NMNAT1, TRP169TER |
variation |
Leber congenital amaurosis 9 [RCV000030768] |
Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.838T>C (p.Ter280Gln) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV000030763] |
Chr1:9982699 [GRCh38] Chr1:10042757 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV000030764]|not provided [RCV001090803] |
Chr1:9982480 [GRCh38] Chr1:10042538 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) |
single nucleotide variant |
Global developmental delay [RCV001003567]|Inborn genetic diseases [RCV004639123]|Leber congenital amaurosis 9 [RCV000030765]|Leber congenital amaurosis [RCV000504859]|Retinal dystrophy [RCV001075816]|not provided [RCV000255806] |
Chr1:9982630 [GRCh38] Chr1:10042688 [GRCh37] Chr1:1p36.22 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_022787.4(NMNAT1):c.817A>G (p.Asn273Asp) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV000030766] |
Chr1:9982678 [GRCh38] Chr1:10042736 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV000030767] |
Chr1:9982312 [GRCh38] Chr1:10042370 [GRCh37] Chr1:1p36.22 |
pathogenic|uncertain significance |
NM_022787.4(NMNAT1):c.710G>T (p.Arg237Leu) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV000030769] |
Chr1:9982571 [GRCh38] Chr1:10042629 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV000030770] |
Chr1:9982318 [GRCh38] Chr1:10042376 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.25G>A (p.Val9Met) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV000030771] |
Chr1:9972098 [GRCh38] Chr1:10032156 [GRCh37] Chr1:1p36.22 |
pathogenic |
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 |
copy number gain |
See cases [RCV000051794] |
Chr1:6652339..12724844 [GRCh38] Chr1:6712399..12784811 [GRCh37] Chr1:6634986..12707398 [NCBI36] Chr1:1p36.31-36.21 |
pathogenic |
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] |
Chr1:6853513..17326813 [GRCh38] Chr1:6913573..17685411 [GRCh37] Chr1:6836160..17557998 [NCBI36] Chr1:1p36.31-36.13 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] |
Chr1:844347..10809098 [GRCh38] Chr1:779727..10869155 [GRCh37] Chr1:769590..10791742 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic |
GRCh38/hg38 1p36.31-36.22(chr1:5682528-10863843)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|See cases [RCV000053730] |
Chr1:5682528..10863843 [GRCh38] Chr1:5742588..10923900 [GRCh37] Chr1:5665175..10846487 [NCBI36] Chr1:1p36.31-36.22 |
pathogenic |
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] |
Chr1:2963330..12666744 [GRCh38] Chr1:2879895..12726755 [GRCh37] Chr1:2869755..12649342 [NCBI36] Chr1:1p36.32-36.21 |
pathogenic |
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 |
copy number loss |
See cases [RCV000053714] |
Chr1:3006193..17688934 [GRCh38] Chr1:2922757..18015429 [GRCh37] Chr1:2912617..17888016 [NCBI36] Chr1:1p36.32-36.13 |
pathogenic |
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] |
Chr1:3319336..11243395 [GRCh38] Chr1:3235900..11303452 [GRCh37] Chr1:3225760..11226039 [NCBI36] Chr1:1p36.32-36.22 |
pathogenic |
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 |
copy number loss |
See cases [RCV000053724] |
Chr1:4898439..13111056 [GRCh38] Chr1:4958499..13178528 [GRCh37] Chr1:4858359..13101115 [NCBI36] Chr1:1p36.32-36.21 |
pathogenic |
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 |
copy number loss |
See cases [RCV000053755] |
Chr1:7165036..13111056 [GRCh38] Chr1:7225096..13178528 [GRCh37] Chr1:7147683..13101115 [NCBI36] Chr1:1p36.23-36.21 |
pathogenic |
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 |
copy number loss |
See cases [RCV000053756] |
Chr1:9034671..16441465 [GRCh38] Chr1:9094730..16767960 [GRCh37] Chr1:9017317..16640547 [NCBI36] Chr1:1p36.23-36.13 |
pathogenic |
GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|See cases [RCV000053757] |
Chr1:9406722..12852772 [GRCh38] Chr1:9466781..12912625 [GRCh37] Chr1:9389368..12835212 [NCBI36] Chr1:1p36.22-36.21 |
pathogenic |
NM_022787.3(NMNAT1):c.695G>A (p.Arg232Lys) |
single nucleotide variant |
Malignant melanoma [RCV000064974] |
Chr1:9982556 [GRCh38] Chr1:10042614 [GRCh37] Chr1:9965201 [NCBI36] Chr1:1p36.22 |
not provided |
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256641]|Retinal dystrophy [RCV001075815]|not provided [RCV000171148] |
Chr1:9972126 [GRCh38] Chr1:10032184 [GRCh37] Chr1:1p36.22 |
pathogenic|likely pathogenic|no classifications from unflagged records |
NM_022787.4(NMNAT1):c.556G>A (p.Val186Ile) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001312417] |
Chr1:9982417 [GRCh38] Chr1:10042475 [GRCh37] Chr1:1p36.22 |
uncertain significance |
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 |
copy number loss |
See cases [RCV000133779] |
Chr1:9064492..12666744 [GRCh38] Chr1:9124551..12726755 [GRCh37] Chr1:9047138..12649342 [NCBI36] Chr1:1p36.23-36.21 |
pathogenic |
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 |
copy number loss |
See cases [RCV000135807] |
Chr1:8283694..12470133 [GRCh38] Chr1:8343754..12530188 [GRCh37] Chr1:8266341..12452775 [NCBI36] Chr1:1p36.23-36.22 |
pathogenic |
GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3 |
copy number gain |
See cases [RCV000137134] |
Chr1:8804244..10102950 [GRCh38] Chr1:8864303..10163008 [GRCh37] Chr1:8786890..10085595 [NCBI36] Chr1:1p36.23-36.22 |
uncertain significance |
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 |
copy number loss |
See cases [RCV000136695] |
Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic|likely pathogenic |
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 |
copy number loss |
See cases [RCV000137461] |
Chr1:4898439..12911913 [GRCh38] Chr1:4958499..12971757 [GRCh37] Chr1:4858359..12894344 [NCBI36] Chr1:1p36.32-36.21 |
pathogenic |
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 |
copy number loss |
See cases [RCV000137948] |
Chr1:6303641..15799093 [GRCh38] Chr1:6363701..16125588 [GRCh37] Chr1:6286288..15998175 [NCBI36] Chr1:1p36.31-36.21 |
pathogenic|likely benign |
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 |
copy number loss |
See cases [RCV000140873] |
Chr1:9428538..15815791 [GRCh38] Chr1:9488597..16142286 [GRCh37] Chr1:9411184..16014873 [NCBI36] Chr1:1p36.22-36.21 |
pathogenic |
GRCh38/hg38 1p36.22(chr1:9378480-10317912)x3 |
copy number gain |
See cases [RCV000141821] |
Chr1:9378480..10317912 [GRCh38] Chr1:9438539..10377970 [GRCh37] Chr1:9361126..10300557 [NCBI36] Chr1:1p36.22 |
uncertain significance |
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 |
copy number gain |
See cases [RCV000142906] |
Chr1:6554885..16056011 [GRCh38] Chr1:6614945..16382506 [GRCh37] Chr1:6537532..16255093 [NCBI36] Chr1:1p36.31-36.13 |
pathogenic |
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 |
copy number loss |
See cases [RCV000142771] |
Chr1:5363826..18360302 [GRCh38] Chr1:5423886..18686796 [GRCh37] Chr1:5323746..18559383 [NCBI36] Chr1:1p36.31-36.13 |
pathogenic |
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256640]|Retinal dystrophy [RCV001074101]|not provided [RCV000175940] |
Chr1:9972110 [GRCh38] Chr1:10032168 [GRCh37] Chr1:1p36.22 |
pathogenic|likely pathogenic|likely benign|uncertain significance |
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV004649113]|Leber congenital amaurosis 9 [RCV000030768]|not provided [RCV000255071] |
Chr1:9982368 [GRCh38] Chr1:10042426 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.599C>T (p.Ser200Leu) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001229158] |
Chr1:9982460 [GRCh38] Chr1:10042518 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NC_000001.11:g.(?_9981011)_(9982721_?)del |
deletion |
Leber congenital amaurosis 9 [RCV000526077] |
Chr1:9981011..9982721 [GRCh38] Chr1:10041069..10042779 [GRCh37] Chr1:1p36.22 |
pathogenic |
Single allele |
complex |
Breast ductal adenocarcinoma [RCV000207058] |
Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11 |
uncertain significance |
chr1:909238-16736132 complex variant |
complex |
Breast ductal adenocarcinoma [RCV000207094] |
Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13 |
uncertain significance |
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 |
copy number loss |
See cases [RCV000239416] |
Chr1:82154..12699337 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 |
copy number gain |
See cases [RCV000240284] |
Chr1:8255222..12785220 [GRCh37] Chr1:1p36.23-36.21 |
likely pathogenic |
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 |
copy number loss |
See cases [RCV000240403] |
Chr1:746608..15077159 [GRCh37] Chr1:1p36.33-36.21 |
pathogenic |
NM_022787.4(NMNAT1):c.827A>C (p.Glu276Ala) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV000530835] |
Chr1:9982688 [GRCh38] Chr1:10042746 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.109G>A (p.Gly37Arg) |
single nucleotide variant |
not provided [RCV000487717] |
Chr1:9972182 [GRCh38] Chr1:10032240 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.710G>A (p.Arg237His) |
single nucleotide variant |
not provided [RCV000415779] |
Chr1:9982571 [GRCh38] Chr1:10042629 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_001297778.1(NMNAT1):c.(115+1_116-1)_(299+1_300-1)del |
deletion |
Retinal dystrophy [RCV000416284] |
Chr1:1p36.22 |
likely pathogenic |
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1 |
copy number loss |
See cases [RCV000449468] |
Chr1:2817420..10670878 [GRCh37] Chr1:1p36.32-36.22 |
pathogenic |
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 |
copy number loss |
See cases [RCV000446359] |
Chr1:4558588..13187457 [GRCh37] Chr1:1p36.32-36.21 |
pathogenic |
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 |
copy number loss |
See cases [RCV000446470] |
Chr1:2749920..22564787 [GRCh37] Chr1:1p36.32-36.12 |
pathogenic |
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr) |
single nucleotide variant |
Leber congenital amaurosis [RCV000504848] |
Chr1:9982346 [GRCh38] Chr1:10042404 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs) |
duplication |
Leber congenital amaurosis [RCV000504964] |
Chr1:9982521..9982522 [GRCh38] Chr1:10042579..10042580 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001314168]|Leber congenital amaurosis [RCV000504653] |
Chr1:9975631 [GRCh38] Chr1:10035689 [GRCh37] Chr1:1p36.22 |
likely pathogenic|uncertain significance |
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln) |
single nucleotide variant |
Leber congenital amaurosis [RCV000504672] |
Chr1:9982597 [GRCh38] Chr1:10042655 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
GRCh37/hg19 1p36.23-36.22(chr1:7301946-11143298)x3 |
copy number gain |
See cases [RCV000448222] |
Chr1:7301946..11143298 [GRCh37] Chr1:1p36.23-36.22 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV000538650] |
Chr1:9982577 [GRCh38] Chr1:10042635 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.115+3A>G |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV000625321]|NMNAT1-related disorder [RCV003905671]|not provided [RCV003424194]|not specified [RCV001700421] |
Chr1:9972191 [GRCh38] Chr1:10032249 [GRCh37] Chr1:1p36.22 |
benign|likely benign |
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 |
copy number loss |
See cases [RCV000512226] |
Chr1:8850514..16272383 [GRCh37] Chr1:1p36.23-36.13 |
likely pathogenic |
NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys) |
single nucleotide variant |
Cone dystrophy [RCV000664187]|Leber congenital amaurosis 9 [RCV001372429] |
Chr1:9975747 [GRCh38] Chr1:10035805 [GRCh37] Chr1:1p36.22 |
pathogenic|likely pathogenic |
GRCh37/hg19 1p36.22(chr1:9723166-10340866)x3 |
copy number gain |
not provided [RCV000684548] |
Chr1:9723166..10340866 [GRCh37] Chr1:1p36.22 |
uncertain significance |
GRCh37/hg19 1p36.22(chr1:9973927-10036047)x1 |
copy number loss |
not provided [RCV000684549] |
Chr1:9973927..10036047 [GRCh37] Chr1:1p36.22 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NC_000001.11:g.(?_9972074)_(9981247_?)dup |
duplication |
Leber congenital amaurosis 9 [RCV001031840] |
Chr1:10032132..10041305 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.199G>T (p.Val67Phe) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001862682]|not provided [RCV001090801] |
Chr1:9975675 [GRCh38] Chr1:10035733 [GRCh37] Chr1:1p36.22 |
pathogenic|uncertain significance |
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001002029] |
Chr1:9982625 [GRCh38] Chr1:10042683 [GRCh37] Chr1:1p36.22 |
benign|likely benign |
NM_022787.4(NMNAT1):c.104T>C (p.Met35Thr) |
single nucleotide variant |
Retinal dystrophy [RCV001075383] |
Chr1:9972177 [GRCh38] Chr1:10032235 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NC_000001.11:g.(?_9981031)_(9982701_?)dup |
duplication |
Leber congenital amaurosis 9 [RCV004584025] |
Chr1:10041089..10042759 [GRCh37] Chr1:1p36.22 |
pathogenic|uncertain significance |
NM_022787.4(NMNAT1):c.-71G>C |
single nucleotide variant |
Retinal dystrophy [RCV001073535] |
Chr1:9943501 [GRCh38] Chr1:10003559 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV000787026] |
Chr1:9975681 [GRCh38] Chr1:10035739 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.747A>G (p.Glu249=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002537604] |
Chr1:9982608 [GRCh38] Chr1:10042666 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.23A>C (p.Glu8Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004649392]|Leber congenital amaurosis 9 [RCV000981760] |
Chr1:9972096 [GRCh38] Chr1:10032154 [GRCh37] Chr1:1p36.22 |
benign|uncertain significance |
GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1 |
copy number loss |
not provided [RCV001005065] |
Chr1:9852396..11909475 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 |
copy number loss |
See cases [RCV000790592] |
Chr1:82154..11784118 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.493G>A (p.Val165Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002550566]|Leber congenital amaurosis 9 [RCV000981705]|NMNAT1-related disorder [RCV003962951]|not provided [RCV004711489] |
Chr1:9982354 [GRCh38] Chr1:10042412 [GRCh37] Chr1:1p36.22 |
likely benign|uncertain significance |
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001376488]|not provided [RCV001090804] |
Chr1:9982495 [GRCh38] Chr1:10042553 [GRCh37] Chr1:1p36.22 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_022787.4(NMNAT1):c.532G>A (p.Val178Met) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001223249] |
Chr1:9982393 [GRCh38] Chr1:10042451 [GRCh37] Chr1:1p36.22 |
likely pathogenic|uncertain significance |
NM_022787.4(NMNAT1):c.163T>A (p.Tyr55Asn) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001240307] |
Chr1:9975639 [GRCh38] Chr1:10035697 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.299G>A (p.Arg100Lys) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001221606] |
Chr1:9975775 [GRCh38] Chr1:10035833 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.13G>A (p.Glu5Lys) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001241800] |
Chr1:9972086 [GRCh38] Chr1:10032144 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.78G>A (p.Arg26=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002066335] |
Chr1:9972151 [GRCh38] Chr1:10032209 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.447A>C (p.Pro149=) |
single nucleotide variant |
not provided [RCV000926901] |
Chr1:9982308 [GRCh38] Chr1:10042366 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr) |
single nucleotide variant |
Leber congenital amaurosis [RCV001199715] |
Chr1:9982490 [GRCh38] Chr1:10042548 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.370G>A (p.Gly124Arg) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001230292] |
Chr1:9981101 [GRCh38] Chr1:10041159 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.473A>T (p.Asp158Val) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001202762] |
Chr1:9982334 [GRCh38] Chr1:10042392 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.364del (p.Arg122fs) |
deletion |
Leber congenital amaurosis 9 [RCV001256643]|not provided [RCV001090802] |
Chr1:9981093 [GRCh38] Chr1:10041151 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001048869]|Retinal dystrophy [RCV001073738] |
Chr1:9982570 [GRCh38] Chr1:10042628 [GRCh37] Chr1:1p36.22 |
pathogenic|likely pathogenic |
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256659]|Retinal dystrophy [RCV001074108]|Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [RCV002221606]|not provided [RCV001551709] |
Chr1:9975769 [GRCh38] Chr1:10035827 [GRCh37] Chr1:1p36.22 |
pathogenic|likely pathogenic |
NM_022787.4(NMNAT1):c.471A>G (p.Ala157=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001001280] |
Chr1:9982332 [GRCh38] Chr1:10042390 [GRCh37] Chr1:1p36.22 |
benign|likely benign |
NC_000001.10:g.(?_9770494)_(10690064_?)del |
deletion |
Immunodeficiency 14 [RCV001031897] |
Chr1:9770494..10690064 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001248040] |
Chr1:9975681 [GRCh38] Chr1:10035739 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln) |
single nucleotide variant |
Cone-rod dystrophy [RCV001199714]|Leber congenital amaurosis 9 [RCV001862732]|Retinal dystrophy [RCV001073398] |
Chr1:9982541 [GRCh38] Chr1:10042599 [GRCh37] Chr1:1p36.22 |
pathogenic|likely pathogenic|uncertain significance |
NM_022787.4(NMNAT1):c.837A>G (p.Thr279=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001053118] |
Chr1:9982698 [GRCh38] Chr1:10042756 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256642] |
Chr1:9975655 [GRCh38] Chr1:10035713 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NC_000001.11:g.(?_9972074)_(9975775_?)del |
deletion |
Leber congenital amaurosis 9 [RCV001256655] |
Chr1:9972074..9975775 [GRCh38] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.376A>T (p.Lys126Ter) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256661] |
Chr1:9981107 [GRCh38] Chr1:10041165 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.518A>G (p.Asp173Gly) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256664] |
Chr1:9982379 [GRCh38] Chr1:10042437 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.647G>C (p.Trp216Ser) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256666] |
Chr1:9982508 [GRCh38] Chr1:10042566 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.-69C>T |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256639] |
Chr1:9943503 [GRCh38] Chr1:10003561 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.717G>T (p.Leu239Phe) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256646] |
Chr1:9982578 [GRCh38] Chr1:10042636 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.500A>T (p.Asn167Ile) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256647] |
Chr1:9982361 [GRCh38] Chr1:10042419 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256658] |
Chr1:9975720 [GRCh38] Chr1:10035778 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.319G>T (p.Glu107Ter) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256660] |
Chr1:9981050 [GRCh38] Chr1:10041108 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256667] |
Chr1:9982613 [GRCh38] Chr1:10042671 [GRCh37] Chr1:1p36.22 |
likely pathogenic|uncertain significance |
NM_022787.4(NMNAT1):c.458T>C (p.Leu153Pro) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256644] |
Chr1:9982319 [GRCh38] Chr1:10042377 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.439G>C (p.Ala147Pro) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256662] |
Chr1:9981170 [GRCh38] Chr1:10041228 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256645] |
Chr1:9982403 [GRCh38] Chr1:10042461 [GRCh37] Chr1:1p36.22 |
likely pathogenic|uncertain significance |
NM_022787.4(NMNAT1):c.-57+4A>G |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256652] |
Chr1:9943519 [GRCh38] Chr1:10003577 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.238G>A (p.Val80Met) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256657] |
Chr1:9975714 [GRCh38] Chr1:10035772 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.-57+10C>T |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256648] |
Chr1:9943525 [GRCh38] Chr1:10003583 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.650T>A (p.Ile217Asn) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256650] |
Chr1:9982511 [GRCh38] Chr1:10042569 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.439+1G>C |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256663] |
Chr1:9981171 [GRCh38] Chr1:10041229 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.593A>G (p.Tyr198Cys) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256649] |
Chr1:9982454 [GRCh38] Chr1:10042512 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.-72G>A |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256651] |
Chr1:9943500 [GRCh38] Chr1:10003558 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.643G>T (p.Glu215Ter) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256665] |
Chr1:9982504 [GRCh38] Chr1:10042562 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.1A>G (p.Met1Val) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256656] |
Chr1:9972074 [GRCh38] Chr1:10032132 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.-57G>T |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001256653] |
Chr1:9943515 [GRCh38] Chr1:10003573 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NC_000001.11:g.(?_9972074)_(9972188_?)del |
deletion |
Leber congenital amaurosis 9 [RCV001256654] |
Chr1:9972074..9972188 [GRCh38] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.387G>T (p.Trp129Cys) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001301650] |
Chr1:9981118 [GRCh38] Chr1:10041176 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.500A>G (p.Asn167Ser) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001372427]|not provided [RCV001780269] |
Chr1:9982361 [GRCh38] Chr1:10042419 [GRCh37] Chr1:1p36.22 |
pathogenic|likely pathogenic |
NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001372430]|Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [RCV003339625] |
Chr1:9975721 [GRCh38] Chr1:10035779 [GRCh37] Chr1:1p36.22 |
pathogenic|likely pathogenic |
NM_022787.4(NMNAT1):c.106A>G (p.Asn36Asp) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001361669] |
Chr1:9972179 [GRCh38] Chr1:10032237 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.589A>G (p.Ile197Val) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001369067] |
Chr1:9982450 [GRCh38] Chr1:10042508 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.299+526_*968dup |
duplication |
Leber congenital amaurosis 9 [RCV001358653]|Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [RCV001358652] |
Chr1:9976248..9976249 [GRCh38] Chr1:10036306..10036307 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.833A>C (p.Lys278Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002550023]|Leber congenital amaurosis 9 [RCV001362039] |
Chr1:9982694 [GRCh38] Chr1:10042752 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.184C>A (p.Pro62Thr) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001344745] |
Chr1:9975660 [GRCh38] Chr1:10035718 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.516A>T (p.Glu172Asp) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001324028] |
Chr1:9982377 [GRCh38] Chr1:10042435 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.547C>T (p.Leu183Phe) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001340858]|not provided [RCV003132433] |
Chr1:9982408 [GRCh38] Chr1:10042466 [GRCh37] Chr1:1p36.22 |
likely pathogenic|uncertain significance |
NM_022787.4(NMNAT1):c.793G>A (p.Val265Ile) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001344158] |
Chr1:9982654 [GRCh38] Chr1:10042712 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.763A>G (p.Ser255Gly) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001347287] |
Chr1:9982624 [GRCh38] Chr1:10042682 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.22G>A (p.Glu8Lys) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001322712] |
Chr1:9972095 [GRCh38] Chr1:10032153 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.512G>A (p.Ser171Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003246864]|Leber congenital amaurosis 9 [RCV001309383] |
Chr1:9982373 [GRCh38] Chr1:10042431 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NC_000001.10:g.(?_10041089)_(10042759_?)dup |
duplication |
Leber congenital amaurosis 9 [RCV001301195] |
Chr1:10041089..10042759 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.610T>G (p.Trp204Gly) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001325237] |
Chr1:9982471 [GRCh38] Chr1:10042529 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.206T>A (p.Met69Lys) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001298280] |
Chr1:9975682 [GRCh38] Chr1:10035740 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.664T>A (p.Ser222Thr) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001369006] |
Chr1:9982525 [GRCh38] Chr1:10042583 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.439+5G>T |
single nucleotide variant |
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [RCV001358654] |
Chr1:9981175 [GRCh38] Chr1:10041233 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.366G>A (p.Arg122=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001486126] |
Chr1:9981097 [GRCh38] Chr1:10041155 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.440-16G>T |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001517051] |
Chr1:9982285 [GRCh38] Chr1:10042343 [GRCh37] Chr1:1p36.22 |
benign |
NM_022787.4(NMNAT1):c.531C>T (p.Ile177=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001474727] |
Chr1:9982392 [GRCh38] Chr1:10042450 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.126A>G (p.Thr42=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001427239] |
Chr1:9975602 [GRCh38] Chr1:10035660 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.66C>T (p.Asn22=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001446289] |
Chr1:9972139 [GRCh38] Chr1:10032197 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.196C>T (p.Arg66Trp) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001381857] |
Chr1:9975672 [GRCh38] Chr1:10035730 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.316T>C (p.Leu106=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001398711] |
Chr1:9981047 [GRCh38] Chr1:10041105 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.300-5T>C |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001402894] |
Chr1:9981026 [GRCh38] Chr1:10041084 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.372A>G (p.Gly124=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001461980] |
Chr1:9981103 [GRCh38] Chr1:10041161 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.115+8C>G |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001453345] |
Chr1:9972196 [GRCh38] Chr1:10032254 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.12C>T (p.Ser4=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001487168] |
Chr1:9972085 [GRCh38] Chr1:10032143 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.651C>T (p.Ile217=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001457379] |
Chr1:9982512 [GRCh38] Chr1:10042570 [GRCh37] Chr1:1p36.22 |
likely benign |
NC_000001.10:g.(?_10027411)_(10042759_?)del |
deletion |
Leber congenital amaurosis 9 [RCV001384016] |
Chr1:10027411..10042759 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.216T>C (p.Leu72=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001398708] |
Chr1:9975692 [GRCh38] Chr1:10035750 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.466G>A (p.Gly156Arg) |
single nucleotide variant |
not provided [RCV001816042] |
Chr1:9982327 [GRCh38] Chr1:10042385 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.480G>C (p.Leu160Phe) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002025549] |
Chr1:9982341 [GRCh38] Chr1:10042399 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.554G>A (p.Cys185Tyr) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001929791] |
Chr1:9982415 [GRCh38] Chr1:10042473 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NC_000001.10:g.(?_10035630)_(10041248_?)del |
deletion |
Leber congenital amaurosis 9 [RCV001929292] |
Chr1:10035630..10041248 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.620G>A (p.Arg207Gln) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001914564] |
Chr1:9982481 [GRCh38] Chr1:10042539 [GRCh37] Chr1:1p36.22 |
uncertain significance |
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 |
copy number loss |
not provided [RCV001832902] |
Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13 |
pathogenic |
NM_022787.4(NMNAT1):c.553T>C (p.Cys185Arg) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001913630] |
Chr1:9982414 [GRCh38] Chr1:10042472 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.115+1G>A |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002003843] |
Chr1:9972189 [GRCh38] Chr1:10032247 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.94A>G (p.Lys32Glu) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001910943] |
Chr1:9972167 [GRCh38] Chr1:10032225 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NC_000001.10:g.(?_10041069)_(10041248_?)del |
deletion |
Leber congenital amaurosis 9 [RCV002007343] |
Chr1:10041069..10041248 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.469del (p.Ala157fs) |
deletion |
Leber congenital amaurosis 9 [RCV001965023] |
Chr1:9982327 [GRCh38] Chr1:10042385 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.524C>T (p.Thr175Ile) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001965480] |
Chr1:9982385 [GRCh38] Chr1:10042443 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.578C>T (p.Ala193Val) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001872827] |
Chr1:9982439 [GRCh38] Chr1:10042497 [GRCh37] Chr1:1p36.22 |
uncertain significance |
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804) |
copy number loss |
Chromosome 1p36 deletion syndrome, proximal [RCV002280717] |
Chr1:849466..10258804 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.491C>T (p.Ala164Val) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001985096] |
Chr1:9982352 [GRCh38] Chr1:10042410 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NC_000001.10:g.(?_6485016)_(12569078_?)del |
deletion |
not provided [RCV001940096] |
Chr1:6485016..12569078 [GRCh37] Chr1:1p36.31-36.22 |
uncertain significance |
NC_000001.10:g.(?_10032132)_(10041248_?)dup |
duplication |
Leber congenital amaurosis 9 [RCV001943177] |
Chr1:10032132..10041248 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.38C>A (p.Ala13Asp) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001888185] |
Chr1:9972111 [GRCh38] Chr1:10032169 [GRCh37] Chr1:1p36.22 |
likely pathogenic|uncertain significance |
NM_022787.4(NMNAT1):c.116-2A>G |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001972231] |
Chr1:9975590 [GRCh38] Chr1:10035648 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.410A>T (p.Gln137Leu) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001887583] |
Chr1:9981141 [GRCh38] Chr1:10041199 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.213A>C (p.Glu71Asp) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001883106] |
Chr1:9975689 [GRCh38] Chr1:10035747 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.550A>G (p.Ile184Val) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001933093] |
Chr1:9982411 [GRCh38] Chr1:10042469 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NC_000001.10:g.(?_10003560)_(11346188_?)del |
deletion |
Peroxisome biogenesis disorder, complementation group K [RCV001994817] |
Chr1:10003560..11346188 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.563G>A (p.Arg188Gln) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002029244] |
Chr1:9982424 [GRCh38] Chr1:10042482 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.18G>T (p.Lys6Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003289251]|Leber congenital amaurosis 9 [RCV001939010] |
Chr1:9972091 [GRCh38] Chr1:10032149 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.393_394del (p.Glu131fs) |
deletion |
Leber congenital amaurosis 9 [RCV001919087] |
Chr1:9981123..9981124 [GRCh38] Chr1:10041181..10041182 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.676del (p.Ile226fs) |
deletion |
Leber congenital amaurosis 9 [RCV001921450] |
Chr1:9982533 [GRCh38] Chr1:10042591 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.503T>G (p.Leu168Trp) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001960908] |
Chr1:9982364 [GRCh38] Chr1:10042422 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NC_000001.10:g.(?_8616514)_(12476900_?)dup |
duplication |
Immunodeficiency 14 [RCV001920571] |
Chr1:8616514..12476900 [GRCh37] Chr1:1p36.23-36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.391G>A (p.Glu131Lys) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001917943] |
Chr1:9981122 [GRCh38] Chr1:10041180 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NC_000001.10:g.(?_10003560)_(10042759_?)dup |
duplication |
Leber congenital amaurosis 9 [RCV001980157] |
Chr1:10003560..10042759 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.829G>A (p.Ala277Thr) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001904851] |
Chr1:9982690 [GRCh38] Chr1:10042748 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.255G>A (p.Trp85Ter) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001958992] |
Chr1:9975731 [GRCh38] Chr1:10035789 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.397C>A (p.Gln133Lys) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001989788] |
Chr1:9981128 [GRCh38] Chr1:10041186 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.520A>G (p.Ile174Val) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001982122] |
Chr1:9982381 [GRCh38] Chr1:10042439 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NC_000001.10:g.(?_10003560)_(10035853_?)dup |
duplication |
Leber congenital amaurosis 9 [RCV001976831] |
Chr1:10003560..10035853 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.154G>C (p.Gly52Arg) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV001957037] |
Chr1:9975630 [GRCh38] Chr1:10035688 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.435A>G (p.Thr145=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002088653] |
Chr1:9981166 [GRCh38] Chr1:10041224 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.299+12G>T |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002087528] |
Chr1:9975787 [GRCh38] Chr1:10035845 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.299+13T>G |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002169782] |
Chr1:9975788 [GRCh38] Chr1:10035846 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.462G>A (p.Leu154=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002114232] |
Chr1:9982323 [GRCh38] Chr1:10042381 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.654T>C (p.Ala218=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002172239] |
Chr1:9982515 [GRCh38] Chr1:10042573 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.108T>C (p.Asn36=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002206982] |
Chr1:9972181 [GRCh38] Chr1:10032239 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.603T>C (p.Asp201=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002131164] |
Chr1:9982464 [GRCh38] Chr1:10042522 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.300-10T>G |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002076783] |
Chr1:9981021 [GRCh38] Chr1:10041079 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.300-4A>G |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002218355] |
Chr1:9981027 [GRCh38] Chr1:10041085 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.299+19_299+21dup |
duplication |
Leber congenital amaurosis 9 [RCV002216881] |
Chr1:9975793..9975794 [GRCh38] Chr1:10035851..10035852 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.439+7A>G |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002099769] |
Chr1:9981177 [GRCh38] Chr1:10041235 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.88C>T (p.Leu30=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002161185] |
Chr1:9972161 [GRCh38] Chr1:10032219 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.633C>T (p.His211=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002201778] |
Chr1:9982494 [GRCh38] Chr1:10042552 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.624C>T (p.Ser208=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002081586] |
Chr1:9982485 [GRCh38] Chr1:10042543 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.116-11T>C |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002140361] |
Chr1:9975581 [GRCh38] Chr1:10035639 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.115+15C>T |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002177161] |
Chr1:9972203 [GRCh38] Chr1:10032261 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.75C>A (p.Leu25=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002219941] |
Chr1:9972148 [GRCh38] Chr1:10032206 [GRCh37] Chr1:1p36.22 |
likely benign |
NC_000001.10:g.(?_9770514)_(11264780_?)del |
deletion |
Immunodeficiency 14 [RCV003116291] |
Chr1:9770514..11264780 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NC_000001.10:g.(?_10032132)_(10032266_?)del |
deletion |
Leber congenital amaurosis 9 [RCV003111510] |
Chr1:10032132..10032266 [GRCh37] Chr1:1p36.22 |
pathogenic |
NC_000001.10:g.(?_10032132)_(10035853_?)del |
deletion |
Leber congenital amaurosis 9 [RCV003111511] |
Chr1:10032132..10035853 [GRCh37] Chr1:1p36.22 |
pathogenic |
NC_000001.10:g.(?_10027411)_(10045246_?)del |
deletion |
Leber congenital amaurosis 9 [RCV003111512] |
Chr1:10027411..10045246 [GRCh37] Chr1:1p36.22 |
pathogenic |
NC_000001.10:g.(?_10041069)_(10042759_?)del |
deletion |
Leber congenital amaurosis 9 [RCV003111513] |
Chr1:10041069..10042759 [GRCh37] Chr1:1p36.22 |
pathogenic |
NC_000001.10:g.(?_9304994)_(12569078_?)dup |
duplication |
Charcot-Marie-Tooth disease type 2 [RCV003119499] |
Chr1:9304994..12569078 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NC_000001.10:g.4481271_20530242del |
deletion |
Chromosome 1p36 deletion syndrome [RCV003159574] |
Chr1:4481271..20530242 [GRCh37] Chr1:1p36.32-36.12 |
pathogenic |
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 |
copy number loss |
not provided [RCV002473951] |
Chr1:849467..12448956 [GRCh37] Chr1:1p36.33-36.22 |
pathogenic |
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 |
copy number loss |
not provided [RCV002474779] |
Chr1:6758933..19287770 [GRCh37] Chr1:1p36.31-36.13 |
pathogenic |
NM_022787.4(NMNAT1):c.793dup (p.Val265fs) |
duplication |
Leber congenital amaurosis 9 [RCV002616789] |
Chr1:9982650..9982651 [GRCh38] Chr1:10042708..10042709 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.827A>T (p.Glu276Val) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002842229] |
Chr1:9982688 [GRCh38] Chr1:10042746 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.691A>C (p.Arg231=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002843043] |
Chr1:9982552 [GRCh38] Chr1:10042610 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.768T>C (p.Ser256=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002978973] |
Chr1:9982629 [GRCh38] Chr1:10042687 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.115+16A>G |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003078594] |
Chr1:9972204 [GRCh38] Chr1:10032262 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.383A>G (p.Lys128Arg) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002621955] |
Chr1:9981114 [GRCh38] Chr1:10041172 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.59T>C (p.Ile20Thr) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003038879] |
Chr1:9972132 [GRCh38] Chr1:10032190 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.115+14C>T |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002658778] |
Chr1:9972202 [GRCh38] Chr1:10032260 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.165C>G (p.Tyr55Ter) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003007154] |
Chr1:9975641 [GRCh38] Chr1:10035699 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.543T>C (p.Tyr181=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002575923] |
Chr1:9982404 [GRCh38] Chr1:10042462 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.91G>T (p.Ala31Ser) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002791603] |
Chr1:9972164 [GRCh38] Chr1:10032222 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.606G>A (p.Val202=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002701003] |
Chr1:9982467 [GRCh38] Chr1:10042525 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.253T>C (p.Trp85Arg) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003526221]|not provided [RCV002508714] |
Chr1:9975729 [GRCh38] Chr1:10035787 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.628A>G (p.Ile210Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002804630] |
Chr1:9982489 [GRCh38] Chr1:10042547 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.115+1G>C |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002625004] |
Chr1:9972189 [GRCh38] Chr1:10032247 [GRCh37] Chr1:1p36.22 |
likely pathogenic |
NM_022787.4(NMNAT1):c.191A>G (p.Tyr64Cys) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003088066] |
Chr1:9975667 [GRCh38] Chr1:10035725 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.38C>G (p.Ala13Gly) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003064927] |
Chr1:9972111 [GRCh38] Chr1:10032169 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.167A>G (p.Lys56Arg) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003027014] |
Chr1:9975643 [GRCh38] Chr1:10035701 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.59T>A (p.Ile20Asn) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002648122] |
Chr1:9972132 [GRCh38] Chr1:10032190 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.57C>T (p.Pro19=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002647928] |
Chr1:9972130 [GRCh38] Chr1:10032188 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.128T>A (p.Val43Asp) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003027242] |
Chr1:9975604 [GRCh38] Chr1:10035662 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.455A>G (p.Lys152Arg) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV002631516] |
Chr1:9982316 [GRCh38] Chr1:10042374 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.648G>A (p.Trp216Ter) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003048100] |
Chr1:9982509 [GRCh38] Chr1:10042567 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.-57+2T>C |
single nucleotide variant |
not provided [RCV003222601] |
Chr1:9943517 [GRCh38] Chr1:10003575 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.193C>T (p.His65Tyr) |
single nucleotide variant |
not provided [RCV003222602] |
Chr1:9975669 [GRCh38] Chr1:10035727 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.641A>T (p.Asn214Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003359771] |
Chr1:9982502 [GRCh38] Chr1:10042560 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.724G>T (p.Asp242Tyr) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003873703] |
Chr1:9982585 [GRCh38] Chr1:10042643 [GRCh37] Chr1:1p36.22 |
uncertain significance |
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 |
copy number gain |
Trisomy 12p [RCV003447845] |
Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1 |
pathogenic |
NM_022787.4(NMNAT1):c.51C>A (p.Phe17Leu) |
single nucleotide variant |
not provided [RCV003488151] |
Chr1:9972124 [GRCh38] Chr1:10032182 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.120G>T (p.Arg40Ser) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003525659] |
Chr1:9975596 [GRCh38] Chr1:10035654 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.453C>G (p.Val151=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003527107] |
Chr1:9982314 [GRCh38] Chr1:10042372 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.721C>T (p.Pro241Ser) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003527180] |
Chr1:9982582 [GRCh38] Chr1:10042640 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.439+12T>C |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003816859] |
Chr1:9981182 [GRCh38] Chr1:10041240 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.792G>A (p.Gly264=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003840300] |
Chr1:9982653 [GRCh38] Chr1:10042711 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.254G>A (p.Trp85Ter) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003639347] |
Chr1:9975730 [GRCh38] Chr1:10035788 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.282_283del (p.Glu94fs) |
microsatellite |
Leber congenital amaurosis 9 [RCV003640316] |
Chr1:9975755..9975756 [GRCh38] Chr1:10035813..10035814 [GRCh37] Chr1:1p36.22 |
pathogenic |
NM_022787.4(NMNAT1):c.468G>A (p.Gly156=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003640206] |
Chr1:9982329 [GRCh38] Chr1:10042387 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.832A>G (p.Lys278Glu) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003640315] |
Chr1:9982693 [GRCh38] Chr1:10042751 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.654T>G (p.Ala218=) |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003638547] |
Chr1:9982515 [GRCh38] Chr1:10042573 [GRCh37] Chr1:1p36.22 |
likely benign |
GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1 |
copy number loss |
not specified [RCV003987128] |
Chr1:6330828..12910774 [GRCh37] Chr1:1p36.31-36.21 |
pathogenic |
NM_022787.4(NMNAT1):c.300-12G>C |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003639581] |
Chr1:9981019 [GRCh38] Chr1:10041077 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.299+19A>G |
single nucleotide variant |
Leber congenital amaurosis 9 [RCV003639709] |
Chr1:9975794 [GRCh38] Chr1:10035852 [GRCh37] Chr1:1p36.22 |
likely benign |
NM_022787.4(NMNAT1):c.532G>C (p.Val178Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004495709] |
Chr1:9982393 [GRCh38] Chr1:10042451 [GRCh37] Chr1:1p36.22 |
uncertain significance |
NM_022787.4(NMNAT1):c.439+101A>G |
single nucleotide variant |
EBV-positive nodal T- and NK-cell lymphoma [RCV004557841] |
Chr1:9981271 [GRCh38] Chr1:10041329 [GRCh37] Chr1:1p36.22 |
likely benign |
GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2 |
copy number loss |
not provided [RCV004577440] |
Chr1:4436802..22782007 [GRCh37] Chr1:1p36.32-36.12 |
pathogenic |
NC_000001.10:g.(?_5923325)_(12071622_?)del |
deletion |
not provided [RCV004579132] |
Chr1:5923325..12071622 [GRCh37] Chr1:1p36.31-36.22 |
uncertain significance |