NM_016026.3(RDH11):c.751T>G (p.Trp251Gly) |
single nucleotide variant |
Malignant melanoma [RCV000070582] |
Chr14:67685118 [GRCh38] Chr14:68151835 [GRCh37] Chr14:67221588 [NCBI36] Chr14:14q24.1 |
not provided |
NM_016026.4(RDH11):c.721C>T (p.Arg241Trp) |
single nucleotide variant |
not provided [RCV001367896]|not specified [RCV004671374] |
Chr14:67685148 [GRCh38] Chr14:68151865 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.199C>T (p.Arg67Ter) |
single nucleotide variant |
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome [RCV000148296]|not provided [RCV001320971] |
Chr14:67692588 [GRCh38] Chr14:68159305 [GRCh37] Chr14:14q24.1 |
pathogenic|uncertain significance|not provided |
NM_016026.4(RDH11):c.322C>T (p.Arg108Ter) |
single nucleotide variant |
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome [RCV000148297]|not provided [RCV001302099] |
Chr14:67692465 [GRCh38] Chr14:68159182 [GRCh37] Chr14:14q24.1 |
pathogenic|uncertain significance |
NM_016026.4(RDH11):c.645A>T (p.Glu215Asp) |
single nucleotide variant |
not provided [RCV001349181]|not specified [RCV004036575] |
Chr14:67690231 [GRCh38] Chr14:68156948 [GRCh37] Chr14:14q24.1 |
uncertain significance |
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 |
copy number gain |
See cases [RCV000135543] |
Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 |
copy number gain |
See cases [RCV000143373] |
Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 |
copy number gain |
See cases [RCV000446256] |
Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 |
copy number gain |
See cases [RCV000448557] |
Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) |
copy number gain |
See cases [RCV000512041] |
Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1 |
copy number loss |
See cases [RCV000512344] |
Chr14:68035240..73568130 [GRCh37] Chr14:14q24.1-24.2 |
likely pathogenic |
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 |
copy number gain |
not provided [RCV000738412] |
Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 |
copy number gain |
not provided [RCV000738413] |
Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 |
copy number gain |
not provided [RCV000738414] |
Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_016026.4(RDH11):c.456T>G (p.Gly152=) |
single nucleotide variant |
not provided [RCV000973042] |
Chr14:67690420 [GRCh38] Chr14:68157137 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.921C>T (p.Asp307=) |
single nucleotide variant |
RDH11-related disorder [RCV003930831]|not provided [RCV000892708] |
Chr14:67678357 [GRCh38] Chr14:68145074 [GRCh37] Chr14:14q24.1 |
benign|likely benign |
NM_016026.4(RDH11):c.678G>A (p.Thr226=) |
single nucleotide variant |
not provided [RCV000924444] |
Chr14:67685191 [GRCh38] Chr14:68151908 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.407C>T (p.Ser136Leu) |
single nucleotide variant |
not provided [RCV000881394] |
Chr14:67691187 [GRCh38] Chr14:68157904 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.350-4G>T |
single nucleotide variant |
not provided [RCV000940846] |
Chr14:67691248 [GRCh38] Chr14:68157965 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.350-10G>A |
single nucleotide variant |
not provided [RCV000974579]|not specified [RCV001700961] |
Chr14:67691254 [GRCh38] Chr14:68157971 [GRCh37] Chr14:14q24.1 |
benign|likely benign |
GRCh37/hg19 14q24.1(chr14:68130744-68275342)x3 |
copy number gain |
not provided [RCV000848866] |
Chr14:68130744..68275342 [GRCh37] Chr14:14q24.1 |
uncertain significance |
GRCh37/hg19 14q24.1(chr14:68148448-69073242)x3 |
copy number gain |
not provided [RCV000848251] |
Chr14:68148448..69073242 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.790G>T (p.Ala264Ser) |
single nucleotide variant |
not provided [RCV001058272] |
Chr14:67685079 [GRCh38] Chr14:68151796 [GRCh37] Chr14:14q24.1 |
uncertain significance |
GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3 |
copy number gain |
Blepharophimosis [RCV000787291] |
Chr14:68126321..68269053 [GRCh37] Chr14:14q24.1 |
uncertain significance |
GRCh37/hg19 14q24.1(chr14:68149933-68176159)x1 |
copy number loss |
not provided [RCV000846430] |
Chr14:68149933..68176159 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.856G>A (p.Asp286Asn) |
single nucleotide variant |
not provided [RCV001248728] |
Chr14:67678422 [GRCh38] Chr14:68145139 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.14T>C (p.Met5Thr) |
single nucleotide variant |
not provided [RCV001242061] |
Chr14:67695690 [GRCh38] Chr14:68162407 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.523G>A (p.Val175Met) |
single nucleotide variant |
not provided [RCV001239503] |
Chr14:67690353 [GRCh38] Chr14:68157070 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.336G>C (p.Lys112Asn) |
single nucleotide variant |
not provided [RCV001226898] |
Chr14:67692451 [GRCh38] Chr14:68159168 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.380A>G (p.Asn127Ser) |
single nucleotide variant |
not provided [RCV001207484] |
Chr14:67691214 [GRCh38] Chr14:68157931 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.264G>A (p.Thr88=) |
single nucleotide variant |
not provided [RCV000883140]|not specified [RCV001701467] |
Chr14:67692523 [GRCh38] Chr14:68159240 [GRCh37] Chr14:14q24.1 |
benign|likely benign |
NM_016026.4(RDH11):c.628A>G (p.Ile210Val) |
single nucleotide variant |
RDH11-related disorder [RCV003902966]|not provided [RCV000917260] |
Chr14:67690248 [GRCh38] Chr14:68156965 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.747G>A (p.Met249Ile) |
single nucleotide variant |
not provided [RCV001235745]|not specified [RCV004033289] |
Chr14:67685122 [GRCh38] Chr14:68151839 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.340T>C (p.Phe114Leu) |
single nucleotide variant |
not provided [RCV001226242] |
Chr14:67692447 [GRCh38] Chr14:68159164 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.863_864del (p.His288fs) |
deletion |
not provided [RCV001244163] |
Chr14:67678414..67678415 [GRCh38] Chr14:68145131..68145132 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.284T>A (p.Leu95Ter) |
single nucleotide variant |
Retinal dystrophy [RCV004814233] |
Chr14:67692503 [GRCh38] Chr14:68159220 [GRCh37] Chr14:14q24.1 |
pathogenic |
GRCh37/hg19 14q24.1(chr14:68037409-68278365)x3 |
copy number gain |
not provided [RCV001006647] |
Chr14:68037409..68278365 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.572A>G (p.Gln191Arg) |
single nucleotide variant |
not provided [RCV001217394]|not specified [RCV004034031] |
Chr14:67690304 [GRCh38] Chr14:68157021 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.41C>G (p.Pro14Arg) |
single nucleotide variant |
not provided [RCV001212316] |
Chr14:67695663 [GRCh38] Chr14:68162380 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.175A>G (p.Lys59Glu) |
single nucleotide variant |
not provided [RCV001041592] |
Chr14:67692952 [GRCh38] Chr14:68159669 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.709T>C (p.Ser237Pro) |
single nucleotide variant |
not provided [RCV001233119] |
Chr14:67685160 [GRCh38] Chr14:68151877 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.922G>A (p.Val308Ile) |
single nucleotide variant |
not provided [RCV001035835] |
Chr14:67678356 [GRCh38] Chr14:68145073 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.215G>C (p.Cys72Ser) |
single nucleotide variant |
not provided [RCV001207913] |
Chr14:67692572 [GRCh38] Chr14:68159289 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.484G>T (p.Glu162Ter) |
single nucleotide variant |
not provided [RCV001045187] |
Chr14:67690392 [GRCh38] Chr14:68157109 [GRCh37] Chr14:14q24.1 |
pathogenic|uncertain significance |
NM_016026.4(RDH11):c.576C>T (p.Gly192=) |
single nucleotide variant |
not provided [RCV001231925] |
Chr14:67690300 [GRCh38] Chr14:68157017 [GRCh37] Chr14:14q24.1 |
likely benign|uncertain significance |
GRCh37/hg19 14q23.3-24.1(chr14:67331167-68451970)x3 |
copy number gain |
not provided [RCV001006646] |
Chr14:67331167..68451970 [GRCh37] Chr14:14q23.3-24.1 |
uncertain significance |
NM_016026.4(RDH11):c.32T>C (p.Leu11Pro) |
single nucleotide variant |
not provided [RCV001230422] |
Chr14:67695672 [GRCh38] Chr14:68162389 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.401C>T (p.Pro134Leu) |
single nucleotide variant |
not provided [RCV001248393] |
Chr14:67691193 [GRCh38] Chr14:68157910 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.847C>A (p.His283Asn) |
single nucleotide variant |
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome [RCV001330701] |
Chr14:67685022 [GRCh38] Chr14:68151739 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.121G>A (p.Gly41Arg) |
single nucleotide variant |
not provided [RCV001342050]|not specified [RCV004035981] |
Chr14:67693006 [GRCh38] Chr14:68159723 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.517G>A (p.Val173Ile) |
single nucleotide variant |
not provided [RCV001351412] |
Chr14:67690359 [GRCh38] Chr14:68157076 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.673G>A (p.Val225Ile) |
single nucleotide variant |
not provided [RCV001312671] |
Chr14:67685196 [GRCh38] Chr14:68151913 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.729dup (p.Ser244fs) |
duplication |
not provided [RCV001309944] |
Chr14:67685139..67685140 [GRCh38] Chr14:68151856..68151857 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.386G>A (p.Gly129Glu) |
single nucleotide variant |
not provided [RCV001319202] |
Chr14:67691208 [GRCh38] Chr14:68157925 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.454+2T>A |
single nucleotide variant |
not provided [RCV001825284] |
Chr14:67691138 [GRCh38] Chr14:68157855 [GRCh37] Chr14:14q24.1 |
pathogenic|not provided |
NC_000014.8:g.(?_65937790)_(68354021_?)dup |
duplication |
Leber congenital amaurosis 13 [RCV001341311]|not provided [RCV001314756] |
Chr14:65937790..68354021 [GRCh37] Chr14:14q23.3-24.1 |
uncertain significance|no classifications from unflagged records |
NM_016026.4(RDH11):c.350-18A>G |
single nucleotide variant |
not provided [RCV001392544] |
Chr14:67691262 [GRCh38] Chr14:68157979 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.402G>A (p.Pro134=) |
single nucleotide variant |
not provided [RCV001392547] |
Chr14:67691192 [GRCh38] Chr14:68157909 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.46C>G (p.Leu16Val) |
single nucleotide variant |
not provided [RCV001360476]|not specified [RCV004036765] |
Chr14:67695658 [GRCh38] Chr14:68162375 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.368T>C (p.Val123Ala) |
single nucleotide variant |
not provided [RCV001297425] |
Chr14:67691226 [GRCh38] Chr14:68157943 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.455-7T>G |
single nucleotide variant |
not provided [RCV001347138] |
Chr14:67690428 [GRCh38] Chr14:68157145 [GRCh37] Chr14:14q24.1 |
likely benign|uncertain significance |
NM_016026.4(RDH11):c.372G>C (p.Leu124Phe) |
single nucleotide variant |
not provided [RCV001345296] |
Chr14:67691222 [GRCh38] Chr14:68157939 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.361C>T (p.Leu121Phe) |
single nucleotide variant |
not provided [RCV001352507] |
Chr14:67691233 [GRCh38] Chr14:68157950 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.949A>G (p.Ile317Val) |
single nucleotide variant |
not provided [RCV001347883] |
Chr14:67678329 [GRCh38] Chr14:68145046 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.373A>G (p.Ile125Val) |
single nucleotide variant |
not provided [RCV001363915] |
Chr14:67691221 [GRCh38] Chr14:68157938 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.839G>A (p.Ser280Asn) |
single nucleotide variant |
not provided [RCV001305312] |
Chr14:67685030 [GRCh38] Chr14:68151747 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.905C>T (p.Ala302Val) |
single nucleotide variant |
not provided [RCV001308511] |
Chr14:67678373 [GRCh38] Chr14:68145090 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.395T>C (p.Met132Thr) |
single nucleotide variant |
not provided [RCV001326818] |
Chr14:67691199 [GRCh38] Chr14:68157916 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.598C>G (p.Leu200Val) |
single nucleotide variant |
not provided [RCV001366013]|not specified [RCV004036961] |
Chr14:67690278 [GRCh38] Chr14:68156995 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.171A>G (p.Thr57=) |
single nucleotide variant |
not provided [RCV001458534] |
Chr14:67692956 [GRCh38] Chr14:68159673 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.894T>C (p.Asn298=) |
single nucleotide variant |
not provided [RCV001488754] |
Chr14:67678384 [GRCh38] Chr14:68145101 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.534C>T (p.Leu178=) |
single nucleotide variant |
not provided [RCV001476908] |
Chr14:67690342 [GRCh38] Chr14:68157059 [GRCh37] Chr14:14q24.1 |
likely benign |
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 |
copy number gain |
14q22.2q24.3 duplication [RCV001506967] |
Chr14:54654001..75828024 [GRCh37] Chr14:14q22.2-24.3 |
likely pathogenic |
NM_016026.4(RDH11):c.194-8G>T |
single nucleotide variant |
not provided [RCV001455864] |
Chr14:67692601 [GRCh38] Chr14:68159318 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.267A>T (p.Thr89=) |
single nucleotide variant |
RDH11-related disorder [RCV003963297]|not provided [RCV001409343] |
Chr14:67692520 [GRCh38] Chr14:68159237 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.483A>G (p.Leu161=) |
single nucleotide variant |
not provided [RCV001412214] |
Chr14:67690393 [GRCh38] Chr14:68157110 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.230del (p.Lys77fs) |
deletion |
not provided [RCV001387586] |
Chr14:67692557 [GRCh38] Chr14:68159274 [GRCh37] Chr14:14q24.1 |
pathogenic |
NM_016026.4(RDH11):c.350-4G>A |
single nucleotide variant |
not provided [RCV001442025] |
Chr14:67691248 [GRCh38] Chr14:68157965 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.854+8T>A |
single nucleotide variant |
not provided [RCV001429449] |
Chr14:67685007 [GRCh38] Chr14:68151724 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.129A>G (p.Val43=) |
single nucleotide variant |
not provided [RCV001494819] |
Chr14:67692998 [GRCh38] Chr14:68159715 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.455-14G>C |
single nucleotide variant |
not provided [RCV001520338] |
Chr14:67690435 [GRCh38] Chr14:68157152 [GRCh37] Chr14:14q24.1 |
benign |
NM_016026.4(RDH11):c.219G>C (p.Arg73=) |
single nucleotide variant |
not provided [RCV001469045] |
Chr14:67692568 [GRCh38] Chr14:68159285 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.618G>A (p.Lys206=) |
single nucleotide variant |
not provided [RCV001469058] |
Chr14:67690258 [GRCh38] Chr14:68156975 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.235G>A (p.Glu79Lys) |
single nucleotide variant |
not provided [RCV001510698] |
Chr14:67692552 [GRCh38] Chr14:68159269 [GRCh37] Chr14:14q24.1 |
benign |
NM_016026.4(RDH11):c.831G>A (p.Glu277=) |
single nucleotide variant |
not provided [RCV001483548] |
Chr14:67685038 [GRCh38] Chr14:68151755 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.665-7del |
deletion |
not provided [RCV001521962] |
Chr14:67685211 [GRCh38] Chr14:68151928 [GRCh37] Chr14:14q24.1 |
benign |
NM_016026.4(RDH11):c.74+20C>G |
single nucleotide variant |
not provided [RCV001513214] |
Chr14:67695610 [GRCh38] Chr14:68162327 [GRCh37] Chr14:14q24.1 |
benign |
NM_016026.4(RDH11):c.722G>A (p.Arg241Gln) |
single nucleotide variant |
not provided [RCV001489918] |
Chr14:67685147 [GRCh38] Chr14:68151864 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.12C>T (p.Leu4=) |
single nucleotide variant |
not provided [RCV001506940] |
Chr14:67695692 [GRCh38] Chr14:68162409 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.133G>A (p.Val45Met) |
single nucleotide variant |
RDH11-related disorder [RCV004731208]|not provided [RCV001950369] |
Chr14:67692994 [GRCh38] Chr14:68159711 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.716T>G (p.Leu239Arg) |
single nucleotide variant |
not provided [RCV001988146] |
Chr14:67685153 [GRCh38] Chr14:68151870 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.260C>T (p.Thr87Ile) |
single nucleotide variant |
not provided [RCV002022136] |
Chr14:67692527 [GRCh38] Chr14:68159244 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.69A>C (p.Gln23His) |
single nucleotide variant |
not provided [RCV001964691] |
Chr14:67695635 [GRCh38] Chr14:68162352 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.605A>G (p.Tyr202Cys) |
single nucleotide variant |
not provided [RCV002025138] |
Chr14:67690271 [GRCh38] Chr14:68156988 [GRCh37] Chr14:14q24.1 |
uncertain significance |
GRCh37/hg19 14q23.3-24.1(chr14:67443801-68153682) |
copy number gain |
not specified [RCV002053109] |
Chr14:67443801..68153682 [GRCh37] Chr14:14q23.3-24.1 |
uncertain significance |
NM_016026.4(RDH11):c.305C>G (p.Ser102Cys) |
single nucleotide variant |
not provided [RCV002041055] |
Chr14:67692482 [GRCh38] Chr14:68159199 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.425T>C (p.Phe142Ser) |
single nucleotide variant |
not provided [RCV001928832] |
Chr14:67691169 [GRCh38] Chr14:68157886 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.673G>C (p.Val225Leu) |
single nucleotide variant |
not provided [RCV001895328] |
Chr14:67685196 [GRCh38] Chr14:68151913 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.577G>A (p.Glu193Lys) |
single nucleotide variant |
not provided [RCV001983841] |
Chr14:67690299 [GRCh38] Chr14:68157016 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.290G>A (p.Arg97Gln) |
single nucleotide variant |
not provided [RCV002023944]|not specified [RCV004847889] |
Chr14:67692497 [GRCh38] Chr14:68159214 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.91G>A (p.Gly31Arg) |
single nucleotide variant |
not provided [RCV002039563] |
Chr14:67693036 [GRCh38] Chr14:68159753 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.323G>A (p.Arg108Gln) |
single nucleotide variant |
not provided [RCV002037050]|not specified [RCV004044905] |
Chr14:67692464 [GRCh38] Chr14:68159181 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.193+20A>G |
single nucleotide variant |
not provided [RCV002017655] |
Chr14:67692914 [GRCh38] Chr14:68159631 [GRCh37] Chr14:14q24.1 |
likely benign|uncertain significance |
NM_016026.4(RDH11):c.237dup (p.Leu80fs) |
duplication |
not provided [RCV001941126] |
Chr14:67692549..67692550 [GRCh38] Chr14:68159266..68159267 [GRCh37] Chr14:14q24.1 |
pathogenic |
NM_016026.4(RDH11):c.457C>G (p.His153Asp) |
single nucleotide variant |
not provided [RCV001963365] |
Chr14:67690419 [GRCh38] Chr14:68157136 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.200G>A (p.Arg67Gln) |
single nucleotide variant |
not provided [RCV001886706] |
Chr14:67692587 [GRCh38] Chr14:68159304 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.334A>G (p.Lys112Glu) |
single nucleotide variant |
not provided [RCV001989055] |
Chr14:67692453 [GRCh38] Chr14:68159170 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.50T>C (p.Leu17Pro) |
single nucleotide variant |
not provided [RCV002019078] |
Chr14:67695654 [GRCh38] Chr14:68162371 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.854+5G>A |
single nucleotide variant |
not provided [RCV001887922] |
Chr14:67685010 [GRCh38] Chr14:68151727 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.436A>G (p.Ile146Val) |
single nucleotide variant |
not provided [RCV001963552]|not specified [RCV004044531] |
Chr14:67691158 [GRCh38] Chr14:68157875 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.933C>A (p.Asp311Glu) |
single nucleotide variant |
not provided [RCV001888393] |
Chr14:67678345 [GRCh38] Chr14:68145062 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.455G>A (p.Gly152Asp) |
single nucleotide variant |
not provided [RCV001973914]|not specified [RCV004042285] |
Chr14:67690421 [GRCh38] Chr14:68157138 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.345A>C (p.Leu115Phe) |
single nucleotide variant |
not provided [RCV002047394] |
Chr14:67692442 [GRCh38] Chr14:68159159 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.208T>G (p.Leu70Val) |
single nucleotide variant |
not provided [RCV002027652] |
Chr14:67692579 [GRCh38] Chr14:68159296 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.854G>A (p.Ser285Asn) |
single nucleotide variant |
not provided [RCV002050414] |
Chr14:67685015 [GRCh38] Chr14:68151732 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.542A>G (p.His181Arg) |
single nucleotide variant |
not provided [RCV002011279] |
Chr14:67690334 [GRCh38] Chr14:68157051 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.946C>G (p.Pro316Ala) |
single nucleotide variant |
not provided [RCV002010287] |
Chr14:67678332 [GRCh38] Chr14:68145049 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.889C>T (p.Arg297Cys) |
single nucleotide variant |
not provided [RCV002050808] |
Chr14:67678389 [GRCh38] Chr14:68145106 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.677C>T (p.Thr226Met) |
single nucleotide variant |
not provided [RCV002047023] |
Chr14:67685192 [GRCh38] Chr14:68151909 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.442G>A (p.Val148Ile) |
single nucleotide variant |
not provided [RCV001976853] |
Chr14:67691152 [GRCh38] Chr14:68157869 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.212C>T (p.Ala71Val) |
single nucleotide variant |
not provided [RCV001924138] |
Chr14:67692575 [GRCh38] Chr14:68159292 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.55A>G (p.Met19Val) |
single nucleotide variant |
Optic atrophy [RCV004815663]|not provided [RCV001866757] |
Chr14:67695649 [GRCh38] Chr14:68162366 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.23T>C (p.Leu8Pro) |
single nucleotide variant |
not provided [RCV001907358] |
Chr14:67695681 [GRCh38] Chr14:68162398 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.241G>A (p.Val81Met) |
single nucleotide variant |
not provided [RCV002027928] |
Chr14:67692546 [GRCh38] Chr14:68159263 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.688G>C (p.Val230Leu) |
single nucleotide variant |
not provided [RCV001990615] |
Chr14:67685181 [GRCh38] Chr14:68151898 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.665-5A>G |
single nucleotide variant |
not provided [RCV001881988] |
Chr14:67685209 [GRCh38] Chr14:68151926 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.220G>C (p.Asp74His) |
single nucleotide variant |
not provided [RCV002036435] |
Chr14:67692567 [GRCh38] Chr14:68159284 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.289C>T (p.Arg97Trp) |
single nucleotide variant |
not provided [RCV001876344] |
Chr14:67692498 [GRCh38] Chr14:68159215 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.227A>G (p.Glu76Gly) |
single nucleotide variant |
not provided [RCV001991046] |
Chr14:67692560 [GRCh38] Chr14:68159277 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NC_000014.8:g.(?_68145038)_(68282680_?)dup |
duplication |
Spastic paraplegia [RCV001990213] |
Chr14:68145038..68282680 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.854+13T>G |
single nucleotide variant |
not provided [RCV001879482] |
Chr14:67685002 [GRCh38] Chr14:68151719 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.718G>C (p.Val240Leu) |
single nucleotide variant |
not provided [RCV002049221] |
Chr14:67685151 [GRCh38] Chr14:68151868 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.812C>T (p.Ala271Val) |
single nucleotide variant |
not provided [RCV001923084] |
Chr14:67685057 [GRCh38] Chr14:68151774 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.310A>G (p.Thr104Ala) |
single nucleotide variant |
not provided [RCV002030306] |
Chr14:67692477 [GRCh38] Chr14:68159194 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.45C>G (p.Phe15Leu) |
single nucleotide variant |
not provided [RCV001867569] |
Chr14:67695659 [GRCh38] Chr14:68162376 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.798C>T (p.Thr266=) |
single nucleotide variant |
not provided [RCV002125467] |
Chr14:67685071 [GRCh38] Chr14:68151788 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.665-10C>T |
single nucleotide variant |
not provided [RCV002210496] |
Chr14:67685214 [GRCh38] Chr14:68151931 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.665-11C>T |
single nucleotide variant |
not provided [RCV002088952] |
Chr14:67685215 [GRCh38] Chr14:68151932 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.687T>C (p.Ser229=) |
single nucleotide variant |
not provided [RCV002166724] |
Chr14:67685182 [GRCh38] Chr14:68151899 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.405C>T (p.Tyr135=) |
single nucleotide variant |
not provided [RCV002109163] |
Chr14:67691189 [GRCh38] Chr14:68157906 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.665-17A>G |
single nucleotide variant |
not provided [RCV002134546] |
Chr14:67685221 [GRCh38] Chr14:68151938 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.723G>A (p.Arg241=) |
single nucleotide variant |
not provided [RCV002215933] |
Chr14:67685146 [GRCh38] Chr14:68151863 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.715C>T (p.Leu239=) |
single nucleotide variant |
not provided [RCV002149721] |
Chr14:67685154 [GRCh38] Chr14:68151871 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.75-9T>C |
single nucleotide variant |
not provided [RCV002078817] |
Chr14:67693061 [GRCh38] Chr14:68159778 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.672C>T (p.Gly224=) |
single nucleotide variant |
not provided [RCV002212600] |
Chr14:67685197 [GRCh38] Chr14:68151914 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.132T>C (p.Val44=) |
single nucleotide variant |
not provided [RCV002169355] |
Chr14:67692995 [GRCh38] Chr14:68159712 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.771C>T (p.Ile257=) |
single nucleotide variant |
not provided [RCV002133447] |
Chr14:67685098 [GRCh38] Chr14:68151815 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.168G>A (p.Glu56=) |
single nucleotide variant |
not provided [RCV002193511] |
Chr14:67692959 [GRCh38] Chr14:68159676 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.855-19C>T |
single nucleotide variant |
not provided [RCV002121234] |
Chr14:67678442 [GRCh38] Chr14:68145159 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.652C>T (p.Arg218Trp) |
single nucleotide variant |
RDH11-related disorder [RCV003960928]|not provided [RCV002199051] |
Chr14:67690224 [GRCh38] Chr14:68156941 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.537A>G (p.Ala179=) |
single nucleotide variant |
not provided [RCV002137303] |
Chr14:67690339 [GRCh38] Chr14:68157056 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.507A>G (p.Pro169=) |
single nucleotide variant |
not provided [RCV002141155] |
Chr14:67690369 [GRCh38] Chr14:68157086 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.455-18dup |
duplication |
not provided [RCV002119967] |
Chr14:67690438..67690439 [GRCh38] Chr14:68157155..68157156 [GRCh37] Chr14:14q24.1 |
benign |
NM_016026.4(RDH11):c.363C>T (p.Leu121=) |
single nucleotide variant |
not provided [RCV002142150] |
Chr14:67691231 [GRCh38] Chr14:68157948 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.807C>T (p.His269=) |
single nucleotide variant |
RDH11-related disorder [RCV003978770]|not provided [RCV002157916] |
Chr14:67685062 [GRCh38] Chr14:68151779 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.459C>T (p.His153=) |
single nucleotide variant |
not provided [RCV002217260] |
Chr14:67690417 [GRCh38] Chr14:68157134 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.708A>G (p.Gln236=) |
single nucleotide variant |
not provided [RCV002157851] |
Chr14:67685161 [GRCh38] Chr14:68151878 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.193+10C>T |
single nucleotide variant |
not provided [RCV002099600] |
Chr14:67692924 [GRCh38] Chr14:68159641 [GRCh37] Chr14:14q24.1 |
likely benign |
NC_000014.8:g.(?_68145038)_(68238947_?)dup |
duplication |
not provided [RCV003119697] |
Chr14:68145038..68238947 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.910C>T (p.Arg304Trp) |
single nucleotide variant |
not provided [RCV002296940] |
Chr14:67678368 [GRCh38] Chr14:68145085 [GRCh37] Chr14:14q24.1 |
uncertain significance |
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 |
copy number gain |
See cases [RCV002286356] |
Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33 |
pathogenic |
NM_016026.4(RDH11):c.154G>A (p.Gly52Ser) |
single nucleotide variant |
not provided [RCV002297667] |
Chr14:67692973 [GRCh38] Chr14:68159690 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.46C>T (p.Leu16Phe) |
single nucleotide variant |
not provided [RCV002297486] |
Chr14:67695658 [GRCh38] Chr14:68162375 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.911G>A (p.Arg304Gln) |
single nucleotide variant |
not specified [RCV004323826] |
Chr14:67678367 [GRCh38] Chr14:68145084 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.179A>G (p.Glu60Gly) |
single nucleotide variant |
not provided [RCV002301380] |
Chr14:67692948 [GRCh38] Chr14:68159665 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.431T>C (p.Met144Thr) |
single nucleotide variant |
not provided [RCV002295926] |
Chr14:67691163 [GRCh38] Chr14:68157880 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.649G>A (p.Ala217Thr) |
single nucleotide variant |
not provided [RCV002815822] |
Chr14:67690227 [GRCh38] Chr14:68156944 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.319A>G (p.Ile107Val) |
single nucleotide variant |
not provided [RCV002726818] |
Chr14:67692468 [GRCh38] Chr14:68159185 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.234G>A (p.Gly78=) |
single nucleotide variant |
not provided [RCV002731322] |
Chr14:67692553 [GRCh38] Chr14:68159270 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.74+3C>A |
single nucleotide variant |
not provided [RCV002881243] |
Chr14:67695627 [GRCh38] Chr14:68162344 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.74+16T>A |
single nucleotide variant |
not provided [RCV002681149] |
Chr14:67695614 [GRCh38] Chr14:68162331 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.622G>C (p.Ala208Pro) |
single nucleotide variant |
not provided [RCV003014708] |
Chr14:67690254 [GRCh38] Chr14:68156971 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.927T>C (p.Ser309=) |
single nucleotide variant |
not provided [RCV002726947] |
Chr14:67678351 [GRCh38] Chr14:68145068 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.764T>G (p.Phe255Cys) |
single nucleotide variant |
not provided [RCV002904427] |
Chr14:67685105 [GRCh38] Chr14:68151822 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.308A>G (p.Asp103Gly) |
single nucleotide variant |
not specified [RCV004141276] |
Chr14:67692479 [GRCh38] Chr14:68159196 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.20C>T (p.Pro7Leu) |
single nucleotide variant |
not provided [RCV002842786] |
Chr14:67695684 [GRCh38] Chr14:68162401 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.352G>C (p.Glu118Gln) |
single nucleotide variant |
not specified [RCV004180245] |
Chr14:67691242 [GRCh38] Chr14:68157959 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.420T>C (p.Asp140=) |
single nucleotide variant |
not provided [RCV003037525] |
Chr14:67691174 [GRCh38] Chr14:68157891 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.535G>A (p.Ala179Thr) |
single nucleotide variant |
not provided [RCV002760595] |
Chr14:67690341 [GRCh38] Chr14:68157058 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.350-15G>A |
single nucleotide variant |
not provided [RCV002618951] |
Chr14:67691259 [GRCh38] Chr14:68157976 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.193+8C>T |
single nucleotide variant |
not provided [RCV002889197] |
Chr14:67692926 [GRCh38] Chr14:68159643 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.950T>C (p.Ile317Thr) |
single nucleotide variant |
not provided [RCV003020134] |
Chr14:67678328 [GRCh38] Chr14:68145045 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.130G>A (p.Val44Ile) |
single nucleotide variant |
not provided [RCV002618975] |
Chr14:67692997 [GRCh38] Chr14:68159714 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.411G>A (p.Lys137=) |
single nucleotide variant |
not provided [RCV002918458] |
Chr14:67691183 [GRCh38] Chr14:68157900 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.75-6C>T |
single nucleotide variant |
not provided [RCV002852747] |
Chr14:67693058 [GRCh38] Chr14:68159775 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.915G>C (p.Leu305=) |
single nucleotide variant |
not provided [RCV003057376] |
Chr14:67678363 [GRCh38] Chr14:68145080 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.151A>G (p.Thr51Ala) |
single nucleotide variant |
not provided [RCV002982223] |
Chr14:67692976 [GRCh38] Chr14:68159693 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.93G>A (p.Gly31=) |
single nucleotide variant |
not provided [RCV003041721] |
Chr14:67693034 [GRCh38] Chr14:68159751 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.934C>T (p.Leu312=) |
single nucleotide variant |
not provided [RCV002852081] |
Chr14:67678344 [GRCh38] Chr14:68145061 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.531C>T (p.Ser177=) |
single nucleotide variant |
not provided [RCV002597125] |
Chr14:67690345 [GRCh38] Chr14:68157062 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.587A>G (p.Tyr196Cys) |
single nucleotide variant |
not provided [RCV002650503] |
Chr14:67690289 [GRCh38] Chr14:68157006 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.81G>T (p.Met27Ile) |
single nucleotide variant |
not specified [RCV004135623] |
Chr14:67693046 [GRCh38] Chr14:68159763 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.217C>T (p.Arg73Trp) |
single nucleotide variant |
not provided [RCV002579749]|not specified [RCV004064351] |
Chr14:67692570 [GRCh38] Chr14:68159287 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.514A>G (p.Ile172Val) |
single nucleotide variant |
not provided [RCV003009240] |
Chr14:67690362 [GRCh38] Chr14:68157079 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.350-16C>T |
single nucleotide variant |
not provided [RCV002579851] |
Chr14:67691260 [GRCh38] Chr14:68157977 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.454+3A>G |
single nucleotide variant |
not provided [RCV003027916] |
Chr14:67691137 [GRCh38] Chr14:68157854 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.854+18T>G |
single nucleotide variant |
not provided [RCV002877492] |
Chr14:67684997 [GRCh38] Chr14:68151714 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.394A>G (p.Met132Val) |
single nucleotide variant |
not provided [RCV002746773] |
Chr14:67691200 [GRCh38] Chr14:68157917 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.307G>A (p.Asp103Asn) |
single nucleotide variant |
not provided [RCV002856239] |
Chr14:67692480 [GRCh38] Chr14:68159197 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.34C>T (p.Leu12Phe) |
single nucleotide variant |
not provided [RCV002630153] |
Chr14:67695670 [GRCh38] Chr14:68162387 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.161G>A (p.Gly54Glu) |
single nucleotide variant |
not provided [RCV003049223] |
Chr14:67692966 [GRCh38] Chr14:68159683 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.413C>T (p.Thr138Ile) |
single nucleotide variant |
not provided [RCV002630245] |
Chr14:67691181 [GRCh38] Chr14:68157898 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.585C>G (p.Phe195Leu) |
single nucleotide variant |
not provided [RCV002715931] |
Chr14:67690291 [GRCh38] Chr14:68157008 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.218G>A (p.Arg73Gln) |
single nucleotide variant |
not provided [RCV002604907]|not specified [RCV004065852] |
Chr14:67692569 [GRCh38] Chr14:68159286 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.106A>G (p.Thr36Ala) |
single nucleotide variant |
not provided [RCV002943054] |
Chr14:67693021 [GRCh38] Chr14:68159738 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.379A>G (p.Asn127Asp) |
single nucleotide variant |
not provided [RCV002583378] |
Chr14:67691215 [GRCh38] Chr14:68157932 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.476T>G (p.Leu159Arg) |
single nucleotide variant |
not provided [RCV002589370] |
Chr14:67690400 [GRCh38] Chr14:68157117 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.953A>G (p.Asp318Gly) |
single nucleotide variant |
not specified [RCV004316523] |
Chr14:67678325 [GRCh38] Chr14:68145042 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.749G>A (p.Trp250Ter) |
single nucleotide variant |
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome [RCV003159286] |
Chr14:67685120 [GRCh38] Chr14:68151837 [GRCh37] Chr14:14q24.1 |
likely pathogenic |
GRCh37/hg19 14q24.1(chr14:67906151-68183185)x3 |
copy number gain |
not provided [RCV003485040] |
Chr14:67906151..68183185 [GRCh37] Chr14:14q24.1 |
uncertain significance |
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 |
copy number gain |
not provided [RCV003485036] |
Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33 |
pathogenic |
GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3 |
copy number gain |
not provided [RCV003485034] |
Chr14:57588965..68334517 [GRCh37] Chr14:14q22.3-24.1 |
likely pathogenic |
GRCh37/hg19 14q23.3-24.1(chr14:67443098-68423187)x3 |
copy number gain |
not provided [RCV003485037] |
Chr14:67443098..68423187 [GRCh37] Chr14:14q23.3-24.1 |
uncertain significance |
NM_016026.4(RDH11):c.219G>A (p.Arg73=) |
single nucleotide variant |
not provided [RCV003700698] |
Chr14:67692568 [GRCh38] Chr14:68159285 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.408G>A (p.Ser136=) |
single nucleotide variant |
not provided [RCV003709581] |
Chr14:67691186 [GRCh38] Chr14:68157903 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.454+20C>T |
single nucleotide variant |
not provided [RCV003843484] |
Chr14:67691120 [GRCh38] Chr14:68157837 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.783G>A (p.Gln261=) |
single nucleotide variant |
not provided [RCV003872494] |
Chr14:67685086 [GRCh38] Chr14:68151803 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.723G>T (p.Arg241=) |
single nucleotide variant |
not provided [RCV003553870] |
Chr14:67685146 [GRCh38] Chr14:68151863 [GRCh37] Chr14:14q24.1 |
likely benign |
GRCh37/hg19 14q23.3-24.1(chr14:67491176-68153682)x3 |
copy number gain |
not specified [RCV003987055] |
Chr14:67491176..68153682 [GRCh37] Chr14:14q23.3-24.1 |
uncertain significance |
NM_016026.4(RDH11):c.350-7C>T |
single nucleotide variant |
not provided [RCV003863265] |
Chr14:67691251 [GRCh38] Chr14:68157968 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.194-12G>A |
single nucleotide variant |
not provided [RCV003709925] |
Chr14:67692605 [GRCh38] Chr14:68159322 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.357G>A (p.Lys119=) |
single nucleotide variant |
not provided [RCV003859375] |
Chr14:67691237 [GRCh38] Chr14:68157954 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.448C>A (p.His150Asn) |
single nucleotide variant |
not specified [RCV004443688] |
Chr14:67691146 [GRCh38] Chr14:68157863 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.-10G>C |
single nucleotide variant |
RDH11-related disorder [RCV003971680] |
Chr14:67695713 [GRCh38] Chr14:68162430 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.693C>A (p.His231Gln) |
single nucleotide variant |
not specified [RCV004443689] |
Chr14:67685176 [GRCh38] Chr14:68151893 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.890G>A (p.Arg297His) |
single nucleotide variant |
not specified [RCV004443690] |
Chr14:67678388 [GRCh38] Chr14:68145105 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NC_000014.8:g.(?_68145038)_(68276026_?)dup |
duplication |
Leber congenital amaurosis 13 [RCV004578125] |
Chr14:68145038..68276026 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NC_000014.8:g.(?_68145038)_(68282680_?)del |
deletion |
Spastic paraplegia [RCV004578073] |
Chr14:68145038..68282680 [GRCh37] Chr14:14q24.1 |
pathogenic |
NM_016026.4(RDH11):c.586T>C (p.Tyr196His) |
single nucleotide variant |
not provided [RCV005061544]|not specified [RCV004862939] |
Chr14:67690290 [GRCh38] Chr14:68157007 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.83T>A (p.Leu28Gln) |
single nucleotide variant |
not specified [RCV004849830] |
Chr14:67693044 [GRCh38] Chr14:68159761 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.194-14A>G |
single nucleotide variant |
not provided [RCV005083853] |
Chr14:67692607 [GRCh38] Chr14:68159324 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.74+18G>A |
single nucleotide variant |
not provided [RCV005083938] |
Chr14:67695612 [GRCh38] Chr14:68162329 [GRCh37] Chr14:14q24.1 |
likely benign |
NM_016026.4(RDH11):c.601G>A (p.Ala201Thr) |
single nucleotide variant |
not provided [RCV005082085] |
Chr14:67690275 [GRCh38] Chr14:68156992 [GRCh37] Chr14:14q24.1 |
uncertain significance |
NM_016026.4(RDH11):c.450C>T (p.His150=) |
single nucleotide variant |
not provided [RCV005072656] |
Chr14:67691144 [GRCh38] Chr14:68157861 [GRCh37] Chr14:14q24.1 |
likely benign |