Val242Met) |
single nucleotide variant |
Leber congenital amaurosis 1 [RCV000990238]|Leber congenital amaurosis 7 [RCV001081597]|Retinitis pigmentosa [RCV002505020]|not provided [RCV000086018]|not specified [RCV000597336] |
Chr19:47839791 [GRCh38] Chr19:48343048 [GRCh37] Chr19:19q13.33 |
benign|likely benign|not provided |
NM_000554.6(CRX):c.753del (p.Ser252fs) |
deletion |
Leber congenital amaurosis 7 [RCV001307244]|not provided [RCV000086019] |
Chr19:47839819 [GRCh38] Chr19:48343076 [GRCh37] Chr19:19q13.33 |
uncertain significance|not provided |
NM_000554.6(CRX):c.789del (p.Val264fs) |
deletion |
not provided [RCV000086020] |
Chr19:47839853 [GRCh38] Chr19:48343110 [GRCh37] Chr19:19q13.33 |
not provided |
NM_000554.6(CRX):c.818C>T (p.Thr273Met) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001241022]|not provided [RCV000086021] |
Chr19:47839885 [GRCh38] Chr19:48343142 [GRCh37] Chr19:19q13.33 |
uncertain significance|not provided |
NM_000554.6(CRX):c.695del (p.Pro232fs) |
deletion |
Autosomal dominant retinitis pigmentosa [RCV001257855]|Leber congenital amaurosis 7 [RCV001250589]|not provided [RCV000171490] |
Chr19:47839760 [GRCh38] Chr19:48343017 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic |
NM_000554.6(CRX):c.274G>A (p.Ala92Thr) |
single nucleotide variant |
Autosomal dominant retinitis pigmentosa [RCV001257853]|Leber congenital amaurosis 7 [RCV001342675]|not provided [RCV000171286] |
Chr19:47839341 [GRCh38] Chr19:48342598 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic|uncertain significance |
NM_000554.6(CRX):c.107C>A (p.Pro36His) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149004] |
Chr19:47836249 [GRCh38] Chr19:48339506 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 |
copy number gain |
See cases [RCV000136578] |
Chr19:44971420..48257402 [GRCh38] Chr19:45474677..48760659 [GRCh37] Chr19:50166517..53452471 [NCBI36] Chr19:19q13.32-13.33 |
pathogenic |
GRCh38/hg38 19q13.33(chr19:47832818-47902680)x3 |
copy number gain |
See cases [RCV000137521] |
Chr19:47832818..47902680 [GRCh38] Chr19:48336075..48405937 [GRCh37] Chr19:53027887..53097749 [NCBI36] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.101-3del |
deletion |
Leber congenital amaurosis 7 [RCV001522927]|not provided [RCV000153122] |
Chr19:47836237 [GRCh38] Chr19:48339494 [GRCh37] Chr19:19q13.33 |
benign|uncertain significance |
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV000197997]|Leber congenital amaurosis 7 [RCV002517299]|Retinal dystrophy [RCV001075515] |
Chr19:47836266 [GRCh38] Chr19:48339523 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic |
NM_000554.6(CRX):c.435del (p.Leu146fs) |
deletion |
Leber congenital amaurosis 7 [RCV001228949] |
Chr19:47839502 [GRCh38] Chr19:48342759 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.449C>G (p.Ser150Ter) |
single nucleotide variant |
Benign concentric annular macular dystrophy [RCV000203264]|Leber congenital amaurosis 7 [RCV001208760] |
Chr19:47839516 [GRCh38] Chr19:48342773 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.660del (p.Tyr221fs) |
deletion |
Benign concentric annular macular dystrophy [RCV000203269]|Leber congenital amaurosis 7 [RCV002517362] |
Chr19:47839724 [GRCh38] Chr19:48342981 [GRCh37] Chr19:19q13.33 |
pathogenic|uncertain significance |
NM_000554.6(CRX):c.661del (p.Tyr221fs) |
deletion |
Benign concentric annular macular dystrophy [RCV000203272]|Leber congenital amaurosis 7 [RCV001361118] |
Chr19:47839728 [GRCh38] Chr19:48342985 [GRCh37] Chr19:19q13.33 |
pathogenic|uncertain significance |
NM_000554.6(CRX):c.-29T>A |
single nucleotide variant |
not provided [RCV000755995] |
Chr19:47834415 [GRCh38] Chr19:48337672 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.648del (p.Ser216fs) |
deletion |
Leber congenital amaurosis [RCV000210309] |
Chr19:47839715 [GRCh38] Chr19:48342972 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.100+1G>C |
single nucleotide variant |
Retinal dystrophy [RCV000225389] |
Chr19:47834544 [GRCh38] Chr19:48337801 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.605del (p.Cys202fs) |
deletion |
Leber congenital amaurosis 7 [RCV001036303]|Retinal dystrophy [RCV000225573] |
Chr19:47839672 [GRCh38] Chr19:48342929 [GRCh37] Chr19:19q13.33 |
likely pathogenic|uncertain significance |
NM_000554.6(CRX):c.269G>A (p.Arg90Gln) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001853674]|not provided [RCV000520899] |
Chr19:47839336 [GRCh38] Chr19:48342593 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001865500]|Retinal dystrophy [RCV001073867]|not provided [RCV000487650] |
Chr19:47839730 [GRCh38] Chr19:48342987 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
GRCh37/hg19 19q13.33(chr19:48345470-48575975)x3 |
copy number gain |
See cases [RCV000240458] |
Chr19:48345470..48575975 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2539C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000337066]|Leber congenital amaurosis 7 [RCV000282067]|Retinitis pigmentosa [RCV000395396] |
Chr19:47842506 [GRCh38] Chr19:48345763 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_000554.6(CRX):c.*591G>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000281948]|Leber congenital amaurosis 7 [RCV000371731]|Retinitis pigmentosa [RCV000337104] |
Chr19:47840558 [GRCh38] Chr19:48343815 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*1961G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000397748]|Leber congenital amaurosis 7 [RCV000300503]|Retinitis pigmentosa [RCV000335807] |
Chr19:47841928 [GRCh38] Chr19:48345185 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*754_*756dup |
duplication |
Cone-Rod Dystrophy, Dominant [RCV000320472]|Leber congenital amaurosis [RCV000265418]|Retinitis Pigmentosa, Dominant [RCV000379694] |
Chr19:47840703..47840704 [GRCh38] Chr19:48343960..48343961 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2704C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000265375]|Leber congenital amaurosis 7 [RCV000323965]|Retinitis pigmentosa [RCV000378501] |
Chr19:47842671 [GRCh38] Chr19:48345928 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*595C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000283255]|Leber congenital amaurosis 7 [RCV000342965]|Retinitis pigmentosa [RCV000377666] |
Chr19:47840562 [GRCh38] Chr19:48343819 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_000554.6(CRX):c.*3017C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000357027]|Leber congenital amaurosis 7 [RCV000302277]|Retinitis pigmentosa [RCV000396071] |
Chr19:47842984 [GRCh38] Chr19:48346241 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.5(CRX):c.-116T>C |
single nucleotide variant |
Cone-Rod Dystrophy, Dominant [RCV000265804]|Leber congenital amaurosis [RCV000327978]|Retinitis Pigmentosa, Dominant [RCV000384844] |
Chr19:47821930 [GRCh38] Chr19:48325187 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*1346G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000266270]|Leber congenital amaurosis 7 [RCV000380361]|Retinitis pigmentosa [RCV000323506] |
Chr19:47841313 [GRCh38] Chr19:48344570 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*2485C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000285817]|Leber congenital amaurosis 7 [RCV000340688]|Retinitis pigmentosa [RCV000395379] |
Chr19:47842452 [GRCh38] Chr19:48345709 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*401A>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000338808]|Leber congenital amaurosis 7 [RCV000303694]|Retinitis pigmentosa [RCV000399605] |
Chr19:47840368 [GRCh38] Chr19:48343625 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*436G>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000363398]|Leber congenital amaurosis 7 [RCV000328670]|Retinitis pigmentosa [RCV000268883] |
Chr19:47840403 [GRCh38] Chr19:48343660 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*19C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000399088]|Leber congenital amaurosis 7 [RCV000287905]|Retinitis pigmentosa [RCV000347496] |
Chr19:47839986 [GRCh38] Chr19:48343243 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*1455T>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000288387]|Leber congenital amaurosis 7 [RCV000383157]|Retinitis pigmentosa [RCV000345755] |
Chr19:47841422 [GRCh38] Chr19:48344679 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*1792C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000381303]|Leber congenital amaurosis 7 [RCV000270467]|Retinitis pigmentosa [RCV000324431] |
Chr19:47841759 [GRCh38] Chr19:48345016 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.101-12A>G |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000270983]|Leber congenital amaurosis 7 [RCV000363225]|Leber congenital amaurosis 7 [RCV001519268]|Retinitis pigmentosa [RCV000310833]|not provided [RCV001712052] |
Chr19:47836231 [GRCh38] Chr19:48339488 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*996C>G |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000328839]|Leber congenital amaurosis 7 [RCV000271568]|Retinitis pigmentosa [RCV000363813] |
Chr19:47840963 [GRCh38] Chr19:48344220 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_000554.6(CRX):c.*3285C>G |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000381913]|Leber congenital amaurosis 7 [RCV000272632]|Retinitis pigmentosa [RCV000327753] |
Chr19:47843252 [GRCh38] Chr19:48346509 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*308AAG[2] |
microsatellite |
Cone-Rod Dystrophy, Dominant [RCV000290830]|Leber congenital amaurosis [RCV000385027]|Retinitis Pigmentosa, Dominant [RCV000325778]|not provided [RCV001672556] |
Chr19:47840275..47840277 [GRCh38] Chr19:48343532..48343534 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*1046C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000367238]|Leber congenital amaurosis 7 [RCV000332209]|Retinitis pigmentosa [RCV000274819] |
Chr19:47841013 [GRCh38] Chr19:48344270 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*860C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000383228]|Leber congenital amaurosis 7 [RCV000328577]|Retinitis pigmentosa [RCV000293311] |
Chr19:47840827 [GRCh38] Chr19:48344084 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*2880T>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000333201]|Leber congenital amaurosis 7 [RCV000259323]|Retinitis pigmentosa [RCV000372681]|not provided [RCV003422307] |
Chr19:47842847 [GRCh38] Chr19:48346104 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_000554.6(CRX):c.*3279C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000276002]|Leber congenital amaurosis 7 [RCV000367274]|Retinitis pigmentosa [RCV000331297] |
Chr19:47843246 [GRCh38] Chr19:48346503 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*579T>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000294852]|Leber congenital amaurosis 7 [RCV000388979]|Retinitis pigmentosa [RCV000317184] |
Chr19:47840546 [GRCh38] Chr19:48343803 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*907C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000389055]|Leber congenital amaurosis 7 [RCV000294665]|Retinitis pigmentosa [RCV000329861] |
Chr19:47840874 [GRCh38] Chr19:48344131 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2739G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000295144]|Leber congenital amaurosis 7 [RCV000335037]|Retinitis pigmentosa [RCV000389522] |
Chr19:47842706 [GRCh38] Chr19:48345963 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_000554.6(CRX):c.*1063C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000316933]|Leber congenital amaurosis 7 [RCV000278440]|Retinitis pigmentosa [RCV000389210] |
Chr19:47841030 [GRCh38] Chr19:48344287 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*1917G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000278381]|Leber congenital amaurosis 7 [RCV000351076]|Retinitis pigmentosa [RCV000389164] |
Chr19:47841884 [GRCh38] Chr19:48345141 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_000554.6(CRX):c.-39G>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000295894]|Leber congenital amaurosis 7 [RCV000348513]|Retinitis pigmentosa [RCV000398101] |
Chr19:47822007 [GRCh38] Chr19:48325264 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*1671G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000355561]|Leber congenital amaurosis 7 [RCV000263094]|Retinitis pigmentosa [RCV000298249] |
Chr19:47841638 [GRCh38] Chr19:48344895 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*2717G>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000280021]|Leber congenital amaurosis 7 [RCV000320515]|Retinitis pigmentosa [RCV000374618] |
Chr19:47842684 [GRCh38] Chr19:48345941 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*769G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000263767]|Leber congenital amaurosis 7 [RCV000353978]|Retinitis pigmentosa [RCV000299184] |
Chr19:47840736 [GRCh38] Chr19:48343993 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.28C>G (p.His10Asp) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000280624]|Leber congenital amaurosis 7 [RCV000401704]|Leber congenital amaurosis 7 [RCV001087610]|Retinitis pigmentosa [RCV000787830]|not provided [RCV000878021] |
Chr19:47834471 [GRCh38] Chr19:48337728 [GRCh37] Chr19:19q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000554.6(CRX):c.*756dup |
duplication |
Cone-Rod Dystrophy, Dominant [RCV000319291]|Leber congenital amaurosis [RCV000259394]|Retinitis Pigmentosa, Dominant [RCV000373984] |
Chr19:47840703..47840704 [GRCh38] Chr19:48343960..48343961 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2183T>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000366857]|Leber congenital amaurosis 7 [RCV000396142]|Retinitis pigmentosa [RCV000309617] |
Chr19:47842150 [GRCh38] Chr19:48345407 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*2758C>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000394054]|Leber congenital amaurosis 7 [RCV000350125]|Retinitis pigmentosa [RCV000310418] |
Chr19:47842725 [GRCh38] Chr19:48345982 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*252C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000270846]|Leber congenital amaurosis 7 [RCV000360805]|Retinitis pigmentosa [RCV000320402] |
Chr19:47840219 [GRCh38] Chr19:48343476 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*908G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000335632]|Leber congenital amaurosis 7 [RCV000397653]|Retinitis pigmentosa [RCV000281884] |
Chr19:47840875 [GRCh38] Chr19:48344132 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2106C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000273084]|Leber congenital amaurosis 7 [RCV000330531]|Retinitis pigmentosa [RCV000364650] |
Chr19:47842073 [GRCh38] Chr19:48345330 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*527C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000329783]|Leber congenital amaurosis 7 [RCV000274724]|Retinitis pigmentosa [RCV000364444] |
Chr19:47840494 [GRCh38] Chr19:48343751 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*682C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000398573]|Leber congenital amaurosis 7 [RCV000312437]|Retinitis pigmentosa [RCV000367168] |
Chr19:47840649 [GRCh38] Chr19:48343906 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*767G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000390415]|Leber congenital amaurosis 7 [RCV000352814]|Retinitis pigmentosa [RCV000311981] |
Chr19:47840734 [GRCh38] Chr19:48343991 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_000554.6(CRX):c.*2299C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000313261]|Leber congenital amaurosis 7 [RCV000370276]|Retinitis pigmentosa [RCV000398419] |
Chr19:47842266 [GRCh38] Chr19:48345523 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.618C>T (p.Ser206=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV000954354]|not specified [RCV000341530] |
Chr19:47839685 [GRCh38] Chr19:48342942 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*2573C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000367217]|Leber congenital amaurosis 7 [RCV000272269]|Retinitis pigmentosa [RCV000312576] |
Chr19:47842540 [GRCh38] Chr19:48345797 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2113A>G |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000276431]|Leber congenital amaurosis 7 [RCV000368889]|Retinitis pigmentosa [RCV000333843] |
Chr19:47842080 [GRCh38] Chr19:48345337 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*683G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000277286]|Leber congenital amaurosis 7 [RCV000313603]|Retinitis pigmentosa [RCV000354250] |
Chr19:47840650 [GRCh38] Chr19:48343907 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*1289G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000354639]|Leber congenital amaurosis 7 [RCV000297489]|Retinitis pigmentosa [RCV000277515] |
Chr19:47841256 [GRCh38] Chr19:48344513 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*1621_*1623dup |
duplication |
Cone-Rod Dystrophy, Dominant [RCV000348287]|Leber congenital amaurosis [RCV000396442]|Retinitis Pigmentosa, Dominant [RCV000291052] |
Chr19:47841571..47841572 [GRCh38] Chr19:48344828..48344829 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.857T>C (p.Leu286Pro) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000380030]|Inborn genetic diseases [RCV002521241]|Leber congenital amaurosis 7 [RCV000323112]|Leber congenital amaurosis 7 [RCV002521240]|Retinitis pigmentosa [RCV000260824] |
Chr19:47839924 [GRCh38] Chr19:48343181 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*400A>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000279125]|Leber congenital amaurosis 7 [RCV000351163]|Retinitis pigmentosa [RCV000398174] |
Chr19:47840367 [GRCh38] Chr19:48343624 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*2137G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000318530]|Leber congenital amaurosis 7 [RCV000372070]|Retinitis pigmentosa [RCV000279799] |
Chr19:47842104 [GRCh38] Chr19:48345361 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_000554.6(CRX):c.717C>A (p.Gly239=) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000261856]|Leber congenital amaurosis 7 [RCV000319418]|Leber congenital amaurosis 7 [RCV002057520]|Retinitis pigmentosa [RCV000371926] |
Chr19:47839784 [GRCh38] Chr19:48343041 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_000554.6(CRX):c.*679G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000306740]|Leber congenital amaurosis 7 [RCV000390337]|Retinitis pigmentosa [RCV000347574] |
Chr19:47840646 [GRCh38] Chr19:48343903 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*1122G>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000338965]|Leber congenital amaurosis 7 [RCV000373918]|Retinitis pigmentosa [RCV000281627] |
Chr19:47841089 [GRCh38] Chr19:48344346 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.105C>A (p.Ala35=) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000389392]|Leber congenital amaurosis 7 [RCV000333028]|Retinitis pigmentosa [RCV000273977] |
Chr19:47836247 [GRCh38] Chr19:48339504 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2039C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000361147]|Leber congenital amaurosis 7 [RCV000401185]|Retinitis pigmentosa [RCV000307672] |
Chr19:47842006 [GRCh38] Chr19:48345263 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000402156]|Leber congenital amaurosis 7 [RCV000307457]|Leber congenital amaurosis 7 [RCV000955564]|Retinitis pigmentosa [RCV000369179]|not specified [RCV000615113] |
Chr19:47839618 [GRCh38] Chr19:48342875 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*2155G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000375950]|Leber congenital amaurosis 7 [RCV000341233]|Retinitis pigmentosa [RCV000283747] |
Chr19:47842122 [GRCh38] Chr19:48345379 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*6G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000340719]|Leber congenital amaurosis 7 [RCV000383663]|Retinitis pigmentosa [RCV000283331] |
Chr19:47839973 [GRCh38] Chr19:48343230 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_000554.6(CRX):c.*1309T>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000262703]|Leber congenital amaurosis 7 [RCV000320228]|Retinitis pigmentosa [RCV000377055] |
Chr19:47841276 [GRCh38] Chr19:48344533 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*1148G>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000285370]|Leber congenital amaurosis 7 [RCV000342568]|Retinitis pigmentosa [RCV000396220] |
Chr19:47841115 [GRCh38] Chr19:48344372 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.*2171C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000396134]|Leber congenital amaurosis 7 [RCV000287172]|Retinitis pigmentosa [RCV000344513] |
Chr19:47842138 [GRCh38] Chr19:48345395 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*3301T>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000287438]|Leber congenital amaurosis 7 [RCV000378432]|Retinitis pigmentosa [RCV000323868] |
Chr19:47843268 [GRCh38] Chr19:48346525 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.448del (p.Ser150fs) |
deletion |
not provided [RCV000353578] |
Chr19:47839515 [GRCh38] Chr19:48342772 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.*2396C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000289359]|Leber congenital amaurosis 7 [RCV000380212]|Retinitis pigmentosa [RCV000325633] |
Chr19:47842363 [GRCh38] Chr19:48345620 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*2937T>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000345551]|Leber congenital amaurosis 7 [RCV000290633]|Retinitis pigmentosa [RCV000384422] |
Chr19:47842904 [GRCh38] Chr19:48346161 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*118C>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000401350]|Leber congenital amaurosis 7 [RCV000293631]|Retinitis pigmentosa [RCV000348576] |
Chr19:47840085 [GRCh38] Chr19:48343342 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_000554.6(CRX):c.*1220G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000313107]|Leber congenital amaurosis 7 [RCV000399628]|Retinitis pigmentosa [RCV000370130] |
Chr19:47841187 [GRCh38] Chr19:48344444 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*2375G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000259395]|Leber congenital amaurosis 7 [RCV000316943]|Retinitis pigmentosa [RCV000355469] |
Chr19:47842342 [GRCh38] Chr19:48345599 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*1900del |
deletion |
Cone-Rod Dystrophy, Dominant [RCV000328909]|Leber congenital amaurosis [RCV000385852]|Retinitis Pigmentosa, Dominant [RCV000293870] |
Chr19:47841858 [GRCh38] Chr19:48345115 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*3238G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000398918]|Leber congenital amaurosis 7 [RCV000297317]|Retinitis pigmentosa [RCV000370735] |
Chr19:47843205 [GRCh38] Chr19:48346462 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*2559G>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000352013]|Leber congenital amaurosis 7 [RCV000402061]|Retinitis pigmentosa [RCV000297411] |
Chr19:47842526 [GRCh38] Chr19:48345783 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*1759G>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000359083]|Leber congenital amaurosis 7 [RCV000301913]|Retinitis pigmentosa [RCV000267014] |
Chr19:47841726 [GRCh38] Chr19:48344983 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2380C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000377544]|Leber congenital amaurosis 7 [RCV000262999]|Retinitis pigmentosa [RCV000320552] |
Chr19:47842347 [GRCh38] Chr19:48345604 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*2850G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000358596]|Leber congenital amaurosis 7 [RCV000318013]|Retinitis pigmentosa [RCV000263803] |
Chr19:47842817 [GRCh38] Chr19:48346074 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*809C>G |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000300262]|Leber congenital amaurosis 7 [RCV000264833]|Retinitis pigmentosa [RCV000359592] |
Chr19:47840776 [GRCh38] Chr19:48344033 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.102C>T (p.Ser34=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV000946108]|not specified [RCV000402665] |
Chr19:47836244 [GRCh38] Chr19:48339501 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*234G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000300377]|Leber congenital amaurosis 7 [RCV000355260]|Retinitis pigmentosa [RCV000265328] |
Chr19:47840201 [GRCh38] Chr19:48343458 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*966G>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000400727]|Leber congenital amaurosis 7 [RCV000337031]|Retinitis pigmentosa [RCV000301974] |
Chr19:47840933 [GRCh38] Chr19:48344190 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*2017C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000339044]|Leber congenital amaurosis 7 [RCV000303937]|Retinitis pigmentosa [RCV000400217] |
Chr19:47841984 [GRCh38] Chr19:48345241 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.403C>A (p.Pro135Thr) |
single nucleotide variant |
not provided [RCV000266571] |
Chr19:47839470 [GRCh38] Chr19:48342727 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2821G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000303813]|Leber congenital amaurosis 7 [RCV000267436]|Retinitis pigmentosa [RCV000362112] |
Chr19:47842788 [GRCh38] Chr19:48346045 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2602C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000363273]|Leber congenital amaurosis 7 [RCV000268734]|Retinitis pigmentosa [RCV000308708] |
Chr19:47842569 [GRCh38] Chr19:48345826 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.*839C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000268811]|Leber congenital amaurosis 7 [RCV000360764]|Retinitis pigmentosa [RCV000324810] |
Chr19:47840806 [GRCh38] Chr19:48344063 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*972C>G |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000400555]|Leber congenital amaurosis 7 [RCV000306820]|Retinitis pigmentosa [RCV000361408] |
Chr19:47840939 [GRCh38] Chr19:48344196 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.404del (p.Pro135fs) |
deletion |
Leber congenital amaurosis 7 [RCV001202810]|not provided [RCV000488002] |
Chr19:47839469 [GRCh38] Chr19:48342726 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic |
NM_000554.6(CRX):c.*756T>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000292013]|Leber congenital amaurosis 7 [RCV000394106]|Retinitis pigmentosa [RCV000346864] |
Chr19:47840723 [GRCh38] Chr19:48343980 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*435del |
deletion |
Cone-Rod Dystrophy, Dominant [RCV000304096]|Leber congenital amaurosis [RCV000358407]|Retinitis Pigmentosa, Dominant [RCV000400415] |
Chr19:47840392 [GRCh38] Chr19:48343649 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2889G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000387803]|Leber congenital amaurosis 7 [RCV000348448]|Retinitis pigmentosa [RCV000293513] |
Chr19:47842856 [GRCh38] Chr19:48346113 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.33(chr19:48242225-48399399)x3 |
copy number gain |
not provided [RCV000584905] |
Chr19:48242225..48399399 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*746T>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000345716]|Leber congenital amaurosis 7 [RCV000285282]|Retinitis pigmentosa [RCV000381687] |
Chr19:47840713 [GRCh38] Chr19:48343970 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2785C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000394056]|Leber congenital amaurosis 7 [RCV000346975]|Retinitis pigmentosa [RCV000307332] |
Chr19:47842752 [GRCh38] Chr19:48346009 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.327G>A (p.Gly109=) |
single nucleotide variant |
not provided [RCV000585586] |
Chr19:47839394 [GRCh38] Chr19:48342651 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*392G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000296826]|Leber congenital amaurosis 7 [RCV000331801]|Retinitis pigmentosa [RCV000386432] |
Chr19:47840359 [GRCh38] Chr19:48343616 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*1149G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000366436]|Leber congenital amaurosis 7 [RCV000309505]|Retinitis pigmentosa [RCV000396149] |
Chr19:47841116 [GRCh38] Chr19:48344373 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2952G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000287041]|Leber congenital amaurosis 7 [RCV000396052]|Retinitis pigmentosa [RCV000341936] |
Chr19:47842919 [GRCh38] Chr19:48346176 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.78G>A (p.Met26Ile) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000341362]|Leber congenital amaurosis 7 [RCV000391648]|Retinitis pigmentosa [RCV000298080] |
Chr19:47834521 [GRCh38] Chr19:48337778 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.-55C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000326410]|Leber congenital amaurosis 7 [RCV000287829]|Retinitis pigmentosa [RCV000387930] |
Chr19:47821991 [GRCh38] Chr19:48325248 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*132G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000354310]|Leber congenital amaurosis 7 [RCV000313408]|Retinitis pigmentosa [RCV000392519] |
Chr19:47840099 [GRCh38] Chr19:48343356 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*1654dup |
duplication |
Cone-Rod Dystrophy, Dominant [RCV000351969]|Leber congenital amaurosis [RCV000313469]|Retinitis Pigmentosa, Dominant [RCV000401243] |
Chr19:47841617..47841618 [GRCh38] Chr19:48344874..48344875 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.332A>G (p.Gln111Arg) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001860176]|not provided [RCV000591774] |
Chr19:47839399 [GRCh38] Chr19:48342656 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.856_865delinsGATCCC (p.Leu286fs) |
indel |
not provided [RCV000593482] |
Chr19:47839923..47839932 [GRCh38] Chr19:48343180..48343189 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.565del (p.Ala189fs) |
deletion |
Leber congenital amaurosis 7 [RCV000735752] |
Chr19:47839632 [GRCh38] Chr19:48342889 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
GRCh37/hg19 19q13.33(chr19:48334930-48402210)x1 |
copy number loss |
See cases [RCV000446670] |
Chr19:48334930..48402210 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.119G>A (p.Arg40Gln) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001857203]|Retinal dystrophy [RCV000504788] |
Chr19:47836261 [GRCh38] Chr19:48339518 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic |
NM_000554.6(CRX):c.295C>T (p.Gln99Ter) |
single nucleotide variant |
Macular dystrophy [RCV000505016] |
Chr19:47839362 [GRCh38] Chr19:48342619 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.448_449del (p.Ser150fs) |
deletion |
Retinitis pigmentosa [RCV000504684] |
Chr19:47839514..47839515 [GRCh38] Chr19:48342771..48342772 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.100+3_100+5delinsTTA |
indel |
Leber congenital amaurosis 7 [RCV001054464]|not provided [RCV000485254] |
Chr19:47834546..47834548 [GRCh38] Chr19:48337803..48337805 [GRCh37] Chr19:19q13.33 |
likely pathogenic|uncertain significance |
GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1 |
copy number loss |
See cases [RCV000511362] |
Chr19:46404248..48488721 [GRCh37] Chr19:19q13.32-13.33 |
likely pathogenic |
NM_000554.6(CRX):c.380C>T (p.Pro127Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003291753] |
Chr19:47839447 [GRCh38] Chr19:48342704 [GRCh37] Chr19:19q13.33 |
uncertain significance |
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_000554.6(CRX):c.164dup (p.Ala56fs) |
duplication |
not provided [RCV000627476] |
Chr19:47836305..47836306 [GRCh38] Chr19:48339562..48339563 [GRCh37] Chr19:19q13.33 |
likely 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 |
NM_000554.6(CRX):c.568C>T (p.Pro190Ser) |
single nucleotide variant |
not provided [RCV000658253] |
Chr19:47839635 [GRCh38] Chr19:48342892 [GRCh37] Chr19:19q13.33 |
uncertain significance |
Single allele |
deletion |
not provided [RCV000677996] |
Chr19:47801523..47842272 [GRCh38] Chr19:48304780..48345529 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.33(chr19:48303876-48402211)x1 |
copy number loss |
not provided [RCV000684070] |
Chr19:48303876..48402211 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.205C>T (p.Arg69Cys) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002531393]|Retinal dystrophy [RCV001074637]|Retinitis pigmentosa [RCV000678552] |
Chr19:47836347 [GRCh38] Chr19:48339604 [GRCh37] Chr19:19q13.33 |
pathogenic|uncertain significance |
GRCh37/hg19 19q13.33(chr19:48206212-48431087)x3 |
copy number gain |
not provided [RCV000684075] |
Chr19:48206212..48431087 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.101-200T>C |
single nucleotide variant |
not provided [RCV001530919] |
Chr19:47836043 [GRCh38] Chr19:48339300 [GRCh37] Chr19:19q13.33 |
benign |
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 |
NM_000554.6(CRX):c.-35-150T>C |
single nucleotide variant |
not provided [RCV001644199] |
Chr19:47834259 [GRCh38] Chr19:48337516 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.464C>T (p.Thr155Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002553971]|Leber congenital amaurosis 7 [RCV001065192] |
Chr19:47839531 [GRCh38] Chr19:48342788 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*1684G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001133217]|Leber congenital amaurosis 7 [RCV001132283]|Retinitis pigmentosa [RCV001132282] |
Chr19:47841651 [GRCh38] Chr19:48344908 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_000554.6(CRX):c.570dup (p.Tyr191fs) |
duplication |
Cone-rod dystrophy 2 [RCV001544506] |
Chr19:47839632..47839633 [GRCh38] Chr19:48342889..48342890 [GRCh37] Chr19:19q13.33 |
pathogenic |
NC_000019.10:g.(?_47801775)_(47886257_?)del |
deletion |
Leber congenital amaurosis 7 [RCV001031387] |
Chr19:48305032..48389514 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*3077C>G |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001135151]|Leber congenital amaurosis 7 [RCV001135153]|Retinitis pigmentosa [RCV001135152] |
Chr19:47843044 [GRCh38] Chr19:48346301 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.10:g.(?_47839320)_(47839967_?)del |
deletion |
Leber congenital amaurosis 7 [RCV001031529] |
Chr19:48342577..48343224 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.127C>T (p.Arg43Cys) |
single nucleotide variant |
Cone-rod dystrophy [RCV000787585]|Leber congenital amaurosis 7 [RCV001869190] |
Chr19:47836269 [GRCh38] Chr19:48339526 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic |
NM_000554.6(CRX):c.*2402G>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001133407]|Leber congenital amaurosis 7 [RCV001133408]|Retinitis pigmentosa [RCV001133409] |
Chr19:47842369 [GRCh38] Chr19:48345626 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*205G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001131822]|Leber congenital amaurosis 7 [RCV001131820]|Retinitis pigmentosa [RCV001131821] |
Chr19:47840172 [GRCh38] Chr19:48343429 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.10:g.(?_47834444)_(47836394_?)del |
deletion |
Leber congenital amaurosis 7 [RCV001032092] |
Chr19:48337701..48339651 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.273G>A (p.Arg91=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001494755] |
Chr19:47839340 [GRCh38] Chr19:48342597 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.367A>G (p.Thr123Ala) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002066221] |
Chr19:47839434 [GRCh38] Chr19:48342691 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.100+8C>T |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV000937282] |
Chr19:47834551 [GRCh38] Chr19:48337808 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.723C>T (p.Ser241=) |
single nucleotide variant |
not provided [RCV000919926] |
Chr19:47839790 [GRCh38] Chr19:48343047 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.684_685delinsAA (p.Leu229Ile) |
indel |
Leber congenital amaurosis 7 [RCV001862603]|Retinal dystrophy [RCV001075242] |
Chr19:47839751..47839752 [GRCh38] Chr19:48343008..48343009 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.378A>C (p.Arg126Ser) |
single nucleotide variant |
Retinal dystrophy [RCV001075650] |
Chr19:47839445 [GRCh38] Chr19:48342702 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.43G>C (p.Ala15Pro) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002554773]|Retinal dystrophy [RCV001075819] |
Chr19:47834486 [GRCh38] Chr19:48337743 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.586del (p.Ala196fs) |
deletion |
Retinal dystrophy [RCV001075865] |
Chr19:47839653 [GRCh38] Chr19:48342910 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.239A>G (p.Glu80Gly) |
single nucleotide variant |
Retinal dystrophy [RCV001073303] |
Chr19:47836381 [GRCh38] Chr19:48339638 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.118C>T (p.Arg40Trp) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001352999]|Leber congenital amaurosis 7 [RCV001071559]|Retinal dystrophy [RCV001075179]|not provided [RCV003318660] |
Chr19:47836260 [GRCh38] Chr19:48339517 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic|uncertain significance |
NM_000554.6(CRX):c.873G>T (p.Gln291His) |
single nucleotide variant |
Retinal dystrophy [RCV001074125] |
Chr19:47839940 [GRCh38] Chr19:48343197 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.10:g.(?_47818438)_(47886257_?)del |
deletion |
Leber congenital amaurosis 7 [RCV001033057] |
Chr19:48321695..48389514 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536) |
copy number gain |
not provided [RCV000767770] |
Chr19:47036361..48525536 [GRCh37] Chr19:19q13.32-13.33 |
pathogenic |
NM_000554.6(CRX):c.276T>G (p.Ala92=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV000949190] |
Chr19:47839343 [GRCh38] Chr19:48342600 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.827G>A (p.Trp276Ter) |
single nucleotide variant |
Stargardt disease [RCV000787588] |
Chr19:47839894 [GRCh38] Chr19:48343151 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 |
copy number gain |
not provided [RCV000848800] |
Chr19:48119589..49595956 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*79C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001136108]|Leber congenital amaurosis 7 [RCV001136110]|Retinitis pigmentosa [RCV001136109] |
Chr19:47840046 [GRCh38] Chr19:48343303 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.766C>T (p.Gln256Ter) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV002249668]|Leber congenital amaurosis 7 [RCV001067544] |
Chr19:47839833 [GRCh38] Chr19:48343090 [GRCh37] Chr19:19q13.33 |
likely pathogenic|uncertain significance |
NM_000554.6(CRX):c.*2225A>G |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001134771]|Leber congenital amaurosis 7 [RCV001134773]|Retinitis pigmentosa [RCV001134772] |
Chr19:47842192 [GRCh38] Chr19:48345449 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 |
copy number gain |
not provided [RCV000845733] |
Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33 |
pathogenic |
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 |
copy number gain |
not provided [RCV001007050] |
Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42 |
pathogenic |
NM_000554.6(CRX):c.651C>T (p.Gly217=) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001129012]|Leber congenital amaurosis 7 [RCV001131693]|Retinitis pigmentosa [RCV001129011] |
Chr19:47839718 [GRCh38] Chr19:48342975 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2544G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001134891]|Leber congenital amaurosis 7 [RCV001134889]|Retinitis pigmentosa [RCV001134890] |
Chr19:47842511 [GRCh38] Chr19:48345768 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.565G>C (p.Ala189Pro) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001135986]|Inborn genetic diseases [RCV002556891]|Leber congenital amaurosis 7 [RCV001135988]|Leber congenital amaurosis 7 [RCV001349508]|Retinitis pigmentosa [RCV001135987] |
Chr19:47839632 [GRCh38] Chr19:48342889 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.765C>T (p.Gly255=) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001131695]|Leber congenital amaurosis 7 [RCV001131694]|Leber congenital amaurosis 7 [RCV001213963]|Retinitis pigmentosa [RCV001131696] |
Chr19:47839832 [GRCh38] Chr19:48343089 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_000554.6(CRX):c.*1223A>G |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001133100]|Leber congenital amaurosis 7 [RCV001134574]|Retinitis pigmentosa [RCV001133101] |
Chr19:47841190 [GRCh38] Chr19:48344447 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.381dup (p.Ser128fs) |
duplication |
Stargardt disease [RCV000787586] |
Chr19:47839445..47839446 [GRCh38] Chr19:48342702..48342703 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.4:c.(?_-1)_(*1_?)dup |
duplication |
Retinitis pigmentosa [RCV000787928] |
Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.684G>C (p.Gln228His) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002536890]|Retinitis pigmentosa [RCV000787587] |
Chr19:47839751 [GRCh38] Chr19:48343008 [GRCh37] Chr19:19q13.33 |
likely pathogenic|uncertain significance |
NM_000554.6(CRX):c.*366C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001132803]|Leber congenital amaurosis 7 [RCV001132804]|Retinitis pigmentosa [RCV001136199] |
Chr19:47840333 [GRCh38] Chr19:48343590 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
GRCh37/hg19 19q13.33(chr19:48043102-48402210)x3 |
copy number gain |
not provided [RCV001007054] |
Chr19:48043102..48402210 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2040G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001129661]|Leber congenital amaurosis 7 [RCV001129660]|Retinitis pigmentosa [RCV001129662] |
Chr19:47842007 [GRCh38] Chr19:48345264 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) |
deletion |
Leber congenital amaurosis 1 [RCV000990237]|Leber congenital amaurosis 7 [RCV001233804] |
Chr19:47839567..47839568 [GRCh38] Chr19:48342824..48342825 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.253-7C>G |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001226784] |
Chr19:47839313 [GRCh38] Chr19:48342570 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.581C>A (p.Thr194Asn) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001213857] |
Chr19:47839648 [GRCh38] Chr19:48342905 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.487T>C (p.Trp163Arg) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001242594]|not provided [RCV002285462] |
Chr19:47839554 [GRCh38] Chr19:48342811 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.258G>C (p.Trp86Cys) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001223743] |
Chr19:47839325 [GRCh38] Chr19:48342582 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.343C>T (p.Arg115Trp) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001226434] |
Chr19:47839410 [GRCh38] Chr19:48342667 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.512del (p.Leu171fs) |
deletion |
Leber congenital amaurosis 7 [RCV001250584]|Leber congenital amaurosis 7 [RCV001879781] |
Chr19:47839577 [GRCh38] Chr19:48342834 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.816del (p.Thr273fs) |
deletion |
Leber congenital amaurosis 7 [RCV001250590] |
Chr19:47839880 [GRCh38] Chr19:48343137 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.191del (p.Pro64fs) |
deletion |
Leber congenital amaurosis 7 [RCV001250591] |
Chr19:47836331 [GRCh38] Chr19:48339588 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.585C>A (p.Tyr195Ter) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001250588] |
Chr19:47839652 [GRCh38] Chr19:48342909 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.450del (p.Gly151fs) |
deletion |
Leber congenital amaurosis 7 [RCV001250659] |
Chr19:47839517 [GRCh38] Chr19:48342774 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.*2404C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001133412]|Leber congenital amaurosis 7 [RCV001133410]|Retinitis pigmentosa [RCV001133411] |
Chr19:47842371 [GRCh38] Chr19:48345628 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2979T>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001133657]|Leber congenital amaurosis 7 [RCV001133656]|Retinitis pigmentosa [RCV001133655] |
Chr19:47842946 [GRCh38] Chr19:48346203 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.491G>A (p.Ser164Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002555842]|Leber congenital amaurosis 7 [RCV001065467] |
Chr19:47839558 [GRCh38] Chr19:48342815 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.523C>T (p.Gln175Ter) |
single nucleotide variant |
Congenital blindness [RCV002287485]|Leber congenital amaurosis 7 [RCV001250585]|Leber congenital amaurosis 7 [RCV002570426] |
Chr19:47839590 [GRCh38] Chr19:48342847 [GRCh37] Chr19:19q13.33 |
pathogenic|uncertain significance |
NM_000554.6(CRX):c.458del (p.Pro153fs) |
deletion |
Leber congenital amaurosis 7 [RCV001250660] |
Chr19:47839522 [GRCh38] Chr19:48342779 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.406C>T (p.Leu136=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003104932] |
Chr19:47839473 [GRCh38] Chr19:48342730 [GRCh37] Chr19:19q13.33 |
likely benign |
NC_000019.9:g.(?_48337701)_(48337820_?)del |
deletion |
Leber congenital amaurosis 7 [RCV003105259] |
Chr19:48337701..48337820 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_48339480)_(48343224_?)del |
deletion |
Leber congenital amaurosis 7 [RCV003105260] |
Chr19:48339480..48343224 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.445_467del (p.Pro149fs) |
deletion |
not provided [RCV003233176] |
Chr19:47839508..47839530 [GRCh38] Chr19:48342765..48342787 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.-35-120A>G |
single nucleotide variant |
not provided [RCV001610181] |
Chr19:47834289 [GRCh38] Chr19:48337546 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.100+97G>A |
single nucleotide variant |
not provided [RCV001659574] |
Chr19:47834640 [GRCh38] Chr19:48337897 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.101-147A>G |
single nucleotide variant |
not provided [RCV001718203] |
Chr19:47836096 [GRCh38] Chr19:48339353 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.591G>A (p.Pro197=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002065581] |
Chr19:47839658 [GRCh38] Chr19:48342915 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.129C>T (p.Arg43=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV000907965] |
Chr19:47836271 [GRCh38] Chr19:48339528 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.123G>A (p.Arg41=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002540805] |
Chr19:47836265 [GRCh38] Chr19:48339522 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.570C>A (p.Pro190=) |
single nucleotide variant |
not provided [RCV000954776] |
Chr19:47839637 [GRCh38] Chr19:48342894 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.380C>A (p.Pro127His) |
single nucleotide variant |
not provided [RCV001093248] |
Chr19:47839447 [GRCh38] Chr19:48342704 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.100+3G>C |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001244584] |
Chr19:47834546 [GRCh38] Chr19:48337803 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*1330C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001129550]|Leber congenital amaurosis 7 [RCV001129549]|Retinitis pigmentosa [RCV001134575] |
Chr19:47841297 [GRCh38] Chr19:48344554 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.33(chr19:48328087-48339179) |
copy number loss |
Leber congenital amaurosis 7 [RCV001195137] |
Chr19:48328087..48339179 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.489G>A (p.Trp163Ter) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001250583] |
Chr19:47839556 [GRCh38] Chr19:48342813 [GRCh37] Chr19:19q13.33 |
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_000554.6(CRX):c.344G>A (p.Arg115Gln) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001222808] |
Chr19:47839411 [GRCh38] Chr19:48342668 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2935G>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001130700]|Leber congenital amaurosis 7 [RCV001130699]|Retinitis pigmentosa [RCV001130701] |
Chr19:47842902 [GRCh38] Chr19:48346159 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.590C>T (p.Pro197Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002563962]|Leber congenital amaurosis 7 [RCV001239949] |
Chr19:47839657 [GRCh38] Chr19:48342914 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.-46C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001131446]|Leber congenital amaurosis 7 [RCV001131448]|Retinitis pigmentosa [RCV001131447] |
Chr19:47822000 [GRCh38] Chr19:48325257 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.606C>T (p.Cys202=) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001129005]|Leber congenital amaurosis 7 [RCV001129006]|Leber congenital amaurosis 7 [RCV002558263]|Retinitis pigmentosa [RCV001129007] |
Chr19:47839673 [GRCh38] Chr19:48342930 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NC_000019.10:g.(?_47839300)_(47839987_?)del |
deletion |
Leber congenital amaurosis 7 [RCV001031334] |
Chr19:48342557..48343244 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.252+8G>C |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002065849] |
Chr19:47836402 [GRCh38] Chr19:48339659 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.480_481del (p.Ser161fs) |
microsatellite |
Leber congenital amaurosis 1 [RCV000990236] |
Chr19:47839544..47839545 [GRCh38] Chr19:48342801..48342802 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.533_545dup (p.Gly183fs) |
duplication |
Cone-rod dystrophy 2 [RCV002251170] |
Chr19:47839599..47839600 [GRCh38] Chr19:48342856..48342857 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.253-242C>T |
single nucleotide variant |
not provided [RCV001659103] |
Chr19:47839078 [GRCh38] Chr19:48342335 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.253-282G>A |
single nucleotide variant |
not provided [RCV001678024] |
Chr19:47839038 [GRCh38] Chr19:48342295 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.253-235C>T |
single nucleotide variant |
not provided [RCV001637846] |
Chr19:47839085 [GRCh38] Chr19:48342342 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*110C>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001136112]|Leber congenital amaurosis 7 [RCV001129134]|Retinitis pigmentosa [RCV001136111] |
Chr19:47840077 [GRCh38] Chr19:48343334 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*117T>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001129135]|Leber congenital amaurosis 7 [RCV001129136]|Retinitis pigmentosa [RCV001129137] |
Chr19:47840084 [GRCh38] Chr19:48343341 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_000554.6(CRX):c.*498G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001129243]|Leber congenital amaurosis 7 [RCV001129244]|Retinitis pigmentosa [RCV001129242] |
Chr19:47840465 [GRCh38] Chr19:48343722 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2357G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001129789]|Leber congenital amaurosis 7 [RCV001129790]|Retinitis pigmentosa [RCV001129788] |
Chr19:47842324 [GRCh38] Chr19:48345581 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*3099C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001130121]|Leber congenital amaurosis 7 [RCV001135155]|Retinitis pigmentosa [RCV001135154] |
Chr19:47843066 [GRCh38] Chr19:48346323 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2580G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001129866]|Leber congenital amaurosis 7 [RCV001129867]|Retinitis pigmentosa [RCV001129868] |
Chr19:47842547 [GRCh38] Chr19:48345804 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2589T>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001130587]|Leber congenital amaurosis 7 [RCV001130586]|Retinitis pigmentosa [RCV001130585] |
Chr19:47842556 [GRCh38] Chr19:48345813 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.616T>C (p.Ser206Pro) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001129008]|Leber congenital amaurosis 7 [RCV001129009]|Retinitis pigmentosa [RCV001129010] |
Chr19:47839683 [GRCh38] Chr19:48342940 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.522_523dup (p.Gln175fs) |
microsatellite |
Leber congenital amaurosis 7 [RCV001542503] |
Chr19:47839586..47839587 [GRCh38] Chr19:48342843..48342844 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.253-213G>C |
single nucleotide variant |
not provided [RCV001645031] |
Chr19:47839107 [GRCh38] Chr19:48342364 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.*2343G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001129787]|Leber congenital amaurosis 7 [RCV001129785]|Retinitis pigmentosa [RCV001129786] |
Chr19:47842310 [GRCh38] Chr19:48345567 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.139A>C (p.Thr47Pro) |
single nucleotide variant |
Retinitis pigmentosa [RCV001198956] |
Chr19:47836281 [GRCh38] Chr19:48339538 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.594_606del (p.Ser199fs) |
deletion |
Leber congenital amaurosis 7 [RCV001040835]|Retinal dystrophy [RCV001073684] |
Chr19:47839659..47839671 [GRCh38] Chr19:48342916..48342928 [GRCh37] Chr19:19q13.33 |
pathogenic|uncertain significance |
NM_000554.6(CRX):c.152_153del (p.Leu51fs) |
deletion |
Leber congenital amaurosis 7 [RCV001215027] |
Chr19:47836294..47836295 [GRCh38] Chr19:48339551..48339552 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.313C>T (p.Gln105Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001074883] |
Chr19:47839380 [GRCh38] Chr19:48342637 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.431_434del (p.Pro144fs) |
deletion |
Retinal dystrophy [RCV001075115] |
Chr19:47839497..47839500 [GRCh38] Chr19:48342754..48342757 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic |
NM_000554.6(CRX):c.206G>A (p.Arg69His) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001238013]|not provided [RCV001093247] |
Chr19:47836348 [GRCh38] Chr19:48339605 [GRCh37] Chr19:19q13.33 |
pathogenic|uncertain significance |
NM_000554.6(CRX):c.549del (p.Pro184fs) |
deletion |
Leber congenital amaurosis 7 [RCV001250586] |
Chr19:47839614 [GRCh38] Chr19:48342871 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.570del (p.Tyr191fs) |
deletion |
Leber congenital amaurosis 7 [RCV001250587] |
Chr19:47839633 [GRCh38] Chr19:48342890 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs) |
deletion |
Leber congenital amaurosis 7 [RCV001208512] |
Chr19:47839728..47843005 [GRCh38] Chr19:48342985..48346262 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.8C>T (p.Ala3Val) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001057955] |
Chr19:47834451 [GRCh38] Chr19:48337708 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.400G>A (p.Asp134Asn) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001131567]|Leber congenital amaurosis 7 [RCV001131565]|Retinitis pigmentosa [RCV001131566] |
Chr19:47839467 [GRCh38] Chr19:48342724 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer) |
deletion |
Leber congenital amaurosis 7 [RCV001207853] |
Chr19:47839328..47839341 [GRCh38] Chr19:48342585..48342598 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.*272T>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001132801]|Leber congenital amaurosis 7 [RCV001132802]|Retinitis pigmentosa [RCV001132800] |
Chr19:47840239 [GRCh38] Chr19:48343496 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.433C>T (p.Pro145Ser) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001205889] |
Chr19:47839500 [GRCh38] Chr19:48342757 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*2611G>A |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001133531]|Leber congenital amaurosis 7 [RCV001130589]|Retinitis pigmentosa [RCV001130588] |
Chr19:47842578 [GRCh38] Chr19:48345835 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.128G>A (p.Arg43His) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001228802]|not provided [RCV001544775] |
Chr19:47836270 [GRCh38] Chr19:48339527 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic|uncertain significance |
NM_000554.6(CRX):c.898T>C (p.Ter300Gln) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001029942] |
Chr19:47839965 [GRCh38] Chr19:48343222 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.*727C>T |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001136330]|Leber congenital amaurosis 7 [RCV001136332]|Retinitis pigmentosa [RCV001136331] |
Chr19:47840694 [GRCh38] Chr19:48343951 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.407_416dup (p.Asp140fs) |
duplication |
Leber congenital amaurosis 7 [RCV001211671] |
Chr19:47839470..47839471 [GRCh38] Chr19:48342727..48342728 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.460A>G (p.Thr154Ala) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001131571]|Leber congenital amaurosis 7 [RCV001132600]|Leber congenital amaurosis 7 [RCV002558276]|Retinitis pigmentosa [RCV001131570] |
Chr19:47839527 [GRCh38] Chr19:48342784 [GRCh37] Chr19:19q13.33 |
benign|likely benign|uncertain significance |
NM_000554.6(CRX):c.437_449del (p.Leu146fs) |
deletion |
Leber congenital amaurosis 7 [RCV001379448]|Retinal dystrophy [RCV001073950] |
Chr19:47839498..47839510 [GRCh38] Chr19:48342755..48342767 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.*16T>C |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001132709]|Leber congenital amaurosis 7 [RCV001132707]|Retinitis pigmentosa [RCV001132708] |
Chr19:47839983 [GRCh38] Chr19:48343240 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_000554.6(CRX):c.621_623delinsTT (p.Tyr208fs) |
indel |
Retinal dystrophy [RCV001074100] |
Chr19:47839688..47839690 [GRCh38] Chr19:48342945..48342947 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.702T>C (p.Leu234=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001204784] |
Chr19:47839769 [GRCh38] Chr19:48343026 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.*3117A>G |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV001130122]|Leber congenital amaurosis 7 [RCV001130124]|Retinitis pigmentosa [RCV001130123] |
Chr19:47843084 [GRCh38] Chr19:48346341 [GRCh37] Chr19:19q13.33 |
benign|likely benign |
NM_000554.6(CRX):c.101-1G>T |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001063855] |
Chr19:47836242 [GRCh38] Chr19:48339499 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.292C>T (p.Arg98Ter) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001879957]|Retinitis pigmentosa [RCV001256189] |
Chr19:47839359 [GRCh38] Chr19:48342616 [GRCh37] Chr19:19q13.33 |
pathogenic|uncertain significance |
NM_000554.6(CRX):c.29A>G (p.His10Arg) |
single nucleotide variant |
Usher syndrome [RCV001260906] |
Chr19:47834472 [GRCh38] Chr19:48337729 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.501dup (p.Glu168fs) |
duplication |
not provided [RCV001268634] |
Chr19:47839567..47839568 [GRCh38] Chr19:48342824..48342825 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.790G>A (p.Val264Met) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001963840] |
Chr19:47839857 [GRCh38] Chr19:48343114 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.443del (p.Gly148fs) |
deletion |
Leber congenital amaurosis [RCV001262103] |
Chr19:47839509 [GRCh38] Chr19:48342766 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.127C>A (p.Arg43Ser) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001352222] |
Chr19:47836269 [GRCh38] Chr19:48339526 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.626G>A (p.Gly209Glu) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001324861] |
Chr19:47839693 [GRCh38] Chr19:48342950 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.263A>G (p.Lys88Arg) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV003447588]|Leber congenital amaurosis 7 [RCV001320521]|Retinitis pigmentosa [RCV001587340]|not provided [RCV001532383] |
Chr19:47839330 [GRCh38] Chr19:48342587 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic|uncertain significance |
NM_000554.6(CRX):c.485T>C (p.Ile162Thr) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001318075] |
Chr19:47839552 [GRCh38] Chr19:48342809 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.593C>T (p.Ala198Val) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001343143] |
Chr19:47839660 [GRCh38] Chr19:48342917 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.590del (p.Pro197fs) |
deletion |
Leber congenital amaurosis 7 [RCV001925009]|Stargardt disease [RCV002466710] |
Chr19:47839654 [GRCh38] Chr19:48342911 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic|uncertain significance |
NM_000554.6(CRX):c.740C>T (p.Ala247Val) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001309174] |
Chr19:47839807 [GRCh38] Chr19:48343064 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.426C>A (p.Tyr142Ter) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001341159] |
Chr19:47839493 [GRCh38] Chr19:48342750 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.42C>T (p.Asn14=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001396700] |
Chr19:47834485 [GRCh38] Chr19:48337742 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.83A>G (p.Gln28Arg) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001370444] |
Chr19:47834526 [GRCh38] Chr19:48337783 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.688G>C (p.Gly230Arg) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001362598] |
Chr19:47839755 [GRCh38] Chr19:48343012 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.798del (p.Leu267fs) |
deletion |
Leber congenital amaurosis 7 [RCV001362092] |
Chr19:47839865 [GRCh38] Chr19:48343122 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.203C>T (p.Ala68Val) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001361102] |
Chr19:47836345 [GRCh38] Chr19:48339602 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.660dup (p.Tyr221fs) |
duplication |
Leber congenital amaurosis 7 [RCV001312312] |
Chr19:47839723..47839724 [GRCh38] Chr19:48342980..48342981 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.513G>C (p.Leu171Phe) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001373693] |
Chr19:47839580 [GRCh38] Chr19:48342837 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_48342557)_(48343224_?)del |
deletion |
Leber congenital amaurosis 7 [RCV001364796] |
Chr19:48342557..48343224 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.21G>A (p.Pro7=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001339805] |
Chr19:47834464 [GRCh38] Chr19:48337721 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_000554.6(CRX):c.262A>G (p.Lys88Glu) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001342164] |
Chr19:47839329 [GRCh38] Chr19:48342586 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.778G>A (p.Ala260Thr) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001365043] |
Chr19:47839845 [GRCh38] Chr19:48343102 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.76_80del (p.Met26fs) |
deletion |
Leber congenital amaurosis 7 [RCV001365217] |
Chr19:47834519..47834523 [GRCh38] Chr19:48337776..48337780 [GRCh37] Chr19:19q13.33 |
pathogenic|uncertain significance |
NM_000554.6(CRX):c.713C>A (p.Ser238Tyr) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001341176] |
Chr19:47839780 [GRCh38] Chr19:48343037 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.11A>G (p.Tyr4Cys) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001323352] |
Chr19:47834454 [GRCh38] Chr19:48337711 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.22G>C (p.Gly8Arg) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001345352] |
Chr19:47834465 [GRCh38] Chr19:48337722 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NM_000554.6(CRX):c.592del (p.Ala198fs) |
deletion |
Leber congenital amaurosis 7 [RCV001347754] |
Chr19:47839658 [GRCh38] Chr19:48342915 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_48337701)_(48339651_?)del |
deletion |
Leber congenital amaurosis 7 [RCV001308059] |
Chr19:48337701..48339651 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.841A>G (p.Asn281Asp) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001359665] |
Chr19:47839908 [GRCh38] Chr19:48343165 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.323del (p.Pro108fs) |
deletion |
Leber congenital amaurosis 7 [RCV001338120] |
Chr19:47839386 [GRCh38] Chr19:48342643 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_48337701)_(48343224_?)del |
deletion |
Leber congenital amaurosis 7 [RCV001350984] |
Chr19:48337701..48343224 [GRCh37] Chr19:19q13.33 |
pathogenic|uncertain significance |
NM_000554.6(CRX):c.439C>T (p.Pro147Ser) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001359494] |
Chr19:47839506 [GRCh38] Chr19:48342763 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.871C>T (p.Gln291Ter) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001367300] |
Chr19:47839938 [GRCh38] Chr19:48343195 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.806_809dup (p.Lys270fs) |
duplication |
Leber congenital amaurosis 7 [RCV001368920] |
Chr19:47839872..47839873 [GRCh38] Chr19:48343129..48343130 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.728dup (p.Pro244fs) |
duplication |
Leber congenital amaurosis 7 [RCV001300693] |
Chr19:47839792..47839793 [GRCh38] Chr19:48343049..48343050 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.852C>T (p.Asp284=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001396478] |
Chr19:47839919 [GRCh38] Chr19:48343176 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.309G>A (p.Gln103=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001450207] |
Chr19:47839376 [GRCh38] Chr19:48342633 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.794A>T (p.Asp265Val) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001365909] |
Chr19:47839861 [GRCh38] Chr19:48343118 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.159G>A (p.Glu53=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001474135] |
Chr19:47836301 [GRCh38] Chr19:48339558 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.846C>A (p.Pro282=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001485431] |
Chr19:47839913 [GRCh38] Chr19:48343170 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.522G>A (p.Ala174=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001406095] |
Chr19:47839589 [GRCh38] Chr19:48342846 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.720C>G (p.Pro240=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001487615] |
Chr19:47839787 [GRCh38] Chr19:48343044 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.585C>T (p.Tyr195=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001426974] |
Chr19:47839652 [GRCh38] Chr19:48342909 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.100+13G>A |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001474780] |
Chr19:47834556 [GRCh38] Chr19:48337813 [GRCh37] Chr19:19q13.33 |
likely benign |
NC_000019.9:g.(?_48339500)_(48343224_?)del |
deletion |
Leber congenital amaurosis 7 [RCV001384228] |
Chr19:48339500..48343224 [GRCh37] Chr19:19q13.33 |
pathogenic |
NC_000019.9:g.(?_48342985)_48346262del |
deletion |
Leber congenital amaurosis 7 [RCV001384229] |
|
pathogenic |
NM_000554.6(CRX):c.876T>C (p.Ser292=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001409390] |
Chr19:47839943 [GRCh38] Chr19:48343200 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.856C>T (p.Leu286=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001449103] |
Chr19:47839923 [GRCh38] Chr19:48343180 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.252+203T>A |
single nucleotide variant |
not provided [RCV001695084] |
Chr19:47836597 [GRCh38] Chr19:48339854 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.363G>A (p.Ala121=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001476270] |
Chr19:47839430 [GRCh38] Chr19:48342687 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.339G>A (p.Lys113=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001487371] |
Chr19:47839406 [GRCh38] Chr19:48342663 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.537G>A (p.Leu179=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001454169] |
Chr19:47839604 [GRCh38] Chr19:48342861 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.552G>A (p.Pro184=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001468846] |
Chr19:47839619 [GRCh38] Chr19:48342876 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.564C>T (p.Ser188=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001500571] |
Chr19:47839631 [GRCh38] Chr19:48342888 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.564del (p.Ala189fs) |
deletion |
Leber congenital amaurosis 7 [RCV001526718] |
Chr19:47839630 [GRCh38] Chr19:48342887 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.734C>A (p.Ser245Tyr) |
single nucleotide variant |
not provided [RCV001767045] |
Chr19:47839801 [GRCh38] Chr19:48343058 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.893T>A (p.Ile298Asn) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001947363] |
Chr19:47839960 [GRCh38] Chr19:48343217 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.442G>C (p.Gly148Arg) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001988291] |
Chr19:47839509 [GRCh38] Chr19:48342766 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.632C>T (p.Pro211Leu) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002025055] |
Chr19:47839699 [GRCh38] Chr19:48342956 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.774T>A (p.Tyr258Ter) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001985814] |
Chr19:47839841 [GRCh38] Chr19:48343098 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.43G>A (p.Ala15Thr) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001910272] |
Chr19:47834486 [GRCh38] Chr19:48337743 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.324del (p.Gly110fs) |
deletion |
Leber congenital amaurosis 7 [RCV001864367] |
Chr19:47839391 [GRCh38] Chr19:48342648 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.526C>G (p.Arg176Gly) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002025171] |
Chr19:47839593 [GRCh38] Chr19:48342850 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.526C>T (p.Arg176Trp) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002024592] |
Chr19:47839593 [GRCh38] Chr19:48342850 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.649G>A (p.Gly217Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003264156]|Leber congenital amaurosis 7 [RCV001894872] |
Chr19:47839716 [GRCh38] Chr19:48342973 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.377G>A (p.Arg126Lys) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001928100] |
Chr19:47839444 [GRCh38] Chr19:48342701 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.311A>G (p.Gln104Arg) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002005846] |
Chr19:47839378 [GRCh38] Chr19:48342635 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_48337701)_(48725132_?)dup |
duplication |
Leber congenital amaurosis 7 [RCV002004465] |
Chr19:48337701..48725132 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.673A>C (p.Met225Leu) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001983091] |
Chr19:47839740 [GRCh38] Chr19:48342997 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.365del (p.Gly122fs) |
deletion |
Leber congenital amaurosis 7 [RCV001927127] |
Chr19:47839430 [GRCh38] Chr19:48342687 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.501del (p.Glu168fs) |
deletion |
Leber congenital amaurosis 7 [RCV001966147] |
Chr19:47839568 [GRCh38] Chr19:48342825 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh37/hg19 19q13.33(chr19:48334930-48402210) |
copy number loss |
not specified [RCV002052688] |
Chr19:48334930..48402210 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.176_177del (p.Ala59fs) |
deletion |
Leber congenital amaurosis 7 [RCV001926782] |
Chr19:47836318..47836319 [GRCh38] Chr19:48339575..48339576 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.793G>T (p.Asp265Tyr) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001911795] |
Chr19:47839860 [GRCh38] Chr19:48343117 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.274G>C (p.Ala92Pro) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001911194] |
Chr19:47839341 [GRCh38] Chr19:48342598 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.42C>A (p.Asn14Lys) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002038047] |
Chr19:47834485 [GRCh38] Chr19:48337742 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.377del (p.Arg126fs) |
deletion |
Leber congenital amaurosis 7 [RCV001900354] |
Chr19:47839444 [GRCh38] Chr19:48342701 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.25C>T (p.Pro9Ser) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002000899] |
Chr19:47834468 [GRCh38] Chr19:48337725 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.196G>T (p.Val66Phe) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002001280] |
Chr19:47836338 [GRCh38] Chr19:48339595 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.750del (p.Thr251fs) |
deletion |
Leber congenital amaurosis 7 [RCV001940419] |
Chr19:47839813 [GRCh38] Chr19:48343070 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.619G>A (p.Ala207Thr) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002000731] |
Chr19:47839686 [GRCh38] Chr19:48342943 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.128G>T (p.Arg43Leu) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002029275] |
Chr19:47836270 [GRCh38] Chr19:48339527 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.565G>A (p.Ala189Thr) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001920351] |
Chr19:47839632 [GRCh38] Chr19:48342889 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.587C>T (p.Ala196Val) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002050607] |
Chr19:47839654 [GRCh38] Chr19:48342911 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.226A>T (p.Ile76Phe) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001993930] |
Chr19:47836368 [GRCh38] Chr19:48339625 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.790G>T (p.Val264Leu) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001975511] |
Chr19:47839857 [GRCh38] Chr19:48343114 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.142C>T (p.Arg48Trp) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001932777] |
Chr19:47836284 [GRCh38] Chr19:48339541 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.125_128dup (p.Thr44fs) |
duplication |
Leber congenital amaurosis 7 [RCV001881843] |
Chr19:47836265..47836266 [GRCh38] Chr19:48339522..48339523 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.521C>T (p.Ala174Val) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001903458] |
Chr19:47839588 [GRCh38] Chr19:48342845 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.624T>G (p.Tyr208Ter) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001991880] |
Chr19:47839691 [GRCh38] Chr19:48342948 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.806T>A (p.Phe269Tyr) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001918822] |
Chr19:47839873 [GRCh38] Chr19:48343130 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.349G>A (p.Ala117Thr) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001870266] |
Chr19:47839416 [GRCh38] Chr19:48342673 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.60C>G (p.Gly20=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002019302] |
Chr19:47834503 [GRCh38] Chr19:48337760 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.415T>G (p.Ser139Ala) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001885662] |
Chr19:47839482 [GRCh38] Chr19:48342739 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.726G>A (p.Val242=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002029430] |
Chr19:47839793 [GRCh38] Chr19:48343050 [GRCh37] Chr19:19q13.33 |
likely benign|uncertain significance |
NC_000019.9:g.(?_48337701)_(48339671_?)dup |
duplication |
Leber congenital amaurosis 7 [RCV001981841] |
Chr19:48337701..48339671 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.225G>T (p.Lys75Asn) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001867610] |
Chr19:47836367 [GRCh38] Chr19:48339624 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.20C>T (p.Pro7Leu) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001990192] |
Chr19:47834463 [GRCh38] Chr19:48337720 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.494del (p.Pro165fs) |
deletion |
Leber congenital amaurosis 7 [RCV001974438] |
Chr19:47839559 [GRCh38] Chr19:48342816 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.509del (p.Pro170fs) |
deletion |
Leber congenital amaurosis 7 [RCV001864785] |
Chr19:47839573 [GRCh38] Chr19:48342830 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.783C>G (p.Tyr261Ter) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002013505] |
Chr19:47839850 [GRCh38] Chr19:48343107 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.578T>A (p.Met193Lys) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002047490] |
Chr19:47839645 [GRCh38] Chr19:48342902 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.533G>C (p.Gly178Ala) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001930438] |
Chr19:47839600 [GRCh38] Chr19:48342857 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.140C>T (p.Thr47Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003264299]|Leber congenital amaurosis 7 [RCV001972092] |
Chr19:47836282 [GRCh38] Chr19:48339539 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.404C>G (p.Pro135Arg) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002027940] |
Chr19:47839471 [GRCh38] Chr19:48342728 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.182C>T (p.Thr61Ile) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002033569] |
Chr19:47836324 [GRCh38] Chr19:48339581 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.560C>T (p.Thr187Ile) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV001905659] |
Chr19:47839627 [GRCh38] Chr19:48342884 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.381del (p.Ser128fs) |
deletion |
Leber congenital amaurosis 7 [RCV001924970] |
Chr19:47839446 [GRCh38] Chr19:48342703 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.463dup (p.Thr155fs) |
duplication |
Leber congenital amaurosis 7 [RCV001924859] |
Chr19:47839529..47839530 [GRCh38] Chr19:48342786..48342787 [GRCh37] Chr19:19q13.33 |
likely pathogenic|uncertain significance |
NM_000554.6(CRX):c.108del (p.Arg37fs) |
deletion |
Leber congenital amaurosis 7 [RCV001972914] |
Chr19:47836246 [GRCh38] Chr19:48339503 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.597del (p.Ala200fs) |
deletion |
Leber congenital amaurosis 7 [RCV002013147] |
Chr19:47839663 [GRCh38] Chr19:48342920 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.412A>G (p.Ile138Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002545377]|Leber congenital amaurosis 7 [RCV002051059] |
Chr19:47839479 [GRCh38] Chr19:48342736 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NC_000019.9:g.(?_48342557)_(48343224_?)dup |
duplication |
Leber congenital amaurosis 7 [RCV001916120] |
Chr19:48342557..48343224 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.645C>T (p.Phe215=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002109861] |
Chr19:47839712 [GRCh38] Chr19:48342969 [GRCh37] Chr19:19q13.33 |
benign |
NM_000554.6(CRX):c.81C>T (p.His27=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002092439] |
Chr19:47834524 [GRCh38] Chr19:48337781 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.253-16C>T |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002106712] |
Chr19:47839304 [GRCh38] Chr19:48342561 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.9G>A (p.Ala3=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002090805] |
Chr19:47834452 [GRCh38] Chr19:48337709 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.253-11T>C |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002167303] |
Chr19:47839309 [GRCh38] Chr19:48342566 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.216G>A (p.Val72=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002170404] |
Chr19:47836358 [GRCh38] Chr19:48339615 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.774T>C (p.Tyr258=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002206562] |
Chr19:47839841 [GRCh38] Chr19:48343098 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.789C>T (p.Pro263=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002149482] |
Chr19:47839856 [GRCh38] Chr19:48343113 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.696G>A (p.Pro232=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002080455] |
Chr19:47839763 [GRCh38] Chr19:48343020 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.195C>T (p.Asp65=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002116312] |
Chr19:47836337 [GRCh38] Chr19:48339594 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.747C>G (p.Ser249=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002116610] |
Chr19:47839814 [GRCh38] Chr19:48343071 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.252+18_252+24del |
deletion |
Leber congenital amaurosis 7 [RCV002202633] |
Chr19:47836409..47836415 [GRCh38] Chr19:48339666..48339672 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.369G>A (p.Thr123=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002216457] |
Chr19:47839436 [GRCh38] Chr19:48342693 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.345G>A (p.Arg115=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002201520] |
Chr19:47839412 [GRCh38] Chr19:48342669 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.101-6C>T |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002163876] |
Chr19:47836237 [GRCh38] Chr19:48339494 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.690G>T (p.Gly230=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002155654] |
Chr19:47839757 [GRCh38] Chr19:48343014 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.648C>T (p.Ser216=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002176969] |
Chr19:47839715 [GRCh38] Chr19:48342972 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.441C>T (p.Pro147=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002136139] |
Chr19:47839508 [GRCh38] Chr19:48342765 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.462C>T (p.Thr154=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002180437] |
Chr19:47839529 [GRCh38] Chr19:48342786 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.594C>T (p.Ala198=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002101602] |
Chr19:47839661 [GRCh38] Chr19:48342918 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.372C>A (p.Ser124=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002176745] |
Chr19:47839439 [GRCh38] Chr19:48342696 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.133A>G (p.Thr45Ala) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003112649] |
Chr19:47836275 [GRCh38] Chr19:48339532 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.545C>G (p.Ser182Ter) |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV002249841]|Leber congenital amaurosis 7 [RCV003094022] |
Chr19:47839612 [GRCh38] Chr19:48342869 [GRCh37] Chr19:19q13.33 |
pathogenic|likely pathogenic |
NM_000554.6(CRX):c.586_587del (p.Ala196fs) |
deletion |
Cone-rod dystrophy 2 [RCV002249842] |
Chr19:47839652..47839653 [GRCh38] Chr19:48342909..48342910 [GRCh37] Chr19:19q13.33 |
pathogenic |
NM_000554.6(CRX):c.106C>T (p.Pro36Ser) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002305159] |
Chr19:47836248 [GRCh38] Chr19:48339505 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.109A>C (p.Arg37=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002685605] |
Chr19:47836251 [GRCh38] Chr19:48339508 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.678G>A (p.Val226=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002971207] |
Chr19:47839745 [GRCh38] Chr19:48343002 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.575C>A (p.Ala192Asp) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002775322] |
Chr19:47839642 [GRCh38] Chr19:48342899 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.281G>A (p.Cys94Tyr) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002843056] |
Chr19:47839348 [GRCh38] Chr19:48342605 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.543C>A (p.Ala181=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002842266] |
Chr19:47839610 [GRCh38] Chr19:48342867 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.116_127del (p.Gln39_Glu42del) |
deletion |
Leber congenital amaurosis 7 [RCV002839076] |
Chr19:47836255..47836266 [GRCh38] Chr19:48339512..48339523 [GRCh37] Chr19:19q13.33 |
pathogenic|uncertain significance |
NM_000554.6(CRX):c.685C>A (p.Leu229Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002686943] |
Chr19:47839752 [GRCh38] Chr19:48343009 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.555T>A (p.Ser185=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002881666] |
Chr19:47839622 [GRCh38] Chr19:48342879 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.755C>T (p.Ser252Phe) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002947504] |
Chr19:47839822 [GRCh38] Chr19:48343079 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.198C>T (p.Val66=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003013351] |
Chr19:47836340 [GRCh38] Chr19:48339597 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.799T>G (p.Leu267Val) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002638805] |
Chr19:47839866 [GRCh38] Chr19:48343123 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.675G>C (p.Met225Ile) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003020810] |
Chr19:47839742 [GRCh38] Chr19:48342999 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.773A>G (p.Tyr258Cys) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003039621] |
Chr19:47839840 [GRCh38] Chr19:48343097 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.777C>T (p.Gly259=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003081281] |
Chr19:47839844 [GRCh38] Chr19:48343101 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.844C>T (p.Pro282Ser) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003039124] |
Chr19:47839911 [GRCh38] Chr19:48343168 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.714del (p.Gly239fs) |
deletion |
Leber congenital amaurosis 7 [RCV002885281] |
Chr19:47839781 [GRCh38] Chr19:48343038 [GRCh37] Chr19:19q13.33 |
pathogenic|uncertain significance |
NM_000554.6(CRX):c.240G>A (p.Glu80=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002622811] |
Chr19:47836382 [GRCh38] Chr19:48339639 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.213G>A (p.Glu71=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002637976] |
Chr19:47836355 [GRCh38] Chr19:48339612 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.211G>A (p.Glu71Lys) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002637767] |
Chr19:47836353 [GRCh38] Chr19:48339610 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.60C>T (p.Gly20=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002979394] |
Chr19:47834503 [GRCh38] Chr19:48337760 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.101-10C>T |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003019901] |
Chr19:47836233 [GRCh38] Chr19:48339490 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.863A>G (p.Tyr288Cys) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003053193] |
Chr19:47839930 [GRCh38] Chr19:48343187 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.119G>C (p.Arg40Pro) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002885697] |
Chr19:47836261 [GRCh38] Chr19:48339518 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.532G>C (p.Gly178Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002706822] |
Chr19:47839599 [GRCh38] Chr19:48342856 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.89T>A (p.Val30Glu) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003054109] |
Chr19:47834532 [GRCh38] Chr19:48337789 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.488G>A (p.Trp163Ter) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003038465] |
Chr19:47839555 [GRCh38] Chr19:48342812 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.85G>A (p.Ala29Thr) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003079373] |
Chr19:47834528 [GRCh38] Chr19:48337785 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.786C>T (p.Ser262=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003038422] |
Chr19:47839853 [GRCh38] Chr19:48343110 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.100+2T>G |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003008305] |
Chr19:47834545 [GRCh38] Chr19:48337802 [GRCh37] Chr19:19q13.33 |
pathogenic|uncertain significance |
NM_000554.6(CRX):c.719C>T (p.Pro240Leu) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003008308] |
Chr19:47839786 [GRCh38] Chr19:48343043 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.390T>C (p.Asp130=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003005469] |
Chr19:47839457 [GRCh38] Chr19:48342714 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.205C>G (p.Arg69Gly) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003056494] |
Chr19:47836347 [GRCh38] Chr19:48339604 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.633G>A (p.Pro211=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002805511] |
Chr19:47839700 [GRCh38] Chr19:48342957 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.342C>T (p.Ala114=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003056699] |
Chr19:47839409 [GRCh38] Chr19:48342666 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.834C>A (p.Phe278Leu) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002828814] |
Chr19:47839901 [GRCh38] Chr19:48343158 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.253-1G>T |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002875945] |
Chr19:47839319 [GRCh38] Chr19:48342576 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.811G>A (p.Asp271Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002813166] |
Chr19:47839878 [GRCh38] Chr19:48343135 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.360G>A (p.Lys120=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003049280] |
Chr19:47839427 [GRCh38] Chr19:48342684 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.541_542del (p.Ala181fs) |
deletion |
Leber congenital amaurosis 7 [RCV002812113] |
Chr19:47839608..47839609 [GRCh38] Chr19:48342865..48342866 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.709C>A (p.Leu237Ile) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002651159] |
Chr19:47839776 [GRCh38] Chr19:48343033 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.484A>C (p.Ile162Leu) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003061497] |
Chr19:47839551 [GRCh38] Chr19:48342808 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.557del (p.Leu186fs) |
deletion |
Leber congenital amaurosis 7 [RCV002962432] |
Chr19:47839624 [GRCh38] Chr19:48342881 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.663C>G (p.Tyr221Ter) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003061635] |
Chr19:47839730 [GRCh38] Chr19:48342987 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.658C>A (p.Pro220Thr) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003088026] |
Chr19:47839725 [GRCh38] Chr19:48342982 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.740C>A (p.Ala247Asp) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002895563] |
Chr19:47839807 [GRCh38] Chr19:48343064 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.534G>C (p.Gly178=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003089287] |
Chr19:47839601 [GRCh38] Chr19:48342858 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.497C>A (p.Ala166Asp) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV002631302] |
Chr19:47839564 [GRCh38] Chr19:48342821 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.591_594dup (p.Ser199fs) |
duplication |
Leber congenital amaurosis 7 [RCV002835327] |
Chr19:47839655..47839656 [GRCh38] Chr19:48342912..48342913 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.362C>T (p.Ala121Val) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003050545] |
Chr19:47839429 [GRCh38] Chr19:48342686 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.695C>T (p.Pro232Leu) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003093598] |
Chr19:47839762 [GRCh38] Chr19:48343019 [GRCh37] Chr19:19q13.33 |
uncertain significance |
GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1 |
copy number loss |
Cone-rod dystrophy 2 [RCV003327689] |
Chr19:47257435..47886413 [GRCh38] Chr19:19q13.32-13.33 |
uncertain significance |
GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1 |
copy number loss |
Cone-rod dystrophy 2 [RCV003327687] |
Chr19:47794370..47886413 [GRCh38] Chr19:19q13.33 |
uncertain significance |
GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1 |
copy number loss |
Cone-rod dystrophy 2 [RCV003327688] |
Chr19:47834312..47840923 [GRCh38] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.879C>G (p.Ala293=) |
single nucleotide variant |
not provided [RCV003425299] |
Chr19:47839946 [GRCh38] Chr19:48343203 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.761_804dup (p.Phe269fs) |
duplication |
CRX-related condition [RCV003420914] |
Chr19:47839827..47839828 [GRCh38] Chr19:48343084..48343085 [GRCh37] Chr19:19q13.33 |
likely pathogenic |
NM_000554.6(CRX):c.894C>A (p.Ile298=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003787269] |
Chr19:47839961 [GRCh38] Chr19:48343218 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.319C>G (p.Pro107Ala) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003789052] |
Chr19:47839386 [GRCh38] Chr19:48342643 [GRCh37] Chr19:19q13.33 |
uncertain significance |
NM_000554.6(CRX):c.165G>A (p.Glu55=) |
single nucleotide variant |
Leber congenital amaurosis 7 [RCV003790639] |
Chr19:47836307 [GRCh38] Chr19:48339564 [GRCh37] Chr19:19q13.33 |
likely benign |
NM_000554.6(CRX):c.159del (p.Glu53fs) |
deletion |
Leber congenital amaurosis 7 [RCV003781419] |
Chr19:47836301 [GRCh38] Chr19:48339558 [GRCh37] Chr19:19q13.33 |
pathogenic |