NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) |
single nucleotide variant |
AIPL1-Related Disorders [RCV000365317]|Leber congenital amaurosis 4 [RCV000005906]|Leber congenital amaurosis 4 [RCV002496274]|Leber congenital amaurosis [RCV000505017]|Retinal dystrophy [RCV001074840]|not provided [RCV000086235] |
Chr17:6425781 [GRCh38] Chr17:6329101 [GRCh37] Chr17:17p13.2 |
pathogenic|not provided |
NM_014336.5(AIPL1):c.1010_1011del (p.Glu337fs) |
microsatellite |
Leber congenital amaurosis 4 [RCV000005907]|not provided [RCV000086209] |
Chr17:6425604..6425605 [GRCh38] Chr17:6328924..6328925 [GRCh37] Chr17:17p13.2 |
pathogenic|likely pathogenic|not provided |
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000005908]|not provided [RCV000086231] |
Chr17:6426684 [GRCh38] Chr17:6330004 [GRCh37] Chr17:17p13.2 |
pathogenic|not provided |
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) |
deletion |
CONE-ROD DYSTROPHY, AIPL1-RELATED [RCV000005910]|Juvenile retinitis pigmentosa, AIPL1-related [RCV000005909]|Leber congenital amaurosis 4 [RCV001517242]|not provided [RCV000086210]|not specified [RCV002222344] |
Chr17:6425551..6425562 [GRCh38] Chr17:6328871..6328882 [GRCh37] Chr17:17p13.2 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 |
copy number loss |
See cases [RCV000051043] |
Chr17:5732977..8038822 [GRCh38] Chr17:5636297..7942140 [GRCh37] Chr17:5577021..7882865 [NCBI36] Chr17:17p13.2-13.1 |
pathogenic |
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 |
copy number loss |
See cases [RCV000053406] |
Chr17:3601515..7178024 [GRCh38] Chr17:3504809..7081343 [GRCh37] Chr17:3451558..7022067 [NCBI36] Chr17:17p13.2-13.1 |
pathogenic |
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] |
Chr17:6307904..8842949 [GRCh38] Chr17:6211224..8746266 [GRCh37] Chr17:6151948..8686991 [NCBI36] Chr17:17p13.2-13.1 |
pathogenic |
NM_014336.4(AIPL1):c.247G>A (p.Glu83Lys) |
single nucleotide variant |
Malignant melanoma [RCV000071626] |
Chr17:6433948 [GRCh38] Chr17:6337268 [GRCh37] Chr17:6277992 [NCBI36] Chr17:17p13.2 |
not provided |
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000055938]|Leber congenital amaurosis 4 [RCV002496741]|Retinitis Pigmentosa, Dominant [RCV000348234]|Retinitis pigmentosa [RCV000293349]|not provided [RCV000086212]|not specified [RCV000179481] |
Chr17:6425489 [GRCh38] Chr17:6328809 [GRCh37] Chr17:17p13.2 |
pathogenic|benign|likely benign|not provided |
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000055939]|not provided [RCV000086228] |
Chr17:6426934 [GRCh38] Chr17:6330254 [GRCh37] Chr17:17p13.2 |
pathogenic|not provided |
NM_014336.5(AIPL1):c.617T>A (p.Ile206Asn) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000055940]|not provided [RCV000086229] |
Chr17:6426906 [GRCh38] Chr17:6330226 [GRCh37] Chr17:17p13.2 |
pathogenic|not provided |
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000055941]|not provided [RCV000086234] |
Chr17:6426615 [GRCh38] Chr17:6329935 [GRCh37] Chr17:17p13.2 |
pathogenic|likely pathogenic|not provided |
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) |
single nucleotide variant |
Leber congenital amaurosis 1 [RCV000989684]|Leber congenital amaurosis 4 [RCV000055942]|not provided [RCV000086236]|not specified [RCV000179479] |
Chr17:6425710 [GRCh38] Chr17:6329030 [GRCh37] Chr17:17p13.2 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_014336.5(AIPL1):c.157C>T (p.Arg53Trp) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001222809]|Retinal dystrophy [RCV001075284]|not provided [RCV000086213] |
Chr17:6434038 [GRCh38] Chr17:6337358 [GRCh37] Chr17:17p13.2 |
uncertain significance|not provided |
NM_014336.5(AIPL1):c.234C>T (p.Ser78=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001078533]|Retinitis pigmentosa [RCV001125502]|not provided [RCV000086214]|not specified [RCV000363858] |
Chr17:6433961 [GRCh38] Chr17:6337281 [GRCh37] Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_014336.5(AIPL1):c.236T>C (p.Met79Thr) |
single nucleotide variant |
not provided [RCV000086215] |
Chr17:6433959 [GRCh38] Chr17:6337279 [GRCh37] Chr17:17p13.2 |
not provided |
NM_014336.5(AIPL1):c.264G>A (p.Trp88Ter) |
single nucleotide variant |
not provided [RCV000086216] |
Chr17:6433931 [GRCh38] Chr17:6337251 [GRCh37] Chr17:17p13.2 |
not provided |
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) |
single nucleotide variant |
Leber congenital amaurosis 1 [RCV000989686]|Leber congenital amaurosis 4 [RCV000294049]|Leber congenital amaurosis 4 [RCV002483169]|Retinitis Pigmentosa, Dominant [RCV000350965]|Retinitis pigmentosa [RCV000385931]|not provided [RCV000086217]|not specified [RCV000242515] |
Chr17:6433927 [GRCh38] Chr17:6337247 [GRCh37] Chr17:17p13.2 |
benign|likely benign|not provided |
NM_014336.5(AIPL1):c.276+66G>C |
single nucleotide variant |
not provided [RCV000086218] |
Chr17:6433853 [GRCh38] Chr17:6337173 [GRCh37] Chr17:17p13.2 |
not provided |
NM_014336.5(AIPL1):c.277-10A>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000379141]|Leber congenital amaurosis 4 [RCV002498463]|Retinitis Pigmentosa, Recessive [RCV000268231]|Retinitis pigmentosa [RCV000316455]|not provided [RCV000086219]|not specified [RCV000152751] |
Chr17:6428516 [GRCh38] Chr17:6331836 [GRCh37] Chr17:17p13.2 |
benign|likely benign|not provided |
NM_014336.5(AIPL1):c.277-14G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000373374]|Retinitis Pigmentosa, Recessive [RCV000338386]|Retinitis pigmentosa [RCV000280978]|not provided [RCV000086220] |
Chr17:6428520 [GRCh38] Chr17:6331840 [GRCh37] Chr17:17p13.2 |
benign|likely benign|not provided |
NM_014336.5(AIPL1):c.277-2A>G |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001172395]|not provided [RCV000086221] |
Chr17:6428508 [GRCh38] Chr17:6331828 [GRCh37] Chr17:17p13.2 |
pathogenic|not provided |
NM_014336.5(AIPL1):c.277-88C>T |
single nucleotide variant |
not provided [RCV000086222] |
Chr17:6428594 [GRCh38] Chr17:6331914 [GRCh37] Chr17:17p13.2 |
not provided |
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000322310]|Leber congenital amaurosis 4 [RCV002498464]|Lissencephaly due to TUBA1A mutation [RCV001258272]|not provided [RCV000086223]|not specified [RCV000152750] |
Chr17:6428497 [GRCh38] Chr17:6331817 [GRCh37] Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001081325]|Leber congenital amaurosis 4 [RCV002498465]|Retinitis Pigmentosa, Recessive [RCV000300344]|Retinitis pigmentosa [RCV000395155]|not provided [RCV000086224]|not specified [RCV000393732] |
Chr17:6428442 [GRCh38] Chr17:6331762 [GRCh37] Chr17:17p13.2 |
benign|likely benign|not provided |
NM_014336.5(AIPL1):c.466-22T>C |
single nucleotide variant |
not provided [RCV000086225] |
Chr17:6427079 [GRCh38] Chr17:6330399 [GRCh37] Chr17:17p13.2 |
not provided |
NM_014336.5(AIPL1):c.466-25C>T |
single nucleotide variant |
not provided [RCV000086226] |
Chr17:6427082 [GRCh38] Chr17:6330402 [GRCh37] Chr17:17p13.2 |
not provided |
NM_014336.5(AIPL1):c.487C>T (p.Gln163Ter) |
single nucleotide variant |
not provided [RCV000086227] |
Chr17:6427036 [GRCh38] Chr17:6330356 [GRCh37] Chr17:17p13.2 |
pathogenic|not provided |
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000382157]|Retinitis Pigmentosa, Dominant [RCV000287948]|Retinitis pigmentosa [RCV000347625]|not provided [RCV000086230]|not specified [RCV000251766] |
Chr17:6426748 [GRCh38] Chr17:6330068 [GRCh37] Chr17:17p13.2 |
benign|likely benign|not provided |
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001085755]|Retinitis Pigmentosa, Dominant [RCV000353479]|Retinitis Pigmentosa, Recessive [RCV000263430]|not provided [RCV000086232] |
Chr17:6426634 [GRCh38] Chr17:6329954 [GRCh37] Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_014336.5(AIPL1):c.784+18G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001516093]|not provided [RCV000086233]|not specified [RCV000243988] |
Chr17:6426597 [GRCh38] Chr17:6329917 [GRCh37] Chr17:17p13.2 |
benign|not provided |
NM_014336.5(AIPL1):c.97-9G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001080115]|Retinitis Pigmentosa, Dominant [RCV000360989]|Retinitis Pigmentosa, Recessive [RCV000303893]|not provided [RCV000086237]|not specified [RCV001699204] |
Chr17:6434107 [GRCh38] Chr17:6337427 [GRCh37] Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000310197]|Retinitis Pigmentosa, Dominant [RCV000393168]|Retinitis Pigmentosa, Recessive [RCV000358078]|not provided [RCV000086211] |
Chr17:6434084 [GRCh38] Chr17:6337404 [GRCh37] Chr17:17p13.2 |
benign|likely benign|not provided |
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001125501]|Retinitis pigmentosa [RCV001125500]|not provided [RCV000081612] |
Chr17:6433951 [GRCh38] Chr17:6337271 [GRCh37] Chr17:17p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001080955]|Retinitis Pigmentosa, Dominant [RCV000345097]|Retinitis Pigmentosa, Recessive [RCV000306547]|not provided [RCV000081613]|not specified [RCV000259077] |
Chr17:6433928 [GRCh38] Chr17:6337248 [GRCh37] Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_014336.5(AIPL1):c.516T>C (p.His172=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001086330]|Retinitis Pigmentosa, Recessive [RCV000311702]|Retinitis pigmentosa [RCV000371077]|not provided [RCV000081614]|not specified [RCV001001388] |
Chr17:6427007 [GRCh38] Chr17:6330327 [GRCh37] Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001085684]|not provided [RCV000086968]|not specified [RCV001699038] |
Chr17:6425678 [GRCh38] Chr17:6328998 [GRCh37] Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
Single allele |
single nucleotide variant |
not provided [RCV000171483] |
Chr17:6337336 [GRCh37] Chr17:17p13.2 |
likely pathogenic |
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) |
single nucleotide variant |
Leber congenital amaurosis 1 [RCV000989685]|Leber congenital amaurosis 4 [RCV001082876]|not provided [RCV000487555]|not specified [RCV000177283] |
Chr17:6428382 [GRCh38] Chr17:6331702 [GRCh37] Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 |
copy number loss |
See cases [RCV000134135] |
Chr17:162088..6959050 [GRCh38] Chr17:45835..6862369 [GRCh37] Chr17:11879..6803093 [NCBI36] Chr17:17p13.3-13.1 |
pathogenic |
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 |
copy number gain |
See cases [RCV000134970] |
Chr17:198748..7491129 [GRCh38] Chr17:50690..7394448 [GRCh37] Chr17:48539..7335172 [NCBI36] Chr17:17p13.3-13.1 |
pathogenic |
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 |
copy number gain |
See cases [RCV000134851] |
Chr17:5732953..12095349 [GRCh38] Chr17:5636273..11998666 [GRCh37] Chr17:5576997..11939391 [NCBI36] Chr17:17p13.2-12 |
pathogenic |
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 |
copy number loss |
See cases [RCV000138214] |
Chr17:162016..7697012 [GRCh38] Chr17:45835..7600330 [GRCh37] Chr17:11807..7541055 [NCBI36] Chr17:17p13.3-13.1 |
pathogenic |
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 |
copy number gain |
See cases [RCV000138220] |
Chr17:6361393..7750863 [GRCh38] Chr17:6264713..7654181 [GRCh37] Chr17:6205437..7594906 [NCBI36] Chr17:17p13.2-13.1 |
likely pathogenic |
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 |
copy number gain |
See cases [RCV000138531] |
Chr17:162016..12343901 [GRCh38] Chr17:45835..12247218 [GRCh37] Chr17:11807..12187943 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 |
copy number gain |
See cases [RCV000142236] |
Chr17:150732..14764202 [GRCh38] Chr17:525..14667519 [GRCh37] Chr17:525..14608244 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000264832]|Retinitis Pigmentosa, Recessive [RCV000309547]|Retinitis pigmentosa [RCV000366518]|not provided [RCV001706008]|not specified [RCV000152749] |
Chr17:6428483 [GRCh38] Chr17:6331803 [GRCh37] Chr17:17p13.2 |
benign|likely benign |
NM_014336.5(AIPL1):c.453C>T (p.Ile151=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001475204]|not provided [RCV000152748] |
Chr17:6428330 [GRCh38] Chr17:6331650 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001085552]|not provided [RCV000723947]|not specified [RCV000152763] |
Chr17:6425609 [GRCh38] Chr17:6328929 [GRCh37] Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.880G>C (p.Glu294Gln) |
single nucleotide variant |
not provided [RCV000152764] |
Chr17:6425735 [GRCh38] Chr17:6329055 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.864G>C (p.Gln288His) |
single nucleotide variant |
not provided [RCV000179478] |
Chr17:6425751 [GRCh38] Chr17:6329071 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000765381]|Leber congenital amaurosis 4 [RCV001080307]|Retinitis pigmentosa [RCV001124292]|not provided [RCV000723621] |
Chr17:6425644 [GRCh38] Chr17:6328964 [GRCh37] Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.318G>A (p.Gln106=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001086100]|not provided [RCV000177280] |
Chr17:6428465 [GRCh38] Chr17:6331785 [GRCh37] Chr17:17p13.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.373A>G (p.Asn125Asp) |
single nucleotide variant |
not provided [RCV000177281] |
Chr17:6428410 [GRCh38] Chr17:6331730 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000270871]|Retinitis Pigmentosa, Recessive [RCV000363323]|Retinitis pigmentosa [RCV000313294]|not provided [RCV000177282] |
Chr17:6428478 [GRCh38] Chr17:6331798 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1004C>A (p.Pro335His) |
single nucleotide variant |
Abnormality of neuronal migration [RCV000201363] |
Chr17:6425611 [GRCh38] Chr17:6328931 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.-17C>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000382676]|Retinitis Pigmentosa, Dominant [RCV000325640]|Retinitis Pigmentosa, Recessive [RCV000296424]|not specified [RCV000251131] |
Chr17:6435121 [GRCh38] Chr17:6338441 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000300735]|Retinitis Pigmentosa, Dominant [RCV000400033]|Retinitis Pigmentosa, Recessive [RCV000355535] |
Chr17:6426907 [GRCh38] Chr17:6330227 [GRCh37] Chr17:17p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.*606G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000322501]|Retinitis Pigmentosa, Recessive [RCV000356241]|Retinitis pigmentosa [RCV000265089] |
Chr17:6424854 [GRCh38] Chr17:6328174 [GRCh37] Chr17:17p13.2 |
benign|likely benign |
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000343358]|Retinal dystrophy [RCV001074745]|Retinitis Pigmentosa, Recessive [RCV000379251]|Retinitis pigmentosa [RCV000283711]|not specified [RCV003226280] |
Chr17:6428406 [GRCh38] Chr17:6331726 [GRCh37] Chr17:17p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.4(AIPL1):c.-52G>T |
single nucleotide variant |
Leber congenital amaurosis [RCV000342003]|Retinitis Pigmentosa, Dominant [RCV000284684]|Retinitis Pigmentosa, Recessive [RCV000396827] |
Chr17:6435156 [GRCh38] Chr17:6338476 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1007C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000359818]|Retinitis Pigmentosa, Dominant [RCV000320443]|Retinitis Pigmentosa, Recessive [RCV000267562] |
Chr17:6424453 [GRCh38] Chr17:6327773 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*150_*151insCAA |
insertion |
Leber congenital amaurosis [RCV000379598]|Retinitis Pigmentosa, Dominant [RCV000285248]|Retinitis Pigmentosa, Recessive [RCV000339053] |
Chr17:6425309..6425310 [GRCh38] Chr17:6328629..6328630 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1009A>G |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000366044]|Retinitis Pigmentosa, Dominant [RCV000268743]|Retinitis pigmentosa [RCV000326180] |
Chr17:6424451 [GRCh38] Chr17:6327771 [GRCh37] Chr17:17p13.2 |
benign|likely benign |
NM_014336.5(AIPL1):c.*134G>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000306814]|Retinitis Pigmentosa, Dominant [RCV000270465]|Retinitis Pigmentosa, Recessive [RCV000369874] |
Chr17:6425326 [GRCh38] Chr17:6328646 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.5(AIPL1):c.*1391C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000345883]|Retinitis Pigmentosa, Recessive [RCV000288480]|Retinitis pigmentosa [RCV000395920] |
Chr17:6424069 [GRCh38] Chr17:6327389 [GRCh37] Chr17:17p13.2 |
benign|likely benign |
NM_014336.5(AIPL1):c.*1202C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000381014]|Retinitis Pigmentosa, Recessive [RCV000289361]|Retinitis pigmentosa [RCV000328699] |
Chr17:6424258 [GRCh38] Chr17:6327578 [GRCh37] Chr17:17p13.2 |
benign|likely benign |
NM_014336.5(AIPL1):c.*1229C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000386696]|Retinitis Pigmentosa, Dominant [RCV000271286]|Retinitis pigmentosa [RCV000329747] |
Chr17:6424231 [GRCh38] Chr17:6327551 [GRCh37] Chr17:17p13.2 |
benign|likely benign |
NM_014336.5(AIPL1):c.*53C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000322446]|Retinitis Pigmentosa, Dominant [RCV000366287]|Retinitis Pigmentosa, Recessive [RCV000271709] |
Chr17:6425407 [GRCh38] Chr17:6328727 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*221G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000347294]|Retinitis Pigmentosa, Dominant [RCV000380964]|Retinitis Pigmentosa, Recessive [RCV000289957] |
Chr17:6425239 [GRCh38] Chr17:6328559 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.4(AIPL1):c.-21A>G |
single nucleotide variant |
Leber congenital amaurosis [RCV000402533]|Retinitis Pigmentosa, Dominant [RCV000347653]|Retinitis Pigmentosa, Recessive [RCV000290629] |
Chr17:6435125 [GRCh38] Chr17:6338445 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1289G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000356474]|Retinitis Pigmentosa, Dominant [RCV000300237]|Retinitis Pigmentosa, Recessive [RCV000259320] |
Chr17:6424171 [GRCh38] Chr17:6327491 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002523002]|Leber congenital amaurosis 4 [RCV001047506]|Leber congenital amaurosis 4 [RCV002487427]|Retinitis Pigmentosa, Dominant [RCV000344923]|Retinitis pigmentosa [RCV000394165]|not provided [RCV000591606] |
Chr17:6425507 [GRCh38] Chr17:6328827 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1550A>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000296016]|Retinitis Pigmentosa, Dominant [RCV000387971]|Retinitis Pigmentosa, Recessive [RCV000348629] |
Chr17:6423910 [GRCh38] Chr17:6327230 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1165C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000395458]|Retinitis Pigmentosa, Recessive [RCV000278527]|Retinitis pigmentosa [RCV000340681] |
Chr17:6424295 [GRCh38] Chr17:6327615 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1568G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000278604]|Retinitis Pigmentosa, Dominant [RCV000375448]|Retinitis Pigmentosa, Recessive [RCV000335969] |
Chr17:6423892 [GRCh38] Chr17:6327212 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.*23C>G |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000279179]|Retinitis Pigmentosa, Dominant [RCV000373713]|Retinitis pigmentosa [RCV000320060] |
Chr17:6425437 [GRCh38] Chr17:6328757 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*390G>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000263799]|Retinitis Pigmentosa, Dominant [RCV000316870]|Retinitis Pigmentosa, Recessive [RCV000387721] |
Chr17:6425070 [GRCh38] Chr17:6328390 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.5(AIPL1):c.359C>T (p.Thr120Met) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000280130]|Retinitis Pigmentosa, Dominant [RCV000395151]|Retinitis pigmentosa [RCV000335395] |
Chr17:6428424 [GRCh38] Chr17:6331744 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*887CAAAA[2] |
microsatellite |
Leber congenital amaurosis [RCV000280614]|Retinitis Pigmentosa, Dominant [RCV000319335]|Retinitis Pigmentosa, Recessive [RCV000377368] |
Chr17:6424559..6424563 [GRCh38] Chr17:6327879..6327883 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*33A>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000323472]|Retinitis Pigmentosa, Dominant [RCV000268379]|Retinitis Pigmentosa, Recessive [RCV000358585] |
Chr17:6425427 [GRCh38] Chr17:6328747 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.*748C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000397440]|Retinitis Pigmentosa, Dominant [RCV000310392]|Retinitis Pigmentosa, Recessive [RCV000363150] |
Chr17:6424712 [GRCh38] Chr17:6328032 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1101T>C (p.Pro367=) |
single nucleotide variant |
not provided [RCV000306161] |
Chr17:6425514 [GRCh38] Chr17:6328834 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.389A>G (p.His130Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000377895]|Retinitis Pigmentosa, Recessive [RCV000272805]|Retinitis pigmentosa [RCV000327933] |
Chr17:6428394 [GRCh38] Chr17:6331714 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.414C>T (p.Asp138=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000326868]|Retinitis Pigmentosa, Recessive [RCV000276531]|Retinitis pigmentosa [RCV000381302] |
Chr17:6428369 [GRCh38] Chr17:6331689 [GRCh37] Chr17:17p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.*1237C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000369144]|Retinitis Pigmentosa, Dominant [RCV000277065]|Retinitis Pigmentosa, Recessive [RCV000298029] |
Chr17:6424223 [GRCh38] Chr17:6327543 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.5(AIPL1):c.*1018G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000314975]|Retinitis Pigmentosa, Recessive [RCV000398439]|Retinitis pigmentosa [RCV000335893] |
Chr17:6424442 [GRCh38] Chr17:6327762 [GRCh37] Chr17:17p13.2 |
benign|likely benign |
NM_014336.5(AIPL1):c.*824G>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000372318]|Retinitis Pigmentosa, Dominant [RCV000351354]|Retinitis Pigmentosa, Recessive [RCV000280028] |
Chr17:6424636 [GRCh38] Chr17:6327956 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.5(AIPL1):c.*730dup |
duplication |
Leber congenital amaurosis [RCV000362111]|Retinitis Pigmentosa, Dominant [RCV000305002]|Retinitis Pigmentosa, Recessive [RCV000398404] |
Chr17:6424729..6424730 [GRCh38] Chr17:6328049..6328050 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*153_*154del |
deletion |
Leber congenital amaurosis [RCV000262029]|Retinitis Pigmentosa, Dominant [RCV000357023]|Retinitis Pigmentosa, Recessive [RCV000297569] |
Chr17:6425306..6425307 [GRCh38] Chr17:6328626..6328627 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1534G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000307442]|Retinitis Pigmentosa, Dominant [RCV000402337]|Retinitis pigmentosa [RCV000360051] |
Chr17:6423926 [GRCh38] Chr17:6327246 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1178C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000283429]|Retinitis Pigmentosa, Dominant [RCV000323291]|Retinitis Pigmentosa, Recessive [RCV000380213] |
Chr17:6424282 [GRCh38] Chr17:6327602 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.5(AIPL1):c.*1658T>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000284526]|Retinitis Pigmentosa, Recessive [RCV000376687]|Retinitis pigmentosa [RCV000318426] |
Chr17:6423802 [GRCh38] Chr17:6327122 [GRCh37] Chr17:17p13.2 |
benign|likely benign |
NM_014336.5(AIPL1):c.*151_*152del |
deletion |
Leber congenital amaurosis [RCV000283915]|Retinitis Pigmentosa, Dominant [RCV000328866]|Retinitis Pigmentosa, Recessive [RCV000383056]|not provided [RCV001613046] |
Chr17:6425308..6425309 [GRCh38] Chr17:6328628..6328629 [GRCh37] Chr17:17p13.2 |
benign|likely benign |
NM_014336.5(AIPL1):c.642+14G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000403542]|Retinitis Pigmentosa, Dominant [RCV000339003]|Retinitis Pigmentosa, Recessive [RCV000284443] |
Chr17:6426867 [GRCh38] Chr17:6330187 [GRCh37] Chr17:17p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.73C>A (p.Pro25Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000263168]|Retinitis Pigmentosa, Recessive [RCV000386776]|Retinitis pigmentosa [RCV000329909] |
Chr17:6435032 [GRCh38] Chr17:6338352 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1455G>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000263638]|Retinitis Pigmentosa, Recessive [RCV000316539]|Retinitis pigmentosa [RCV000373551] |
Chr17:6424005 [GRCh38] Chr17:6327325 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1017C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000367076]|Retinitis Pigmentosa, Recessive [RCV000399464]|Retinitis pigmentosa [RCV000309069] |
Chr17:6424443 [GRCh38] Chr17:6327763 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1090G>T (p.Ala364Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002522041]|Leber congenital amaurosis 4 [RCV001123202]|Retinitis pigmentosa [RCV001123201]|not provided [RCV000285726] |
Chr17:6425525 [GRCh38] Chr17:6328845 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*188G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000395852]|Retinitis Pigmentosa, Dominant [RCV000340884]|Retinitis Pigmentosa, Recessive [RCV000290656] |
Chr17:6425272 [GRCh38] Chr17:6328592 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.5(AIPL1):c.*280G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000276981]|Retinitis Pigmentosa, Dominant [RCV000329669]|Retinitis pigmentosa [RCV000386620] |
Chr17:6425180 [GRCh38] Chr17:6328500 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1444G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000385959]|Retinitis Pigmentosa, Recessive [RCV000333834]|Retinitis pigmentosa [RCV000276429] |
Chr17:6424016 [GRCh38] Chr17:6327336 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*753G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000292827]|Retinitis Pigmentosa, Recessive [RCV000399064]|Retinitis pigmentosa [RCV000350129] |
Chr17:6424707 [GRCh38] Chr17:6328027 [GRCh37] Chr17:17p13.2 |
benign|likely benign |
NM_014336.5(AIPL1):c.*153del |
deletion |
Leber congenital amaurosis [RCV000312577]|Retinitis Pigmentosa, Dominant [RCV000277185]|Retinitis Pigmentosa, Recessive [RCV000367277] |
Chr17:6425307 [GRCh38] Chr17:6328627 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.97-15C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000355617]|Retinitis Pigmentosa, Dominant [RCV000259688]|Retinitis Pigmentosa, Recessive [RCV000317213] |
Chr17:6434113 [GRCh38] Chr17:6337433 [GRCh37] Chr17:17p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000981801]|Retinal dystrophy [RCV001075005]|Retinitis Pigmentosa, Dominant [RCV000385713]|Retinitis pigmentosa [RCV000332251]|not provided [RCV003456394] |
Chr17:6426662 [GRCh38] Chr17:6329982 [GRCh37] Chr17:17p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.4(AIPL1):c.-73A>G |
single nucleotide variant |
Leber congenital amaurosis [RCV000396815]|Retinitis Pigmentosa, Dominant [RCV000297859]|Retinitis Pigmentosa, Recessive [RCV000354948] |
Chr17:6435177 [GRCh38] Chr17:6338497 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1679G>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000324425]|Retinitis Pigmentosa, Recessive [RCV000267023]|Retinitis pigmentosa [RCV000362517] |
Chr17:6423781 [GRCh38] Chr17:6327101 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1459G>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000358912]|Retinitis Pigmentosa, Recessive [RCV000301797]|Retinitis pigmentosa [RCV000267649] |
Chr17:6424001 [GRCh38] Chr17:6327321 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.785-11G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000302382]|Retinitis Pigmentosa, Dominant [RCV000398512]|Retinitis pigmentosa [RCV000310663] |
Chr17:6425841 [GRCh38] Chr17:6329161 [GRCh37] Chr17:17p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.780C>T (p.His260=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001087156]|Retinitis Pigmentosa, Dominant [RCV000361638]|Retinitis Pigmentosa, Recessive [RCV000267113]|not provided [RCV000878128] |
Chr17:6426619 [GRCh38] Chr17:6329939 [GRCh37] Chr17:17p13.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.639C>T (p.Thr213=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000303996]|Retinitis Pigmentosa, Dominant [RCV000354189]|Retinitis pigmentosa [RCV000397145] |
Chr17:6426884 [GRCh38] Chr17:6330204 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*151_*152dup |
duplication |
Leber congenital amaurosis [RCV000382345]|Retinitis Pigmentosa, Dominant [RCV000332498]|Retinitis Pigmentosa, Recessive [RCV000269108]|not provided [RCV001653583] |
Chr17:6425307..6425308 [GRCh38] Chr17:6328627..6328628 [GRCh37] Chr17:17p13.2 |
benign|uncertain significance |
NM_014336.5(AIPL1):c.276C>T (p.Ile92=) |
single nucleotide variant |
not provided [RCV000487954] |
Chr17:6433919 [GRCh38] Chr17:6337239 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001081379]|not provided [RCV000488128]|not specified [RCV001700132] |
Chr17:6434055 [GRCh38] Chr17:6337375 [GRCh37] Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.4(AIPL1):c.-106C>A |
single nucleotide variant |
Leber congenital amaurosis [RCV000362976]|Retinitis Pigmentosa, Dominant [RCV000406818]|Retinitis Pigmentosa, Recessive [RCV000308327]|not provided [RCV001613255] |
Chr17:6435210 [GRCh38] Chr17:6338530 [GRCh37] Chr17:17p13.2 |
benign|likely benign |
NM_014336.5(AIPL1):c.*147A>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000315151]|Retinitis Pigmentosa, Recessive [RCV000395561]|Retinitis pigmentosa [RCV000350291] |
Chr17:6425313 [GRCh38] Chr17:6328633 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1398G>A |
single nucleotide variant |
Leber congenital amaurosis [RCV000293904]|Retinitis Pigmentosa, Dominant [RCV000346532]|Retinitis Pigmentosa, Recessive [RCV000385234] |
Chr17:6424062 [GRCh38] Chr17:6327382 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*153_*155del |
deletion |
Leber congenital amaurosis [RCV000305856]|Retinitis Pigmentosa, Dominant [RCV000401270]|Retinitis Pigmentosa, Recessive [RCV000341931] |
Chr17:6425305..6425307 [GRCh38] Chr17:6328625..6328627 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1335A>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000305981]|Retinitis Pigmentosa, Recessive [RCV000339846]|Retinitis pigmentosa [RCV000390478] |
Chr17:6424125 [GRCh38] Chr17:6327445 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1537C>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000308673]|Retinitis Pigmentosa, Dominant [RCV000347167]|Retinitis pigmentosa [RCV000389922] |
Chr17:6423923 [GRCh38] Chr17:6327243 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.4(AIPL1):c.-107C>G |
single nucleotide variant |
Leber congenital amaurosis [RCV000368966]|Retinitis Pigmentosa, Dominant [RCV000274581]|Retinitis Pigmentosa, Recessive [RCV000309574] |
Chr17:6435211 [GRCh38] Chr17:6338531 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.*150A>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000300673]|Retinitis Pigmentosa, Dominant [RCV000395557]|Retinitis pigmentosa [RCV000335638] |
Chr17:6425310 [GRCh38] Chr17:6328630 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.2-13.1(chr17:6240267-6748728)x3 |
copy number gain |
See cases [RCV000449261] |
Chr17:6240267..6748728 [GRCh37] Chr17:17p13.2-13.1 |
uncertain significance |
NM_014336.5(AIPL1):c.796G>T (p.Ala266Ser) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001350244]|not provided [RCV000445028] |
Chr17:6425819 [GRCh38] Chr17:6329139 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.112C>T (p.Arg38Cys) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001861487]|not provided [RCV000431163]|not specified [RCV003330664] |
Chr17:6434083 [GRCh38] Chr17:6337403 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) |
copy number gain |
See cases [RCV000445679] |
Chr17:1113102..6742486 [GRCh37] Chr17:17p13.3-13.1 |
pathogenic |
GRCh37/hg19 17p13.2(chr17:5871307-6472074)x4 |
copy number gain |
See cases [RCV000510263] |
Chr17:5871307..6472074 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 |
copy number gain |
See cases [RCV000511786] |
Chr17:525..15027737 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_014336.5(AIPL1):c.146T>C (p.Ile49Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003117366]|not provided [RCV000598251] |
Chr17:6434049 [GRCh38] Chr17:6337369 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 |
copy number gain |
not provided [RCV000683866] |
Chr17:525..11186432 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000685799]|Leber congenital amaurosis [RCV001199638] |
Chr17:6433957 [GRCh38] Chr17:6337277 [GRCh37] Chr17:17p13.2 |
pathogenic|likely pathogenic|uncertain significance |
NC_000017.10:g.(?_6328760)_(6616672_?)del |
deletion |
Developmental and epileptic encephalopathy, 25 [RCV000708070]|Leber congenital amaurosis 4 [RCV001386952] |
Chr17:6328760..6616672 [GRCh37] Chr17:17p13.2-13.1 |
pathogenic |
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000696451] |
Chr17:6433930 [GRCh38] Chr17:6337250 [GRCh37] Chr17:17p13.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_014336.5(AIPL1):c.276+6T>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000754587] |
Chr17:6433913 [GRCh38] Chr17:6337233 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.857A>T (p.Asp286Val) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000754586] |
Chr17:6425758 [GRCh38] Chr17:6329078 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.97-276_97-274dup |
duplication |
not provided [RCV001665900] |
Chr17:6434356..6434357 [GRCh38] Chr17:6337676..6337677 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.276+298T>A |
single nucleotide variant |
not provided [RCV001691595] |
Chr17:6433621 [GRCh38] Chr17:6336941 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.465+301T>C |
single nucleotide variant |
not provided [RCV001679512] |
Chr17:6428017 [GRCh38] Chr17:6331337 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001172386]|Leber congenital amaurosis [RCV001002865] |
Chr17:6433984 [GRCh38] Chr17:6337304 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.578G>A (p.Arg193His) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001066996] |
Chr17:6426945 [GRCh38] Chr17:6330265 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.643-33C>T |
single nucleotide variant |
not provided [RCV001668673] |
Chr17:6426789 [GRCh38] Chr17:6330109 [GRCh37] Chr17:17p13.2 |
benign |
GRCh37/hg19 17p13.2-13.1(chr17:5892651-6850368)x3 |
copy number gain |
not provided [RCV000751911] |
Chr17:5892651..6850368 [GRCh37] Chr17:17p13.2-13.1 |
uncertain significance |
NM_014336.5(AIPL1):c.98T>C (p.Val33Ala) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000878669] |
Chr17:6434097 [GRCh38] Chr17:6337417 [GRCh37] Chr17:17p13.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_014336.5(AIPL1):c.33G>C (p.Gly11=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000950571]|Retinitis pigmentosa [RCV001123502] |
Chr17:6435072 [GRCh38] Chr17:6338392 [GRCh37] Chr17:17p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.642+10C>T |
single nucleotide variant |
not provided [RCV000906320] |
Chr17:6426871 [GRCh38] Chr17:6330191 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.627G>A (p.Arg209=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000877851]|not provided [RCV001565523]|not specified [RCV001701462] |
Chr17:6426896 [GRCh38] Chr17:6330216 [GRCh37] Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001376195]|Retinal dystrophy [RCV001075646] |
Chr17:6434005 [GRCh38] Chr17:6337325 [GRCh37] Chr17:17p13.2 |
likely pathogenic |
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) |
single nucleotide variant |
Leber congenital amaurosis [RCV000787530] |
Chr17:6428318 [GRCh38] Chr17:6331638 [GRCh37] Chr17:17p13.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter) |
single nucleotide variant |
AIPL1-Related Disorders [RCV000778508]|Leber congenital amaurosis [RCV002509532] |
Chr17:6425630 [GRCh38] Chr17:6328950 [GRCh37] Chr17:17p13.2 |
likely pathogenic|uncertain significance |
NM_014336.5(AIPL1):c.94C>T (p.Arg32Ter) |
single nucleotide variant |
AIPL1-Related Disorders [RCV000778509]|Leber congenital amaurosis 4 [RCV001390292] |
Chr17:6435011 [GRCh38] Chr17:6338331 [GRCh37] Chr17:17p13.2 |
pathogenic|uncertain significance |
NM_014336.5(AIPL1):c.117C>A (p.Thr39=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001471492] |
Chr17:6434078 [GRCh38] Chr17:6337398 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.78C>T (p.Asn26=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002540132] |
Chr17:6435027 [GRCh38] Chr17:6338347 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.294del (p.Ile99fs) |
deletion |
Cone-rod dystrophy 2 [RCV000790980]|Leber congenital amaurosis 4 [RCV000790981]|Retinitis pigmentosa [RCV000790979] |
Chr17:6428489 [GRCh38] Chr17:6331809 [GRCh37] Chr17:17p13.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 17p13.2-13.1(chr17:6246288-6558011)x3 |
copy number gain |
not provided [RCV000847641] |
Chr17:6246288..6558011 [GRCh37] Chr17:17p13.2-13.1 |
uncertain significance |
NM_014336.5(AIPL1):c.643-5G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001044535] |
Chr17:6426761 [GRCh38] Chr17:6330081 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.5(AIPL1):c.1111_1122dup (p.Ala371_Pro374dup) |
duplication |
Leber congenital amaurosis 4 [RCV001045400] |
Chr17:6425492..6425493 [GRCh38] Chr17:6328812..6328813 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.4:c.(?_-1)_(276+1_277-1)del |
deletion |
Leber congenital amaurosis [RCV000787751] |
Chr17:17p13.2 |
likely pathogenic |
NM_014336.5(AIPL1):c.643-9C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001858560] |
Chr17:6426765 [GRCh38] Chr17:6330085 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro) |
single nucleotide variant |
Leber congenital amaurosis [RCV000787531] |
Chr17:6425800 [GRCh38] Chr17:6329120 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.730GAG[1] (p.Glu245del) |
microsatellite |
Leber congenital amaurosis [RCV000787782] |
Chr17:6426664..6426666 [GRCh38] Chr17:6329984..6329986 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.571C>T (p.Leu191=) |
single nucleotide variant |
not provided [RCV000898190] |
Chr17:6426952 [GRCh38] Chr17:6330272 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.582C>G (p.Tyr194Ter) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001172389] |
Chr17:6426941 [GRCh38] Chr17:6330261 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.1052C>T (p.Pro351Leu) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001226961] |
Chr17:6425563 [GRCh38] Chr17:6328883 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.562C>T (p.Leu188Phe) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001125407]|Retinitis pigmentosa [RCV001124404]|not provided [RCV000996469] |
Chr17:6426961 [GRCh38] Chr17:6330281 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.34dup (p.Val12fs) |
duplication |
Leber congenital amaurosis [RCV001199639] |
Chr17:6435070..6435071 [GRCh38] Chr17:6338390..6338391 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.104_105insG (p.Phe35fs) |
insertion |
Leber congenital amaurosis 4 [RCV001172385] |
Chr17:6434090..6434091 [GRCh38] Chr17:6337410..6337411 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001172392] |
Chr17:6426626 [GRCh38] Chr17:6329946 [GRCh37] Chr17:17p13.2 |
pathogenic|likely pathogenic |
NM_014336.5(AIPL1):c.466-1G>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001172397] |
Chr17:6427058 [GRCh38] Chr17:6330378 [GRCh37] Chr17:17p13.2 |
pathogenic|likely pathogenic |
NM_014336.5(AIPL1):c.665G>A (p.Trp222Ter) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001172398] |
Chr17:6426734 [GRCh38] Chr17:6330054 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.62C>T (p.Thr21Met) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001069033] |
Chr17:6435043 [GRCh38] Chr17:6338363 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.382G>A (p.Ala128Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001043331] |
Chr17:6428401 [GRCh38] Chr17:6331721 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.658G>A (p.Val220Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002563738]|Leber congenital amaurosis 4 [RCV001230278]|Leber congenital amaurosis 4 [RCV002484255] |
Chr17:6426741 [GRCh38] Chr17:6330061 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.96+194T>C |
single nucleotide variant |
not provided [RCV001619051] |
Chr17:6434815 [GRCh38] Chr17:6338135 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.276+302T>A |
single nucleotide variant |
not provided [RCV001608426] |
Chr17:6433617 [GRCh38] Chr17:6336937 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.466-26T>C |
single nucleotide variant |
not provided [RCV001651626] |
Chr17:6427083 [GRCh38] Chr17:6330403 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.642+48G>A |
single nucleotide variant |
not provided [RCV001639972] |
Chr17:6426833 [GRCh38] Chr17:6330153 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.96+186T>C |
single nucleotide variant |
not provided [RCV001617299] |
Chr17:6434823 [GRCh38] Chr17:6338143 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.785-97G>A |
single nucleotide variant |
not provided [RCV001559746] |
Chr17:6425927 [GRCh38] Chr17:6329247 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.784+89C>T |
single nucleotide variant |
not provided [RCV001673676] |
Chr17:6426526 [GRCh38] Chr17:6329846 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.228T>C (p.Leu76=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000952164] |
Chr17:6433967 [GRCh38] Chr17:6337287 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.383C>T (p.Ala128Val) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001439457]|not provided [RCV000983869] |
Chr17:6428400 [GRCh38] Chr17:6331720 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.5(AIPL1):c.854C>A (p.Ala285Glu) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000887502] |
Chr17:6425761 [GRCh38] Chr17:6329081 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.853G>A (p.Ala285Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000887503] |
Chr17:6425762 [GRCh38] Chr17:6329082 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.*146A>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001126874]|Retinitis pigmentosa [RCV001126873] |
Chr17:6425314 [GRCh38] Chr17:6328634 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*112A>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001127269]|Retinitis pigmentosa [RCV001126875] |
Chr17:6425348 [GRCh38] Chr17:6328668 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.356A>G (p.His119Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001231824] |
Chr17:6428427 [GRCh38] Chr17:6331747 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.785G>T (p.Gly262Val) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001127373]|Retinitis pigmentosa [RCV001126964] |
Chr17:6425830 [GRCh38] Chr17:6329150 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1148G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001127057] |
Chr17:6424312 [GRCh38] Chr17:6327632 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*564G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001127167]|Retinitis pigmentosa [RCV001127166] |
Chr17:6424896 [GRCh38] Chr17:6328216 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1288C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001123990]|Retinitis pigmentosa [RCV001122925] |
Chr17:6424172 [GRCh38] Chr17:6327492 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.158G>A (p.Arg53Gln) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001233980] |
Chr17:6434037 [GRCh38] Chr17:6337357 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.746T>C (p.Val249Ala) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001066284] |
Chr17:6426653 [GRCh38] Chr17:6329973 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.784+4C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001243939] |
Chr17:6426611 [GRCh38] Chr17:6329931 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.421C>T (p.Gln141Ter) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001172388] |
Chr17:6428362 [GRCh38] Chr17:6331682 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.785-10_786del |
deletion |
Leber congenital amaurosis 4 [RCV001172391] |
Chr17:6425829..6425840 [GRCh38] Chr17:6329149..6329160 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.105_106insGTGATCTT (p.His36fs) |
insertion |
Leber congenital amaurosis 4 [RCV001172393] |
Chr17:6434089..6434090 [GRCh38] Chr17:6337409..6337410 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.1054_1065dup (p.Ala352_Pro355dup) |
duplication |
Leber congenital amaurosis 4 [RCV001225587] |
Chr17:6425549..6425550 [GRCh38] Chr17:6328869..6328870 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.570G>T (p.Lys190Asn) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001244211] |
Chr17:6426953 [GRCh38] Chr17:6330273 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.393G>C (p.Thr131=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV000934555] |
Chr17:6428390 [GRCh38] Chr17:6331710 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.814del (p.Arg272fs) |
deletion |
Leber congenital amaurosis 4 [RCV002250978] |
Chr17:6425801 [GRCh38] Chr17:6329121 [GRCh37] Chr17:17p13.2 |
likely pathogenic |
NM_014336.5(AIPL1):c.465+230del |
deletion |
not provided [RCV001659302] |
Chr17:6428088 [GRCh38] Chr17:6331408 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.96+98dup |
duplication |
not provided [RCV001716997] |
Chr17:6434904..6434905 [GRCh38] Chr17:6338224..6338225 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.276+306T>A |
single nucleotide variant |
not provided [RCV001689312] |
Chr17:6433613 [GRCh38] Chr17:6336933 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.964C>T (p.Arg322Cys) |
single nucleotide variant |
not provided [RCV001699864] |
Chr17:6425651 [GRCh38] Chr17:6328971 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.465+45A>G |
single nucleotide variant |
not provided [RCV001596160] |
Chr17:6428273 [GRCh38] Chr17:6331593 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.96+288C>G |
single nucleotide variant |
not provided [RCV001678407] |
Chr17:6434721 [GRCh38] Chr17:6338041 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.771C>T (p.Leu257=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002068800]|not specified [RCV001002610] |
Chr17:6426628 [GRCh38] Chr17:6329948 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.*1501G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001126551] |
Chr17:6423959 [GRCh38] Chr17:6327279 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1527T>G |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001126549]|Retinitis pigmentosa [RCV001126550] |
Chr17:6423933 [GRCh38] Chr17:6327253 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*486G>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001127168]|Retinitis pigmentosa [RCV001127169] |
Chr17:6424974 [GRCh38] Chr17:6328294 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*434C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001127171]|Retinitis pigmentosa [RCV001127170] |
Chr17:6425026 [GRCh38] Chr17:6328346 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.597dup (p.Lys200fs) |
duplication |
Leber congenital amaurosis 4 [RCV001172390] |
Chr17:6426925..6426926 [GRCh38] Chr17:6330245..6330246 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.939G>A (p.Ala313=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001126960]|Retinitis pigmentosa [RCV001126961] |
Chr17:6425676 [GRCh38] Chr17:6328996 [GRCh37] Chr17:17p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.96+4A>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001172387] |
Chr17:6435005 [GRCh38] Chr17:6338325 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.97_104dup (p.Phe35delinsLeuTer) |
duplication |
Leber congenital amaurosis 4 [RCV001172394] |
Chr17:6434090..6434091 [GRCh38] Chr17:6337410..6337411 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.97-10C>G |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001211259] |
Chr17:6434108 [GRCh38] Chr17:6337428 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1693C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001122810] |
Chr17:6423767 [GRCh38] Chr17:6327087 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.559C>T (p.Arg187Trp) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001047372] |
Chr17:6426964 [GRCh38] Chr17:6330284 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.615C>G (p.Ile205Met) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001071550] |
Chr17:6426908 [GRCh38] Chr17:6330228 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.643-2A>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001591896] |
Chr17:6426758 [GRCh38] Chr17:6330078 [GRCh37] Chr17:17p13.2 |
pathogenic |
NC_000017.11:g.6435540T>C |
single nucleotide variant |
not provided [RCV001648228] |
Chr17:6435540 [GRCh38] Chr17:6338860 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.276+300T>A |
single nucleotide variant |
not provided [RCV001690365] |
Chr17:6433619 [GRCh38] Chr17:6336939 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.*152del |
deletion |
not provided [RCV001725258] |
Chr17:6425308 [GRCh38] Chr17:6328628 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.97-276dup |
duplication |
not provided [RCV001652527] |
Chr17:6434356..6434357 [GRCh38] Chr17:6337676..6337677 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.784+298G>A |
single nucleotide variant |
not provided [RCV001613823] |
Chr17:6426317 [GRCh38] Chr17:6329637 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001380823]|Leber congenital amaurosis [RCV001002864]|not provided [RCV003226992] |
Chr17:6433980 [GRCh38] Chr17:6337300 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.99del (p.Ile34fs) |
deletion |
Retinitis pigmentosa [RCV001002866] |
Chr17:6434096 [GRCh38] Chr17:6337416 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.323C>T (p.Ala108Val) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001049774] |
Chr17:6428460 [GRCh38] Chr17:6331780 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.784+21G>A |
single nucleotide variant |
Retinal dystrophy [RCV001075008] |
Chr17:6426594 [GRCh38] Chr17:6329914 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.137G>A (p.Arg46Gln) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001236782] |
Chr17:6434058 [GRCh38] Chr17:6337378 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.941_960dup (p.Leu321fs) |
duplication |
Retinal dystrophy [RCV001075690] |
Chr17:6425654..6425655 [GRCh38] Chr17:6328974..6328975 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*873T>G |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001123027] |
Chr17:6424587 [GRCh38] Chr17:6327907 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*749G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001124097]|Retinitis pigmentosa [RCV001124096] |
Chr17:6424711 [GRCh38] Chr17:6328031 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*164G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001124189]|Retinitis pigmentosa [RCV001124188] |
Chr17:6425296 [GRCh38] Chr17:6328616 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.3(AIPL1):c.1-1795del |
deletion |
Leber congenital amaurosis 4 [RCV001172384] |
Chr17:6436898 [GRCh38] Chr17:6340218 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.631C>G (p.Leu211Val) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001058109] |
Chr17:6426892 [GRCh38] Chr17:6330212 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.970C>A (p.Arg324=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001124294]|Retinitis pigmentosa [RCV001124293] |
Chr17:6425645 [GRCh38] Chr17:6328965 [GRCh37] Chr17:17p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.304C>G (p.Arg102Gly) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001236109] |
Chr17:6428479 [GRCh38] Chr17:6331799 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.547G>T (p.Gly183Ter) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001052372] |
Chr17:6426976 [GRCh38] Chr17:6330296 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.*576G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001127165]|Retinitis pigmentosa [RCV001126758] |
Chr17:6424884 [GRCh38] Chr17:6328204 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1054G>A (p.Ala352Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002556662]|Leber congenital amaurosis 4 [RCV001124291]|Retinitis pigmentosa [RCV001123203] |
Chr17:6425561 [GRCh38] Chr17:6328881 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.900G>C (p.Ala300=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001126963]|Retinitis pigmentosa [RCV001126962] |
Chr17:6425715 [GRCh38] Chr17:6329035 [GRCh37] Chr17:17p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.1030G>C (p.Ala344Pro) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001050357] |
Chr17:6425585 [GRCh38] Chr17:6328905 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*148A>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001124191]|Retinitis pigmentosa [RCV001124190] |
Chr17:6425312 [GRCh38] Chr17:6328632 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1036T>C (p.Ser346Pro) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001040978] |
Chr17:6425579 [GRCh38] Chr17:6328899 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1433A>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001128618] |
Chr17:6424027 [GRCh38] Chr17:6327347 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.*1239C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001123991] |
Chr17:6424221 [GRCh38] Chr17:6327541 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1145T>A (p.Leu382Gln) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001057055] |
Chr17:6425470 [GRCh38] Chr17:6328790 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.538G>A (p.Val180Ile) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001125409]|Retinitis pigmentosa [RCV001125408] |
Chr17:6426985 [GRCh38] Chr17:6330305 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001172396]|Leber congenital amaurosis 4 [RCV002489728]|Leber congenital amaurosis [RCV002222668]|not provided [RCV001090635] |
Chr17:6428419 [GRCh38] Chr17:6331739 [GRCh37] Chr17:17p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_014336.5(AIPL1):c.50T>C (p.Leu17Pro) |
single nucleotide variant |
not provided [RCV001090636] |
Chr17:6435055 [GRCh38] Chr17:6338375 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.773G>A (p.Arg258Gln) |
single nucleotide variant |
Fraser syndrome 3 [RCV001251014]|Leber congenital amaurosis 4 [RCV001879812] |
Chr17:6426626 [GRCh38] Chr17:6329946 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.246C>G (p.His82Gln) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001349771] |
Chr17:6433949 [GRCh38] Chr17:6337269 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.645G>A (p.Glu215=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001267879] |
Chr17:6426754 [GRCh38] Chr17:6330074 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.5(AIPL1):c.1081G>A (p.Glu361Lys) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001308018] |
Chr17:6425534 [GRCh38] Chr17:6328854 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.965G>C (p.Arg322Pro) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001299146] |
Chr17:6425650 [GRCh38] Chr17:6328970 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.476C>T (p.Pro159Leu) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001301183] |
Chr17:6427047 [GRCh38] Chr17:6330367 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.817G>T (p.Ala273Ser) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001341773] |
Chr17:6425798 [GRCh38] Chr17:6329118 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NC_000017.10:g.(?_6328780)_(7128416_?)dup |
duplication |
Developmental and epileptic encephalopathy, 25 [RCV001320321] |
Chr17:6328780..7128416 [GRCh37] Chr17:17p13.2-13.1 |
uncertain significance |
NM_014336.5(AIPL1):c.642G>A (p.Lys214=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001300047] |
Chr17:6426881 [GRCh38] Chr17:6330201 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.131A>T (p.Glu44Val) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001338342] |
Chr17:6434064 [GRCh38] Chr17:6337384 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.137G>C (p.Arg46Pro) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001303777] |
Chr17:6434058 [GRCh38] Chr17:6337378 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.725A>C (p.Lys242Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001306281] |
Chr17:6426674 [GRCh38] Chr17:6329994 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.119T>A (p.Met40Lys) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001318455] |
Chr17:6434076 [GRCh38] Chr17:6337396 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.785-1_787del |
deletion |
Leber congenital amaurosis 4 [RCV001299947] |
Chr17:6425828..6425831 [GRCh38] Chr17:6329148..6329151 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1095G>T (p.Gly365=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001322016] |
Chr17:6425520 [GRCh38] Chr17:6328840 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.98T>G (p.Val33Gly) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001316465] |
Chr17:6434097 [GRCh38] Chr17:6337417 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.772C>G (p.Arg258Gly) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001327534] |
Chr17:6426627 [GRCh38] Chr17:6329947 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.915G>C (p.Leu305=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001392722] |
Chr17:6425700 [GRCh38] Chr17:6329020 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.882G>A (p.Glu294=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001415101] |
Chr17:6425733 [GRCh38] Chr17:6329053 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.59G>A (p.Gly20Asp) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001322851] |
Chr17:6435046 [GRCh38] Chr17:6338366 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.884C>G (p.Pro295Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001314576] |
Chr17:6425731 [GRCh38] Chr17:6329051 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.392C>T (p.Thr131Met) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001327357] |
Chr17:6428391 [GRCh38] Chr17:6331711 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.351C>G (p.His117Gln) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001327557] |
Chr17:6428432 [GRCh38] Chr17:6331752 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.828G>C (p.Glu276Asp) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001307866]|Leber congenital amaurosis 4 [RCV002493614] |
Chr17:6425787 [GRCh38] Chr17:6329107 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.208G>A (p.Glu70Lys) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001358895] |
Chr17:6433987 [GRCh38] Chr17:6337307 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.761G>A (p.Ser254Asn) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001299294] |
Chr17:6426638 [GRCh38] Chr17:6329958 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1061C>T (p.Pro354Leu) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001370973] |
Chr17:6425554 [GRCh38] Chr17:6328874 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.454G>A (p.Glu152Lys) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001322638] |
Chr17:6428329 [GRCh38] Chr17:6331649 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.314G>A (p.Arg105Lys) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001313815] |
Chr17:6428469 [GRCh38] Chr17:6331789 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.286G>T (p.Val96Phe) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001318322] |
Chr17:6428497 [GRCh38] Chr17:6331817 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.203A>G (p.Lys68Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001344565] |
Chr17:6433992 [GRCh38] Chr17:6337312 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1100C>T (p.Pro367Leu) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001319764] |
Chr17:6425515 [GRCh38] Chr17:6328835 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.730G>C (p.Glu244Gln) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001306409] |
Chr17:6426669 [GRCh38] Chr17:6329989 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.351C>T (p.His117=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001395408] |
Chr17:6428432 [GRCh38] Chr17:6331752 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.995C>T (p.Thr332Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003246861]|Leber congenital amaurosis 4 [RCV001306961] |
Chr17:6425620 [GRCh38] Chr17:6328940 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1028C>T (p.Pro343Leu) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001318627]|not provided [RCV001700734] |
Chr17:6425587 [GRCh38] Chr17:6328907 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.276+17C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001421132] |
Chr17:6433902 [GRCh38] Chr17:6337222 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.577C>T (p.Arg193Cys) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001359727] |
Chr17:6426946 [GRCh38] Chr17:6330266 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.393G>A (p.Thr131=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001474001] |
Chr17:6428390 [GRCh38] Chr17:6331710 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.9C>T (p.Ala3=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001434817] |
Chr17:6435096 [GRCh38] Chr17:6338416 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.360G>A (p.Thr120=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001498883] |
Chr17:6428423 [GRCh38] Chr17:6331743 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.963G>A (p.Leu321=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001409745] |
Chr17:6425652 [GRCh38] Chr17:6328972 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.51G>A (p.Leu17=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001398018] |
Chr17:6435054 [GRCh38] Chr17:6338374 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.512dup (p.Asn171fs) |
duplication |
Leber congenital amaurosis 4 [RCV001383804] |
Chr17:6427010..6427011 [GRCh38] Chr17:6330330..6330331 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.673C>T (p.Leu225=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001436287] |
Chr17:6426726 [GRCh38] Chr17:6330046 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.1047G>A (p.Glu349=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001437655] |
Chr17:6425568 [GRCh38] Chr17:6328888 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.810T>C (p.Arg270=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001445414] |
Chr17:6425805 [GRCh38] Chr17:6329125 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.363C>T (p.Cys121=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001461394] |
Chr17:6428420 [GRCh38] Chr17:6331740 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.384C>T (p.Ala128=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001495262] |
Chr17:6428399 [GRCh38] Chr17:6331719 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.238C>A (p.Arg80=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001495645] |
Chr17:6433957 [GRCh38] Chr17:6337277 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.97-276_97-275dup |
duplication |
not provided [RCV001674705] |
Chr17:6434356..6434357 [GRCh38] Chr17:6337676..6337677 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.276+304T>A |
single nucleotide variant |
not provided [RCV001695701] |
Chr17:6433615 [GRCh38] Chr17:6336935 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.853_854delinsAA (p.Ala285Lys) |
indel |
Leber congenital amaurosis 4 [RCV001514221] |
Chr17:6425761..6425762 [GRCh38] Chr17:6329081..6329082 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.813C>T (p.Ala271=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001498050] |
Chr17:6425802 [GRCh38] Chr17:6329122 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.756C>T (p.His252=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001520928] |
Chr17:6426643 [GRCh38] Chr17:6329963 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.402C>T (p.Tyr134=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001485013] |
Chr17:6428381 [GRCh38] Chr17:6331701 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.327G>A (p.Gln109=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001503746] |
Chr17:6428456 [GRCh38] Chr17:6331776 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.333G>A (p.Lys111=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001505712] |
Chr17:6428450 [GRCh38] Chr17:6331770 [GRCh37] Chr17:17p13.2 |
likely benign |
NC_000017.10:g.(?_6328780)_(7606804_?)dup |
duplication |
Congenital myasthenic syndrome 2A [RCV003109217]|Very long chain acyl-CoA dehydrogenase deficiency [RCV003119078] |
Chr17:6328780..7606804 [GRCh37] Chr17:17p13.2-13.1 |
uncertain significance |
NM_014336.5(AIPL1):c.1126C>G (p.Pro376Ala) |
single nucleotide variant |
not provided [RCV001760869] |
Chr17:6425489 [GRCh38] Chr17:6328809 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.247G>C (p.Glu83Gln) |
single nucleotide variant |
not provided [RCV001765992] |
Chr17:6433948 [GRCh38] Chr17:6337268 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.465+1G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001861049]|not provided [RCV001756610] |
Chr17:6428317 [GRCh38] Chr17:6331637 [GRCh37] Chr17:17p13.2 |
likely pathogenic|uncertain significance |
NM_014336.5(AIPL1):c.963_993dup (p.Thr332fs) |
duplication |
Leber congenital amaurosis 4 [RCV001808097] |
Chr17:6425621..6425622 [GRCh38] Chr17:6328941..6328942 [GRCh37] Chr17:17p13.2 |
likely pathogenic |
NM_014336.5(AIPL1):c.113G>A (p.Arg38His) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001808216] |
Chr17:6434082 [GRCh38] Chr17:6337402 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.785-1G>C |
single nucleotide variant |
Abnormality of the eye [RCV001814356] |
Chr17:6425831 [GRCh38] Chr17:6329151 [GRCh37] Chr17:17p13.2 |
likely pathogenic |
NM_014336.5(AIPL1):c.515A>G (p.His172Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001950637] |
Chr17:6427008 [GRCh38] Chr17:6330328 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.466-7G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002045369] |
Chr17:6427064 [GRCh38] Chr17:6330384 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.239G>A (p.Arg80Gln) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001984621] |
Chr17:6433956 [GRCh38] Chr17:6337276 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.531G>A (p.Ala177=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001949444] |
Chr17:6426992 [GRCh38] Chr17:6330312 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.983G>C (p.Ser328Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002006290] |
Chr17:6425632 [GRCh38] Chr17:6328952 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.593C>T (p.Ser198Phe) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001968217] |
Chr17:6426930 [GRCh38] Chr17:6330250 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.934A>C (p.Met312Leu) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001892638] |
Chr17:6425681 [GRCh38] Chr17:6329001 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1112C>G (p.Ala371Gly) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001895691]|Leber congenital amaurosis 4 [RCV002490116] |
Chr17:6425503 [GRCh38] Chr17:6328823 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.281C>T (p.Thr94Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002579675]|Leber congenital amaurosis 4 [RCV002003777] |
Chr17:6428502 [GRCh38] Chr17:6331822 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.938C>T (p.Ala313Val) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002041484] |
Chr17:6425677 [GRCh38] Chr17:6328997 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.227T>C (p.Leu76Pro) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001964946] |
Chr17:6433968 [GRCh38] Chr17:6337288 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.2-13.1(chr17:6248108-6637236)x1 |
copy number loss |
not provided [RCV001836500] |
Chr17:6248108..6637236 [GRCh37] Chr17:17p13.2-13.1 |
uncertain significance |
NM_014336.5(AIPL1):c.274A>G (p.Ile92Val) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002044132] |
Chr17:6433921 [GRCh38] Chr17:6337241 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.276+1G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002007326]|Leber congenital amaurosis 4 [RCV002497862] |
Chr17:6433918 [GRCh38] Chr17:6337238 [GRCh37] Chr17:17p13.2 |
pathogenic|likely pathogenic |
NM_014336.5(AIPL1):c.66C>T (p.Gly22=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001986625] |
Chr17:6435039 [GRCh38] Chr17:6338359 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.784+6C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002004288] |
Chr17:6426609 [GRCh38] Chr17:6329929 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.140C>T (p.Thr47Ile) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001936983] |
Chr17:6434055 [GRCh38] Chr17:6337375 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.96+18G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001997199] |
Chr17:6434991 [GRCh38] Chr17:6338311 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.172C>A (p.Pro58Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001942427] |
Chr17:6434023 [GRCh38] Chr17:6337343 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.46A>G (p.Ile16Val) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001940709] |
Chr17:6435059 [GRCh38] Chr17:6338379 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.546C>A (p.His182Gln) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001941469] |
Chr17:6426977 [GRCh38] Chr17:6330297 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.304C>T (p.Arg102Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003166928]|Leber congenital amaurosis 4 [RCV001888773] |
Chr17:6428479 [GRCh38] Chr17:6331799 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.95G>C (p.Arg32Pro) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001866695] |
Chr17:6435010 [GRCh38] Chr17:6338330 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.958C>T (p.Arg320Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002553476]|Leber congenital amaurosis 4 [RCV001902683] |
Chr17:6425657 [GRCh38] Chr17:6328977 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.298C>G (p.Leu100Val) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001888382] |
Chr17:6428485 [GRCh38] Chr17:6331805 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.525G>A (p.Met175Ile) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001918871] |
Chr17:6426998 [GRCh38] Chr17:6330318 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.358A>G (p.Thr120Ala) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002019070] |
Chr17:6428425 [GRCh38] Chr17:6331745 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.325C>T (p.Gln109Ter) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001956316] |
Chr17:6428458 [GRCh38] Chr17:6331778 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.176T>C (p.Met59Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002049117] |
Chr17:6434019 [GRCh38] Chr17:6337339 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.763G>T (p.Asp255Tyr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001990943] |
Chr17:6426636 [GRCh38] Chr17:6329956 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1123C>T (p.Pro375Ser) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001920425] |
Chr17:6425492 [GRCh38] Chr17:6328812 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.212T>G (p.Val71Gly) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001976695] |
Chr17:6433983 [GRCh38] Chr17:6337303 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.577C>A (p.Arg193Ser) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001899228] |
Chr17:6426946 [GRCh38] Chr17:6330266 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1058A>G (p.Glu353Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002545375]|Leber congenital amaurosis 4 [RCV002046905] |
Chr17:6425557 [GRCh38] Chr17:6328877 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1099C>T (p.Pro367Ser) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001974379] |
Chr17:6425516 [GRCh38] Chr17:6328836 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.254C>A (p.Ala85Asp) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002032218] |
Chr17:6433941 [GRCh38] Chr17:6337261 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.488_498del (p.Gln163fs) |
deletion |
Leber congenital amaurosis 4 [RCV001922675] |
Chr17:6427025..6427035 [GRCh38] Chr17:6330345..6330355 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.920T>C (p.Leu307Pro) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001977792] |
Chr17:6425695 [GRCh38] Chr17:6329015 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.932G>A (p.Arg311His) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001992008] |
Chr17:6425683 [GRCh38] Chr17:6329003 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.826G>T (p.Glu276Ter) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001993339] |
Chr17:6425789 [GRCh38] Chr17:6329109 [GRCh37] Chr17:17p13.2 |
pathogenic |
NC_000017.10:g.(?_6338309)_(6338424_?)dup |
duplication |
Leber congenital amaurosis 4 [RCV001918920] |
Chr17:6338309..6338424 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.586G>A (p.Glu196Lys) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002028051] |
Chr17:6426937 [GRCh38] Chr17:6330257 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1136G>C (p.Gly379Ala) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002046738] |
Chr17:6425479 [GRCh38] Chr17:6328799 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1096C>A (p.Pro366Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002019373] |
Chr17:6425519 [GRCh38] Chr17:6328839 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1030G>T (p.Ala344Ser) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001961590] |
Chr17:6425585 [GRCh38] Chr17:6328905 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.412G>C (p.Asp138His) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001925326] |
Chr17:6428371 [GRCh38] Chr17:6331691 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1005del (p.Ala336fs) |
deletion |
Leber congenital amaurosis 4 [RCV001973588]|not specified [RCV003331254] |
Chr17:6425610 [GRCh38] Chr17:6328930 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.547G>A (p.Gly183Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001904484] |
Chr17:6426976 [GRCh38] Chr17:6330296 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.97G>C (p.Val33Leu) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002030404] |
Chr17:6434098 [GRCh38] Chr17:6337418 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.276+15C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001978294] |
Chr17:6433904 [GRCh38] Chr17:6337224 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.5(AIPL1):c.724AAG[1] (p.Lys243del) |
microsatellite |
Leber congenital amaurosis 4 [RCV001940650] |
Chr17:6426670..6426672 [GRCh38] Chr17:6329990..6329992 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.403G>A (p.Glu135Lys) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001906873]|not specified [RCV002266057] |
Chr17:6428380 [GRCh38] Chr17:6331700 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.5(AIPL1):c.221T>C (p.Ile74Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001864789] |
Chr17:6433974 [GRCh38] Chr17:6337294 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.92C>A (p.Ser31Tyr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001916856] |
Chr17:6435013 [GRCh38] Chr17:6338333 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.950A>G (p.Glu317Gly) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001922771] |
Chr17:6425665 [GRCh38] Chr17:6328985 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.352G>A (p.Val118Met) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV001932859] |
Chr17:6428431 [GRCh38] Chr17:6331751 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.819T>C (p.Ala273=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002129060] |
Chr17:6425796 [GRCh38] Chr17:6329116 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.543C>A (p.Leu181=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002073504] |
Chr17:6426980 [GRCh38] Chr17:6330300 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.97-14G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002089647] |
Chr17:6434112 [GRCh38] Chr17:6337432 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.141A>T (p.Thr47=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002080500] |
Chr17:6434054 [GRCh38] Chr17:6337374 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.277-19C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002127723] |
Chr17:6428525 [GRCh38] Chr17:6331845 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.276+12del |
deletion |
Leber congenital amaurosis 4 [RCV002171766] |
Chr17:6433907 [GRCh38] Chr17:6337227 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.276+18G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002075620] |
Chr17:6433901 [GRCh38] Chr17:6337221 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.277-16C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002179164] |
Chr17:6428522 [GRCh38] Chr17:6331842 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.96+13C>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002217185] |
Chr17:6434996 [GRCh38] Chr17:6338316 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.1074A>G (p.Pro358=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002158232] |
Chr17:6425541 [GRCh38] Chr17:6328861 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.660G>A (p.Val220=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002200537] |
Chr17:6426739 [GRCh38] Chr17:6330059 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.240G>T (p.Arg80=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002176164] |
Chr17:6433955 [GRCh38] Chr17:6337275 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.1029C>T (p.Pro343=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002081563] |
Chr17:6425586 [GRCh38] Chr17:6328906 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.96+17C>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002160337] |
Chr17:6434992 [GRCh38] Chr17:6338312 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.189C>T (p.Ile63=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002102396] |
Chr17:6434006 [GRCh38] Chr17:6337326 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.276+16_276+17delinsTT |
indel |
Leber congenital amaurosis 4 [RCV002138728] |
Chr17:6433902..6433903 [GRCh38] Chr17:6337222..6337223 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.97-10C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002182191] |
Chr17:6434108 [GRCh38] Chr17:6337428 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.585G>A (p.Glu195=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002182383] |
Chr17:6426938 [GRCh38] Chr17:6330258 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.276+16G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002103740] |
Chr17:6433903 [GRCh38] Chr17:6337223 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.600G>A (p.Lys200=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002178689] |
Chr17:6426923 [GRCh38] Chr17:6330243 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.961C>T (p.Leu321=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002219168] |
Chr17:6425654 [GRCh38] Chr17:6328974 [GRCh37] Chr17:17p13.2 |
likely benign |
NC_000017.10:g.(?_5289526)_(6616652_?)dup |
duplication |
Developmental and epileptic encephalopathy, 25 [RCV003113887] |
Chr17:5289526..6616652 [GRCh37] Chr17:17p13.2-13.1 |
uncertain significance |
NC_000017.10:g.(?_6331618)_(6338424_?)del |
deletion |
Leber congenital amaurosis 4 [RCV003116739] |
Chr17:6331618..6338424 [GRCh37] Chr17:17p13.2 |
pathogenic |
NC_000017.10:g.(?_6328780)_(6428803_?)dup |
duplication |
Leber congenital amaurosis 4 [RCV003116741]|not provided [RCV003116740] |
Chr17:6328780..6428803 [GRCh37] Chr17:17p13.2 |
uncertain significance|no classifications from unflagged records |
NM_014336.5(AIPL1):c.40A>G (p.Lys14Glu) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003152894] |
Chr17:6435065 [GRCh38] Chr17:6338385 [GRCh37] Chr17:17p13.2 |
likely pathogenic |
NM_014336.5(AIPL1):c.623T>C (p.Leu208Pro) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003153191] |
Chr17:6426900 [GRCh38] Chr17:6330220 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.406G>A (p.Asp136Asn) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002296251] |
Chr17:6428377 [GRCh38] Chr17:6331697 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.937G>A (p.Ala313Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002302991] |
Chr17:6425678 [GRCh38] Chr17:6328998 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.364G>A (p.Gly122Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003074985] |
Chr17:6428419 [GRCh38] Chr17:6331739 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.1005C>T (p.Pro335=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002970931] |
Chr17:6425610 [GRCh38] Chr17:6328930 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.55G>C (p.Gly19Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002775336] |
Chr17:6435050 [GRCh38] Chr17:6338370 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.20T>G (p.Leu7Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002815499] |
Chr17:6435085 [GRCh38] Chr17:6338405 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.119T>C (p.Met40Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002686060] |
Chr17:6434076 [GRCh38] Chr17:6337396 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.537C>T (p.Pro179=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003075514] |
Chr17:6426986 [GRCh38] Chr17:6330306 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.1004C>T (p.Pro335Leu) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002991500] |
Chr17:6425611 [GRCh38] Chr17:6328931 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.642+3C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002993598] |
Chr17:6426878 [GRCh38] Chr17:6330198 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.205C>T (p.Leu69Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002901998] |
Chr17:6433990 [GRCh38] Chr17:6337310 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1080A>C (p.Ala360=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002861638] |
Chr17:6425535 [GRCh38] Chr17:6328855 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.277-6C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002750358] |
Chr17:6428512 [GRCh38] Chr17:6331832 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.1024C>T (p.Pro342Ser) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002996293]|not provided [RCV003418703] |
Chr17:6425591 [GRCh38] Chr17:6328911 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.95G>A (p.Arg32Gln) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002996013] |
Chr17:6435010 [GRCh38] Chr17:6338330 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.282G>A (p.Thr94=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003081782] |
Chr17:6428501 [GRCh38] Chr17:6331821 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.642+8G>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002871048] |
Chr17:6426873 [GRCh38] Chr17:6330193 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002848016] |
Chr17:6435103 [GRCh38] Chr17:6338423 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.136C>T (p.Arg46Trp) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002736303] |
Chr17:6434059 [GRCh38] Chr17:6337379 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.459G>A (p.Leu153=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003019455] |
Chr17:6428324 [GRCh38] Chr17:6331644 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.381C>T (p.Phe127=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002621071] |
Chr17:6428402 [GRCh38] Chr17:6331722 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.1084C>T (p.Leu362=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002820248] |
Chr17:6425531 [GRCh38] Chr17:6328851 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.740A>G (p.Tyr247Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002758087] |
Chr17:6426659 [GRCh38] Chr17:6329979 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.97-18C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002866256] |
Chr17:6434116 [GRCh38] Chr17:6337436 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.465+13T>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002569512] |
Chr17:6428305 [GRCh38] Chr17:6331625 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.996G>A (p.Thr332=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002592764] |
Chr17:6425619 [GRCh38] Chr17:6328939 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.476C>G (p.Pro159Arg) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003000021] |
Chr17:6427047 [GRCh38] Chr17:6330367 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.465+20G>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002847308] |
Chr17:6428298 [GRCh38] Chr17:6331618 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.67G>A (p.Glu23Lys) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002706577] |
Chr17:6435038 [GRCh38] Chr17:6338358 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.219G>A (p.Glu73=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002847146] |
Chr17:6433976 [GRCh38] Chr17:6337296 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.465+20G>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002639426] |
Chr17:6428298 [GRCh38] Chr17:6331618 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.1123C>A (p.Pro375Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002590571] |
Chr17:6425492 [GRCh38] Chr17:6328812 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.636G>C (p.Gln212His) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002591493] |
Chr17:6426887 [GRCh38] Chr17:6330207 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.97-1G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002876610] |
Chr17:6434099 [GRCh38] Chr17:6337419 [GRCh37] Chr17:17p13.2 |
likely pathogenic |
NM_014336.5(AIPL1):c.256G>A (p.Glu86Lys) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002932778] |
Chr17:6433939 [GRCh38] Chr17:6337259 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.268G>A (p.Asp90Asn) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002958072] |
Chr17:6433927 [GRCh38] Chr17:6337247 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.642+19G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002805742] |
Chr17:6426862 [GRCh38] Chr17:6330182 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.1006_1017del (p.Ala336_Pro339del) |
deletion |
Leber congenital amaurosis 4 [RCV002741901] |
Chr17:6425598..6425609 [GRCh38] Chr17:6328918..6328929 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.246C>A (p.His82Gln) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002741933] |
Chr17:6433949 [GRCh38] Chr17:6337269 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.147T>C (p.Ile49=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002786669] |
Chr17:6434048 [GRCh38] Chr17:6337368 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.642+20G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002711118] |
Chr17:6426861 [GRCh38] Chr17:6330181 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1081G>C (p.Glu361Gln) |
single nucleotide variant |
AIPL1-related condition [RCV003409937]|Leber congenital amaurosis 4 [RCV002829164] |
Chr17:6425534 [GRCh38] Chr17:6328854 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.784+20C>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002928965] |
Chr17:6426595 [GRCh38] Chr17:6329915 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.381C>A (p.Phe127Leu) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002573907] |
Chr17:6428402 [GRCh38] Chr17:6331722 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.357C>T (p.His119=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002872187] |
Chr17:6428426 [GRCh38] Chr17:6331746 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.465+16G>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002577619] |
Chr17:6428302 [GRCh38] Chr17:6331622 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.717C>T (p.Cys239=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002835266] |
Chr17:6426682 [GRCh38] Chr17:6330002 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.772C>T (p.Arg258Trp) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003090838] |
Chr17:6426627 [GRCh38] Chr17:6329947 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1147C>T (p.Gln383Ter) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002650220] |
Chr17:6425468 [GRCh38] Chr17:6328788 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.129T>C (p.Asp43=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003048752] |
Chr17:6434066 [GRCh38] Chr17:6337386 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.1102G>A (p.Ala368Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002809335] |
Chr17:6425513 [GRCh38] Chr17:6328833 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.519G>C (p.Glu173Asp) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002629988] |
Chr17:6427004 [GRCh38] Chr17:6330324 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.778dup (p.His260fs) |
duplication |
Leber congenital amaurosis 4 [RCV002834349] |
Chr17:6426620..6426621 [GRCh38] Chr17:6329940..6329941 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.178_179delinsAC (p.His60Thr) |
indel |
Leber congenital amaurosis 4 [RCV002576774] |
Chr17:6434016..6434017 [GRCh38] Chr17:6337336..6337337 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.297C>G (p.Ile99Met) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003087394] |
Chr17:6428486 [GRCh38] Chr17:6331806 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.805G>T (p.Val269Leu) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002939087] |
Chr17:6425810 [GRCh38] Chr17:6329130 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.917G>A (p.Arg306Lys) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003088269] |
Chr17:6425698 [GRCh38] Chr17:6329018 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.714G>C (p.Gln238His) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003030534] |
Chr17:6426685 [GRCh38] Chr17:6330005 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1090G>A (p.Ala364Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003088358] |
Chr17:6425525 [GRCh38] Chr17:6328845 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.241G>A (p.Val81Met) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003062845] |
Chr17:6433954 [GRCh38] Chr17:6337274 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.804C>T (p.Tyr268=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002746577] |
Chr17:6425811 [GRCh38] Chr17:6329131 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.1135G>C (p.Gly379Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003250635]|Leber congenital amaurosis 4 [RCV002939034] |
Chr17:6425480 [GRCh38] Chr17:6328800 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.643-16C>G |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002746782] |
Chr17:6426772 [GRCh38] Chr17:6330092 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.276+12C>G |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002895693] |
Chr17:6433907 [GRCh38] Chr17:6337227 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.785-14C>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002675835] |
Chr17:6425844 [GRCh38] Chr17:6329164 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.752A>G (p.Glu251Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002944606] |
Chr17:6426647 [GRCh38] Chr17:6329967 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.1128G>A (p.Pro376=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002584336] |
Chr17:6425487 [GRCh38] Chr17:6328807 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.1129T>A (p.Ser377Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002603173] |
Chr17:6425486 [GRCh38] Chr17:6328806 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.917G>C (p.Arg306Thr) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003052468] |
Chr17:6425698 [GRCh38] Chr17:6329018 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.23A>G (p.Asn8Ser) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003068868] |
Chr17:6435082 [GRCh38] Chr17:6338402 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.150C>T (p.Asp50=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003068453] |
Chr17:6434045 [GRCh38] Chr17:6337365 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.255C>T (p.Ala85=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002606024] |
Chr17:6433940 [GRCh38] Chr17:6337260 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.465+4G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002585405] |
Chr17:6428314 [GRCh38] Chr17:6331634 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.276+7dup |
duplication |
Leber congenital amaurosis 4 [RCV002943587] |
Chr17:6433911..6433912 [GRCh38] Chr17:6337231..6337232 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.868G>C (p.Val290Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002588720]|Leber congenital amaurosis 4 [RCV002588721] |
Chr17:6425747 [GRCh38] Chr17:6329067 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.643-4G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV002607755] |
Chr17:6426760 [GRCh38] Chr17:6330080 [GRCh37] Chr17:17p13.2 |
likely benign|uncertain significance |
NM_014336.5(AIPL1):c.575G>T (p.Gly192Val) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003141282] |
Chr17:6426948 [GRCh38] Chr17:6330268 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_014336.5(AIPL1):c.418C>T (p.Leu140=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003872508] |
Chr17:6428365 [GRCh38] Chr17:6331685 [GRCh37] Chr17:17p13.2 |
likely benign |
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 |
copy number gain |
Chromosome 17p13.3 duplication syndrome [RCV003327726] |
Chr17:165730..11404096 [GRCh38] Chr17:17p13.3-12 |
pathogenic |
NM_014336.5(AIPL1):c.729G>A (p.Lys243=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003505730] |
Chr17:6426670 [GRCh38] Chr17:6329990 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.255C>G (p.Ala85=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003506134] |
Chr17:6433940 [GRCh38] Chr17:6337260 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.72C>T (p.Leu24=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003504693] |
Chr17:6435033 [GRCh38] Chr17:6338353 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.465+9G>C |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003505532] |
Chr17:6428309 [GRCh38] Chr17:6331629 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.561G>C (p.Arg187=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003505544] |
Chr17:6426962 [GRCh38] Chr17:6330282 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.643-10C>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003505813] |
Chr17:6426766 [GRCh38] Chr17:6330086 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.1143G>C (p.Ser381=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003505832] |
Chr17:6425472 [GRCh38] Chr17:6328792 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.969C>T (p.Cys323=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003506119] |
Chr17:6425646 [GRCh38] Chr17:6328966 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.741T>C (p.Tyr247=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003506164] |
Chr17:6426658 [GRCh38] Chr17:6329978 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.96+14del |
deletion |
Leber congenital amaurosis 4 [RCV003505568] |
Chr17:6434995 [GRCh38] Chr17:6338315 [GRCh37] Chr17:17p13.2 |
benign |
NM_014336.5(AIPL1):c.663G>A (p.Gln221=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003505893] |
Chr17:6426736 [GRCh38] Chr17:6330056 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.9C>A (p.Ala3=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003505617] |
Chr17:6435096 [GRCh38] Chr17:6338416 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.996G>T (p.Thr332=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003505909] |
Chr17:6425619 [GRCh38] Chr17:6328939 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.772C>A (p.Arg258=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003505920] |
Chr17:6426627 [GRCh38] Chr17:6329947 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.360G>T (p.Thr120=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003504721] |
Chr17:6428423 [GRCh38] Chr17:6331743 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.867dup (p.Val290fs) |
duplication |
Leber congenital amaurosis 4 [RCV003505632] |
Chr17:6425747..6425748 [GRCh38] Chr17:6329067..6329068 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.273C>G (p.Thr91=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003505935] |
Chr17:6433922 [GRCh38] Chr17:6337242 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.88G>T (p.Gly30Ter) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003504839] |
Chr17:6435017 [GRCh38] Chr17:6338337 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.96+10G>A |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003504877] |
Chr17:6434999 [GRCh38] Chr17:6338319 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.294C>T (p.Pro98=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003505998] |
Chr17:6428489 [GRCh38] Chr17:6331809 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.477G>A (p.Pro159=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003506307] |
Chr17:6427046 [GRCh38] Chr17:6330366 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.1116A>C (p.Thr372=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003505419] |
Chr17:6425499 [GRCh38] Chr17:6328819 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_001285403.4(AIPL1):c.466-24_466-21del |
deletion |
Leber congenital amaurosis 4 [RCV003506503] |
Chr17:6427054..6427057 [GRCh38] Chr17:6330374..6330377 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.642+11G>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003506439] |
Chr17:6426870 [GRCh38] Chr17:6330190 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.567C>T (p.Phe189=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003506687] |
Chr17:6426956 [GRCh38] Chr17:6330276 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.785-4A>G |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003506630] |
Chr17:6425834 [GRCh38] Chr17:6329154 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.465+19G>T |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003506371] |
Chr17:6428299 [GRCh38] Chr17:6331619 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.572T>C (p.Leu191Pro) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003506582] |
Chr17:6426951 [GRCh38] Chr17:6330271 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.306G>A (p.Arg102=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003506747] |
Chr17:6428477 [GRCh38] Chr17:6331797 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.855G>A (p.Ala285=) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003506481] |
Chr17:6425760 [GRCh38] Chr17:6329080 [GRCh37] Chr17:17p13.2 |
likely benign |
NM_014336.5(AIPL1):c.152A>G (p.Asp51Gly) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003506583] |
Chr17:6434043 [GRCh38] Chr17:6337363 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_014336.5(AIPL1):c.809G>A (p.Arg270His) |
single nucleotide variant |
Leber congenital amaurosis 4 [RCV003506581] |
Chr17:6425806 [GRCh38] Chr17:6329126 [GRCh37] Chr17:17p13.2 |
likely pathogenic |