NM_145200.3(CABP4):c.800_801delAG |
microsatellite |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000002029]|not provided [RCV001008803] |
Chr11:67458629..67458630 [GRCh38] Chr11:67226100..67226101 [GRCh37] Chr11:11q13.2 |
pathogenic|likely pathogenic |
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000002030]|not provided [RCV001049798] |
Chr11:67456191 [GRCh38] Chr11:67223662 [GRCh37] Chr11:11q13.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1 |
copy number loss |
See cases [RCV000052682] |
Chr11:66885910..67698250 [GRCh38] Chr11:66653381..67465721 [GRCh37] Chr11:66409957..67222297 [NCBI36] Chr11:11q13.2 |
pathogenic |
GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1 |
copy number loss |
See cases [RCV000052683] |
Chr11:67446153..68679073 [GRCh38] Chr11:67213624..68446541 [GRCh37] Chr11:66970200..68203117 [NCBI36] Chr11:11q13.2 |
pathogenic |
GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3 |
copy number gain |
See cases [RCV000053623] |
Chr11:66193502..67890770 [GRCh38] Chr11:65960973..67658241 [GRCh37] Chr11:65717549..67414817 [NCBI36] Chr11:11q13.2 |
pathogenic |
NM_145200.3(CABP4):c.23G>A (p.Gly8Glu) |
single nucleotide variant |
Malignant melanoma [RCV000069632] |
Chr11:67455446 [GRCh38] Chr11:67222917 [GRCh37] Chr11:66979493 [NCBI36] Chr11:11q13.2 |
not provided |
NM_206997.1(GPR152):c.900C>T (p.Ala300=) |
single nucleotide variant |
Malignant melanoma [RCV000069630] |
Chr11:67451825 [GRCh38] Chr11:67219296 [GRCh37] Chr11:66975872 [NCBI36] Chr11:11q13.2 |
not provided |
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) |
single nucleotide variant |
Achromatopsia [RCV000787800]|Cone-rod dystrophy [RCV000787550]|Cone-rod synaptic disorder, congenital nonprogressive [RCV000171132]|not provided [RCV000760417] |
Chr11:67457677 [GRCh38] Chr11:67225148 [GRCh37] Chr11:11q13.2 |
pathogenic|likely pathogenic |
NM_145200.5(CABP4):c.81_82insA (p.Pro28fs) |
insertion |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000171133]|not provided [RCV001557083] |
Chr11:67455504..67455505 [GRCh38] Chr11:67222975..67222976 [GRCh37] Chr11:11q13.2 |
pathogenic |
Single allele |
deletion |
Intellectual disability [RCV001293382] |
Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
NM_206997.1(GPR152):c.161C>T (p.Ala54Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003194458] |
Chr11:67452564 [GRCh38] Chr11:67220035 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.155G>A (p.Arg52Gln) |
single nucleotide variant |
not provided [RCV000173572] |
Chr11:67455578 [GRCh38] Chr11:67223049 [GRCh37] Chr11:11q13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_145200.5(CABP4):c.187G>A (p.Gly63Ser) |
single nucleotide variant |
not provided [RCV000173573] |
Chr11:67455610 [GRCh38] Chr11:67223081 [GRCh37] Chr11:11q13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_145200.5(CABP4):c.102G>A (p.Glu34=) |
single nucleotide variant |
not provided [RCV000173574] |
Chr11:67455525 [GRCh38] Chr11:67222996 [GRCh37] Chr11:11q13.2 |
uncertain significance |
GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1 |
copy number loss |
See cases [RCV000135609] |
Chr11:67217264..69448598 [GRCh38] Chr11:66984735..69263366 [GRCh37] Chr11:66741311..68972547 [NCBI36] Chr11:11q13.2-13.3 |
likely pathogenic |
GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1 |
copy number loss |
See cases [RCV000136875] |
Chr11:67397196..67644438 [GRCh38] Chr11:67164667..67411909 [GRCh37] Chr11:66921243..67168485 [NCBI36] Chr11:11q13.2 |
benign |
GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1 |
copy number loss |
See cases [RCV000142881] |
Chr11:65741431..67705669 [GRCh38] Chr11:65508902..67473140 [GRCh37] Chr11:65265478..67229716 [NCBI36] Chr11:11q13.1-13.2 |
pathogenic |
NM_145200.5(CABP4):c.192C>T (p.Pro64=) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000390643]|not provided [RCV001522394]|not specified [RCV000152892] |
Chr11:67455615 [GRCh38] Chr11:67223086 [GRCh37] Chr11:11q13.2 |
benign|likely benign |
NM_145200.5(CABP4):c.579G>A (p.Leu193=) |
single nucleotide variant |
not provided [RCV000178391] |
Chr11:67457610 [GRCh38] Chr11:67225081 [GRCh37] Chr11:11q13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_145200.5(CABP4):c.541+7_541+8delinsGC |
indel |
Congenital Stationary Night Blindness, Recessive [RCV000289465]|not provided [RCV001521848]|not specified [RCV000246900] |
Chr11:67456449..67456450 [GRCh38] Chr11:67223920..67223921 [GRCh37] Chr11:11q13.2 |
benign|uncertain significance |
NM_145200.5(CABP4):c.800-5C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000355251]|not provided [RCV001511794]|not specified [RCV000252054] |
Chr11:67458626 [GRCh38] Chr11:67226097 [GRCh37] Chr11:11q13.2 |
benign|likely benign |
GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3 |
copy number gain |
See cases [RCV000240374] |
Chr11:66024774..67430781 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.799+15C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000300366]|not provided [RCV002056231] |
Chr11:67458533 [GRCh38] Chr11:67226004 [GRCh37] Chr11:11q13.2 |
benign|likely benign|uncertain significance |
NM_145200.5(CABP4):c.*2327G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000321620] |
Chr11:67460986 [GRCh38] Chr11:67228457 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.522G>A (p.Ser174=) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000283757]|not provided [RCV001480866] |
Chr11:67456423 [GRCh38] Chr11:67223894 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.*2327del |
deletion |
Congenital Stationary Night Blindness, Recessive [RCV000285299] |
Chr11:67460985 [GRCh38] Chr11:67228456 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.398-8C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000268086]|not provided [RCV001490960] |
Chr11:67456291 [GRCh38] Chr11:67223762 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.*1435G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000304371] |
Chr11:67460094 [GRCh38] Chr11:67227565 [GRCh37] Chr11:11q13.2 |
benign|likely benign |
NM_145200.5(CABP4):c.*683A>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000288133] |
Chr11:67459342 [GRCh38] Chr11:67226813 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.651+15G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000349510]|not provided [RCV001479517] |
Chr11:67457697 [GRCh38] Chr11:67225168 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.*2679A>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000289386] |
Chr11:67461338 [GRCh38] Chr11:67228809 [GRCh37] Chr11:11q13.2 |
benign|uncertain significance |
NM_145200.5(CABP4):c.*394dup |
duplication |
Congenital Stationary Night Blindness, Recessive [RCV000272967] |
Chr11:67459039..67459040 [GRCh38] Chr11:67226510..67226511 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.455G>A (p.Arg152Gln) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000378321]|not provided [RCV001435827] |
Chr11:67456356 [GRCh38] Chr11:67223827 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.53G>A (p.Arg18His) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000309778]|not provided [RCV000951751] |
Chr11:67455476 [GRCh38] Chr11:67222947 [GRCh37] Chr11:11q13.2 |
benign|uncertain significance |
NM_145200.5(CABP4):c.281G>A (p.Arg94His) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000275386]|not provided [RCV001511113] |
Chr11:67455704 [GRCh38] Chr11:67223175 [GRCh37] Chr11:11q13.2 |
benign|uncertain significance |
NM_145200.5(CABP4):c.*1040C>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000292611] |
Chr11:67459699 [GRCh38] Chr11:67227170 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*681A>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000382545] |
Chr11:67459340 [GRCh38] Chr11:67226811 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1697A>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000405590] |
Chr11:67460356 [GRCh38] Chr11:67227827 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.*1390C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000406023] |
Chr11:67460049 [GRCh38] Chr11:67227520 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1223G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000408423] |
Chr11:67459882 [GRCh38] Chr11:67227353 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.318C>T (p.Asp106=) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000262340]|not provided [RCV001403717] |
Chr11:67455741 [GRCh38] Chr11:67223212 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.*1859CA[15] |
microsatellite |
Congenital Stationary Night Blindness, Recessive [RCV000278699] |
Chr11:67460516..67460517 [GRCh38] Chr11:67227987..67227988 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.*2195G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000315694] |
Chr11:67460854 [GRCh38] Chr11:67228325 [GRCh37] Chr11:11q13.2 |
benign|likely benign |
NM_145200.5(CABP4):c.*1117C>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000338204] |
Chr11:67459776 [GRCh38] Chr11:67227247 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.816C>T (p.Leu272=) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000260571]|not provided [RCV001514735] |
Chr11:67458647 [GRCh38] Chr11:67226118 [GRCh37] Chr11:11q13.2 |
benign|uncertain significance |
NM_145200.5(CABP4):c.*26C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000297002] |
Chr11:67458685 [GRCh38] Chr11:67226156 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1857T>C |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000318726] |
Chr11:67460516 [GRCh38] Chr11:67227987 [GRCh37] Chr11:11q13.2 |
benign|likely benign |
NM_145200.5(CABP4):c.*1285G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000279763] |
Chr11:67459944 [GRCh38] Chr11:67227415 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*120T>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000266569] |
Chr11:67458779 [GRCh38] Chr11:67226250 [GRCh37] Chr11:11q13.2 |
benign|uncertain significance |
NM_145200.5(CABP4):c.-27G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000393495] |
Chr11:67455397 [GRCh38] Chr11:67222868 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.541+8A>C |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000344495]|not provided [RCV001672457] |
Chr11:67456450 [GRCh38] Chr11:67223921 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.*1851TA[5] |
microsatellite |
Congenital Stationary Night Blindness, Recessive [RCV000269930] |
Chr11:67460509..67460510 [GRCh38] Chr11:67227980..67227981 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.432C>T (p.Asp144=) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000323189] |
Chr11:67456333 [GRCh38] Chr11:67223804 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.69G>A (p.Ala23=) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000346115]|not provided [RCV001430089] |
Chr11:67455492 [GRCh38] Chr11:67222963 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.*1858_*1859insTACACA |
insertion |
Congenital Stationary Night Blindness, Recessive [RCV000284556] |
Chr11:67460516..67460517 [GRCh38] Chr11:67227987..67227988 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2187G>C |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000260503] |
Chr11:67460846 [GRCh38] Chr11:67228317 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1857delinsCACACACAC |
indel |
Congenital Stationary Night Blindness, Recessive [RCV000282411] |
Chr11:67460516 [GRCh38] Chr11:67227987 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.242C>T (p.Ala81Val) |
single nucleotide variant |
Congenital Stationary Night Blindness, Recessive [RCV000370457]|not provided [RCV001034418] |
Chr11:67455665 [GRCh38] Chr11:67223136 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.367-8C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000372085]|not provided [RCV001475507] |
Chr11:67456180 [GRCh38] Chr11:67223651 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.*2709G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000351224] |
Chr11:67461368 [GRCh38] Chr11:67228839 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1851TA[6] |
microsatellite |
Congenital Stationary Night Blindness, Recessive [RCV000325101] |
Chr11:67460509..67460510 [GRCh38] Chr11:67227980..67227981 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*876G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000352321] |
Chr11:67459535 [GRCh38] Chr11:67227006 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.*1859CA[16] |
microsatellite |
Congenital Stationary Night Blindness, Recessive [RCV000343095] |
Chr11:67460516..67460517 [GRCh38] Chr11:67227987..67227988 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1859C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000309669] |
Chr11:67460518 [GRCh38] Chr11:67227989 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.*1859CA[14] |
microsatellite |
Congenital Stationary Night Blindness, Recessive [RCV000373303] |
Chr11:67460516..67460517 [GRCh38] Chr11:67227987..67227988 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.*2089T>C |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000275585] |
Chr11:67460748 [GRCh38] Chr11:67228219 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1856_*1857insCA |
insertion |
Congenital Stationary Night Blindness, Recessive [RCV000275922] |
Chr11:67460514..67460515 [GRCh38] Chr11:67227985..67227986 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.652-11G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000404388]|not provided [RCV002056230] |
Chr11:67458360 [GRCh38] Chr11:67225831 [GRCh37] Chr11:11q13.2 |
benign|likely benign|uncertain significance |
NM_145200.5(CABP4):c.309C>T (p.Ser103=) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000311838]|not provided [RCV001464404] |
Chr11:67455732 [GRCh38] Chr11:67223203 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.*1291A>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000334563] |
Chr11:67459950 [GRCh38] Chr11:67227421 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.315C>T (p.His105=) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000357360]|not provided [RCV001439450] |
Chr11:67455738 [GRCh38] Chr11:67223209 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.*2668G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000381451] |
Chr11:67461327 [GRCh38] Chr11:67228798 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1858_*1859insTACA |
insertion |
Congenital Stationary Night Blindness, Recessive [RCV000393905] |
Chr11:67460516..67460517 [GRCh38] Chr11:67227987..67227988 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*3043C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000407477] |
Chr11:67461702 [GRCh38] Chr11:67229173 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.531C>A (p.Ile177=) |
single nucleotide variant |
not provided [RCV000259229] |
Chr11:67456432 [GRCh38] Chr11:67223903 [GRCh37] Chr11:11q13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_145200.5(CABP4):c.547G>C (p.Gly183Arg) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000314284]|not provided [RCV000594667] |
Chr11:67457578 [GRCh38] Chr11:67225049 [GRCh37] Chr11:11q13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_145200.5(CABP4):c.*1527C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000359106] |
Chr11:67460186 [GRCh38] Chr11:67227657 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.541+7C>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000384075]|not provided [RCV001660603] |
Chr11:67456449 [GRCh38] Chr11:67223920 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.*119T>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000361219]|not provided [RCV001683236] |
Chr11:67458778 [GRCh38] Chr11:67226249 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.360C>T (p.Phe120=) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000625414]|not provided [RCV000878044]|not specified [RCV001699300] |
Chr11:67455783 [GRCh38] Chr11:67223254 [GRCh37] Chr11:11q13.2 |
benign|likely benign|uncertain significance |
NM_145200.5(CABP4):c.*963C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000388250] |
Chr11:67459622 [GRCh38] Chr11:67227093 [GRCh37] Chr11:11q13.2 |
benign|likely benign |
NM_145200.5(CABP4):c.72G>C (p.Gly24=) |
single nucleotide variant |
not provided [RCV000299446] |
Chr11:67455495 [GRCh38] Chr11:67222966 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2313del |
deletion |
Congenital Stationary Night Blindness, Recessive [RCV000379721] |
Chr11:67460972 [GRCh38] Chr11:67228443 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1856_*1857insCACA |
insertion |
Congenital Stationary Night Blindness, Recessive [RCV000331055] |
Chr11:67460514..67460515 [GRCh38] Chr11:67227985..67227986 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1939A>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000315517] |
Chr11:67460598 [GRCh38] Chr11:67228069 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1878_*1879insTA |
insertion |
Congenital Stationary Night Blindness, Recessive [RCV000364380] |
Chr11:67460536..67460537 [GRCh38] Chr11:67228007..67228008 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2583C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000347893] |
Chr11:67461242 [GRCh38] Chr11:67228713 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.524A>G (p.Gln175Arg) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000348206] |
Chr11:67456425 [GRCh38] Chr11:67223896 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1827C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000364429] |
Chr11:67460486 [GRCh38] Chr11:67227957 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.194A>G (p.Glu65Gly) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000306491] |
Chr11:67455617 [GRCh38] Chr11:67223088 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2098C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000319163] |
Chr11:67460757 [GRCh38] Chr11:67228228 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1857CA[3] |
microsatellite |
Congenital Stationary Night Blindness, Recessive [RCV000386153] |
Chr11:67460514..67460515 [GRCh38] Chr11:67227985..67227986 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.541+14C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000407555] |
Chr11:67456456 [GRCh38] Chr11:67223927 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*262C>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000321700] |
Chr11:67458921 [GRCh38] Chr11:67226392 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2065T>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000370164] |
Chr11:67460724 [GRCh38] Chr11:67228195 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1854_*1855insCACA |
insertion |
Congenital Stationary Night Blindness, Recessive [RCV000370395] |
Chr11:67460512..67460513 [GRCh38] Chr11:67227983..67227984 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1933C>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000390709] |
Chr11:67460592 [GRCh38] Chr11:67228063 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1813dup |
duplication |
Congenital Stationary Night Blindness, Recessive [RCV000309851] |
Chr11:67460465..67460466 [GRCh38] Chr11:67227936..67227937 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.*2176dup |
duplication |
Congenital Stationary Night Blindness, Recessive [RCV000355325] |
Chr11:67460826..67460827 [GRCh38] Chr11:67228297..67228298 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1859CA[11] |
microsatellite |
Congenital Stationary Night Blindness, Recessive [RCV000339992] |
Chr11:67460517..67460520 [GRCh38] Chr11:67227988..67227991 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1859_*1873delinsT |
indel |
Congenital Stationary Night Blindness, Recessive [RCV000393893] |
Chr11:67460518..67460532 [GRCh38] Chr11:67227989..67228003 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*324C>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000376410] |
Chr11:67458983 [GRCh38] Chr11:67226454 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2331A>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000376330] |
Chr11:67460990 [GRCh38] Chr11:67228461 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*669T>C |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000328030] |
Chr11:67459328 [GRCh38] Chr11:67226799 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2438G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000290648] |
Chr11:67461097 [GRCh38] Chr11:67228568 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.635G>A (p.Arg212His) |
single nucleotide variant |
not provided [RCV000592014] |
Chr11:67457666 [GRCh38] Chr11:67225137 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.800-18_*795del |
deletion |
Retinal dystrophy [RCV000505064] |
Chr11:67458613..67459454 [GRCh38] Chr11:67226084..67226925 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter) |
single nucleotide variant |
Cone dystrophy [RCV000504725]|Cone-rod synaptic disorder, congenital nonprogressive [RCV001253657]|Retinal dystrophy [RCV001074813]|not provided [RCV001385530] |
Chr11:67458392 [GRCh38] Chr11:67225863 [GRCh37] Chr11:11q13.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_145200.5(CABP4):c.775G>A (p.Gly259Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003258480] |
Chr11:67458494 [GRCh38] Chr11:67225965 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_206997.1(GPR152):c.266T>C (p.Leu89Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003286236] |
Chr11:67452459 [GRCh38] Chr11:67219930 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.392T>C (p.Leu131Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003281624] |
Chr11:67456213 [GRCh38] Chr11:67223684 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.508C>T (p.Leu170Phe) |
single nucleotide variant |
not provided [RCV000597995] |
Chr11:67456409 [GRCh38] Chr11:67223880 [GRCh37] Chr11:11q13.2 |
uncertain significance |
GRCh37/hg19 11q13.2(chr11:67161003-67349899)x1 |
copy number loss |
not provided [RCV000683315] |
Chr11:67161003..67349899 [GRCh37] Chr11:11q13.2 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_145200.5(CABP4):c.605C>T (p.Thr202Met) |
single nucleotide variant |
not provided [RCV000761786] |
Chr11:67457636 [GRCh38] Chr11:67225107 [GRCh37] Chr11:11q13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_145200.5(CABP4):c.598G>A (p.Glu200Lys) |
single nucleotide variant |
not provided [RCV001052783] |
Chr11:67457629 [GRCh38] Chr11:67225100 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_206997.1(GPR152):c.181G>A (p.Gly61Arg) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000988583] |
Chr11:67452544 [GRCh38] Chr11:67220015 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.773A>T (p.Asn258Ile) |
single nucleotide variant |
Achromatopsia [RCV000787906]|Cone-rod dystrophy [RCV000787552]|Ocular albinism, type II [RCV000787551] |
Chr11:67458492 [GRCh38] Chr11:67225963 [GRCh37] Chr11:11q13.2 |
likely pathogenic|uncertain significance |
NM_145200.5(CABP4):c.214A>C (p.Asn72His) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107118]|not provided [RCV001059561] |
Chr11:67455637 [GRCh38] Chr11:67223108 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.396C>T (p.Asp132=) |
single nucleotide variant |
not provided [RCV000877855] |
Chr11:67456217 [GRCh38] Chr11:67223688 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.50G>C (p.Gly17Ala) |
single nucleotide variant |
not provided [RCV000950907] |
Chr11:67455473 [GRCh38] Chr11:67222944 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.542-2A>C |
single nucleotide variant |
not provided [RCV001047812] |
Chr11:67457571 [GRCh38] Chr11:67225042 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_145200.5(CABP4):c.743T>C (p.Leu248Pro) |
single nucleotide variant |
not provided [RCV001069958] |
Chr11:67458462 [GRCh38] Chr11:67225933 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.464G>T (p.Gly155Val) |
single nucleotide variant |
not provided [RCV001070556] |
Chr11:67456365 [GRCh38] Chr11:67223836 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.281G>C (p.Arg94Pro) |
single nucleotide variant |
not provided [RCV001043051] |
Chr11:67455704 [GRCh38] Chr11:67223175 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs) |
indel |
Cone-rod synaptic disorder, congenital nonprogressive [RCV000786935] |
Chr11:67455484..67455485 [GRCh38] Chr11:67222955..67222956 [GRCh37] Chr11:11q13.2 |
pathogenic |
GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402) |
copy number gain |
not provided [RCV000767601] |
Chr11:65138976..67574402 [GRCh37] Chr11:11q13.1-13.2 |
pathogenic |
NM_145200.5(CABP4):c.717C>T (p.Leu239=) |
single nucleotide variant |
not provided [RCV000945850] |
Chr11:67458436 [GRCh38] Chr11:67225907 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.339G>T (p.Gly113=) |
single nucleotide variant |
not provided [RCV000895152] |
Chr11:67455762 [GRCh38] Chr11:67223233 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.787G>A (p.Val263Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003259006]|not provided [RCV000878150] |
Chr11:67458506 [GRCh38] Chr11:67225977 [GRCh37] Chr11:11q13.2 |
benign|uncertain significance |
NM_145200.5(CABP4):c.299G>A (p.Arg100His) |
single nucleotide variant |
not provided [RCV000949154] |
Chr11:67455722 [GRCh38] Chr11:67223193 [GRCh37] Chr11:11q13.2 |
benign |
GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3 |
copy number gain |
not provided [RCV001006414] |
Chr11:66820585..67979510 [GRCh37] Chr11:11q13.2 |
uncertain significance |
GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3 |
copy number gain |
not provided [RCV000847752] |
Chr11:67081259..67471729 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.757C>T (p.Arg253Ter) |
single nucleotide variant |
Cone-rod dystrophy [RCV002267750]|Retinal dystrophy [RCV001075323]|not provided [RCV001226380] |
Chr11:67458476 [GRCh38] Chr11:67225947 [GRCh37] Chr11:11q13.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_145200.5(CABP4):c.445A>G (p.Ile149Val) |
single nucleotide variant |
not provided [RCV001212487] |
Chr11:67456346 [GRCh38] Chr11:67223817 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.647G>A (p.Arg216Gln) |
single nucleotide variant |
not provided [RCV001209854] |
Chr11:67457678 [GRCh38] Chr11:67225149 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.269C>T (p.Pro90Leu) |
single nucleotide variant |
not provided [RCV001211175] |
Chr11:67455692 [GRCh38] Chr11:67223163 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.626G>T (p.Arg209Leu) |
single nucleotide variant |
Usher syndrome [RCV003389492]|not provided [RCV001248184] |
Chr11:67457657 [GRCh38] Chr11:67225128 [GRCh37] Chr11:11q13.2 |
likely pathogenic|uncertain significance |
NM_145200.5(CABP4):c.*2905G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107395] |
Chr11:67461564 [GRCh38] Chr11:67229035 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.686C>T (p.Ala229Val) |
single nucleotide variant |
not provided [RCV001247608] |
Chr11:67458405 [GRCh38] Chr11:67225876 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2357A>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001104646] |
Chr11:67461016 [GRCh38] Chr11:67228487 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2716T>C |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001104647] |
Chr11:67461375 [GRCh38] Chr11:67228846 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.611A>G (p.His204Arg) |
single nucleotide variant |
not provided [RCV001229902] |
Chr11:67457642 [GRCh38] Chr11:67225113 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NC_000011.9:g.(?_64973914)_(70052579_?)dup |
duplication |
Aicardi-Goutieres syndrome 3 [RCV003113322]|FADD-related immunodeficiency [RCV003107753] |
Chr11:64973914..70052579 [GRCh37] Chr11:11q13.1-13.3 |
uncertain significance |
NM_145200.5(CABP4):c.652-95AAATA[3] |
microsatellite |
not provided [RCV001725268] |
Chr11:67458276..67458280 [GRCh38] Chr11:67225747..67225751 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.619_633dup (p.Gly207_Leu211dup) |
duplication |
Congenital stationary night blindness [RCV001591907] |
Chr11:67457645..67457646 [GRCh38] Chr11:67225116..67225117 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.800-37C>T |
single nucleotide variant |
not provided [RCV001556106] |
Chr11:67458594 [GRCh38] Chr11:67226065 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.542-56C>T |
single nucleotide variant |
not provided [RCV001651910] |
Chr11:67457517 [GRCh38] Chr11:67224988 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.541+7_541+8del |
deletion |
not provided [RCV001611669] |
Chr11:67456449..67456450 [GRCh38] Chr11:67223920..67223921 [GRCh37] Chr11:11q13.2 |
benign |
NM_206997.1(GPR152):c.180T>A (p.His60Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003270200] |
Chr11:67452545 [GRCh38] Chr11:67220016 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.747C>T (p.Asp249=) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107218]|not provided [RCV000877803] |
Chr11:67458466 [GRCh38] Chr11:67225937 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.530T>A (p.Ile177Asn) |
single nucleotide variant |
not provided [RCV001235534] |
Chr11:67456431 [GRCh38] Chr11:67223902 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.270G>A (p.Pro90=) |
single nucleotide variant |
not provided [RCV001207771] |
Chr11:67455693 [GRCh38] Chr11:67223164 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.485G>A (p.Gly162Asp) |
single nucleotide variant |
not provided [RCV001201883] |
Chr11:67456386 [GRCh38] Chr11:67223857 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1662G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107304] |
Chr11:67460321 [GRCh38] Chr11:67227792 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1758G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107305] |
Chr11:67460417 [GRCh38] Chr11:67227888 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2836C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107391] |
Chr11:67461495 [GRCh38] Chr11:67228966 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.724C>T (p.Pro242Ser) |
single nucleotide variant |
not provided [RCV001208414] |
Chr11:67458443 [GRCh38] Chr11:67225914 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.230G>C (p.Gly77Ala) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107786]|Inborn genetic diseases [RCV002558081]|not provided [RCV001243884] |
Chr11:67455653 [GRCh38] Chr11:67223124 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.246C>A (p.Gly82=) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107787]|not provided [RCV002069761] |
Chr11:67455669 [GRCh38] Chr11:67223140 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.333A>G (p.Thr111=) |
single nucleotide variant |
not provided [RCV001223481] |
Chr11:67455756 [GRCh38] Chr11:67223227 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.415G>A (p.Glu139Lys) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001104151]|not provided [RCV001873500] |
Chr11:67456316 [GRCh38] Chr11:67223787 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1413C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001104550] |
Chr11:67460072 [GRCh38] Chr11:67227543 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.542-17_542-2delinsGCCCACCATT |
indel |
not provided [RCV001241871] |
Chr11:67457556..67457571 [GRCh38] Chr11:67225027..67225042 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_145200.5(CABP4):c.799G>A (p.Glu267Lys) |
single nucleotide variant |
not provided [RCV002771020] |
Chr11:67458518 [GRCh38] Chr11:67225989 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_001300896.3(CABP4):c.-112-575A>C |
single nucleotide variant |
not provided [RCV001659309] |
Chr11:67455134 [GRCh38] Chr11:67222605 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.651+151A>C |
single nucleotide variant |
not provided [RCV001638196] |
Chr11:67457833 [GRCh38] Chr11:67225304 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.*1158A>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001102630] |
Chr11:67459817 [GRCh38] Chr11:67227288 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1392T>C |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001104548] |
Chr11:67460051 [GRCh38] Chr11:67227522 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.*394T>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107861] |
Chr11:67459053 [GRCh38] Chr11:67226524 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*408C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107862] |
Chr11:67459067 [GRCh38] Chr11:67226538 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1873C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107959] |
Chr11:67460532 [GRCh38] Chr11:67228003 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1190T>C |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001104547] |
Chr11:67459849 [GRCh38] Chr11:67227320 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.397G>A (p.Glu133Lys) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001104150] |
Chr11:67456218 [GRCh38] Chr11:67223689 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.10G>C (p.Glu4Gln) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107117]|Inborn genetic diseases [RCV002558072]|not provided [RCV001498363] |
Chr11:67455433 [GRCh38] Chr11:67222904 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.*2061C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001102726] |
Chr11:67460720 [GRCh38] Chr11:67228191 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2186C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001102727] |
Chr11:67460845 [GRCh38] Chr11:67228316 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.*1510T>C |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107302] |
Chr11:67460169 [GRCh38] Chr11:67227640 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2886T>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107393] |
Chr11:67461545 [GRCh38] Chr11:67229016 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2896T>C |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107394] |
Chr11:67461555 [GRCh38] Chr11:67229026 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*295G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107860] |
Chr11:67458954 [GRCh38] Chr11:67226425 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2000A>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107961] |
Chr11:67460659 [GRCh38] Chr11:67228130 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2004G>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107962] |
Chr11:67460663 [GRCh38] Chr11:67228134 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.228T>G (p.Thr76=) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107119]|not provided [RCV001481022] |
Chr11:67455651 [GRCh38] Chr11:67223122 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.457dup (p.Glu153fs) |
duplication |
not provided [RCV001092904] |
Chr11:67456355..67456356 [GRCh38] Chr11:67223826..67223827 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_145200.5(CABP4):c.*1063G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001102629] |
Chr11:67459722 [GRCh38] Chr11:67227193 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.799+7C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107219] |
Chr11:67458525 [GRCh38] Chr11:67225996 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*62A>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107220] |
Chr11:67458721 [GRCh38] Chr11:67226192 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1636A>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107303] |
Chr11:67460295 [GRCh38] Chr11:67227766 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2860A>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107392] |
Chr11:67461519 [GRCh38] Chr11:67228990 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.542-205G>C |
single nucleotide variant |
not provided [RCV001694032] |
Chr11:67457368 [GRCh38] Chr11:67224839 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.239C>T (p.Pro80Leu) |
single nucleotide variant |
not provided [RCV001248753] |
Chr11:67455662 [GRCh38] Chr11:67223133 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.476G>A (p.Arg159Gln) |
single nucleotide variant |
not provided [RCV001234282] |
Chr11:67456377 [GRCh38] Chr11:67223848 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.256G>A (p.Ala86Thr) |
single nucleotide variant |
not provided [RCV001042631] |
Chr11:67455679 [GRCh38] Chr11:67223150 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.680C>T (p.Thr227Met) |
single nucleotide variant |
not provided [RCV001044750] |
Chr11:67458399 [GRCh38] Chr11:67225870 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.815T>G (p.Leu272Arg) |
single nucleotide variant |
not provided [RCV001204882] |
Chr11:67458646 [GRCh38] Chr11:67226117 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.433C>T (p.Arg145Cys) |
single nucleotide variant |
not provided [RCV001234411] |
Chr11:67456334 [GRCh38] Chr11:67223805 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1402G>A |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001104549] |
Chr11:67460061 [GRCh38] Chr11:67227532 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.296A>T (p.His99Leu) |
single nucleotide variant |
not provided [RCV001208017] |
Chr11:67455719 [GRCh38] Chr11:67223190 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.615G>A (p.Met205Ile) |
single nucleotide variant |
not provided [RCV001208188] |
Chr11:67457646 [GRCh38] Chr11:67225117 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*702C>T |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001102628] |
Chr11:67459361 [GRCh38] Chr11:67226832 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*2958T>C |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107396] |
Chr11:67461617 [GRCh38] Chr11:67229088 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.65del (p.Pro22fs) |
deletion |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001593253]|Retinal dystrophy [RCV001073774] |
Chr11:67455484 [GRCh38] Chr11:67222955 [GRCh37] Chr11:11q13.2 |
pathogenic|likely pathogenic |
NM_145200.5(CABP4):c.674G>A (p.Arg225Gln) |
single nucleotide variant |
not provided [RCV001038298] |
Chr11:67458393 [GRCh38] Chr11:67225864 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.431A>T (p.Asp144Val) |
single nucleotide variant |
not provided [RCV001248183] |
Chr11:67456332 [GRCh38] Chr11:67223803 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.*1957A>G |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001107960] |
Chr11:67460616 [GRCh38] Chr11:67228087 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.280C>T (p.Arg94Cys) |
single nucleotide variant |
not provided [RCV001038831] |
Chr11:67455703 [GRCh38] Chr11:67223174 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.652-2A>G |
single nucleotide variant |
not provided [RCV001040089] |
Chr11:67458369 [GRCh38] Chr11:67225840 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_145200.5(CABP4):c.539G>A (p.Arg180His) |
single nucleotide variant |
Inborn genetic diseases [RCV002551469]|not provided [RCV001040257] |
Chr11:67456440 [GRCh38] Chr11:67223911 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.651+246T>G |
single nucleotide variant |
not provided [RCV001572198] |
Chr11:67457928 [GRCh38] Chr11:67225399 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.337G>A (p.Gly113Arg) |
single nucleotide variant |
not provided [RCV002001953] |
Chr11:67455760 [GRCh38] Chr11:67223231 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.52C>T (p.Arg18Cys) |
single nucleotide variant |
not provided [RCV001316393] |
Chr11:67455475 [GRCh38] Chr11:67222946 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.550C>T (p.Arg184Cys) |
single nucleotide variant |
not provided [RCV001317205] |
Chr11:67457581 [GRCh38] Chr11:67225052 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.499G>A (p.Glu167Lys) |
single nucleotide variant |
not provided [RCV001317204] |
Chr11:67456400 [GRCh38] Chr11:67223871 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.326A>G (p.Gln109Arg) |
single nucleotide variant |
not provided [RCV001312512] |
Chr11:67455749 [GRCh38] Chr11:67223220 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.820C>G (p.Arg274Gly) |
single nucleotide variant |
not provided [RCV001304160] |
Chr11:67458651 [GRCh38] Chr11:67226122 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.46A>G (p.Ile16Val) |
single nucleotide variant |
not provided [RCV001307149] |
Chr11:67455469 [GRCh38] Chr11:67222940 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.542-8G>C |
single nucleotide variant |
not provided [RCV001432973] |
Chr11:67457565 [GRCh38] Chr11:67225036 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.108G>A (p.Pro36=) |
single nucleotide variant |
not provided [RCV001433591] |
Chr11:67455531 [GRCh38] Chr11:67223002 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.200C>T (p.Pro67Leu) |
single nucleotide variant |
not provided [RCV001352430] |
Chr11:67455623 [GRCh38] Chr11:67223094 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NC_000011.9:g.(?_59596957)_(68707199_?)dup |
duplication |
Familial temporal lobe epilepsy 8 [RCV001372442] |
Chr11:59596957..68707199 [GRCh37] Chr11:11q12.1-13.3 |
uncertain significance |
NM_145200.5(CABP4):c.193G>A (p.Glu65Lys) |
single nucleotide variant |
not provided [RCV001369257] |
Chr11:67455616 [GRCh38] Chr11:67223087 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.137G>C (p.Arg46Thr) |
single nucleotide variant |
not provided [RCV001373786] |
Chr11:67455560 [GRCh38] Chr11:67223031 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.177G>T (p.Gly59=) |
single nucleotide variant |
not provided [RCV001361028] |
Chr11:67455600 [GRCh38] Chr11:67223071 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.68C>G (p.Ala23Gly) |
single nucleotide variant |
not provided [RCV001360387] |
Chr11:67455491 [GRCh38] Chr11:67222962 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.619G>T (p.Gly207Trp) |
single nucleotide variant |
not provided [RCV001324186] |
Chr11:67457650 [GRCh38] Chr11:67225121 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.233A>T (p.Glu78Val) |
single nucleotide variant |
not provided [RCV001302037] |
Chr11:67455656 [GRCh38] Chr11:67223127 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.622G>A (p.Val208Met) |
single nucleotide variant |
not provided [RCV001345259] |
Chr11:67457653 [GRCh38] Chr11:67225124 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.565G>A (p.Glu189Lys) |
single nucleotide variant |
not provided [RCV001342860] |
Chr11:67457596 [GRCh38] Chr11:67225067 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.608C>T (p.Ala203Val) |
single nucleotide variant |
not provided [RCV001363765] |
Chr11:67457639 [GRCh38] Chr11:67225110 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.820C>T (p.Arg274Cys) |
single nucleotide variant |
not provided [RCV001368265] |
Chr11:67458651 [GRCh38] Chr11:67226122 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.651+5G>A |
single nucleotide variant |
not provided [RCV001298729] |
Chr11:67457687 [GRCh38] Chr11:67225158 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.799+16G>A |
single nucleotide variant |
not provided [RCV001344593] |
Chr11:67458534 [GRCh38] Chr11:67226005 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.731C>T (p.Ala244Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002543607]|not provided [RCV001312638] |
Chr11:67458450 [GRCh38] Chr11:67225921 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.652-10G>A |
single nucleotide variant |
not provided [RCV001369835] |
Chr11:67458361 [GRCh38] Chr11:67225832 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.692T>C (p.Leu231Pro) |
single nucleotide variant |
not provided [RCV001304647] |
Chr11:67458411 [GRCh38] Chr11:67225882 [GRCh37] Chr11:11q13.2 |
pathogenic|uncertain significance |
NM_145200.5(CABP4):c.372C>T (p.Arg124=) |
single nucleotide variant |
not provided [RCV001487644] |
Chr11:67456193 [GRCh38] Chr11:67223664 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.336C>T (p.Tyr112=) |
single nucleotide variant |
not provided [RCV001441735] |
Chr11:67455759 [GRCh38] Chr11:67223230 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.391C>T (p.Leu131=) |
single nucleotide variant |
not provided [RCV001485126] |
Chr11:67456212 [GRCh38] Chr11:67223683 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.154C>T (p.Arg52Ter) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001542588]|not provided [RCV001381358] |
Chr11:67455577 [GRCh38] Chr11:67223048 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_145200.5(CABP4):c.438C>T (p.Asp146=) |
single nucleotide variant |
not provided [RCV001490102] |
Chr11:67456339 [GRCh38] Chr11:67223810 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.246C>T (p.Gly82=) |
single nucleotide variant |
not provided [RCV001446373] |
Chr11:67455669 [GRCh38] Chr11:67223140 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.367-6C>T |
single nucleotide variant |
not provided [RCV001394427] |
Chr11:67456182 [GRCh38] Chr11:67223653 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.542-7T>C |
single nucleotide variant |
not provided [RCV001407753] |
Chr11:67457566 [GRCh38] Chr11:67225037 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.718G>A (p.Gly240Arg) |
single nucleotide variant |
not provided [RCV001407832] |
Chr11:67458437 [GRCh38] Chr11:67225908 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.292C>T (p.Arg98Ter) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV001542589]|not provided [RCV002032536] |
Chr11:67455715 [GRCh38] Chr11:67223186 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_145200.5(CABP4):c.370del (p.Arg124fs) |
deletion |
not provided [RCV001388820] |
Chr11:67456190 [GRCh38] Chr11:67223661 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_145200.5(CABP4):c.739G>T (p.Glu247Ter) |
single nucleotide variant |
not provided [RCV001390934] |
Chr11:67458458 [GRCh38] Chr11:67225929 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_145200.5(CABP4):c.42G>C (p.Leu14=) |
single nucleotide variant |
not provided [RCV001401530] |
Chr11:67455465 [GRCh38] Chr11:67222936 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.498C>T (p.Thr166=) |
single nucleotide variant |
not provided [RCV001457834] |
Chr11:67456399 [GRCh38] Chr11:67223870 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.542-4G>C |
single nucleotide variant |
not provided [RCV001468632] |
Chr11:67457569 [GRCh38] Chr11:67225040 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.606G>A (p.Thr202=) |
single nucleotide variant |
not provided [RCV001495884] |
Chr11:67457637 [GRCh38] Chr11:67225108 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.109T>C (p.Leu37=) |
single nucleotide variant |
not provided [RCV001455074] |
Chr11:67455532 [GRCh38] Chr11:67223003 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.378G>A (p.Leu126=) |
single nucleotide variant |
not provided [RCV001521117] |
Chr11:67456199 [GRCh38] Chr11:67223670 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.541+88C>G |
single nucleotide variant |
not provided [RCV001681200] |
Chr11:67456530 [GRCh38] Chr11:67224001 [GRCh37] Chr11:11q13.2 |
benign |
NM_145200.5(CABP4):c.408C>T (p.Ala136=) |
single nucleotide variant |
not provided [RCV001429470] |
Chr11:67456309 [GRCh38] Chr11:67223780 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.541+7_541+8delinsGT |
indel |
not provided [RCV001438593] |
Chr11:67456449..67456450 [GRCh38] Chr11:67223920..67223921 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.597G>A (p.Arg199=) |
single nucleotide variant |
not provided [RCV001504125] |
Chr11:67457628 [GRCh38] Chr11:67225099 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.639C>T (p.Ile213=) |
single nucleotide variant |
not provided [RCV001418831] |
Chr11:67457670 [GRCh38] Chr11:67225141 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.439G>A (p.Gly147Ser) |
single nucleotide variant |
not provided [RCV001971386] |
Chr11:67456340 [GRCh38] Chr11:67223811 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.725C>T (p.Pro242Leu) |
single nucleotide variant |
not provided [RCV001947850] |
Chr11:67458444 [GRCh38] Chr11:67225915 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.47T>C (p.Ile16Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002548928]|not provided [RCV002024388] |
Chr11:67455470 [GRCh38] Chr11:67222941 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.651+5G>C |
single nucleotide variant |
not provided [RCV001971481] |
Chr11:67457687 [GRCh38] Chr11:67225158 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.146G>A (p.Arg49Gln) |
single nucleotide variant |
not provided [RCV001984245] |
Chr11:67455569 [GRCh38] Chr11:67223040 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.578T>C (p.Leu193Pro) |
single nucleotide variant |
not provided [RCV001988773] |
Chr11:67457609 [GRCh38] Chr11:67225080 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.526C>G (p.His176Asp) |
single nucleotide variant |
not provided [RCV001966139] |
Chr11:67456427 [GRCh38] Chr11:67223898 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.143T>A (p.Leu48His) |
single nucleotide variant |
not provided [RCV001889826] |
Chr11:67455566 [GRCh38] Chr11:67223037 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.491T>A (p.Met164Lys) |
single nucleotide variant |
not provided [RCV001891828] |
Chr11:67456392 [GRCh38] Chr11:67223863 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.4A>G (p.Thr2Ala) |
single nucleotide variant |
not provided [RCV001891109] |
Chr11:67455427 [GRCh38] Chr11:67222898 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.436G>A (p.Asp146Asn) |
single nucleotide variant |
not provided [RCV001893236] |
Chr11:67456337 [GRCh38] Chr11:67223808 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.758G>A (p.Arg253Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003167405]|not provided [RCV001948798] |
Chr11:67458477 [GRCh38] Chr11:67225948 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.74T>C (p.Val25Ala) |
single nucleotide variant |
not provided [RCV001987587] |
Chr11:67455497 [GRCh38] Chr11:67222968 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.409G>A (p.Ala137Thr) |
single nucleotide variant |
not provided [RCV001970244] |
Chr11:67456310 [GRCh38] Chr11:67223781 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.538C>T (p.Arg180Cys) |
single nucleotide variant |
not provided [RCV001892909] |
Chr11:67456439 [GRCh38] Chr11:67223910 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.478A>G (p.Thr160Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002548748]|not provided [RCV002043242] |
Chr11:67456379 [GRCh38] Chr11:67223850 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.377T>A (p.Leu126Gln) |
single nucleotide variant |
not provided [RCV001911580] |
Chr11:67456198 [GRCh38] Chr11:67223669 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.260C>T (p.Ser87Phe) |
single nucleotide variant |
not provided [RCV002001833] |
Chr11:67455683 [GRCh38] Chr11:67223154 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.64C>G (p.Pro22Ala) |
single nucleotide variant |
not provided [RCV001964822] |
Chr11:67455487 [GRCh38] Chr11:67222958 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.475C>T (p.Arg159Trp) |
single nucleotide variant |
not provided [RCV001887651] |
Chr11:67456376 [GRCh38] Chr11:67223847 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.322G>A (p.Ala108Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003365547]|not provided [RCV001943076] |
Chr11:67455745 [GRCh38] Chr11:67223216 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.625C>T (p.Arg209Ter) |
single nucleotide variant |
Cone-rod synaptic disorder, congenital nonprogressive [RCV003387538]|not provided [RCV002037790] |
Chr11:67457656 [GRCh38] Chr11:67225127 [GRCh37] Chr11:11q13.2 |
pathogenic|likely pathogenic |
NM_145200.5(CABP4):c.397+2T>A |
single nucleotide variant |
not provided [RCV001942106] |
Chr11:67456220 [GRCh38] Chr11:67223691 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_145200.5(CABP4):c.707C>T (p.Pro236Leu) |
single nucleotide variant |
not provided [RCV001976675] |
Chr11:67458426 [GRCh38] Chr11:67225897 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.107C>G (p.Pro36Arg) |
single nucleotide variant |
not provided [RCV001957539] |
Chr11:67455530 [GRCh38] Chr11:67223001 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.530T>C (p.Ile177Thr) |
single nucleotide variant |
not provided [RCV001960870] |
Chr11:67456431 [GRCh38] Chr11:67223902 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.66dup (p.Ala23fs) |
duplication |
not provided [RCV001924721] |
Chr11:67455488..67455489 [GRCh38] Chr11:67222959..67222960 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_145200.5(CABP4):c.260C>G (p.Ser87Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002569219]|not provided [RCV001963500] |
Chr11:67455683 [GRCh38] Chr11:67223154 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.113C>T (p.Thr38Ile) |
single nucleotide variant |
not provided [RCV001897147] |
Chr11:67455536 [GRCh38] Chr11:67223007 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.695G>A (p.Arg232Gln) |
single nucleotide variant |
not provided [RCV001977385] |
Chr11:67458414 [GRCh38] Chr11:67225885 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.464G>A (p.Gly155Asp) |
single nucleotide variant |
not provided [RCV002050145] |
Chr11:67456365 [GRCh38] Chr11:67223836 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.545G>A (p.Gly182Asp) |
single nucleotide variant |
not provided [RCV001934919] |
Chr11:67457576 [GRCh38] Chr11:67225047 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.340C>A (p.Pro114Thr) |
single nucleotide variant |
not provided [RCV002026876] |
Chr11:67455763 [GRCh38] Chr11:67223234 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.361G>C (p.Gly121Arg) |
single nucleotide variant |
not provided [RCV002027076] |
Chr11:67455784 [GRCh38] Chr11:67223255 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.551G>A (p.Arg184His) |
single nucleotide variant |
not provided [RCV001935403] |
Chr11:67457582 [GRCh38] Chr11:67225053 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.247G>A (p.Ala83Thr) |
single nucleotide variant |
not provided [RCV002030070] |
Chr11:67455670 [GRCh38] Chr11:67223141 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.471C>T (p.Cys157=) |
single nucleotide variant |
not provided [RCV001930500] |
Chr11:67456372 [GRCh38] Chr11:67223843 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.434G>A (p.Arg145His) |
single nucleotide variant |
not provided [RCV001977779] |
Chr11:67456335 [GRCh38] Chr11:67223806 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.352C>A (p.Arg118=) |
single nucleotide variant |
not provided [RCV001918824] |
Chr11:67455775 [GRCh38] Chr11:67223246 [GRCh37] Chr11:11q13.2 |
likely benign|uncertain significance |
NM_145200.5(CABP4):c.701C>T (p.Ala234Val) |
single nucleotide variant |
not provided [RCV001936884] |
Chr11:67458420 [GRCh38] Chr11:67225891 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.728T>G (p.Leu243Arg) |
single nucleotide variant |
not provided [RCV001981676] |
Chr11:67458447 [GRCh38] Chr11:67225918 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.259T>A (p.Ser87Thr) |
single nucleotide variant |
not provided [RCV001881178] |
Chr11:67455682 [GRCh38] Chr11:67223153 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.361G>A (p.Gly121Arg) |
single nucleotide variant |
not provided [RCV001906872] |
Chr11:67455784 [GRCh38] Chr11:67223255 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.247G>C (p.Ala83Pro) |
single nucleotide variant |
not provided [RCV001940817] |
Chr11:67455670 [GRCh38] Chr11:67223141 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.366+1G>T |
single nucleotide variant |
not provided [RCV002029750] |
Chr11:67455790 [GRCh38] Chr11:67223261 [GRCh37] Chr11:11q13.2 |
pathogenic|likely pathogenic |
NM_145200.5(CABP4):c.371G>A (p.Arg124His) |
single nucleotide variant |
not provided [RCV001998376] |
Chr11:67456192 [GRCh38] Chr11:67223663 [GRCh37] Chr11:11q13.2 |
likely pathogenic |
NM_145200.5(CABP4):c.554T>C (p.Val185Ala) |
single nucleotide variant |
not provided [RCV002017264] |
Chr11:67457585 [GRCh38] Chr11:67225056 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.349A>G (p.Asn117Asp) |
single nucleotide variant |
not provided [RCV001897007] |
Chr11:67455772 [GRCh38] Chr11:67223243 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.15G>T (p.Gln5His) |
single nucleotide variant |
not provided [RCV001940458] |
Chr11:67455438 [GRCh38] Chr11:67222909 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.250C>A (p.Pro84Thr) |
single nucleotide variant |
not provided [RCV001957052] |
Chr11:67455673 [GRCh38] Chr11:67223144 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.630G>A (p.Glu210=) |
single nucleotide variant |
not provided [RCV001996139] |
Chr11:67457661 [GRCh38] Chr11:67225132 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.293G>A (p.Arg98Gln) |
single nucleotide variant |
not provided [RCV002016827] |
Chr11:67455716 [GRCh38] Chr11:67223187 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.685G>A (p.Ala229Thr) |
single nucleotide variant |
not provided [RCV001976287] |
Chr11:67458404 [GRCh38] Chr11:67225875 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.65C>T (p.Pro22Leu) |
single nucleotide variant |
not provided [RCV002046567] |
Chr11:67455488 [GRCh38] Chr11:67222959 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.385G>A (p.Glu129Lys) |
single nucleotide variant |
not provided [RCV001905103] |
Chr11:67456206 [GRCh38] Chr11:67223677 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.541+1G>T |
single nucleotide variant |
not provided [RCV001939614] |
Chr11:67456443 [GRCh38] Chr11:67223914 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_145200.5(CABP4):c.674G>C (p.Arg225Pro) |
single nucleotide variant |
not provided [RCV001916938] |
Chr11:67458393 [GRCh38] Chr11:67225864 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.651+4C>T |
single nucleotide variant |
not provided [RCV001902022] |
Chr11:67457686 [GRCh38] Chr11:67225157 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.551G>T (p.Arg184Leu) |
single nucleotide variant |
not provided [RCV002026605] |
Chr11:67457582 [GRCh38] Chr11:67225053 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.585C>A (p.Gly195=) |
single nucleotide variant |
not provided [RCV002075784] |
Chr11:67457616 [GRCh38] Chr11:67225087 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.192C>G (p.Pro64=) |
single nucleotide variant |
not provided [RCV002086856] |
Chr11:67455615 [GRCh38] Chr11:67223086 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.373G>A (p.Glu125Lys) |
single nucleotide variant |
not provided [RCV002211192] |
Chr11:67456194 [GRCh38] Chr11:67223665 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.726G>A (p.Pro242=) |
single nucleotide variant |
not provided [RCV002206795] |
Chr11:67458445 [GRCh38] Chr11:67225916 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.367-14C>A |
single nucleotide variant |
not provided [RCV002108127] |
Chr11:67456174 [GRCh38] Chr11:67223645 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.207C>T (p.Ser69=) |
single nucleotide variant |
not provided [RCV002126170] |
Chr11:67455630 [GRCh38] Chr11:67223101 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.24G>A (p.Gly8=) |
single nucleotide variant |
not provided [RCV002206807] |
Chr11:67455447 [GRCh38] Chr11:67222918 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.397+12T>C |
single nucleotide variant |
not provided [RCV002128961] |
Chr11:67456230 [GRCh38] Chr11:67223701 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.414C>T (p.Phe138=) |
single nucleotide variant |
not provided [RCV002212012] |
Chr11:67456315 [GRCh38] Chr11:67223786 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.201G>A (p.Pro67=) |
single nucleotide variant |
not provided [RCV002149383] |
Chr11:67455624 [GRCh38] Chr11:67223095 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.651+10G>A |
single nucleotide variant |
not provided [RCV002114274] |
Chr11:67457692 [GRCh38] Chr11:67225163 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.367-16G>A |
single nucleotide variant |
not provided [RCV002172913] |
Chr11:67456172 [GRCh38] Chr11:67223643 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.243G>A (p.Ala81=) |
single nucleotide variant |
not provided [RCV002095200] |
Chr11:67455666 [GRCh38] Chr11:67223137 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.264T>C (p.Pro88=) |
single nucleotide variant |
not provided [RCV002080522] |
Chr11:67455687 [GRCh38] Chr11:67223158 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.681G>T (p.Thr227=) |
single nucleotide variant |
not provided [RCV002194308] |
Chr11:67458400 [GRCh38] Chr11:67225871 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.708G>C (p.Pro236=) |
single nucleotide variant |
not provided [RCV002080654] |
Chr11:67458427 [GRCh38] Chr11:67225898 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.68C>T (p.Ala23Val) |
single nucleotide variant |
not provided [RCV002211525] |
Chr11:67455491 [GRCh38] Chr11:67222962 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.399G>A (p.Glu133=) |
single nucleotide variant |
not provided [RCV002170198] |
Chr11:67456300 [GRCh38] Chr11:67223771 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.541+20C>T |
single nucleotide variant |
not provided [RCV002139435] |
Chr11:67456462 [GRCh38] Chr11:67223933 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.702G>A (p.Ala234=) |
single nucleotide variant |
not provided [RCV002139189] |
Chr11:67458421 [GRCh38] Chr11:67225892 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.216C>T (p.Asn72=) |
single nucleotide variant |
not provided [RCV002199507] |
Chr11:67455639 [GRCh38] Chr11:67223110 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.546C>T (p.Gly182=) |
single nucleotide variant |
not provided [RCV002181908] |
Chr11:67457577 [GRCh38] Chr11:67225048 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.388G>A (p.Glu130Lys) |
single nucleotide variant |
not provided [RCV002275887] |
Chr11:67456209 [GRCh38] Chr11:67223680 [GRCh37] Chr11:11q13.2 |
uncertain significance |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 |
copy number gain |
MISSED ABORTION [RCV002282973] |
Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
NM_145200.5(CABP4):c.493C>G (p.Pro165Ala) |
single nucleotide variant |
not provided [RCV002295810] |
Chr11:67456394 [GRCh38] Chr11:67223865 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.668A>G (p.Asp223Gly) |
single nucleotide variant |
not provided [RCV002299068] |
Chr11:67458387 [GRCh38] Chr11:67225858 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.319G>A (p.Ala107Thr) |
single nucleotide variant |
not provided [RCV003074411] |
Chr11:67455742 [GRCh38] Chr11:67223213 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.145C>T (p.Arg49Ter) |
single nucleotide variant |
not provided [RCV003074951] |
Chr11:67455568 [GRCh38] Chr11:67223039 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_145200.5(CABP4):c.339dup (p.Pro114fs) |
duplication |
not provided [RCV002837933] |
Chr11:67455759..67455760 [GRCh38] Chr11:67223230..67223231 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_145200.5(CABP4):c.73G>A (p.Val25Ile) |
single nucleotide variant |
not provided [RCV002842638] |
Chr11:67455496 [GRCh38] Chr11:67222967 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_206997.1(GPR152):c.57G>C (p.Glu19Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002778949] |
Chr11:67452668 [GRCh38] Chr11:67220139 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.220C>A (p.Pro74Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002865672] |
Chr11:67455643 [GRCh38] Chr11:67223114 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.154C>G (p.Arg52Gly) |
single nucleotide variant |
not provided [RCV002794830] |
Chr11:67455577 [GRCh38] Chr11:67223048 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.798C>T (p.Asp266=) |
single nucleotide variant |
not provided [RCV002640603] |
Chr11:67458517 [GRCh38] Chr11:67225988 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.800-1G>A |
single nucleotide variant |
not provided [RCV002914406] |
Chr11:67458630 [GRCh38] Chr11:67226101 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.400C>T (p.Leu134Phe) |
single nucleotide variant |
not provided [RCV002621300] |
Chr11:67456301 [GRCh38] Chr11:67223772 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.717C>G (p.Leu239=) |
single nucleotide variant |
not provided [RCV002976180] |
Chr11:67458436 [GRCh38] Chr11:67225907 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.495C>T (p.Pro165=) |
single nucleotide variant |
not provided [RCV002591757] |
Chr11:67456396 [GRCh38] Chr11:67223867 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.253C>T (p.Pro85Ser) |
single nucleotide variant |
not provided [RCV002820697] |
Chr11:67455676 [GRCh38] Chr11:67223147 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.708G>A (p.Pro236=) |
single nucleotide variant |
not provided [RCV002846707] |
Chr11:67458427 [GRCh38] Chr11:67225898 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.649G>C (p.Glu217Gln) |
single nucleotide variant |
not provided [RCV002621526] |
Chr11:67457680 [GRCh38] Chr11:67225151 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.384C>T (p.Pro128=) |
single nucleotide variant |
not provided [RCV002909375] |
Chr11:67456205 [GRCh38] Chr11:67223676 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.800-2A>G |
single nucleotide variant |
not provided [RCV002569995] |
Chr11:67458629 [GRCh38] Chr11:67226100 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.477G>A (p.Arg159=) |
single nucleotide variant |
not provided [RCV002637129] |
Chr11:67456378 [GRCh38] Chr11:67223849 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.394G>T (p.Asp132Tyr) |
single nucleotide variant |
not provided [RCV003019340] |
Chr11:67456215 [GRCh38] Chr11:67223686 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.544G>A (p.Gly182Ser) |
single nucleotide variant |
not provided [RCV002958515] |
Chr11:67457575 [GRCh38] Chr11:67225046 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.421T>A (p.Phe141Ile) |
single nucleotide variant |
not provided [RCV002918490] |
Chr11:67456322 [GRCh38] Chr11:67223793 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.73G>T (p.Val25Phe) |
single nucleotide variant |
not provided [RCV003007388] |
Chr11:67455496 [GRCh38] Chr11:67222967 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.21G>C (p.Arg7Ser) |
single nucleotide variant |
not provided [RCV002890580] |
Chr11:67455444 [GRCh38] Chr11:67222915 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.737C>G (p.Pro246Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002742667] |
Chr11:67458456 [GRCh38] Chr11:67225927 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.398-9C>T |
single nucleotide variant |
not provided [RCV002710287] |
Chr11:67456290 [GRCh38] Chr11:67223761 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.541+8A>T |
single nucleotide variant |
not provided [RCV002624024] |
Chr11:67456450 [GRCh38] Chr11:67223921 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.595A>G (p.Arg199Gly) |
single nucleotide variant |
not provided [RCV002928681] |
Chr11:67457626 [GRCh38] Chr11:67225097 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.276T>G (p.Ser92=) |
single nucleotide variant |
not provided [RCV002875668] |
Chr11:67455699 [GRCh38] Chr11:67223170 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.439G>C (p.Gly147Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002849993] |
Chr11:67456340 [GRCh38] Chr11:67223811 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.36A>G (p.Pro12=) |
single nucleotide variant |
not provided [RCV003023357] |
Chr11:67455459 [GRCh38] Chr11:67222930 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.233_234del (p.Glu78fs) |
microsatellite |
not provided [RCV002890623] |
Chr11:67455653..67455654 [GRCh38] Chr11:67223124..67223125 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_145200.5(CABP4):c.786C>T (p.Thr262=) |
single nucleotide variant |
not provided [RCV003058779] |
Chr11:67458505 [GRCh38] Chr11:67225976 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.284A>G (p.Gln95Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002644718] |
Chr11:67455707 [GRCh38] Chr11:67223178 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.262C>T (p.Pro88Ser) |
single nucleotide variant |
not provided [RCV003091734] |
Chr11:67455685 [GRCh38] Chr11:67223156 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.748G>A (p.Glu250Lys) |
single nucleotide variant |
not provided [RCV003031724] |
Chr11:67458467 [GRCh38] Chr11:67225938 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.584dup (p.Leu198fs) |
duplication |
not provided [RCV002899215] |
Chr11:67457613..67457614 [GRCh38] Chr11:67225084..67225085 [GRCh37] Chr11:11q13.2 |
pathogenic |
NM_145200.5(CABP4):c.619G>C (p.Gly207Arg) |
single nucleotide variant |
not provided [RCV002988405] |
Chr11:67457650 [GRCh38] Chr11:67225121 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.87G>A (p.Lys29=) |
single nucleotide variant |
not provided [RCV002833881] |
Chr11:67455510 [GRCh38] Chr11:67222981 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.366+10G>C |
single nucleotide variant |
not provided [RCV003044561] |
Chr11:67455799 [GRCh38] Chr11:67223270 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_206997.1(GPR152):c.193C>T (p.Arg65Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002989076] |
Chr11:67452532 [GRCh38] Chr11:67220003 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.59A>G (p.Lys20Arg) |
single nucleotide variant |
not provided [RCV002792109] |
Chr11:67455482 [GRCh38] Chr11:67222953 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.366+7T>C |
single nucleotide variant |
not provided [RCV003030770] |
Chr11:67455796 [GRCh38] Chr11:67223267 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.799+20A>G |
single nucleotide variant |
not provided [RCV002720140] |
Chr11:67458538 [GRCh38] Chr11:67226009 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.652-12C>T |
single nucleotide variant |
not provided [RCV002651095] |
Chr11:67458359 [GRCh38] Chr11:67225830 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.86A>G (p.Lys29Arg) |
single nucleotide variant |
not provided [RCV003009497] |
Chr11:67455509 [GRCh38] Chr11:67222980 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.604A>G (p.Thr202Ala) |
single nucleotide variant |
not provided [RCV003091264] |
Chr11:67457635 [GRCh38] Chr11:67225106 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.609G>A (p.Ala203=) |
single nucleotide variant |
not provided [RCV002988660] |
Chr11:67457640 [GRCh38] Chr11:67225111 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.139G>C (p.Gly47Arg) |
single nucleotide variant |
not provided [RCV002635794] |
Chr11:67455562 [GRCh38] Chr11:67223033 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.615G>T (p.Met205Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002944564] |
Chr11:67457646 [GRCh38] Chr11:67225117 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.778G>T (p.Asp260Tyr) |
single nucleotide variant |
not provided [RCV002605908] |
Chr11:67458497 [GRCh38] Chr11:67225968 [GRCh37] Chr11:11q13.2 |
uncertain significance |
NM_145200.5(CABP4):c.129G>A (p.Lys43=) |
single nucleotide variant |
not provided [RCV002612756] |
Chr11:67455552 [GRCh38] Chr11:67223023 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.366+11A>G |
single nucleotide variant |
not provided [RCV003874380] |
Chr11:67455800 [GRCh38] Chr11:67223271 [GRCh37] Chr11:11q13.2 |
likely benign |
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 |
copy number gain |
not provided [RCV003484842] |
Chr11:59923608..76272324 [GRCh37] Chr11:11q12.2-13.5 |
pathogenic |
NM_145200.5(CABP4):c.789A>G (p.Val263=) |
single nucleotide variant |
not provided [RCV003572932] |
Chr11:67458508 [GRCh38] Chr11:67225979 [GRCh37] Chr11:11q13.2 |
likely benign |
NM_145200.5(CABP4):c.542-12C>A |
single nucleotide variant |
not provided [RCV003689165] |
Chr11:67457561 [GRCh38] Chr11:67225032 [GRCh37] Chr11:11q13.2 |
likely benign |