NM_004744.5(LRAT):c.400_401del (p.Lys134fs) |
deletion |
RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED [RCV000005662] |
Chr4:154744723..154744724 [GRCh38] Chr4:155665875..155665876 [GRCh37] Chr4:4q32.1 |
pathogenic |
NM_004744.5(LRAT):c.217_218del (p.Met73fs) |
deletion |
Leber congenital amaurosis 14 [RCV000005663]|RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED [RCV000005664]|not provided [RCV001380248] |
Chr4:154744543..154744544 [GRCh38] Chr4:155665695..155665696 [GRCh37] Chr4:4q32.1 |
pathogenic |
NM_004744.5(LRAT):c.504C>A (p.Cys168Ter) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001526725] |
Chr4:154744830 [GRCh38] Chr4:155665982 [GRCh37] Chr4:4q32.1 |
pathogenic |
NM_004744.5(LRAT):c.163C>T (p.Arg55Trp) |
single nucleotide variant |
Retinitis pigmentosa [RCV000132653] |
Chr4:154744489 [GRCh38] Chr4:155665641 [GRCh37] Chr4:4q32.1 |
likely pathogenic |
NM_004744.5(LRAT):c.525T>A (p.Ser175Arg) |
single nucleotide variant |
RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED [RCV000005661]|not provided [RCV000086208] |
Chr4:154744851 [GRCh38] Chr4:155666003 [GRCh37] Chr4:4q32.1 |
pathogenic|not provided |
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 |
copy number gain |
See cases [RCV000051785] |
Chr4:118065569..190042639 [GRCh38] Chr4:118986724..190828225 [GRCh37] Chr4:119206172..191200788 [NCBI36] Chr4:4q26-35.2 |
pathogenic |
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 |
copy number gain |
See cases [RCV000051786] |
Chr4:121518223..190062270 [GRCh38] Chr4:122439378..190828225 [GRCh37] Chr4:122658828..191220419 [NCBI36] Chr4:4q27-35.2 |
pathogenic |
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 |
copy number gain |
See cases [RCV000051788] |
Chr4:147317283..173675559 [GRCh38] Chr4:148238435..174596710 [GRCh37] Chr4:148457885..174833285 [NCBI36] Chr4:4q31.22-34.1 |
pathogenic |
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] |
Chr4:148356485..189548183 [GRCh38] Chr4:149277637..190469337 [GRCh37] Chr4:149497087..190706331 [NCBI36] Chr4:4q31.23-35.2 |
pathogenic |
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] |
Chr4:92913386..165299707 [GRCh38] Chr4:93834537..166220859 [GRCh37] Chr4:94053560..166440309 [NCBI36] Chr4:4q22.2-32.3 |
pathogenic |
GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1 |
copy number loss |
See cases [RCV000053324] |
Chr4:153656785..154928773 [GRCh38] Chr4:154577937..155849925 [GRCh37] Chr4:154797387..156069375 [NCBI36] Chr4:4q31.3-32.1 |
pathogenic |
NM_004744.5(LRAT):c.588dup (p.Ala197fs) |
duplication |
not provided [RCV000081184] |
Chr4:154749029..154749030 [GRCh38] Chr4:155670181..155670182 [GRCh37] Chr4:4q32.1 |
pathogenic |
NM_004744.5(LRAT):c.342G>A (p.Glu114=) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000391650]|Leber congenital amaurosis [RCV000305110]|Retinitis pigmentosa [RCV000344978]|not provided [RCV000086207] |
Chr4:154744668 [GRCh38] Chr4:155665820 [GRCh37] Chr4:4q32.1 |
benign|likely benign|not provided |
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001144270]|Retinitis pigmentosa [RCV001144271]|not provided [RCV000086956]|not specified [RCV001804840] |
Chr4:154744400 [GRCh38] Chr4:155665552 [GRCh37] Chr4:4q32.1 |
benign|likely benign|not provided |
NM_004744.5(LRAT):c.233_242del (p.Leu78fs) |
deletion |
Autosomal recessive retinitis pigmentosa [RCV001257788]|not provided [RCV000171516] |
Chr4:154744559..154744568 [GRCh38] Chr4:155665711..155665720 [GRCh37] Chr4:4q32.1 |
pathogenic|likely pathogenic |
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 |
copy number gain |
See cases [RCV000135845] |
Chr4:145042668..189975519 [GRCh38] Chr4:145963820..190828225 [GRCh37] Chr4:146183270..191133668 [NCBI36] Chr4:4q31.21-35.2 |
pathogenic |
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 |
copy number loss |
See cases [RCV000135696] |
Chr4:151299810..160314050 [GRCh38] Chr4:152220962..161235202 [GRCh37] Chr4:152440412..161454652 [NCBI36] Chr4:4q31.3-32.1 |
likely pathogenic |
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 |
copy number gain |
See cases [RCV000136810] |
Chr4:138510532..189963195 [GRCh38] Chr4:139431686..190828225 [GRCh37] Chr4:139651136..191121344 [NCBI36] Chr4:4q31.1-35.2 |
pathogenic |
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 |
copy number gain |
See cases [RCV000137721] |
Chr4:131985253..190095391 [GRCh38] Chr4:132906408..190828225 [GRCh37] Chr4:133125858..191250527 [NCBI36] Chr4:4q28.3-35.2 |
pathogenic|likely benign |
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 |
copy number gain |
See cases [RCV000138578] |
Chr4:125432943..185761887 [GRCh38] Chr4:126354098..186683041 [GRCh37] Chr4:126573548..186920035 [NCBI36] Chr4:4q28.1-35.1 |
pathogenic|likely benign |
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 |
copy number gain |
See cases [RCV000143559] |
Chr4:134935616..190036318 [GRCh38] Chr4:135856771..190957473 [GRCh37] Chr4:136076221..191194467 [NCBI36] Chr4:4q28.3-35.2 |
pathogenic |
GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3 |
copy number gain |
See cases [RCV000143617] |
Chr4:152500649..155788803 [GRCh38] Chr4:153421801..156709955 [GRCh37] Chr4:153641251..156929405 [NCBI36] Chr4:4q31.3-32.1 |
likely pathogenic |
NM_004744.5(LRAT):c.*3T>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000357330]|Leber congenital amaurosis [RCV000298961]|Retinitis pigmentosa [RCV000262458]|not provided [RCV000153453] |
Chr4:154749139 [GRCh38] Chr4:155670291 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.398A>C (p.Lys133Thr) |
single nucleotide variant |
not provided [RCV000175790] |
Chr4:154744724 [GRCh38] Chr4:155665876 [GRCh37] Chr4:4q32.1 |
uncertain significance |
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 |
copy number gain |
See cases [RCV000240245] |
Chr4:136912336..184253252 [GRCh37] Chr4:4q28.3-35.1 |
pathogenic |
NM_004744.5(LRAT):c.*3654T>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000361977]|Retinal dystrophy [RCV000264860]|Retinitis pigmentosa [RCV000304933] |
Chr4:154752790 [GRCh38] Chr4:155673942 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3980T>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000262085]|Retinal dystrophy [RCV000356955]|Retinitis pigmentosa [RCV000331303] |
Chr4:154753116 [GRCh38] Chr4:155674268 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3712G>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000356166]|Leber congenital amaurosis [RCV000263747]|Retinitis pigmentosa [RCV000322290] |
Chr4:154752848 [GRCh38] Chr4:155674000 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000373271]|Leber congenital amaurosis [RCV000318562]|Retinitis pigmentosa [RCV000259610]|not provided [RCV001337653] |
Chr4:154744531 [GRCh38] Chr4:155665683 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.78T>A (p.Ser26Arg) |
single nucleotide variant |
Ductal breast carcinoma [RCV000207169] |
Chr4:154744404 [GRCh38] Chr4:155665556 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.473G>A (p.Trp158Ter) |
single nucleotide variant |
Retinal dystrophy [RCV000225673]|not provided [RCV000760505] |
Chr4:154744799 [GRCh38] Chr4:155665951 [GRCh37] Chr4:4q32.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 |
copy number gain |
See cases [RCV000240392] |
Chr4:119437495..190904301 [GRCh37] Chr4:4q26-35.2 |
pathogenic |
NM_004744.5(LRAT):c.*826C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000392152]|Retinal dystrophy [RCV000278503]|Retinitis pigmentosa [RCV000335877] |
Chr4:154749962 [GRCh38] Chr4:155671114 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*817A>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000283280]|Retinal dystrophy [RCV000374361]|Retinitis pigmentosa [RCV000319645] |
Chr4:154749953 [GRCh38] Chr4:155671105 [GRCh37] Chr4:4q32.1 |
benign|likely benign |
NM_004744.5(LRAT):c.*3264G>A |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000280544]|Leber congenital amaurosis [RCV000372379]|Retinitis pigmentosa [RCV000319241] |
Chr4:154752400 [GRCh38] Chr4:155673552 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*106T>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000273931]|Retinal dystrophy [RCV000329034]|Retinitis pigmentosa [RCV000387556] |
Chr4:154749242 [GRCh38] Chr4:155670394 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2670G>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000365961]|Leber congenital amaurosis [RCV000308980]|Retinitis pigmentosa [RCV000274777] |
Chr4:154751806 [GRCh38] Chr4:155672958 [GRCh37] Chr4:4q32.1 |
benign|likely benign |
NM_004744.5(LRAT):c.*640T>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000326359]|Leber congenital amaurosis [RCV000271399]|Retinitis pigmentosa [RCV000362463] |
Chr4:154749776 [GRCh38] Chr4:155670928 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2463T>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000271194]|Leber congenital amaurosis [RCV000328759]|Retinitis pigmentosa [RCV000386645] |
Chr4:154751599 [GRCh38] Chr4:155672751 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.487C>G (p.His163Asp) |
single nucleotide variant |
Retinitis pigmentosa [RCV001199703]|not provided [RCV000487578] |
Chr4:154744813 [GRCh38] Chr4:155665965 [GRCh37] Chr4:4q32.1 |
pathogenic|uncertain significance |
NM_004744.5(LRAT):c.*1338T>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000359826]|Leber congenital amaurosis [RCV000267706]|Retinitis pigmentosa [RCV000307679] |
Chr4:154750474 [GRCh38] Chr4:155671626 [GRCh37] Chr4:4q32.1 |
benign|likely benign |
NM_004744.5(LRAT):c.*98C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000277933]|Leber congenital amaurosis [RCV000354005]|Retinitis pigmentosa [RCV000333107]|Rod-cone dystrophy [RCV001090045] |
Chr4:154749234 [GRCh38] Chr4:155670386 [GRCh37] Chr4:4q32.1 |
likely benign|uncertain significance |
NM_004744.5(LRAT):c.*2396C>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000405410]|Retinal dystrophy [RCV000339910]|Retinitis pigmentosa [RCV000300147] |
Chr4:154751532 [GRCh38] Chr4:155672684 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2625A>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000390667]|Leber congenital amaurosis [RCV000314893]|Retinitis pigmentosa [RCV000367124] |
Chr4:154751761 [GRCh38] Chr4:155672913 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000341318]|Leber congenital amaurosis [RCV000405767]|Retinitis pigmentosa [RCV000302543]|not provided [RCV000732304] |
Chr4:154744729 [GRCh38] Chr4:155665881 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3819T>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000347237]|Leber congenital amaurosis [RCV000288916]|Retinitis pigmentosa [RCV000392699] |
Chr4:154752955 [GRCh38] Chr4:155674107 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.258G>A (p.Gly86=) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000290030]|Leber congenital amaurosis [RCV000348458]|Retinitis pigmentosa [RCV000384403] |
Chr4:154744584 [GRCh38] Chr4:155665736 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT |
insertion |
Leber congenital amaurosis [RCV000347036]|Retinal dystrophy [RCV000384722]|Retinitis Pigmentosa, Recessive [RCV000288526] |
Chr4:154751392..154751393 [GRCh38] Chr4:155672544..155672545 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.*2310A>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000306037]|Retinal dystrophy [RCV000392775]|Retinitis pigmentosa [RCV000345804] |
Chr4:154751446 [GRCh38] Chr4:155672598 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3459dup |
duplication |
Leber congenital amaurosis [RCV000293170]|Retinal dystrophy [RCV000408137]|Retinitis Pigmentosa, Recessive [RCV000350483] |
Chr4:154752585..154752586 [GRCh38] Chr4:155673737..155673738 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.244A>G (p.Thr82Ala) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000293647]|Retinal dystrophy [RCV000387959]|Retinitis pigmentosa [RCV000333433] |
Chr4:154744570 [GRCh38] Chr4:155665722 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*1281C>A |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000365734]|Retinal dystrophy [RCV000308745]|Retinitis pigmentosa [RCV000406435] |
Chr4:154750417 [GRCh38] Chr4:155671569 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*1867C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000316614]|Retinal dystrophy [RCV000295462]|Retinitis pigmentosa [RCV000373449] |
Chr4:154751003 [GRCh38] Chr4:155672155 [GRCh37] Chr4:4q32.1 |
benign|likely benign |
NM_004744.5(LRAT):c.*3618G>A |
single nucleotide variant |
Leber congenital amaurosis [RCV000310317]|Retinal dystrophy [RCV000363231]|Retinitis pigmentosa [RCV000402661] |
Chr4:154752754 [GRCh38] Chr4:155673906 [GRCh37] Chr4:4q32.1 |
benign|likely benign |
NM_004744.5(LRAT):c.*1155T>A |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000406170]|Retinal dystrophy [RCV000348534]|Retinitis pigmentosa [RCV000296050] |
Chr4:154750291 [GRCh38] Chr4:155671443 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2529C>T |
single nucleotide variant |
Leber congenital amaurosis [RCV000297399]|Retinal dystrophy [RCV000407189]|Retinitis pigmentosa [RCV000335951] |
Chr4:154751665 [GRCh38] Chr4:155672817 [GRCh37] Chr4:4q32.1 |
likely benign|uncertain significance |
NM_004744.5(LRAT):c.*329T>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000406747]|Retinal dystrophy [RCV000335676]|Retinitis pigmentosa [RCV000280529] |
Chr4:154749465 [GRCh38] Chr4:155670617 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2418G>A |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000298246]|Leber congenital amaurosis [RCV000356561]|Retinitis pigmentosa [RCV000259391] |
Chr4:154751554 [GRCh38] Chr4:155672706 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2477_*2479del |
deletion |
Leber congenital amaurosis [RCV000340580]|Retinal dystrophy [RCV000379995]|Retinitis Pigmentosa, Recessive [RCV000283200] |
Chr4:154751611..154751613 [GRCh38] Chr4:155672763..155672765 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.-2+7A>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000304425]|Leber congenital amaurosis [RCV000358145]|Retinitis pigmentosa [RCV000263378] |
Chr4:154744229 [GRCh38] Chr4:155665381 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*1585T>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000263696]|Leber congenital amaurosis [RCV000320456]|Retinitis pigmentosa [RCV000358852] |
Chr4:154750721 [GRCh38] Chr4:155671873 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2453C>A |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000369378]|Leber congenital amaurosis [RCV000277145]|Retinitis pigmentosa [RCV000329848] |
Chr4:154751589 [GRCh38] Chr4:155672741 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2968C>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000267481]|Retinal dystrophy [RCV000320496]|Retinitis pigmentosa [RCV000377439] |
Chr4:154752104 [GRCh38] Chr4:155673256 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.-84C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000268041]|Retinal dystrophy [RCV000362672]|Retinitis pigmentosa [RCV000307915] |
Chr4:154744140 [GRCh38] Chr4:155665292 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*671A>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000322998]|Retinal dystrophy [RCV000377758]|Retinitis pigmentosa [RCV000267963] |
Chr4:154749807 [GRCh38] Chr4:155670959 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2741_*2743dup |
duplication |
Leber congenital amaurosis [RCV000268807]|Retinal dystrophy [RCV000326252]|Retinitis Pigmentosa, Recessive [RCV000378596] |
Chr4:154751876..154751877 [GRCh38] Chr4:155673028..155673029 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3435A>C |
single nucleotide variant |
Leber congenital amaurosis [RCV000351548]|Retinal dystrophy [RCV000280117]|Retinitis Pigmentosa, Recessive [RCV000408165] |
Chr4:154752571 [GRCh38] Chr4:155673723 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.300C>T (p.Gly100=) |
single nucleotide variant |
not provided [RCV000595141] |
Chr4:154744626 [GRCh38] Chr4:155665778 [GRCh37] Chr4:4q32.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004744.5(LRAT):c.*549T>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000401913]|Leber congenital amaurosis [RCV000369131]|Retinitis pigmentosa [RCV000314421] |
Chr4:154749685 [GRCh38] Chr4:155670837 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2190C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000294403]|Retinal dystrophy [RCV000386319]|Retinitis pigmentosa [RCV000334218] |
Chr4:154751326 [GRCh38] Chr4:155672478 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3729del |
deletion |
Leber congenital amaurosis [RCV000387817]|Retinal dystrophy [RCV000316952]|Retinitis Pigmentosa, Recessive [RCV000295697] |
Chr4:154752858 [GRCh38] Chr4:155674010 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*313del |
deletion |
Leber congenital amaurosis [RCV000380435]|Retinal dystrophy [RCV000340983]|Retinitis Pigmentosa, Recessive [RCV000285976] |
Chr4:154749441 [GRCh38] Chr4:155670593 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3978C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000359103]|Retinal dystrophy [RCV000404355]|Retinitis pigmentosa [RCV000297472] |
Chr4:154753114 [GRCh38] Chr4:155674266 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2467C>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000341643]|Leber congenital amaurosis [RCV000289014]|Retinitis pigmentosa [RCV000381100] |
Chr4:154751603 [GRCh38] Chr4:155672755 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.-115C>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000405924]|Leber congenital amaurosis [RCV000311278]|Retinitis pigmentosa [RCV000347396] |
Chr4:154744109 [GRCh38] Chr4:155665261 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*632T>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000404944]|Retinal dystrophy [RCV000311070]|Retinitis pigmentosa [RCV000366021] |
Chr4:154749768 [GRCh38] Chr4:155670920 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*298_*301del |
deletion |
Leber congenital amaurosis [RCV000344570]|Retinal dystrophy [RCV000289645]|Retinitis Pigmentosa, Recessive [RCV000383654] |
Chr4:154749431..154749434 [GRCh38] Chr4:155670583..155670586 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3770A>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000329614]|Retinal dystrophy [RCV000386711]|Retinitis pigmentosa [RCV000290046] |
Chr4:154752906 [GRCh38] Chr4:155674058 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3958G>A |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV000341553]|Retinal dystrophy [RCV000301953]|Retinitis pigmentosa [RCV000392712] |
Chr4:154753094 [GRCh38] Chr4:155674246 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.459dup (p.Tyr154fs) |
duplication |
not provided [RCV000598854] |
Chr4:154744780..154744781 [GRCh38] Chr4:155665932..155665933 [GRCh37] Chr4:4q32.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 |
copy number gain |
See cases [RCV000446653] |
Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) |
copy number gain |
See cases [RCV000510453] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 |
copy number gain |
See cases [RCV000510713] |
Chr4:153890440..190957473 [GRCh37] Chr4:4q31.3-35.2 |
pathogenic |
GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1 |
copy number loss |
See cases [RCV000511404] |
Chr4:153203431..162912359 [GRCh37] Chr4:4q31.3-32.2 |
pathogenic |
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 |
copy number gain |
See cases [RCV000511945] |
Chr4:109199664..189752726 [GRCh37] Chr4:4q25-35.2 |
pathogenic |
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 |
copy number gain |
See cases [RCV000510970] |
Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 |
copy number gain |
See cases [RCV000512241] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1 |
copy number loss |
not provided [RCV000682474] |
Chr4:154763131..158404825 [GRCh37] Chr4:4q31.3-32.1 |
likely pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 |
copy number gain |
not provided [RCV000743155] |
Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q32.1(chr4:155627814-155678345)x1 |
copy number loss |
not provided [RCV000744065] |
Chr4:155627814..155678345 [GRCh37] Chr4:4q32.1 |
benign |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 |
copy number gain |
not provided [RCV000743156] |
Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 |
copy number gain |
not provided [RCV000743147] |
Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu) |
single nucleotide variant |
Leber congenital amaurosis 1 [RCV000987484]|Leber congenital amaurosis 14 [RCV002250709]|not provided [RCV001858669] |
Chr4:154744672 [GRCh38] Chr4:155665824 [GRCh37] Chr4:4q32.1 |
likely pathogenic|uncertain significance |
NM_004744.5(LRAT):c.*2854A>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001149310]|Retinitis pigmentosa [RCV001149311] |
Chr4:154751990 [GRCh38] Chr4:155673142 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.8A>G (p.Asn3Ser) |
single nucleotide variant |
not provided [RCV000981663] |
Chr4:154744334 [GRCh38] Chr4:155665486 [GRCh37] Chr4:4q32.1 |
benign |
NM_004744.5(LRAT):c.264_265dup (p.Gln89fs) |
duplication |
Retinitis pigmentosa [RCV000787848] |
Chr4:154744588..154744589 [GRCh38] Chr4:155665740..155665741 [GRCh37] Chr4:4q32.1 |
likely pathogenic |
NM_004744.5(LRAT):c.611C>T (p.Ala204Val) |
single nucleotide variant |
not provided [RCV000877819] |
Chr4:154749054 [GRCh38] Chr4:155670206 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) |
single nucleotide variant |
Leber congenital amaurosis [RCV000826116] |
Chr4:154744366 [GRCh38] Chr4:155665518 [GRCh37] Chr4:4q32.1 |
likely pathogenic |
GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1 |
copy number loss |
not provided [RCV000848578] |
Chr4:154907679..159012980 [GRCh37] Chr4:4q31.3-32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*81T>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001148968]|Retinitis pigmentosa [RCV001150476] |
Chr4:154749217 [GRCh38] Chr4:155670369 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2417G>A |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001150706]|Retinitis pigmentosa [RCV001150707] |
Chr4:154751553 [GRCh38] Chr4:155672705 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.364A>G (p.Ile122Val) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001146156]|Retinitis pigmentosa [RCV001146157]|not provided [RCV001858960] |
Chr4:154744690 [GRCh38] Chr4:155665842 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*517G>A |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001144390]|Retinitis pigmentosa [RCV001146283] |
Chr4:154749653 [GRCh38] Chr4:155670805 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*1936G>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001146421]|Retinitis pigmentosa [RCV001146420] |
Chr4:154751072 [GRCh38] Chr4:155672224 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2629G>A |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001146546]|Retinitis pigmentosa [RCV001146545] |
Chr4:154751765 [GRCh38] Chr4:155672917 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2222G>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001149198]|Retinitis pigmentosa [RCV001149199] |
Chr4:154751358 [GRCh38] Chr4:155672510 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*624T>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001146286]|Retinitis pigmentosa [RCV001146287] |
Chr4:154749760 [GRCh38] Chr4:155670912 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3263C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001150808]|Retinitis pigmentosa [RCV001150807] |
Chr4:154752399 [GRCh38] Chr4:155673551 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3714T>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001146663]|Retinitis pigmentosa [RCV001146662] |
Chr4:154752850 [GRCh38] Chr4:155674002 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly) |
single nucleotide variant |
Leber congenital amaurosis 1 [RCV000987482]|not provided [RCV001858668] |
Chr4:154744489 [GRCh38] Chr4:155665641 [GRCh37] Chr4:4q32.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 |
copy number gain |
not provided [RCV000849098] |
Chr4:151174061..190957473 [GRCh37] Chr4:4q31.3-35.2 |
pathogenic |
NM_004744.5(LRAT):c.139C>T (p.Arg47Ter) |
single nucleotide variant |
not provided [RCV001008711] |
Chr4:154744465 [GRCh38] Chr4:155665617 [GRCh37] Chr4:4q32.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 |
copy number gain |
not provided [RCV000849686] |
Chr4:124873497..185278662 [GRCh37] Chr4:4q28.1-35.1 |
pathogenic |
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser) |
single nucleotide variant |
Leber congenital amaurosis 1 [RCV000987483] |
Chr4:154744624 [GRCh38] Chr4:155665776 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3072G>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001149314]|Retinitis pigmentosa [RCV001149315] |
Chr4:154752208 [GRCh38] Chr4:155673360 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*98C>A |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001150477]|Retinitis pigmentosa [RCV001150478] |
Chr4:154749234 [GRCh38] Chr4:155670386 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3081A>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001150801]|Retinitis pigmentosa [RCV001150802] |
Chr4:154752217 [GRCh38] Chr4:155673369 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3213C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001150806]|Retinitis pigmentosa [RCV001150805] |
Chr4:154752349 [GRCh38] Chr4:155673501 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.80C>G (p.Ser27Trp) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001144272]|Retinitis pigmentosa [RCV001144273]|not provided [RCV001307491] |
Chr4:154744406 [GRCh38] Chr4:155665558 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3509C>A |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001144698]|Retinitis pigmentosa [RCV001144699] |
Chr4:154752645 [GRCh38] Chr4:155673797 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.476A>G (p.Asn159Ser) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001148964]|Retinitis pigmentosa [RCV001148965]|not provided [RCV001858977] |
Chr4:154744802 [GRCh38] Chr4:155665954 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.627G>A (p.Thr209=) |
single nucleotide variant |
not provided [RCV000951670] |
Chr4:154749070 [GRCh38] Chr4:155670222 [GRCh37] Chr4:4q32.1 |
benign |
NM_004744.5(LRAT):c.*2458C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001144610]|Retinitis pigmentosa [RCV001144611] |
Chr4:154751594 [GRCh38] Chr4:155672746 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3382G>A |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001144696]|Retinitis pigmentosa [RCV001144697] |
Chr4:154752518 [GRCh38] Chr4:155673670 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.*2322C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001149201]|Retinitis pigmentosa [RCV001149200] |
Chr4:154751458 [GRCh38] Chr4:155672610 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2347C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001149202]|Retinitis pigmentosa [RCV001150705] |
Chr4:154751483 [GRCh38] Chr4:155672635 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.26T>C (p.Val9Ala) |
single nucleotide variant |
not provided [RCV001228014] |
Chr4:154744352 [GRCh38] Chr4:155665504 [GRCh37] Chr4:4q32.1 |
uncertain significance |
GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1 |
copy number loss |
not provided [RCV001005606] |
Chr4:153061243..157994448 [GRCh37] Chr4:4q31.3-32.1 |
likely pathogenic |
NM_004744.5(LRAT):c.*138C>A |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001150479]|Retinitis pigmentosa [RCV001144385] |
Chr4:154749274 [GRCh38] Chr4:155670426 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*495C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001144389]|Retinitis pigmentosa [RCV001144388] |
Chr4:154749631 [GRCh38] Chr4:155670783 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*1418C>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001144499]|Retinitis pigmentosa [RCV001144500] |
Chr4:154750554 [GRCh38] Chr4:155671706 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3163C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001150803]|Retinitis pigmentosa [RCV001150804] |
Chr4:154752299 [GRCh38] Chr4:155673451 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.519G>T (p.Pro173=) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001148966]|Retinitis pigmentosa [RCV001148967]|not provided [RCV002070807] |
Chr4:154744845 [GRCh38] Chr4:155665997 [GRCh37] Chr4:4q32.1 |
likely benign|uncertain significance |
NM_004744.5(LRAT):c.428G>T (p.Arg143Leu) |
single nucleotide variant |
not provided [RCV001233313] |
Chr4:154744754 [GRCh38] Chr4:155665906 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.517C>T (p.Pro173Ser) |
single nucleotide variant |
not provided [RCV001041608] |
Chr4:154744843 [GRCh38] Chr4:155665995 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.-1-12T>C |
single nucleotide variant |
Retinitis pigmentosa [RCV001150362] |
Chr4:154744314 [GRCh38] Chr4:155665466 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.-15C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001150360]|Retinitis pigmentosa [RCV001150361] |
Chr4:154744209 [GRCh38] Chr4:155665361 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*828G>C |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001150589]|Retinitis pigmentosa [RCV001150590] |
Chr4:154749964 [GRCh38] Chr4:155671116 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.197G>A (p.Gly66Glu) |
single nucleotide variant |
not provided [RCV001042750] |
Chr4:154744523 [GRCh38] Chr4:155665675 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.299G>A (p.Gly100Asp) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001257115]|not provided [RCV001044592] |
Chr4:154744625 [GRCh38] Chr4:155665777 [GRCh37] Chr4:4q32.1 |
likely pathogenic|uncertain significance |
NM_004744.5(LRAT):c.99C>A (p.Asp33Glu) |
single nucleotide variant |
not provided [RCV001234679] |
Chr4:154744425 [GRCh38] Chr4:155665577 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.190T>C (p.Tyr64His) |
single nucleotide variant |
not provided [RCV001230586] |
Chr4:154744516 [GRCh38] Chr4:155665668 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.628G>C (p.Gly210Arg) |
single nucleotide variant |
not provided [RCV001208190] |
Chr4:154749071 [GRCh38] Chr4:155670223 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*336C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001144387]|Retinitis pigmentosa [RCV001144386] |
Chr4:154749472 [GRCh38] Chr4:155670624 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*1390G>A |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001144497]|Retinitis pigmentosa [RCV001144498] |
Chr4:154750526 [GRCh38] Chr4:155671678 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*561A>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001146284]|Retinitis pigmentosa [RCV001146285] |
Chr4:154749697 [GRCh38] Chr4:155670849 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2064T>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001146422]|Retinitis pigmentosa [RCV001146423] |
Chr4:154751200 [GRCh38] Chr4:155672352 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*1120C>T |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001150592]|Retinitis pigmentosa [RCV001150591] |
Chr4:154750256 [GRCh38] Chr4:155671408 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*3917A>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001147569]|Retinitis pigmentosa [RCV001147570] |
Chr4:154753053 [GRCh38] Chr4:155674205 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.*2855A>G |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001149312]|Retinitis pigmentosa [RCV001149313] |
Chr4:154751991 [GRCh38] Chr4:155673143 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.319A>G (p.Ser107Gly) |
single nucleotide variant |
not provided [RCV001231896] |
Chr4:154744645 [GRCh38] Chr4:155665797 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.111C>G (p.Asn37Lys) |
single nucleotide variant |
not provided [RCV001215926] |
Chr4:154744437 [GRCh38] Chr4:155665589 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.-199G>T |
single nucleotide variant |
Retinitis pigmentosa [RCV001148829] |
Chr4:154744025 [GRCh38] Chr4:155665177 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.139C>A (p.Arg47=) |
single nucleotide variant |
not provided [RCV001246051] |
Chr4:154744465 [GRCh38] Chr4:155665617 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NC_000004.12:g.(?_154740841)_(154749136_?)del |
deletion |
Leber congenital amaurosis 14 [RCV001257114] |
Chr4:154740841..154749136 [GRCh38] Chr4:4q32.1 |
pathogenic |
GRCh37/hg19 4q31.3-32.1(chr4:155528674-156370083)x3 |
copy number gain |
not provided [RCV001259878] |
Chr4:155528674..156370083 [GRCh37] Chr4:4q31.3-32.1 |
likely benign |
NM_004744.5(LRAT):c.626C>T (p.Thr209Met) |
single nucleotide variant |
not provided [RCV001348300] |
Chr4:154749069 [GRCh38] Chr4:155670221 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.487C>T (p.His163Tyr) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001257117]|not specified [RCV001732094] |
Chr4:154744813 [GRCh38] Chr4:155665965 [GRCh37] Chr4:4q32.1 |
likely pathogenic|uncertain significance |
NM_004744.5(LRAT):c.149T>G (p.Val50Gly) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001257119] |
Chr4:154744475 [GRCh38] Chr4:155665627 [GRCh37] Chr4:4q32.1 |
likely pathogenic |
NM_004744.5(LRAT):c.241_242del (p.Leu81fs) |
deletion |
Autosomal recessive retinitis pigmentosa [RCV001257787] |
Chr4:154744567..154744568 [GRCh38] Chr4:155665719..155665720 [GRCh37] Chr4:4q32.1 |
pathogenic |
NM_004744.5(LRAT):c.481T>C (p.Cys161Arg) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001257116] |
Chr4:154744807 [GRCh38] Chr4:155665959 [GRCh37] Chr4:4q32.1 |
likely pathogenic |
NM_004744.5(LRAT):c.554_555del (p.Val185fs) |
microsatellite |
Leber congenital amaurosis 14 [RCV001257118] |
Chr4:154748995..154748996 [GRCh38] Chr4:155670147..155670148 [GRCh37] Chr4:4q32.1 |
pathogenic |
NM_004744.5(LRAT):c.239C>T (p.Ala80Val) |
single nucleotide variant |
not provided [RCV001315762] |
Chr4:154744565 [GRCh38] Chr4:155665717 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.382G>C (p.Asp128His) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV002486147]|not provided [RCV001298772] |
Chr4:154744708 [GRCh38] Chr4:155665860 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.632T>G (p.Leu211Trp) |
single nucleotide variant |
not provided [RCV001337519] |
Chr4:154749075 [GRCh38] Chr4:155670227 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.316G>A (p.Ala106Thr) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001376402] |
Chr4:154744642 [GRCh38] Chr4:155665794 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.231C>G (p.Ile77Met) |
single nucleotide variant |
not provided [RCV001359603] |
Chr4:154744557 [GRCh38] Chr4:155665709 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.583G>A (p.Val195Ile) |
single nucleotide variant |
not provided [RCV001360558] |
Chr4:154749026 [GRCh38] Chr4:155670178 [GRCh37] Chr4:4q32.1 |
uncertain significance |
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 |
copy number gain |
not provided [RCV001537926] |
Chr4:131303317..168722402 [GRCh37] Chr4:4q28.3-32.3 |
pathogenic |
NM_004744.5(LRAT):c.569G>A (p.Arg190His) |
single nucleotide variant |
not provided [RCV001299092] |
Chr4:154749012 [GRCh38] Chr4:155670164 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.564T>C (p.Ile188=) |
single nucleotide variant |
not provided [RCV001395552] |
Chr4:154749007 [GRCh38] Chr4:155670159 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.89C>T (p.Ala30Val) |
single nucleotide variant |
not provided [RCV001361086] |
Chr4:154744415 [GRCh38] Chr4:155665567 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.532T>C (p.Ser178Pro) |
single nucleotide variant |
not provided [RCV001327927] |
Chr4:154744858 [GRCh38] Chr4:155666010 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.612G>A (p.Ala204=) |
single nucleotide variant |
not provided [RCV001502303] |
Chr4:154749055 [GRCh38] Chr4:155670207 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.657A>G (p.Ala219=) |
single nucleotide variant |
not provided [RCV001462583] |
Chr4:154749100 [GRCh38] Chr4:155670252 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.72C>T (p.Leu24=) |
single nucleotide variant |
not provided [RCV001489442] |
Chr4:154744398 [GRCh38] Chr4:155665550 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.165G>A (p.Arg55=) |
single nucleotide variant |
not provided [RCV001493321] |
Chr4:154744491 [GRCh38] Chr4:155665643 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.534C>T (p.Ser178=) |
single nucleotide variant |
not provided [RCV001407946] |
Chr4:154744860 [GRCh38] Chr4:155666012 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.603G>A (p.Leu201=) |
single nucleotide variant |
not provided [RCV001452209] |
Chr4:154749046 [GRCh38] Chr4:155670198 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.153G>A (p.Leu51=) |
single nucleotide variant |
not provided [RCV001407115] |
Chr4:154744479 [GRCh38] Chr4:155665631 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.525T>C (p.Ser175=) |
single nucleotide variant |
not provided [RCV001393546] |
Chr4:154744851 [GRCh38] Chr4:155666003 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.224C>T (p.Pro75Leu) |
single nucleotide variant |
Leber congenital amaurosis 14 [RCV001526724] |
Chr4:154744550 [GRCh38] Chr4:155665702 [GRCh37] Chr4:4q32.1 |
likely pathogenic |
NM_004744.5(LRAT):c.12del (p.Met5fs) |
deletion |
not provided [RCV001386113] |
Chr4:154744335 [GRCh38] Chr4:155665487 [GRCh37] Chr4:4q32.1 |
pathogenic |
NM_004744.5(LRAT):c.643A>G (p.Thr215Ala) |
single nucleotide variant |
not provided [RCV001522587] |
Chr4:154749086 [GRCh38] Chr4:155670238 [GRCh37] Chr4:4q32.1 |
benign |
NM_004744.5(LRAT):c.157_159dup (p.Val53dup) |
duplication |
Abnormality of the eye [RCV001814350] |
Chr4:154744481..154744482 [GRCh38] Chr4:155665633..155665634 [GRCh37] Chr4:4q32.1 |
pathogenic |
NM_004744.5(LRAT):c.326G>T (p.Arg109Leu) |
single nucleotide variant |
not provided [RCV002005383] |
Chr4:154744652 [GRCh38] Chr4:155665804 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.608T>A (p.Leu203Ter) |
single nucleotide variant |
not provided [RCV001984451] |
Chr4:154749051 [GRCh38] Chr4:155670203 [GRCh37] Chr4:4q32.1 |
likely pathogenic |
NM_004744.5(LRAT):c.667C>A (p.Pro223Thr) |
single nucleotide variant |
not provided [RCV002005900] |
Chr4:154749110 [GRCh38] Chr4:155670262 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.541T>C (p.Phe181Leu) |
single nucleotide variant |
not provided [RCV001894796] |
Chr4:154748984 [GRCh38] Chr4:155670136 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.374A>G (p.Asn125Ser) |
single nucleotide variant |
not provided [RCV002006307] |
Chr4:154744700 [GRCh38] Chr4:155665852 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.312del (p.Val105fs) |
deletion |
not provided [RCV001872162] |
Chr4:154744636 [GRCh38] Chr4:155665788 [GRCh37] Chr4:4q32.1 |
pathogenic |
NM_004744.5(LRAT):c.314T>A (p.Val105Glu) |
single nucleotide variant |
not provided [RCV002003885] |
Chr4:154744640 [GRCh38] Chr4:155665792 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.550A>T (p.Thr184Ser) |
single nucleotide variant |
not provided [RCV002000462] |
Chr4:154748993 [GRCh38] Chr4:155670145 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.641A>C (p.Tyr214Ser) |
single nucleotide variant |
not provided [RCV001991454] |
Chr4:154749084 [GRCh38] Chr4:155670236 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.644C>G (p.Thr215Ser) |
single nucleotide variant |
not provided [RCV002033587] |
Chr4:154749087 [GRCh38] Chr4:155670239 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.599T>C (p.Val200Ala) |
single nucleotide variant |
not provided [RCV001888399] |
Chr4:154749042 [GRCh38] Chr4:155670194 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.304_306del (p.Ile102del) |
deletion |
not provided [RCV002012786] |
Chr4:154744628..154744630 [GRCh38] Chr4:155665780..155665782 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.149T>C (p.Val50Ala) |
single nucleotide variant |
not provided [RCV002014983] |
Chr4:154744475 [GRCh38] Chr4:155665627 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.531G>T (p.Gln177His) |
single nucleotide variant |
not provided [RCV001977431] |
Chr4:154744857 [GRCh38] Chr4:155666009 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.461A>G (p.Tyr154Cys) |
single nucleotide variant |
not provided [RCV001899509] |
Chr4:154744787 [GRCh38] Chr4:155665939 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.551C>G (p.Thr184Ser) |
single nucleotide variant |
not provided [RCV001979014] |
Chr4:154748994 [GRCh38] Chr4:155670146 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.477C>A (p.Asn159Lys) |
single nucleotide variant |
not provided [RCV001884342] |
Chr4:154744803 [GRCh38] Chr4:155665955 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.562A>C (p.Ile188Leu) |
single nucleotide variant |
not provided [RCV001997872] |
Chr4:154749005 [GRCh38] Chr4:155670157 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.11C>A (p.Pro4His) |
single nucleotide variant |
not provided [RCV001865103] |
Chr4:154744337 [GRCh38] Chr4:155665489 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.497C>G (p.Thr166Ser) |
single nucleotide variant |
not provided [RCV001903561] |
Chr4:154744823 [GRCh38] Chr4:155665975 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.545G>A (p.Cys182Tyr) |
single nucleotide variant |
not provided [RCV001976297] |
Chr4:154748988 [GRCh38] Chr4:155670140 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.359C>G (p.Ala120Gly) |
single nucleotide variant |
not provided [RCV001935292] |
Chr4:154744685 [GRCh38] Chr4:155665837 [GRCh37] Chr4:4q32.1 |
uncertain significance |
NM_004744.5(LRAT):c.198A>C (p.Gly66=) |
single nucleotide variant |
not provided [RCV002107730] |
Chr4:154744524 [GRCh38] Chr4:155665676 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.241C>T (p.Leu81=) |
single nucleotide variant |
not provided [RCV002145909] |
Chr4:154744567 [GRCh38] Chr4:155665719 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.126C>T (p.Thr42=) |
single nucleotide variant |
not provided [RCV002092669] |
Chr4:154744452 [GRCh38] Chr4:155665604 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.213C>T (p.Ala71=) |
single nucleotide variant |
not provided [RCV002082442] |
Chr4:154744539 [GRCh38] Chr4:155665691 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.624T>C (p.Cys208=) |
single nucleotide variant |
not provided [RCV002143638] |
Chr4:154749067 [GRCh38] Chr4:155670219 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.492C>T (p.Phe164=) |
single nucleotide variant |
not provided [RCV002154923] |
Chr4:154744818 [GRCh38] Chr4:155665970 [GRCh37] Chr4:4q32.1 |
likely benign |
NM_004744.5(LRAT):c.83G>A (p.Gly28Asp) |
single nucleotide variant |
not provided [RCV002301497] |
Chr4:154744409 [GRCh38] Chr4:155665561 [GRCh37] Chr4:4q32.1 |
uncertain significance |