NM_012106.4(ARL2BP):c.101-1G>C |
single nucleotide variant |
Autosomal recessive retinitis pigmentosa [RCV001257802]|Retinitis pigmentosa [RCV001002870]|Retinitis pigmentosa with or without situs inversus [RCV000055664] |
Chr16:57248536 [GRCh38] Chr16:57282448 [GRCh37] Chr16:16q13 |
pathogenic |
NM_012106.4(ARL2BP):c.134T>G (p.Met45Arg) |
single nucleotide variant |
Retinitis pigmentosa with or without situs inversus [RCV000055665]|not provided [RCV001235488] |
Chr16:57248570 [GRCh38] Chr16:57282482 [GRCh37] Chr16:16q13 |
pathogenic|uncertain significance |
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 |
copy number gain |
See cases [RCV000052405] |
Chr16:56883592..71279975 [GRCh38] Chr16:56917504..71313878 [GRCh37] Chr16:55475005..69871379 [NCBI36] Chr16:16q13-22.2 |
pathogenic |
GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1 |
copy number loss |
See cases [RCV000133738] |
Chr16:55457477..63841622 [GRCh38] Chr16:55491389..63875526 [GRCh37] Chr16:54048890..62433027 [NCBI36] Chr16:16q12.2-21 |
pathogenic |
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 |
copy number gain |
See cases [RCV000143425] |
Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3 |
pathogenic |
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 |
copy number gain |
See cases [RCV000143752] |
Chr16:49685521..68401712 [GRCh38] Chr16:49719432..68435615 [GRCh37] Chr16:48276933..66993116 [NCBI36] Chr16:16q12.1-22.1 |
pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207138] |
Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3 |
uncertain significance |
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207067] |
Chr16:55359026..70884455 [GRCh37] Chr16:16q12.2-22.2 |
likely pathogenic|uncertain significance |
Single allele |
complex |
Breast ductal adenocarcinoma [RCV000207314] |
Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3 |
uncertain significance |
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 |
copy number gain |
See cases [RCV000446110] |
Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_012106.4(ARL2BP):c.207+1G>A |
single nucleotide variant |
ARL2BP-related disorder [RCV003392337]|Retinal dystrophy [RCV000504888]|Retinitis pigmentosa with or without situs inversus [RCV004698499]|not provided [RCV001857201] |
Chr16:57248644 [GRCh38] Chr16:57282556 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
NM_012106.4(ARL2BP):c.259G>A (p.Glu87Lys) |
single nucleotide variant |
not provided [RCV001511408]|not specified [RCV000454554] |
Chr16:57249818 [GRCh38] Chr16:57283730 [GRCh37] Chr16:16q13 |
benign|likely benign |
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 |
copy number gain |
See cases [RCV000511622] |
Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3 |
uncertain significance |
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 |
copy number gain |
See cases [RCV000511791] |
Chr16:34197492..64509054 [GRCh37] Chr16:16p11.2-q21 |
pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] |
Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] |
Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 |
copy number gain |
See cases [RCV000512511] |
Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3 |
pathogenic |
NM_012106.4(ARL2BP):c.207+1G>T |
single nucleotide variant |
Autosomal recessive retinitis pigmentosa [RCV001257803]|Retinitis pigmentosa with or without situs inversus [RCV000677195] |
Chr16:57248644 [GRCh38] Chr16:57282556 [GRCh37] Chr16:16q13 |
pathogenic |
GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1 |
copy number loss |
not provided [RCV000683823] |
Chr16:56950941..60203590 [GRCh37] Chr16:16q13-21 |
pathogenic|likely pathogenic |
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 |
copy number gain |
not provided [RCV000683820] |
Chr16:54416050..72453266 [GRCh37] Chr16:16q12.2-22.2 |
pathogenic |
NM_012106.4(ARL2BP):c.38+2T>G |
single nucleotide variant |
Retinitis pigmentosa [RCV001002869] |
Chr16:57245407 [GRCh38] Chr16:57279319 [GRCh37] Chr16:16q13 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_012106.4(ARL2BP):c.207C>T (p.Tyr69=) |
single nucleotide variant |
not provided [RCV000908109] |
Chr16:57248643 [GRCh38] Chr16:57282555 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.39-1G>C |
single nucleotide variant |
not provided [RCV001055258] |
Chr16:57246079 [GRCh38] Chr16:57279991 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_012106.4(ARL2BP):c.449A>G (p.Lys150Arg) |
single nucleotide variant |
not provided [RCV002001539] |
Chr16:57252224 [GRCh38] Chr16:57286136 [GRCh37] Chr16:16q13 |
uncertain significance |
GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3 |
copy number gain |
not provided [RCV000848548] |
Chr16:53455650..64006604 [GRCh37] Chr16:16q12.2-21 |
uncertain significance |
NM_012106.4(ARL2BP):c.324A>G (p.Ile108Met) |
single nucleotide variant |
not provided [RCV001234478] |
Chr16:57250441 [GRCh38] Chr16:57284353 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.485G>A (p.Arg162Gln) |
single nucleotide variant |
not provided [RCV000974539] |
Chr16:57252260 [GRCh38] Chr16:57286172 [GRCh37] Chr16:16q13 |
benign |
NM_012106.4(ARL2BP):c.391-10T>A |
single nucleotide variant |
not provided [RCV000903156] |
Chr16:57252156 [GRCh38] Chr16:57286068 [GRCh37] Chr16:16q13 |
benign |
Single allele |
duplication |
not provided [RCV001542388] |
Chr16:46385317..61223349 [GRCh38] Chr16:16q11.2-21 |
pathogenic |
NM_012106.4(ARL2BP):c.206A>G (p.Tyr69Cys) |
single nucleotide variant |
not provided [RCV001067441] |
Chr16:57248642 [GRCh38] Chr16:57282554 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.251G>A (p.Arg84Gln) |
single nucleotide variant |
not provided [RCV001048860] |
Chr16:57249810 [GRCh38] Chr16:57283722 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.269T>A (p.Met90Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004960717]|not provided [RCV001303221] |
Chr16:57249828 [GRCh38] Chr16:57283740 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.391-3T>C |
single nucleotide variant |
not provided [RCV001368674] |
Chr16:57252163 [GRCh38] Chr16:57286075 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.100+4A>C |
single nucleotide variant |
not provided [RCV001363307] |
Chr16:57246145 [GRCh38] Chr16:57280057 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.190C>A (p.Pro64Thr) |
single nucleotide variant |
not provided [RCV001343794] |
Chr16:57248626 [GRCh38] Chr16:57282538 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.101-7G>A |
single nucleotide variant |
not provided [RCV001373993] |
Chr16:57248530 [GRCh38] Chr16:57282442 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.299A>G (p.His100Arg) |
single nucleotide variant |
not provided [RCV001369026] |
Chr16:57250416 [GRCh38] Chr16:57284328 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.182T>C (p.Ile61Thr) |
single nucleotide variant |
not provided [RCV001313250] |
Chr16:57248618 [GRCh38] Chr16:57282530 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.46G>T (p.Ala16Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002547564]|not provided [RCV001352594] |
Chr16:57246087 [GRCh38] Chr16:57279999 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.72G>A (p.Val24=) |
single nucleotide variant |
not provided [RCV001297764] |
Chr16:57246113 [GRCh38] Chr16:57280025 [GRCh37] Chr16:16q13 |
likely benign|uncertain significance |
NM_012106.4(ARL2BP):c.327C>T (p.Phe109=) |
single nucleotide variant |
not provided [RCV001399108] |
Chr16:57250444 [GRCh38] Chr16:57284356 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.138C>T (p.Asp46=) |
single nucleotide variant |
Retinal dystrophy [RCV003888093]|not provided [RCV001397757] |
Chr16:57248574 [GRCh38] Chr16:57282486 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.294-8G>A |
single nucleotide variant |
ARL2BP-related disorder [RCV003908659]|not provided [RCV001445082] |
Chr16:57250403 [GRCh38] Chr16:57284315 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.483G>T (p.Leu161=) |
single nucleotide variant |
not provided [RCV001425622] |
Chr16:57252258 [GRCh38] Chr16:57286170 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.105C>T (p.Asp35=) |
single nucleotide variant |
not provided [RCV001415990] |
Chr16:57248541 [GRCh38] Chr16:57282453 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.293+5G>A |
single nucleotide variant |
Retinitis pigmentosa with or without situs inversus [RCV001726538]|not provided [RCV001871962] |
Chr16:57249857 [GRCh38] Chr16:57283769 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
NM_012106.4(ARL2BP):c.261G>C (p.Glu87Asp) |
single nucleotide variant |
not provided [RCV001914322] |
Chr16:57249820 [GRCh38] Chr16:57283732 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.208-3C>T |
single nucleotide variant |
not provided [RCV002024327] |
Chr16:57249764 [GRCh38] Chr16:57283676 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.7G>A (p.Ala3Thr) |
single nucleotide variant |
not provided [RCV001983574] |
Chr16:57245374 [GRCh38] Chr16:57279286 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.250C>T (p.Arg84Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002553448]|Retinal dystrophy [RCV004815720]|not provided [RCV001890335] |
Chr16:57249809 [GRCh38] Chr16:57283721 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.328G>A (p.Asp110Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003289143]|not provided [RCV001947171] |
Chr16:57250445 [GRCh38] Chr16:57284357 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.106G>A (p.Glu36Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002642114]|not provided [RCV002042592] |
Chr16:57248542 [GRCh38] Chr16:57282454 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.94A>G (p.Ile32Val) |
single nucleotide variant |
not provided [RCV001905754] |
Chr16:57246135 [GRCh38] Chr16:57280047 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.394A>G (p.Lys132Glu) |
single nucleotide variant |
not provided [RCV002035775] |
Chr16:57252169 [GRCh38] Chr16:57286081 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.484C>T (p.Arg162Trp) |
single nucleotide variant |
not provided [RCV002036838] |
Chr16:57252259 [GRCh38] Chr16:57286171 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.458C>T (p.Ser153Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002549036]|not provided [RCV002038747] |
Chr16:57252233 [GRCh38] Chr16:57286145 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.477C>G (p.Asn159Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004953126]|not provided [RCV002037489] |
Chr16:57252252 [GRCh38] Chr16:57286164 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.99G>A (p.Met33Ile) |
single nucleotide variant |
not provided [RCV002033357] |
Chr16:57246140 [GRCh38] Chr16:57280052 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.14A>G (p.Glu5Gly) |
single nucleotide variant |
not provided [RCV001955934] |
Chr16:57245381 [GRCh38] Chr16:57279293 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.294-17_342del |
deletion |
not provided [RCV002032175] |
Chr16:57250392..57250457 [GRCh38] Chr16:57284304..57284369 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_012106.4(ARL2BP):c.355C>G (p.Leu119Val) |
single nucleotide variant |
not provided [RCV001882340] |
Chr16:57250472 [GRCh38] Chr16:57284384 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.139_143dup (p.Tyr48Ter) |
duplication |
not provided [RCV001875189] |
Chr16:57248574..57248575 [GRCh38] Chr16:57282486..57282487 [GRCh37] Chr16:16q13 |
pathogenic |
NM_012106.4(ARL2BP):c.97A>G (p.Met33Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003167339]|not provided [RCV001952610] |
Chr16:57246138 [GRCh38] Chr16:57280050 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.455C>T (p.Ser152Phe) |
single nucleotide variant |
not provided [RCV002047840] |
Chr16:57252230 [GRCh38] Chr16:57286142 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.22A>G (p.Ser8Gly) |
single nucleotide variant |
not provided [RCV001916612] |
Chr16:57245389 [GRCh38] Chr16:57279301 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.6C>G (p.Asp2Glu) |
single nucleotide variant |
not provided [RCV001906968] |
Chr16:57245373 [GRCh38] Chr16:57279285 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.6C>A (p.Asp2Glu) |
single nucleotide variant |
not provided [RCV002019175] |
Chr16:57245373 [GRCh38] Chr16:57279285 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.137A>G (p.Asp46Gly) |
single nucleotide variant |
not provided [RCV002032234] |
Chr16:57248573 [GRCh38] Chr16:57282485 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.57A>G (p.Ala19=) |
single nucleotide variant |
not provided [RCV002190144] |
Chr16:57246098 [GRCh38] Chr16:57280010 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.312G>T (p.Val104=) |
single nucleotide variant |
Retinal dystrophy [RCV003889074]|not provided [RCV002126009] |
Chr16:57250429 [GRCh38] Chr16:57284341 [GRCh37] Chr16:16q13 |
benign|likely benign |
NM_012106.4(ARL2BP):c.38+12C>T |
single nucleotide variant |
not provided [RCV002190265] |
Chr16:57245417 [GRCh38] Chr16:57279329 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.405A>C (p.Arg135=) |
single nucleotide variant |
not provided [RCV002206516] |
Chr16:57252180 [GRCh38] Chr16:57286092 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.101-17del |
deletion |
not provided [RCV002149630] |
Chr16:57248517 [GRCh38] Chr16:57282429 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.294-15C>T |
single nucleotide variant |
not provided [RCV002134001] |
Chr16:57250396 [GRCh38] Chr16:57284308 [GRCh37] Chr16:16q13 |
likely benign |
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 |
copy number gain |
not provided [RCV002221458] |
Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
NM_012106.4(ARL2BP):c.480T>C (p.Asn160=) |
single nucleotide variant |
not provided [RCV002175340] |
Chr16:57252255 [GRCh38] Chr16:57286167 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.246G>A (p.Leu82=) |
single nucleotide variant |
not provided [RCV002198650] |
Chr16:57249805 [GRCh38] Chr16:57283717 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.294-9dup |
duplication |
not provided [RCV002156571] |
Chr16:57250400..57250401 [GRCh38] Chr16:57284312..57284313 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.294-9C>T |
single nucleotide variant |
not provided [RCV002182219] |
Chr16:57250402 [GRCh38] Chr16:57284314 [GRCh37] Chr16:16q13 |
likely benign |
NC_000016.9:g.(?_56226148)_(58768132_?)del |
deletion |
Bardet-Biedl syndrome [RCV003119976]|Early infantile epileptic encephalopathy with suppression bursts [RCV003109791] |
Chr16:56226148..58768132 [GRCh37] Chr16:16q12.2-21 |
pathogenic |
NC_000016.9:g.(?_57016057)_(58768132_?)del |
deletion |
not provided [RCV003122679] |
Chr16:57016057..58768132 [GRCh37] Chr16:16q13-21 |
pathogenic |
Single allele |
deletion |
not provided [RCV002266766] |
Chr16:53818483..57631312 [GRCh38] Chr16:16q12.2-21 |
pathogenic |
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 |
copy number gain |
not provided [RCV002472562] |
Chr16:46503573..62203182 [GRCh37] Chr16:16q11.2-21 |
pathogenic |
NM_012106.4(ARL2BP):c.80A>G (p.Tyr27Cys) |
single nucleotide variant |
not provided [RCV002295640] |
Chr16:57246121 [GRCh38] Chr16:57280033 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.207+15A>G |
single nucleotide variant |
not provided [RCV002614350] |
Chr16:57248658 [GRCh38] Chr16:57282570 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.166G>A (p.Glu56Lys) |
single nucleotide variant |
not provided [RCV002816562] |
Chr16:57248602 [GRCh38] Chr16:57282514 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.207+15A>C |
single nucleotide variant |
not provided [RCV003017078] |
Chr16:57248658 [GRCh38] Chr16:57282570 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.191del (p.Pro64fs) |
deletion |
not provided [RCV002614704] |
Chr16:57248626 [GRCh38] Chr16:57282538 [GRCh37] Chr16:16q13 |
pathogenic |
NM_012106.4(ARL2BP):c.85G>A (p.Glu29Lys) |
single nucleotide variant |
not provided [RCV002842629] |
Chr16:57246126 [GRCh38] Chr16:57280038 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.376T>C (p.Leu126=) |
single nucleotide variant |
not provided [RCV002695997] |
Chr16:57250493 [GRCh38] Chr16:57284405 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.442T>C (p.Leu148=) |
single nucleotide variant |
not provided [RCV003054418] |
Chr16:57252217 [GRCh38] Chr16:57286129 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.293+11C>T |
single nucleotide variant |
not provided [RCV002627238] |
Chr16:57249863 [GRCh38] Chr16:57283775 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.379G>T (p.Asp127Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002850104] |
Chr16:57250496 [GRCh38] Chr16:57284408 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.97_98dup (p.Met33fs) |
duplication |
not provided [RCV003024621] |
Chr16:57246137..57246138 [GRCh38] Chr16:57280049..57280050 [GRCh37] Chr16:16q13 |
pathogenic |
NM_012106.4(ARL2BP):c.391-17G>A |
single nucleotide variant |
not provided [RCV002573749] |
Chr16:57252149 [GRCh38] Chr16:57286061 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.38+3G>C |
single nucleotide variant |
not provided [RCV002914586] |
Chr16:57245408 [GRCh38] Chr16:57279320 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.45C>T (p.Ser15=) |
single nucleotide variant |
not provided [RCV002716504] |
Chr16:57246086 [GRCh38] Chr16:57279998 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.481C>A (p.Leu161Met) |
single nucleotide variant |
not provided [RCV002715307] |
Chr16:57252256 [GRCh38] Chr16:57286168 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.121C>A (p.Gln41Lys) |
single nucleotide variant |
not provided [RCV003046390] |
Chr16:57248557 [GRCh38] Chr16:57282469 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.27T>A (p.Phe9Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002809697] |
Chr16:57245394 [GRCh38] Chr16:57279306 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.207+5G>A |
single nucleotide variant |
not provided [RCV002671729] |
Chr16:57248648 [GRCh38] Chr16:57282560 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.294-9del |
deletion |
not provided [RCV003047863] |
Chr16:57250401 [GRCh38] Chr16:57284313 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.39-14G>T |
single nucleotide variant |
not provided [RCV002600881] |
Chr16:57246066 [GRCh38] Chr16:57279978 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.120A>T (p.Leu40Phe) |
single nucleotide variant |
not provided [RCV003070287] |
Chr16:57248556 [GRCh38] Chr16:57282468 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.331A>G (p.Met111Val) |
single nucleotide variant |
not provided [RCV002653644] |
Chr16:57250448 [GRCh38] Chr16:57284360 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.406G>A (p.Gly136Arg) |
single nucleotide variant |
not provided [RCV002586327] |
Chr16:57252181 [GRCh38] Chr16:57286093 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.33_36del (p.Phe13fs) |
deletion |
Retinitis pigmentosa [RCV003324685]|Retinitis pigmentosa with or without situs inversus [RCV004698584] |
Chr16:57245398..57245401 [GRCh38] Chr16:57279310..57279313 [GRCh37] Chr16:16q13 |
pathogenic |
NM_012106.4(ARL2BP):c.340A>C (p.Thr114Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003361807] |
Chr16:57250457 [GRCh38] Chr16:57284369 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.261G>A (p.Glu87=) |
single nucleotide variant |
Retinal dystrophy [RCV003889322]|not provided [RCV003693902] |
Chr16:57249820 [GRCh38] Chr16:57283732 [GRCh37] Chr16:16q13 |
likely benign|uncertain significance |
NM_012106.4(ARL2BP):c.207+19C>T |
single nucleotide variant |
not provided [RCV003660276] |
Chr16:57248662 [GRCh38] Chr16:57282574 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.207C>A (p.Tyr69Ter) |
single nucleotide variant |
not provided [RCV003580778] |
Chr16:57248643 [GRCh38] Chr16:57282555 [GRCh37] Chr16:16q13 |
pathogenic |
NM_012106.4(ARL2BP):c.38+20C>T |
single nucleotide variant |
not provided [RCV003721263] |
Chr16:57245425 [GRCh38] Chr16:57279337 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.235G>T (p.Glu79Ter) |
single nucleotide variant |
not provided [RCV003682902] |
Chr16:57249794 [GRCh38] Chr16:57283706 [GRCh37] Chr16:16q13 |
pathogenic |
GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1 |
copy number loss |
not specified [RCV003987196] |
Chr16:55329260..67180113 [GRCh37] Chr16:16q12.2-22.1 |
pathogenic |
NM_012106.4(ARL2BP):c.294-17A>G |
single nucleotide variant |
not provided [RCV003857062] |
Chr16:57250394 [GRCh38] Chr16:57284306 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.32T>C (p.Leu11Pro) |
single nucleotide variant |
Retinal dystrophy [RCV003889736] |
Chr16:57245399 [GRCh38] Chr16:57279311 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.37_38del (p.Phe13fs) |
deletion |
Retinal dystrophy [RCV003889737] |
Chr16:57245403..57245404 [GRCh38] Chr16:57279315..57279316 [GRCh37] Chr16:16q13 |
pathogenic |
NM_012106.4(ARL2BP):c.74T>A (p.Val25Asp) |
single nucleotide variant |
Retinal dystrophy [RCV003889739] |
Chr16:57246115 [GRCh38] Chr16:57280027 [GRCh37] Chr16:16q13 |
uncertain significance |
NC_000016.9:g.(?_56226148)_(57286179_?)del |
deletion |
not provided [RCV004582872] |
Chr16:56226148..57286179 [GRCh37] Chr16:16q12.2-13 |
pathogenic |
NM_012106.4(ARL2BP):c.294-1G>C |
single nucleotide variant |
Retinitis pigmentosa with or without situs inversus [RCV004698648] |
Chr16:57250410 [GRCh38] Chr16:57284322 [GRCh37] Chr16:16q13 |
pathogenic |
NC_000016.9:g.(?_48799549)_(70756330_?)dup |
duplication |
Chromosome 16q12 duplication syndrome [RCV004595820] |
Chr16:48799549..70756330 [GRCh37] Chr16:16q12.1-22.1 |
likely pathogenic |
NM_012106.4(ARL2BP):c.337C>T (p.Leu113Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004665629] |
Chr16:57250454 [GRCh38] Chr16:57284366 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.22_23del (p.Ser8fs) |
microsatellite |
Retinitis pigmentosa with or without situs inversus [RCV004698649] |
Chr16:57245384..57245385 [GRCh38] Chr16:57279296..57279297 [GRCh37] Chr16:16q13 |
pathogenic |
NM_012106.4(ARL2BP):c.39-10T>A |
single nucleotide variant |
not provided [RCV005083220] |
Chr16:57246070 [GRCh38] Chr16:57279982 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_012106.4(ARL2BP):c.208-11C>G |
single nucleotide variant |
not provided [RCV005177438] |
Chr16:57249756 [GRCh38] Chr16:57283668 [GRCh37] Chr16:16q13 |
likely benign |
NM_012106.4(ARL2BP):c.230T>C (p.Ile77Thr) |
single nucleotide variant |
Retinal dystrophy [RCV004814192] |
Chr16:57249789 [GRCh38] Chr16:57283701 [GRCh37] Chr16:16q13 |
uncertain significance |