| NM_205861.3(DHDDS):c.110G>A (p.Arg37His) |
single nucleotide variant |
Developmental delay and seizures with or without movement abnormalities [RCV000578122]|Retinitis pigmentosa 59 [RCV001858011]|not provided [RCV000519248] |
Chr1:26438214 [GRCh38]
Chr1:26764705 [GRCh37]
Chr1:1p36.11 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_205861.3(DHDDS):c.181-161A>G |
single nucleotide variant |
not provided [RCV001571446] |
Chr1:26442570 [GRCh38]
Chr1:26769061 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.766-10T>C |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002145605] |
Chr1:26468885 [GRCh38]
Chr1:26795376 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000023687]|Retinitis pigmentosa 59 [RCV000762902]|Retinitis pigmentosa [RCV000778978]|not provided [RCV001354833] |
Chr1:26438228 [GRCh38]
Chr1:26764719 [GRCh37]
Chr1:1p36.11 |
pathogenic|likely pathogenic |
| NM_205861.3(DHDDS):c.109C>A (p.Arg37Ser) |
single nucleotide variant |
not provided [RCV000658018] |
Chr1:26438213 [GRCh38]
Chr1:26764704 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.909G>T (p.Ser303=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001854439]|not provided [RCV000082244] |
Chr1:26469038 [GRCh38]
Chr1:26795529 [GRCh37]
Chr1:1p36.11 |
likely benign|uncertain significance |
| NM_205861.3(DHDDS):c.20G>A (p.Gly7Glu) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001303725] |
Chr1:26432965 [GRCh38]
Chr1:26759456 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.192G>A (p.Trp64Ter) |
single nucleotide variant |
Congenital disorder of glycosylation, type Ibb [RCV000578125] |
Chr1:26442742 [GRCh38]
Chr1:26769233 [GRCh37]
Chr1:1p36.11 |
pathogenic |
| NM_205861.3(DHDDS):c.65C>T (p.Ala22Val) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001302803] |
Chr1:26438169 [GRCh38]
Chr1:26764660 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.324-10C>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000974771]|not provided [RCV001726024]|not specified [RCV000178997] |
Chr1:26446306 [GRCh38]
Chr1:26772797 [GRCh37]
Chr1:1p36.11 |
benign|likely benign |
| GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 |
copy number gain |
See cases [RCV000138891] |
Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2 |
pathogenic |
| NM_205861.3(DHDDS):c.591T>G (p.Ser197=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001462640]|not provided [RCV000179978] |
Chr1:26457839 [GRCh38]
Chr1:26784330 [GRCh37]
Chr1:1p36.11 |
likely benign|uncertain significance |
| NM_205861.3(DHDDS):c.*515G>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000261270] |
Chr1:26469646 [GRCh38]
Chr1:26796137 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.-53T>G |
single nucleotide variant |
Retinitis pigmentosa [RCV000264584] |
Chr1:26432893 [GRCh38]
Chr1:26759384 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.917G>A (p.Arg306Gln) |
single nucleotide variant |
Retinitis pigmentosa [RCV000386265] |
Chr1:26469046 [GRCh38]
Chr1:26795537 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.990T>C (p.Thr330=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000883330]|Retinitis pigmentosa [RCV000294598] |
Chr1:26469119 [GRCh38]
Chr1:26795610 [GRCh37]
Chr1:1p36.11 |
likely benign|uncertain significance |
| NM_205861.3(DHDDS):c.468C>T (p.Tyr156=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002059478]|Retinitis pigmentosa [RCV000263611] |
Chr1:26447586 [GRCh38]
Chr1:26774077 [GRCh37]
Chr1:1p36.11 |
likely benign|uncertain significance |
| NM_205861.3(DHDDS):c.757G>A (p.Val253Met) |
single nucleotide variant |
Developmental delay and seizures with or without movement abnormalities [RCV001537673]|Retinitis pigmentosa 59 [RCV001277164]|Retinitis pigmentosa [RCV000373487]|not provided [RCV000838160] |
Chr1:26460136 [GRCh38]
Chr1:26786627 [GRCh37]
Chr1:1p36.11 |
benign |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| NM_205861.3(DHDDS):c.845T>C (p.Leu282Pro) |
single nucleotide variant |
Retinitis pigmentosa [RCV000352641] |
Chr1:26468974 [GRCh38]
Chr1:26795465 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000886316]|Retinitis pigmentosa [RCV000322201]|not specified [RCV000297294] |
Chr1:26438244 [GRCh38]
Chr1:26764735 [GRCh37]
Chr1:1p36.11 |
likely benign|uncertain significance |
| NM_205861.3(DHDDS):c.*1343C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000284192] |
Chr1:26470474 [GRCh38]
Chr1:26796965 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_024887.3(DHDDS):c.-150G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000270561] |
Chr1:26432282 [GRCh38]
Chr1:26758773 [GRCh37]
Chr1:1p36.11 |
benign|likely benign |
| NM_205861.3(DHDDS):c.*1826A>T |
single nucleotide variant |
Retinitis Pigmentosa, Recessive [RCV000335571] |
Chr1:26470957 [GRCh38]
Chr1:26797448 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*2032C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000355250] |
Chr1:26471163 [GRCh38]
Chr1:26797654 [GRCh37]
Chr1:1p36.11 |
benign|likely benign |
| NM_205861.3(DHDDS):c.*629C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000357366] |
Chr1:26469760 [GRCh38]
Chr1:26796251 [GRCh37]
Chr1:1p36.11 |
likely benign|uncertain significance |
| NM_205861.3(DHDDS):c.*1431C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000339276] |
Chr1:26470562 [GRCh38]
Chr1:26797053 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*1886C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000404184] |
Chr1:26471017 [GRCh38]
Chr1:26797508 [GRCh37]
Chr1:1p36.11 |
benign|likely benign |
| NM_205861.3(DHDDS):c.*1769G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000304050] |
Chr1:26470900 [GRCh38]
Chr1:26797391 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*128C>G |
single nucleotide variant |
Retinitis pigmentosa [RCV000406054] |
Chr1:26469259 [GRCh38]
Chr1:26795750 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*480A>G |
single nucleotide variant |
Retinitis pigmentosa [RCV000360929] |
Chr1:26469611 [GRCh38]
Chr1:26796102 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_024887.3(DHDDS):c.-119G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000361588] |
Chr1:26432313 [GRCh38]
Chr1:26758804 [GRCh37]
Chr1:1p36.11 |
likely benign|uncertain significance |
| NM_205861.3(DHDDS):c.*1300G>C |
single nucleotide variant |
Retinitis pigmentosa [RCV000383794] |
Chr1:26470431 [GRCh38]
Chr1:26796922 [GRCh37]
Chr1:1p36.11 |
benign|likely benign |
| NM_205861.3(DHDDS):c.*464T>C |
single nucleotide variant |
Retinitis pigmentosa [RCV000306192] |
Chr1:26469595 [GRCh38]
Chr1:26796086 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*769G>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000385945] |
Chr1:26469900 [GRCh38]
Chr1:26796391 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*2069A>G |
single nucleotide variant |
Retinitis pigmentosa [RCV000311365] |
Chr1:26471200 [GRCh38]
Chr1:26797691 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*2104A>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000370809] |
Chr1:26471235 [GRCh38]
Chr1:26797726 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*2045T>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000394455] |
Chr1:26471176 [GRCh38]
Chr1:26797667 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*737C>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000331436] |
Chr1:26469868 [GRCh38]
Chr1:26796359 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*1182_*1183dup |
duplication |
Retinitis Pigmentosa, Recessive [RCV000347925] |
Chr1:26470312..26470313 [GRCh38]
Chr1:26796803..26796804 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*685CTC[2] |
microsatellite |
Retinitis Pigmentosa, Recessive [RCV000262638] |
Chr1:26469816..26469818 [GRCh38]
Chr1:26796307..26796309 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*883C>G |
single nucleotide variant |
Retinitis Pigmentosa, Recessive [RCV000277468] |
Chr1:26470014 [GRCh38]
Chr1:26796505 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.922G>A (p.Glu308Lys) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001280073] |
Chr1:26469051 [GRCh38]
Chr1:26795542 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*55C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000344823] |
Chr1:26469186 [GRCh38]
Chr1:26795677 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*1178CTT[2] |
microsatellite |
Retinitis Pigmentosa, Recessive [RCV000382660] |
Chr1:26470309..26470311 [GRCh38]
Chr1:26796800..26796802 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.710T>G (p.Phe237Cys) |
single nucleotide variant |
Retinitis pigmentosa [RCV000316405] |
Chr1:26460089 [GRCh38]
Chr1:26786580 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*986T>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000332561] |
Chr1:26470117 [GRCh38]
Chr1:26796608 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*312C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000403030] |
Chr1:26469443 [GRCh38]
Chr1:26795934 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.775G>A (p.Asp259Asn) |
single nucleotide variant |
Retinitis pigmentosa [RCV000295404] |
Chr1:26468904 [GRCh38]
Chr1:26795395 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*620C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000297779] |
Chr1:26469751 [GRCh38]
Chr1:26796242 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_024887.3(DHDDS):c.-143C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000323239] |
Chr1:26432289 [GRCh38]
Chr1:26758780 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*174G>T |
single nucleotide variant |
Retinitis pigmentosa [RCV000309775] |
Chr1:26469305 [GRCh38]
Chr1:26795796 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*1179_*1180dup |
duplication |
Retinitis Pigmentosa, Recessive [RCV000288167] |
Chr1:26470309..26470310 [GRCh38]
Chr1:26796800..26796801 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.157C>G (p.Gln53Glu) |
single nucleotide variant |
Retinitis pigmentosa [RCV000374574] |
Chr1:26438261 [GRCh38]
Chr1:26764752 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*1705G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000392523] |
Chr1:26470836 [GRCh38]
Chr1:26797327 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*264del |
deletion |
Retinitis Pigmentosa, Recessive [RCV000341163] |
Chr1:26469393 [GRCh38]
Chr1:26795884 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*1995C>T |
single nucleotide variant |
Retinitis Pigmentosa, Recessive [RCV000300368] |
Chr1:26471126 [GRCh38]
Chr1:26797617 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*1497C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001099564] |
Chr1:26470628 [GRCh38]
Chr1:26797119 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln) |
single nucleotide variant |
Developmental delay and seizures with or without movement abnormalities [RCV000578123]|Retinitis pigmentosa 59 [RCV001853833]|not provided [RCV001172209] |
Chr1:26457880 [GRCh38]
Chr1:26784371 [GRCh37]
Chr1:1p36.11 |
pathogenic |
| NM_205861.3(DHDDS):c.542+8G>A |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000955689]|not specified [RCV000597862] |
Chr1:26447668 [GRCh38]
Chr1:26774159 [GRCh37]
Chr1:1p36.11 |
benign |
| NM_205861.3(DHDDS):c.592C>T (p.Pro198Ser) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001855771]|not provided [RCV000732348] |
Chr1:26457840 [GRCh38]
Chr1:26784331 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_205861.3(DHDDS):c.441-24A>G |
single nucleotide variant |
Congenital disorder of glycosylation, type Ibb [RCV000578121]|Retinitis pigmentosa 59 [RCV001860002] |
Chr1:26447535 [GRCh38]
Chr1:26774026 [GRCh37]
Chr1:1p36.11 |
pathogenic|likely pathogenic |
| NM_205861.3(DHDDS):c.940C>T (p.Leu314=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000559963] |
Chr1:26469069 [GRCh38]
Chr1:26795560 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.33T>C (p.Leu11=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000648820] |
Chr1:26432978 [GRCh38]
Chr1:26759469 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.63G>T (p.Lys21Asn) |
single nucleotide variant |
Developmental delay and seizures with or without movement abnormalities [RCV001808168] |
Chr1:26433008 [GRCh38]
Chr1:26759499 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.271G>C (p.Asp91His) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000704528] |
Chr1:26442821 [GRCh38]
Chr1:26769312 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.614G>A (p.Arg205Gln) |
single nucleotide variant |
Developmental delay and seizures with or without movement abnormalities [RCV002233230]|Retinitis pigmentosa 59 [RCV000691673]|not provided [RCV001539674] |
Chr1:26457862 [GRCh38]
Chr1:26784353 [GRCh37]
Chr1:1p36.11 |
pathogenic|likely pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_205861.3(DHDDS):c.720C>T (p.Leu240=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000976818] |
Chr1:26460099 [GRCh38]
Chr1:26786590 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.616A>G (p.Thr206Ala) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002227538]|Retinitis pigmentosa [RCV001724859]|not specified [RCV002246462] |
Chr1:26457864 [GRCh38]
Chr1:26784355 [GRCh37]
Chr1:1p36.11 |
likely pathogenic|benign |
| NM_205861.3(DHDDS):c.161_162delinsAA (p.Gly54Glu) |
indel |
not provided [RCV001547603] |
Chr1:26438265..26438266 [GRCh38]
Chr1:26764756..26764757 [GRCh37]
Chr1:1p36.11 |
likely pathogenic |
| NM_205861.3(DHDDS):c.*573C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001095983] |
Chr1:26469704 [GRCh38]
Chr1:26796195 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1 |
uncertain significance |
| NM_205861.3(DHDDS):c.-37G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV001095892] |
Chr1:26432909 [GRCh38]
Chr1:26759400 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.363G>C (p.Leu121=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000981263] |
Chr1:26446355 [GRCh38]
Chr1:26772846 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000904699]|Retinitis pigmentosa [RCV001099449]|not provided [RCV001355627]|not specified [RCV001532941] |
Chr1:26469037 [GRCh38]
Chr1:26795528 [GRCh37]
Chr1:1p36.11 |
benign|likely benign|uncertain significance |
| NM_205861.3(DHDDS):c.57C>T (p.Ile19=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000922413] |
Chr1:26433002 [GRCh38]
Chr1:26759493 [GRCh37]
Chr1:1p36.11 |
likely benign|uncertain significance |
| NM_205861.3(DHDDS):c.480T>C (p.His160=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000942371] |
Chr1:26447598 [GRCh38]
Chr1:26774089 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.570G>A (p.Lys190=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001429269]|not provided [RCV000982317] |
Chr1:26457818 [GRCh38]
Chr1:26784309 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.113G>A (p.Arg38His) |
single nucleotide variant |
Developmental delay and seizures with or without movement abnormalities [RCV000995533] |
Chr1:26438217 [GRCh38]
Chr1:26764708 [GRCh37]
Chr1:1p36.11 |
pathogenic |
| NM_205861.3(DHDDS):c.45C>T (p.Phe15=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000903882] |
Chr1:26432990 [GRCh38]
Chr1:26759481 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.519G>A (p.Val173=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000925141] |
Chr1:26447637 [GRCh38]
Chr1:26774128 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.228C>T (p.Tyr76=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000942258] |
Chr1:26442778 [GRCh38]
Chr1:26769269 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.504G>A (p.Glu168=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000930106] |
Chr1:26447622 [GRCh38]
Chr1:26774113 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000985124] |
Chr1:26460103 [GRCh38]
Chr1:26786594 [GRCh37]
Chr1:1p36.11 |
likely pathogenic |
| NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000799535]|Retinitis pigmentosa [RCV001099448] |
Chr1:26469022 [GRCh38]
Chr1:26795513 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| GRCh37/hg19 1p36.11(chr1:26603699-26903828)x3 |
copy number gain |
not provided [RCV000847959] |
Chr1:26603699..26903828 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.980G>A (p.Arg327His) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000795814] |
Chr1:26469109 [GRCh38]
Chr1:26795600 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*1261C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001097769] |
Chr1:26470392 [GRCh38]
Chr1:26796883 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.183T>C (p.Thr61=) |
single nucleotide variant |
not provided [RCV000942965] |
Chr1:26442733 [GRCh38]
Chr1:26769224 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.855G>T (p.Gly285=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001426757]|Retinitis pigmentosa [RCV001099447] |
Chr1:26468984 [GRCh38]
Chr1:26795475 [GRCh37]
Chr1:1p36.11 |
likely benign|uncertain significance |
| NM_205861.3(DHDDS):c.*1464C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001099563] |
Chr1:26470595 [GRCh38]
Chr1:26797086 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*1571A>C |
single nucleotide variant |
Retinitis pigmentosa [RCV001099565] |
Chr1:26470702 [GRCh38]
Chr1:26797193 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.987C>T (p.Gly329=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001228678] |
Chr1:26469116 [GRCh38]
Chr1:26795607 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.339G>C (p.Lys113Asn) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001239613] |
Chr1:26446331 [GRCh38]
Chr1:26772822 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.491A>G (p.Asn164Ser) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001211277] |
Chr1:26447609 [GRCh38]
Chr1:26774100 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.584A>C (p.Asn195Thr) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001198629] |
Chr1:26457832 [GRCh38]
Chr1:26784323 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*634G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV001095985] |
Chr1:26469765 [GRCh38]
Chr1:26796256 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.873C>T (p.Asp291=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000944345] |
Chr1:26469002 [GRCh38]
Chr1:26795493 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.210C>T (p.Ile70=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV000929717] |
Chr1:26442760 [GRCh38]
Chr1:26769251 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.441-10C>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001432858]|not provided [RCV000978835] |
Chr1:26447549 [GRCh38]
Chr1:26774040 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.904C>T (p.Leu302Phe) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001236635] |
Chr1:26469033 [GRCh38]
Chr1:26795524 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.706A>T (p.Thr236Ser) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001044811] |
Chr1:26460085 [GRCh38]
Chr1:26786576 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.53A>G (p.Asn18Ser) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001229845]|Retinitis pigmentosa [RCV001095893] |
Chr1:26432998 [GRCh38]
Chr1:26759489 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*733T>C |
single nucleotide variant |
Retinitis pigmentosa [RCV001095986] |
Chr1:26469864 [GRCh38]
Chr1:26796355 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.766-4del |
deletion |
Retinitis pigmentosa 59 [RCV001221127] |
Chr1:26468891 [GRCh38]
Chr1:26795382 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.848G>A (p.Arg283Gln) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001206509] |
Chr1:26468977 [GRCh38]
Chr1:26795468 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.426G>A (p.Thr142=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001462663]|not provided [RCV000936038] |
Chr1:26446418 [GRCh38]
Chr1:26772909 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.543-287T>C |
single nucleotide variant |
not provided [RCV001562598] |
Chr1:26457504 [GRCh38]
Chr1:26783995 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.817G>T (p.Asp273Tyr) |
single nucleotide variant |
Seizure [RCV001263261] |
Chr1:26468946 [GRCh38]
Chr1:26795437 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.109C>T (p.Arg37Cys) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001866177]|not provided [RCV001593456] |
Chr1:26438213 [GRCh38]
Chr1:26764704 [GRCh37]
Chr1:1p36.11 |
pathogenic|uncertain significance |
| NM_205861.3(DHDDS):c.543-209_543-208del |
deletion |
not provided [RCV001620540] |
Chr1:26457566..26457567 [GRCh38]
Chr1:26784057..26784058 [GRCh37]
Chr1:1p36.11 |
benign |
| NM_205861.3(DHDDS):c.892C>T (p.Arg298Cys) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001050034] |
Chr1:26469021 [GRCh38]
Chr1:26795512 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*109C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001099450] |
Chr1:26469240 [GRCh38]
Chr1:26795731 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.518T>C (p.Val173Ala) |
single nucleotide variant |
not provided [RCV001172208] |
Chr1:26447636 [GRCh38]
Chr1:26774127 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*433T>C |
single nucleotide variant |
Retinitis pigmentosa [RCV001101449] |
Chr1:26469564 [GRCh38]
Chr1:26796055 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*404C>G |
single nucleotide variant |
Retinitis pigmentosa [RCV001101448] |
Chr1:26469535 [GRCh38]
Chr1:26796026 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001862719]|Retinitis pigmentosa [RCV001003005] |
Chr1:26442842 [GRCh38]
Chr1:26769333 [GRCh37]
Chr1:1p36.11 |
likely pathogenic|uncertain significance |
| NM_205861.3(DHDDS):c.542+1G>A |
single nucleotide variant |
Developmental delay and seizures with or without movement abnormalities [RCV001706778] |
Chr1:26447661 [GRCh38]
Chr1:26774152 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.440+256GT[12] |
microsatellite |
not provided [RCV001645122] |
Chr1:26446687..26446688 [GRCh38]
Chr1:26773178..26773179 [GRCh37]
Chr1:1p36.11 |
benign |
| NM_205861.3(DHDDS):c.323+184_323+185insTTTTTT |
insertion |
not provided [RCV001648452] |
Chr1:26443052..26443053 [GRCh38]
Chr1:26769543..26769544 [GRCh37]
Chr1:1p36.11 |
benign |
| NM_205861.3(DHDDS):c.543-208del |
deletion |
not provided [RCV001539099] |
Chr1:26457566 [GRCh38]
Chr1:26784057 [GRCh37]
Chr1:1p36.11 |
benign |
| NM_205861.3(DHDDS):c.-55-233A>G |
single nucleotide variant |
not provided [RCV001666498] |
Chr1:26432658 [GRCh38]
Chr1:26759149 [GRCh37]
Chr1:1p36.11 |
benign |
| NM_205861.3(DHDDS):c.64-212G>A |
single nucleotide variant |
not provided [RCV001647688] |
Chr1:26437956 [GRCh38]
Chr1:26764447 [GRCh37]
Chr1:1p36.11 |
benign |
| NM_205861.3(DHDDS):c.*623G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV001095984] |
Chr1:26469754 [GRCh38]
Chr1:26796245 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.299A>C (p.Lys100Thr) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001207675] |
Chr1:26442849 [GRCh38]
Chr1:26769340 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*1574C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001099566] |
Chr1:26470705 [GRCh38]
Chr1:26797196 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*988C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001097768] |
Chr1:26470119 [GRCh38]
Chr1:26796610 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*1439C>G |
single nucleotide variant |
Retinitis pigmentosa [RCV001097770] |
Chr1:26470570 [GRCh38]
Chr1:26797061 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.962G>A (p.Arg321Gln) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001248204] |
Chr1:26469091 [GRCh38]
Chr1:26795582 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*210C>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001101446] |
Chr1:26469341 [GRCh38]
Chr1:26795832 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.604A>G (p.Ile202Val) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001246321] |
Chr1:26457852 [GRCh38]
Chr1:26784343 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.794G>A (p.Arg265Gln) |
single nucleotide variant |
Retinitis pigmentosa [RCV001097675] |
Chr1:26468923 [GRCh38]
Chr1:26795414 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.817G>A (p.Asp273Asn) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001248180] |
Chr1:26468946 [GRCh38]
Chr1:26795437 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.307C>T (p.Arg103Cys) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001051780] |
Chr1:26442857 [GRCh38]
Chr1:26769348 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.919G>C (p.Glu307Gln) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001062572] |
Chr1:26469048 [GRCh38]
Chr1:26795539 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.*226C>G |
single nucleotide variant |
Retinitis pigmentosa [RCV001101447] |
Chr1:26469357 [GRCh38]
Chr1:26795848 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.104G>A (p.Gly35Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV001266622]|Retinitis pigmentosa 59 [RCV001880122]|not provided [RCV001577222] |
Chr1:26438208 [GRCh38]
Chr1:26764699 [GRCh37]
Chr1:1p36.11 |
likely pathogenic|uncertain significance |
| NM_205861.3(DHDDS):c.324-4T>G |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001313825] |
Chr1:26446312 [GRCh38]
Chr1:26772803 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.85A>G (p.Ile29Val) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001317360] |
Chr1:26438189 [GRCh38]
Chr1:26764680 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.711T>G (p.Phe237Leu) |
single nucleotide variant |
Developmental delay and seizures with or without movement abnormalities [RCV001329382] |
Chr1:26460090 [GRCh38]
Chr1:26786581 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.366C>T (p.Gly122=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001350415] |
Chr1:26446358 [GRCh38]
Chr1:26772849 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.621T>A (p.Ser207=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001339789] |
Chr1:26457869 [GRCh38]
Chr1:26784360 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.387G>C (p.Leu129Phe) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001301115] |
Chr1:26446379 [GRCh38]
Chr1:26772870 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.399G>C (p.Glu133Asp) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001296022] |
Chr1:26446391 [GRCh38]
Chr1:26772882 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.476G>A (p.Arg159His) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001317792] |
Chr1:26447594 [GRCh38]
Chr1:26774085 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.886A>C (p.Arg296=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001392499] |
Chr1:26469015 [GRCh38]
Chr1:26795506 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.681C>G (p.Phe227Leu) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001376410] |
Chr1:26460060 [GRCh38]
Chr1:26786551 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.874G>A (p.Ala292Thr) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001372883] |
Chr1:26469003 [GRCh38]
Chr1:26795494 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.274G>A (p.Gly92Arg) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001321972] |
Chr1:26442824 [GRCh38]
Chr1:26769315 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.308G>A (p.Arg103His) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001341105] |
Chr1:26442858 [GRCh38]
Chr1:26769349 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.202C>T (p.Leu68=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001396028] |
Chr1:26442752 [GRCh38]
Chr1:26769243 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.299A>G (p.Lys100Arg) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001295530] |
Chr1:26442849 [GRCh38]
Chr1:26769340 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.181-7C>G |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001492100] |
Chr1:26442724 [GRCh38]
Chr1:26769215 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.440+8C>A |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001487306] |
Chr1:26446440 [GRCh38]
Chr1:26772931 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.348G>A (p.Val116=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001485803] |
Chr1:26446340 [GRCh38]
Chr1:26772831 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.723C>T (p.Phe241=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001471367] |
Chr1:26460102 [GRCh38]
Chr1:26786593 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.702G>A (p.Glu234=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001471796] |
Chr1:26460081 [GRCh38]
Chr1:26786572 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.181-9C>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001492878] |
Chr1:26442722 [GRCh38]
Chr1:26769213 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.498G>A (p.Val166=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001492983] |
Chr1:26447616 [GRCh38]
Chr1:26774107 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.459T>C (p.Cys153=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001466541] |
Chr1:26447577 [GRCh38]
Chr1:26774068 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.423C>T (p.Ala141=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001470895] |
Chr1:26446415 [GRCh38]
Chr1:26772906 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.564T>C (p.Leu188=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001518446] |
Chr1:26457812 [GRCh38]
Chr1:26784303 [GRCh37]
Chr1:1p36.11 |
benign |
| NM_205861.3(DHDDS):c.181-5C>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001469145] |
Chr1:26442726 [GRCh38]
Chr1:26769217 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.766-10T>G |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001493626] |
Chr1:26468885 [GRCh38]
Chr1:26795376 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.542+7C>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001441032] |
Chr1:26447667 [GRCh38]
Chr1:26774158 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.64-7T>C |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001439570] |
Chr1:26438161 [GRCh38]
Chr1:26764652 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.516G>C (p.Gly172=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001409650] |
Chr1:26447634 [GRCh38]
Chr1:26774125 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.465A>G (p.Ala155=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001446426] |
Chr1:26447583 [GRCh38]
Chr1:26774074 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.264T>C (p.Ser88=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001430728] |
Chr1:26442814 [GRCh38]
Chr1:26769305 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.543-7A>G |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001418591] |
Chr1:26457784 [GRCh38]
Chr1:26784275 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.658-2A>G |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001377031] |
Chr1:26460035 [GRCh38]
Chr1:26786526 [GRCh37]
Chr1:1p36.11 |
likely pathogenic |
| NM_205861.3(DHDDS):c.181-16C>A |
single nucleotide variant |
Developmental delay and seizures with or without movement abnormalities [RCV001420530]|Retinitis pigmentosa 59 [RCV002070261] |
Chr1:26442715 [GRCh38]
Chr1:26769206 [GRCh37]
Chr1:1p36.11 |
likely benign|uncertain significance |
| NM_205861.3(DHDDS):c.517dup (p.Val173fs) |
duplication |
Retinitis pigmentosa 59 [RCV001381692] |
Chr1:26447629..26447630 [GRCh38]
Chr1:26774120..26774121 [GRCh37]
Chr1:1p36.11 |
pathogenic |
| NM_205861.3(DHDDS):c.651A>G (p.Leu217=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001445058] |
Chr1:26457899 [GRCh38]
Chr1:26784390 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.219G>A (p.Val73=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001447677] |
Chr1:26442769 [GRCh38]
Chr1:26769260 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.374_377dup (p.Pro128fs) |
duplication |
Retinitis pigmentosa 59 [RCV001390488] |
Chr1:26446365..26446366 [GRCh38]
Chr1:26772856..26772857 [GRCh37]
Chr1:1p36.11 |
pathogenic |
| NM_205861.3(DHDDS):c.312G>A (p.Leu104=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001410864] |
Chr1:26442862 [GRCh38]
Chr1:26769353 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.324-7T>C |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001442945] |
Chr1:26446309 [GRCh38]
Chr1:26772800 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.837G>A (p.Glu279=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001448450] |
Chr1:26468966 [GRCh38]
Chr1:26795457 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.549C>T (p.Ile183=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001461487] |
Chr1:26457797 [GRCh38]
Chr1:26784288 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.231A>G (p.Ala77=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001490522] |
Chr1:26442781 [GRCh38]
Chr1:26769272 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.64-9A>C |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001496806] |
Chr1:26438159 [GRCh38]
Chr1:26764650 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.270A>T (p.Val90=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001496880] |
Chr1:26442820 [GRCh38]
Chr1:26769311 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.543-10C>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001503974] |
Chr1:26457781 [GRCh38]
Chr1:26784272 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.42G>C (p.Arg14=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001428466] |
Chr1:26432987 [GRCh38]
Chr1:26759478 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.658-8T>C |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001468981] |
Chr1:26460029 [GRCh38]
Chr1:26786520 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.273C>T (p.Asp91=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001467331] |
Chr1:26442823 [GRCh38]
Chr1:26769314 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NC_000001.10:g.(?_25870180)_(26795632_?)del |
deletion |
Hypercholesterolemia, familial, 4 [RCV001385284] |
Chr1:25870180..26795632 [GRCh37]
Chr1:1p36.11 |
pathogenic |
| NM_205861.3(DHDDS):c.361C>T (p.Leu121=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001453618] |
Chr1:26446353 [GRCh38]
Chr1:26772844 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.441-5C>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001454794] |
Chr1:26447554 [GRCh38]
Chr1:26774045 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.111T>G (p.Arg37=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001440617] |
Chr1:26438215 [GRCh38]
Chr1:26764706 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.78G>A (p.Pro26=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001418499] |
Chr1:26438182 [GRCh38]
Chr1:26764673 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.756C>T (p.Ser252=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001427673] |
Chr1:26460135 [GRCh38]
Chr1:26786626 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.912C>G (p.Ala304=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001424410] |
Chr1:26469041 [GRCh38]
Chr1:26795532 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.542+7C>A |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001402562] |
Chr1:26447667 [GRCh38]
Chr1:26774158 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.186G>T (p.Leu62=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001427066] |
Chr1:26442736 [GRCh38]
Chr1:26769227 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.802C>T (p.Gln268Ter) |
single nucleotide variant |
not specified [RCV001733406] |
Chr1:26468931 [GRCh38]
Chr1:26795422 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.517G>A (p.Val173Met) |
single nucleotide variant |
Developmental delay and seizures with or without movement abnormalities [RCV001808842] |
Chr1:26447635 [GRCh38]
Chr1:26774126 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.323A>G (p.Lys108Arg) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001863625] |
Chr1:26442873 [GRCh38]
Chr1:26769364 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.293G>A (p.Arg98Gln) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002042422] |
Chr1:26442843 [GRCh38]
Chr1:26769334 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.425C>T (p.Thr142Met) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002025779] |
Chr1:26446417 [GRCh38]
Chr1:26772908 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.668C>G (p.Ser223Cys) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001874906] |
Chr1:26460047 [GRCh38]
Chr1:26786538 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.404T>C (p.Ile135Thr) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002025074] |
Chr1:26446396 [GRCh38]
Chr1:26772887 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.441-2A>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002043905] |
Chr1:26447557 [GRCh38]
Chr1:26774048 [GRCh37]
Chr1:1p36.11 |
likely pathogenic |
| GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3 |
copy number gain |
not provided [RCV001829142] |
Chr1:26246213..27044118 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.441-20T>G |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002006978] |
Chr1:26447539 [GRCh38]
Chr1:26774030 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.512G>T (p.Trp171Leu) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001966946] |
Chr1:26447630 [GRCh38]
Chr1:26774121 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.74T>G (p.Met25Arg) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001987822] |
Chr1:26438178 [GRCh38]
Chr1:26764669 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.547A>C (p.Ile183Leu) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001874607] |
Chr1:26457795 [GRCh38]
Chr1:26784286 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.714G>A (p.Trp238Ter) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001896662] |
Chr1:26460093 [GRCh38]
Chr1:26786584 [GRCh37]
Chr1:1p36.11 |
pathogenic |
| NM_205861.3(DHDDS):c.565G>A (p.Asp189Asn) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002039943] |
Chr1:26457813 [GRCh38]
Chr1:26784304 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.102C>T (p.Asp34=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001983094] |
Chr1:26438206 [GRCh38]
Chr1:26764697 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.587G>A (p.Arg196His) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001910268] |
Chr1:26457835 [GRCh38]
Chr1:26784326 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.916C>T (p.Arg306Trp) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002004206] |
Chr1:26469045 [GRCh38]
Chr1:26795536 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.139C>T (p.Arg47Trp) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001945640] |
Chr1:26438243 [GRCh38]
Chr1:26764734 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.684A>G (p.Gln228=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001985813] |
Chr1:26460063 [GRCh38]
Chr1:26786554 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.979C>T (p.Arg327Cys) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001912779] |
Chr1:26469108 [GRCh38]
Chr1:26795599 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.112C>T (p.Arg38Cys) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001966556] |
Chr1:26438216 [GRCh38]
Chr1:26764707 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.208A>C (p.Ile70Leu) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001873012] |
Chr1:26442758 [GRCh38]
Chr1:26769249 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.744G>C (p.Gln248His) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001895424] |
Chr1:26460123 [GRCh38]
Chr1:26786614 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.259A>G (p.Lys87Glu) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001984413] |
Chr1:26442809 [GRCh38]
Chr1:26769300 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.143A>G (p.Gln48Arg) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001877500] |
Chr1:26438247 [GRCh38]
Chr1:26764738 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.58A>G (p.Ile20Val) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001944378] |
Chr1:26433003 [GRCh38]
Chr1:26759494 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.350G>C (p.Cys117Ser) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001932784] |
Chr1:26446342 [GRCh38]
Chr1:26772833 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.254G>A (p.Arg85His) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002001034] |
Chr1:26442804 [GRCh38]
Chr1:26769295 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.722T>G (p.Phe241Cys) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001934713] |
Chr1:26460101 [GRCh38]
Chr1:26786592 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.709T>C (p.Phe237Leu) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001975273] |
Chr1:26460088 [GRCh38]
Chr1:26786579 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.822G>C (p.Gln274His) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001977841] |
Chr1:26468951 [GRCh38]
Chr1:26795442 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.733C>G (p.Leu245Val) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001952889] |
Chr1:26460112 [GRCh38]
Chr1:26786603 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.475C>T (p.Arg159Cys) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001920520] |
Chr1:26447593 [GRCh38]
Chr1:26774084 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.440A>G (p.Lys147Arg) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001935164] |
Chr1:26446432 [GRCh38]
Chr1:26772923 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.22G>C (p.Glu8Gln) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002031533] |
Chr1:26432967 [GRCh38]
Chr1:26759458 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.909G>A (p.Ser303=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001899476] |
Chr1:26469038 [GRCh38]
Chr1:26795529 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.419A>G (p.Gln140Arg) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002010779] |
Chr1:26446411 [GRCh38]
Chr1:26772902 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.510dup (p.Trp171fs) |
duplication |
Retinitis pigmentosa 59 [RCV001933078] |
Chr1:26447626..26447627 [GRCh38]
Chr1:26774117..26774118 [GRCh37]
Chr1:1p36.11 |
pathogenic |
| NM_205861.3(DHDDS):c.542+11T>G |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001922197] |
Chr1:26447671 [GRCh38]
Chr1:26774162 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.691C>G (p.Leu231Val) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001879590] |
Chr1:26460070 [GRCh38]
Chr1:26786561 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.765+5G>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002013905] |
Chr1:26460149 [GRCh38]
Chr1:26786640 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.447C>A (p.Phe149Leu) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001870339] |
Chr1:26447565 [GRCh38]
Chr1:26774056 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.86T>C (p.Ile29Thr) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001906321] |
Chr1:26438190 [GRCh38]
Chr1:26764681 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.688G>A (p.Val230Ile) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001939171] |
Chr1:26460067 [GRCh38]
Chr1:26786558 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.866G>T (p.Ser289Ile) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001866533] |
Chr1:26468995 [GRCh38]
Chr1:26795486 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.64-12C>A |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001953751] |
Chr1:26438156 [GRCh38]
Chr1:26764647 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NC_000001.10:g.(?_26764639)_(26764795_?)del |
deletion |
Retinitis pigmentosa 59 [RCV002050276] |
Chr1:26764639..26764795 [GRCh37]
Chr1:1p36.11 |
likely pathogenic |
| NC_000001.10:g.(?_26784272)_(26784406_?)del |
deletion |
Retinitis pigmentosa 59 [RCV002050277] |
Chr1:26784272..26784406 [GRCh37]
Chr1:1p36.11 |
likely pathogenic |
| NM_205861.3(DHDDS):c.390T>G (p.Asp130Glu) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002046439] |
Chr1:26446382 [GRCh38]
Chr1:26772873 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.542+6C>G |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001922195] |
Chr1:26447666 [GRCh38]
Chr1:26774157 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.411A>C (p.Gln137His) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001904951] |
Chr1:26446403 [GRCh38]
Chr1:26772894 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.425C>G (p.Thr142Arg) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001897671] |
Chr1:26446417 [GRCh38]
Chr1:26772908 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.765+18G>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001939084] |
Chr1:26460162 [GRCh38]
Chr1:26786653 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.658-11_658-9dup |
duplication |
Retinitis pigmentosa 59 [RCV002033825] |
Chr1:26460025..26460026 [GRCh38]
Chr1:26786516..26786517 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.590C>G (p.Ser197Cys) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001866712] |
Chr1:26457838 [GRCh38]
Chr1:26784329 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.793C>T (p.Arg265Trp) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV001897859] |
Chr1:26468922 [GRCh38]
Chr1:26795413 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
| NM_205861.3(DHDDS):c.813G>A (p.Glu271=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002144978] |
Chr1:26468942 [GRCh38]
Chr1:26795433 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.64-12C>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002187959] |
Chr1:26438156 [GRCh38]
Chr1:26764647 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.658-9C>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002165197] |
Chr1:26460028 [GRCh38]
Chr1:26786519 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.753T>C (p.His251=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002207974] |
Chr1:26460132 [GRCh38]
Chr1:26786623 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.561G>T (p.Leu187=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002189855] |
Chr1:26457809 [GRCh38]
Chr1:26784300 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.126G>A (p.Lys42=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002169714] |
Chr1:26438230 [GRCh38]
Chr1:26764721 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.750C>T (p.Asn250=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002071410] |
Chr1:26460129 [GRCh38]
Chr1:26786620 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.440+14T>G |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002111795] |
Chr1:26446446 [GRCh38]
Chr1:26772937 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.63+13C>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002168684] |
Chr1:26433021 [GRCh38]
Chr1:26759512 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.603C>T (p.Asp201=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002086436] |
Chr1:26457851 [GRCh38]
Chr1:26784342 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.957C>G (p.Leu319=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002106491] |
Chr1:26469086 [GRCh38]
Chr1:26795577 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.646T>C (p.Leu216=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002129900] |
Chr1:26457894 [GRCh38]
Chr1:26784385 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.916C>A (p.Arg306=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002088645] |
Chr1:26469045 [GRCh38]
Chr1:26795536 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.186G>A (p.Leu62=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002210476] |
Chr1:26442736 [GRCh38]
Chr1:26769227 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.323+10T>C |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002169669] |
Chr1:26442883 [GRCh38]
Chr1:26769374 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.6A>G (p.Ser2=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002128967] |
Chr1:26432951 [GRCh38]
Chr1:26759442 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.81A>G (p.Lys27=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002135137] |
Chr1:26438185 [GRCh38]
Chr1:26764676 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.180+9G>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002151254] |
Chr1:26438293 [GRCh38]
Chr1:26764784 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.294G>T (p.Arg98=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002193295] |
Chr1:26442844 [GRCh38]
Chr1:26769335 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.855G>A (p.Gly285=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002174830] |
Chr1:26468984 [GRCh38]
Chr1:26795475 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.429G>A (p.Lys143=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002134716] |
Chr1:26446421 [GRCh38]
Chr1:26772912 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.766-6dup |
duplication |
Retinitis pigmentosa 59 [RCV002186933] |
Chr1:26468888..26468889 [GRCh38]
Chr1:26795379..26795380 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.588C>A (p.Arg196=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002149194] |
Chr1:26457836 [GRCh38]
Chr1:26784327 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.357G>C (p.Arg119=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002080269] |
Chr1:26446349 [GRCh38]
Chr1:26772840 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.63+11del |
deletion |
Retinitis pigmentosa 59 [RCV002131633] |
Chr1:26433018 [GRCh38]
Chr1:26759509 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.711T>C (p.Phe237=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002114201] |
Chr1:26460090 [GRCh38]
Chr1:26786581 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.658-11A>G |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002194899] |
Chr1:26460026 [GRCh38]
Chr1:26786517 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.789G>A (p.Glu263=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002132939] |
Chr1:26468918 [GRCh38]
Chr1:26795409 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.450G>A (p.Leu150=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002220530] |
Chr1:26447568 [GRCh38]
Chr1:26774059 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.93C>T (p.Phe31=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002201439] |
Chr1:26438197 [GRCh38]
Chr1:26764688 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.309C>T (p.Arg103=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002135761] |
Chr1:26442859 [GRCh38]
Chr1:26769350 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.440+20T>C |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002180481] |
Chr1:26446452 [GRCh38]
Chr1:26772943 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.542+16T>C |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002099883] |
Chr1:26447676 [GRCh38]
Chr1:26774167 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.441-18C>A |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002139238] |
Chr1:26447541 [GRCh38]
Chr1:26774032 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.687C>T (p.Pro229=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002175474] |
Chr1:26460066 [GRCh38]
Chr1:26786557 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.847C>A (p.Arg283=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002163639] |
Chr1:26468976 [GRCh38]
Chr1:26795467 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.846G>T (p.Leu282=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002141786] |
Chr1:26468975 [GRCh38]
Chr1:26795466 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.879G>A (p.Gln293=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002164053] |
Chr1:26469008 [GRCh38]
Chr1:26795499 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.438C>T (p.Asn146=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002221023] |
Chr1:26446430 [GRCh38]
Chr1:26772921 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.621T>C (p.Ser207=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002102459] |
Chr1:26457869 [GRCh38]
Chr1:26784360 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.738G>A (p.Gln246=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002141142] |
Chr1:26460117 [GRCh38]
Chr1:26786608 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.294G>A (p.Arg98=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002161801] |
Chr1:26442844 [GRCh38]
Chr1:26769335 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.766-18C>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002217487] |
Chr1:26468877 [GRCh38]
Chr1:26795368 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.808C>T (p.Leu270=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002139974] |
Chr1:26468937 [GRCh38]
Chr1:26795428 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.181-7C>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002118709] |
Chr1:26442724 [GRCh38]
Chr1:26769215 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.543-8C>G |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002219760] |
Chr1:26457783 [GRCh38]
Chr1:26784274 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.561G>A (p.Leu187=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002135622] |
Chr1:26457809 [GRCh38]
Chr1:26784300 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.198G>A (p.Leu66=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002183663] |
Chr1:26442748 [GRCh38]
Chr1:26769239 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.138G>A (p.Glu46=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002181491] |
Chr1:26438242 [GRCh38]
Chr1:26764733 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.213A>G (p.Leu71=) |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002155162] |
Chr1:26442763 [GRCh38]
Chr1:26769254 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.542+8G>T |
single nucleotide variant |
Retinitis pigmentosa 59 [RCV002159300] |
Chr1:26447668 [GRCh38]
Chr1:26774159 [GRCh37]
Chr1:1p36.11 |
likely benign |
| NM_205861.3(DHDDS):c.438C>G (p.Asn146Lys) |
single nucleotide variant |
not specified [RCV002247131] |
Chr1:26446430 [GRCh38]
Chr1:26772921 [GRCh37]
Chr1:1p36.11 |
uncertain significance |
