NM_020041.3(SLC2A9):c.681+15836T>C |
single nucleotide variant |
Uric acid concentration, serum, quantitative trait locus 2 [RCV000004856] |
Chr4:9964756 [GRCh38] Chr4:9966380 [GRCh37] Chr4:4p16.1 |
association |
NM_020041.3(SLC2A9):c.410+4190G>A |
single nucleotide variant |
Uric acid concentration, serum, quantitative trait locus 2 [RCV000004857] |
Chr4:9992591 [GRCh38] Chr4:9992591..9992592 [GRCh38] Chr4:9994215 [GRCh37] Chr4:9994215..9994216 [GRCh37] Chr4:4p16.1 |
association |
NM_020041.3(SLC2A9):c.814+8793= |
single nucleotide variant |
Uric acid concentration, serum, quantitative trait locus 2 [RCV000004858] |
Chr4:9933120 [GRCh38] Chr4:9934744 [GRCh37] Chr4:4p16.1 |
association |
NM_000798.5(DRD5):c.262C>T (p.Leu88Phe) |
single nucleotide variant |
DRD5-related disorder [RCV003938093]|not provided [RCV004717713]|not specified [RCV000727613] |
Chr4:9782291 [GRCh38] Chr4:9783915 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000004859]|not provided [RCV002512777] |
Chr4:9890687 [GRCh38] Chr4:9892311 [GRCh37] Chr4:4p16.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_020041.3(SLC2A9):c.592C>T (p.Arg198Cys) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000004860]|not provided [RCV001851656] |
Chr4:9980681 [GRCh38] Chr4:9982305 [GRCh37] Chr4:4p16.1 |
pathogenic|likely benign|uncertain significance |
NM_020041.3(SLC2A9):c.1235C>G (p.Pro412Arg) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000004861] |
Chr4:9887623 [GRCh38] Chr4:9889247 [GRCh37] Chr4:4p16.1 |
pathogenic |
GRCh38/hg38 4p16.1(chr4:9381969-10163409)x3 |
copy number gain |
See cases [RCV000051567] |
Chr4:9381969..10163409 [GRCh38] Chr4:9383695..10165033 [GRCh37] Chr4:8992793..9774131 [NCBI36] Chr4:4p16.1 |
uncertain significance |
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 |
copy number loss |
See cases [RCV000051642] |
Chr4:72555..28066309 [GRCh38] Chr4:72447..28067931 [GRCh37] Chr4:62447..27677029 [NCBI36] Chr4:4p16.3-15.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 |
copy number loss |
See cases [RCV000051614] |
Chr4:56878..14499760 [GRCh38] Chr4:56772..14501384 [GRCh37] Chr4:46772..14110482 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] |
Chr4:51519..26519788 [GRCh38] Chr4:51413..26521410 [GRCh37] Chr4:41413..26130508 [NCBI36] Chr4:4p16.3-15.2 |
pathogenic |
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 |
copy number gain |
See cases [RCV000051753] |
Chr4:72555..33130620 [GRCh38] Chr4:72447..33132242 [GRCh37] Chr4:62447..32808637 [NCBI36] Chr4:4p16.3-15.1 |
pathogenic |
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 |
copy number gain |
See cases [RCV000051757] |
Chr4:85149..38700366 [GRCh38] Chr4:85040..38701987 [GRCh37] Chr4:75040..38378382 [NCBI36] Chr4:4p16.3-14 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] |
Chr4:2231690..11197847 [GRCh38] Chr4:2233417..11199471 [GRCh37] Chr4:2203215..10808569 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] |
Chr4:72555..10004195 [GRCh38] Chr4:72447..10005819 [GRCh37] Chr4:62447..9614917 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 |
copy number gain |
See cases [RCV000051755] |
Chr4:85149..22450018 [GRCh38] Chr4:85040..22451641 [GRCh37] Chr4:75040..22060739 [NCBI36] Chr4:4p16.3-15.2 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] |
Chr4:72555..11610824 [GRCh38] Chr4:72447..11612448 [GRCh37] Chr4:62447..11221546 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.1(chr4:9946194-10938417)x3 |
copy number gain |
See cases [RCV000051759] |
Chr4:9946194..10938417 [GRCh38] Chr4:9947818..10940041 [GRCh37] Chr4:9556916..10549139 [NCBI36] Chr4:4p16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 |
copy number loss |
See cases [RCV000051679] |
Chr4:85149..17486742 [GRCh38] Chr4:85040..17488365 [GRCh37] Chr4:75040..17097463 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 |
copy number gain |
See cases [RCV000051743] |
Chr4:51319..10250807 [GRCh38] Chr4:51213..10252431 [GRCh37] Chr4:41213..9861529 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.2-16.1(chr4:5455628-10640216)x1 |
copy number loss |
See cases [RCV000053262] |
Chr4:5455628..10640216 [GRCh38] Chr4:5457355..10641840 [GRCh37] Chr4:5508256..10250938 [NCBI36] Chr4:4p16.2-16.1 |
pathogenic |
GRCh38/hg38 4p16.1(chr4:9946394-10449826)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054038]|See cases [RCV000054038] |
Chr4:9946394..10449826 [GRCh38] Chr4:9948018..10451450 [GRCh37] Chr4:9557116..10060548 [NCBI36] Chr4:4p16.1 |
uncertain significance |
NM_001001290.1(SLC2A9):c.972C>T (p.Ile324=) |
single nucleotide variant |
Malignant melanoma [RCV000066582] |
Chr4:9908289 [GRCh38] Chr4:9909913 [GRCh37] Chr4:9519011 [NCBI36] Chr4:4p16.1 |
not provided |
NM_000798.4(DRD5):c.568G>T (p.Gly190Trp) |
single nucleotide variant |
Malignant melanoma [RCV000061071] |
Chr4:9782597 [GRCh38] Chr4:9784221 [GRCh37] Chr4:9393319 [NCBI36] Chr4:4p16.1 |
not provided |
NM_000798.4(DRD5):c.769C>T (p.Arg257Cys) |
single nucleotide variant |
Malignant melanoma [RCV000066577] |
Chr4:9782798 [GRCh38] Chr4:9784422 [GRCh37] Chr4:9393520 [NCBI36] Chr4:4p16.1 |
not provided |
NM_020041.3(SLC2A9):c.1240C>T (p.Leu414=) |
single nucleotide variant |
not provided [RCV000122562] |
Chr4:9887618 [GRCh38] Chr4:9889242 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.593G>A (p.Arg198His) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001327992] |
Chr4:9980680 [GRCh38] Chr4:9982304 [GRCh37] Chr4:4p16.1 |
pathogenic |
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 |
copy number gain |
See cases [RCV000133677] |
Chr4:72555..39477144 [GRCh38] Chr4:72447..39478764 [GRCh37] Chr4:62447..39155159 [NCBI36] Chr4:4p16.3-14 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 |
copy number loss |
See cases [RCV000135336] |
Chr4:78578..10335613 [GRCh38] Chr4:78470..10337237 [GRCh37] Chr4:68470..9946335 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 |
copy number gain |
See cases [RCV000135349] |
Chr4:78578..15625573 [GRCh38] Chr4:78470..15627196 [GRCh37] Chr4:68470..15236294 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 |
copy number loss |
See cases [RCV000135657] |
Chr4:72555..17278013 [GRCh38] Chr4:72447..17279636 [GRCh37] Chr4:62447..16888734 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 |
copy number loss |
See cases [RCV000135532] |
Chr4:72555..15658035 [GRCh38] Chr4:72447..15659658 [GRCh37] Chr4:62447..15268756 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.1(chr4:9813220-10817946)x3 |
copy number gain |
See cases [RCV000136068] |
Chr4:9813220..10817946 [GRCh38] Chr4:9814844..10819570 [GRCh37] Chr4:9423942..10428668 [NCBI36] Chr4:4p16.1 |
uncertain significance |
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 |
copy number loss |
See cases [RCV000137036] |
Chr4:72555..10250666 [GRCh38] Chr4:72447..10252290 [GRCh37] Chr4:62447..9861388 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic|uncertain significance |
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 |
copy number gain |
See cases [RCV000137071] |
Chr4:51519..17798196 [GRCh38] Chr4:51413..17799819 [GRCh37] Chr4:41413..17408917 [NCBI36] Chr4:4p16.3-15.31 |
pathogenic |
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 |
copy number gain |
See cases [RCV000137261] |
Chr4:36424..47491595 [GRCh38] Chr4:36424..47493612 [GRCh37] Chr4:26424..47188369 [NCBI36] Chr4:4p16.3-12 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 |
copy number loss |
See cases [RCV000138198] |
Chr4:72555..12898612 [GRCh38] Chr4:72447..12900236 [GRCh37] Chr4:62447..12509334 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.1(chr4:10011787-10873830)x3 |
copy number gain |
See cases [RCV000137872] |
Chr4:10011787..10873830 [GRCh38] Chr4:10013411..10875454 [GRCh37] Chr4:9622509..10484552 [NCBI36] Chr4:4p16.1 |
uncertain significance |
GRCh38/hg38 4p16.1(chr4:8414872-10011846)x3 |
copy number gain |
See cases [RCV000137908] |
Chr4:8414872..10011846 [GRCh38] Chr4:8416599..10013470 [GRCh37] Chr4:8467499..9622568 [NCBI36] Chr4:4p16.1 |
likely benign |
GRCh38/hg38 4p16.1(chr4:9813220-11009701)x3 |
copy number gain |
See cases [RCV000138398] |
Chr4:9813220..11009701 [GRCh38] Chr4:9814844..11011325 [GRCh37] Chr4:9423942..10620423 [NCBI36] Chr4:4p16.1 |
uncertain significance |
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 |
copy number gain |
See cases [RCV000138305] |
Chr4:72555..21022414 [GRCh38] Chr4:72447..21024037 [GRCh37] Chr4:62447..20633135 [NCBI36] Chr4:4p16.3-15.31 |
pathogenic |
GRCh38/hg38 4p16.1(chr4:9813097-10873771)x3 |
copy number gain |
See cases [RCV000140423] |
Chr4:9813097..10873771 [GRCh38] Chr4:9814721..10875395 [GRCh37] Chr4:9423819..10484493 [NCBI36] Chr4:4p16.1 |
uncertain significance |
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 |
copy number loss |
See cases [RCV000139551] |
Chr4:37335..15869056 [GRCh38] Chr4:37336..15870679 [GRCh37] Chr4:27336..15479777 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 |
copy number loss |
See cases [RCV000141502] |
Chr4:4426403..17460549 [GRCh38] Chr4:4428130..17462172 [GRCh37] Chr4:4479031..17071270 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.1(chr4:9846063-10651440)x3 |
copy number gain |
See cases [RCV000142152] |
Chr4:9846063..10651440 [GRCh38] Chr4:9847687..10653064 [GRCh37] Chr4:9456785..10262162 [NCBI36] Chr4:4p16.1 |
uncertain significance |
GRCh38/hg38 4p16.1(chr4:9369290-10250666)x3 |
copy number gain |
See cases [RCV000142611] |
Chr4:9369290..10250666 [GRCh38] Chr4:9371016..10252290 [GRCh37] Chr4:8980114..9861388 [NCBI36] Chr4:4p16.1 |
uncertain significance |
GRCh38/hg38 4p16.1(chr4:9500007-10147031)x3 |
copy number gain |
See cases [RCV000143287] |
Chr4:9500007..10147031 [GRCh38] Chr4:9501651..10148655 [GRCh37] Chr4:9110749..9757753 [NCBI36] Chr4:4p16.1 |
uncertain significance |
GRCh38/hg38 4p16.1(chr4:9813097-10714839)x3 |
copy number gain |
See cases [RCV000143145] |
Chr4:9813097..10714839 [GRCh38] Chr4:9814721..10716463 [GRCh37] Chr4:9423819..10325561 [NCBI36] Chr4:4p16.1 |
likely benign|uncertain significance |
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 |
copy number loss |
See cases [RCV000143713] |
Chr4:68453..20385608 [GRCh38] Chr4:68345..20387231 [GRCh37] Chr4:58345..19996329 [NCBI36] Chr4:4p16.3-15.31 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 |
copy number loss |
See cases [RCV000143686] |
Chr4:68453..14612453 [GRCh38] Chr4:68345..14614077 [GRCh37] Chr4:58345..14223175 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
NM_020041.3(SLC2A9):c.249+11G>T |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000262726]|not provided [RCV002057899] |
Chr4:10018964 [GRCh38] Chr4:10020588 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.844G>A (p.Val282Ile) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000262922]|not provided [RCV001517997] |
Chr4:9920543 [GRCh38] Chr4:9922167 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1545C>T (p.Ser515=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000263929]|not provided [RCV000882276] |
Chr4:9826475 [GRCh38] Chr4:9828099 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_001001290.1(SLC2A9):c.595_727del |
deletion |
Hypouricemia, renal, 2 [RCV000201279] |
Chr4:9941912..9942046 [GRCh38] Chr4:9943536..9943670 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_020041.3(SLC2A9):c.511C>T (p.Arg171Cys) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000201281] |
Chr4:9985693 [GRCh38] Chr4:9987317 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000201283] |
Chr4:9996817 [GRCh38] Chr4:9998441 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NC_000004.12:g.(?_9826223)_(9908346_9920384)del |
deletion |
Hypouricemia, renal, 2 [RCV000201280] |
Chr4:9826223..9908346 [GRCh38] Chr4:4p16.1 |
pathogenic |
NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000201282]|SLC2A9-related disorder [RCV003417728] |
Chr4:10019000 [GRCh38] Chr4:10020624 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 |
copy number loss |
See cases [RCV000203431] |
Chr4:44020..19796182 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:9842917-10410994)x4 |
copy number gain |
See cases [RCV000449068] |
Chr4:9842917..10410994 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 |
copy number loss |
See cases [RCV000240003] |
Chr4:71552..29006745 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 |
copy number gain |
See cases [RCV000240007] |
Chr4:6447048..20490737 [GRCh37] Chr4:4p16.1-15.31 |
pathogenic |
NM_020041.3(SLC2A9):c.1299C>T (p.Ile433=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000281276]|not provided [RCV001584065] |
Chr4:9835001 [GRCh38] Chr4:9836625 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.883G>A (p.Val295Met) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000268305]|not provided [RCV002520288] |
Chr4:9920504 [GRCh38] Chr4:9922128 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 |
copy number gain |
See cases [RCV000240562] |
Chr4:12440..49064044 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
NM_020041.3(SLC2A9):c.504C>T (p.Ile168=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000269724]|not provided [RCV001509695] |
Chr4:9985700 [GRCh38] Chr4:9987324 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.150+9G>A |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000275421]|not provided [RCV000963431] |
Chr4:10021271 [GRCh38] Chr4:10022895 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.957C>T (p.Thr319=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000271783]|not provided [RCV001458508] |
Chr4:9920430 [GRCh38] Chr4:9922054 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_020041.3(SLC2A9):c.*110G>T |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000272330] |
Chr4:9826287 [GRCh38] Chr4:9827911 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.351C>T (p.Phe117=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000272884]|not provided [RCV002520289] |
Chr4:9996840 [GRCh38] Chr4:9998464 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.73G>A (p.Gly25Arg) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000332816]|not provided [RCV001510423] |
Chr4:10021357 [GRCh38] Chr4:10022981 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1356C>T (p.Ile452=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000375954] |
Chr4:9834944 [GRCh38] Chr4:9836568 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1124T>C (p.Ile375Thr) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000315426] |
Chr4:9890701 [GRCh38] Chr4:9892325 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1368C>T (p.Thr456=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000335406] |
Chr4:9834932 [GRCh38] Chr4:9836556 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_020041.3(SLC2A9):c.1599T>C (p.Asp533=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000377279]|not provided [RCV002057973] |
Chr4:9826421 [GRCh38] Chr4:9828045 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.881G>A (p.Arg294His) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000317105]|not provided [RCV001509694] |
Chr4:9920506 [GRCh38] Chr4:9922130 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.250-9T>C |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000378004]|not provided [RCV001480033] |
Chr4:9996950 [GRCh38] Chr4:9998574 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_020041.3(SLC2A9):c.843C>T (p.Asp281=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000318077]|not provided [RCV005090567] |
Chr4:9920544 [GRCh38] Chr4:9922168 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_020041.3(SLC2A9):c.1399C>A (p.Leu467Ile) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000379460] |
Chr4:9834901 [GRCh38] Chr4:9836525 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1085G>A (p.Gly362Asp) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000403016] |
Chr4:9908263 [GRCh38] Chr4:9909887 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.899G>A (p.Arg300His) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000303472]|SLC2A9-related disorder [RCV003902357]|not provided [RCV000957839] |
Chr4:9920488 [GRCh38] Chr4:9920488..9920489 [GRCh38] Chr4:9922112 [GRCh37] Chr4:9922112..9922113 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.247C>A (p.Pro83Thr) |
single nucleotide variant |
Dalmatian hypouricemia [RCV000320054] |
Chr4:10018977 [GRCh38] Chr4:10020601 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.322T>C (p.Leu108=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000320934]|not provided [RCV001518000] |
Chr4:9996869 [GRCh38] Chr4:9998493 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.666C>T (p.Pro222=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000405411]|not provided [RCV002523495] |
Chr4:9980607 [GRCh38] Chr4:9982231 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.1203G>A (p.Thr401=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000407190]|not provided [RCV002523492] |
Chr4:9890622 [GRCh38] Chr4:9892246 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.1049C>T (p.Pro350Leu) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000306821]|not provided [RCV001509693] |
Chr4:9908299 [GRCh38] Chr4:9909923 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.*129C>A |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000363064] |
Chr4:9826268 [GRCh38] Chr4:9827892 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_020041.3(SLC2A9):c.841G>C (p.Asp281His) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000386577]|not provided [RCV001521714] |
Chr4:9920546 [GRCh38] Chr4:9920546..9920547 [GRCh38] Chr4:9922170 [GRCh37] Chr4:9922170..9922171 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.198C>G (p.Gly66=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000386346]|not provided [RCV002523459] |
Chr4:10019026 [GRCh38] Chr4:10020650 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.824C>T (p.Thr275Met) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000292249]|SLC2A9-related disorder [RCV003922539]|not provided [RCV001513180] |
Chr4:9920563 [GRCh38] Chr4:9922187 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.1413C>A (p.Phe471Leu) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000323781] |
Chr4:9834887 [GRCh38] Chr4:9836511 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.798G>A (p.Glu266=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000387662] |
Chr4:9941929 [GRCh38] Chr4:9943553 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_020041.3(SLC2A9):c.1046C>T (p.Pro349Leu) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000366200]|SLC2A9-related disorder [RCV003912488]|not provided [RCV002058502] |
Chr4:9908302 [GRCh38] Chr4:9909926 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.375G>A (p.Thr125=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000326734]|not provided [RCV001517999] |
Chr4:9996816 [GRCh38] Chr4:9998440 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.72C>T (p.Ala24=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000389783]|not provided [RCV000926073] |
Chr4:10021358 [GRCh38] Chr4:10022982 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.681+13C>T |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000367886]|not provided [RCV002058503] |
Chr4:9980579 [GRCh38] Chr4:9982203 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.567T>C (p.Leu189=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000371270]|not provided [RCV001517998] |
Chr4:9980706 [GRCh38] Chr4:9982330 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1221C>T (p.His407=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000350347]|not provided [RCV003546545] |
Chr4:9887637 [GRCh38] Chr4:9889261 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.1113+9A>C |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000351246]|not provided [RCV001509692] |
Chr4:9908226 [GRCh38] Chr4:9909850 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.809T>C (p.Val270Ala) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000351740]|SLC2A9-related disorder [RCV003922540]|not provided [RCV000903410] |
Chr4:9941918 [GRCh38] Chr4:9943542 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.1392T>C (p.Ala464=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000280256] |
Chr4:9834908 [GRCh38] Chr4:9836532 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs) |
duplication |
Hypouricemia, renal, 2 [RCV000365096]|not provided [RCV001861247] |
Chr4:9996836..9996837 [GRCh38] Chr4:9998460..9998461 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000798.5(DRD5):c.1184C>T (p.Ser395Phe) |
single nucleotide variant |
not provided [RCV000267383] |
Chr4:9783213 [GRCh38] Chr4:9784837 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.978C>T (p.Pro326=) |
single nucleotide variant |
Schizophrenia [RCV003239305] |
Chr4:9783007 [GRCh38] Chr4:9784631 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.879C>G (p.Ser293Arg) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000371768] |
Chr4:9920508 [GRCh38] Chr4:9922132 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.*48C>G |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000327391] |
Chr4:9826349 [GRCh38] Chr4:9827973 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1581C>T (p.Ile527=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001152510] |
Chr4:9826439 [GRCh38] Chr4:9828063 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1466T>C (p.Ile489Thr) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001152511] |
Chr4:9826554 [GRCh38] Chr4:9828178 [GRCh37] Chr4:4p16.1 |
benign |
NC_000004.12:g.8398067_17505522inv |
inversion |
Dihydropteridine reductase deficiency [RCV000768549] |
Chr4:8398067..17505522 [GRCh38] Chr4:4p16.1-15.32 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
not specified [RCV003986479] |
Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 |
copy number loss |
See cases [RCV000449197] |
Chr4:68345..20533787 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:9783445-10679534)x3 |
copy number gain |
See cases [RCV000449135] |
Chr4:9783445..10679534 [GRCh37] Chr4:4p16.1 |
likely benign |
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 |
copy number loss |
See cases [RCV000446287] |
Chr4:68345..15197147 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 |
copy number gain |
See cases [RCV000446451] |
Chr4:68345..49093788 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:8683743-10358964)x3 |
copy number gain |
See cases [RCV000447041] |
Chr4:8683743..10358964 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 |
copy number gain |
See cases [RCV000446653] |
Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 |
copy number loss |
See cases [RCV000448933] |
Chr4:71552..15302739 [GRCh37] Chr4:4p16.3-15.32 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:9688013-10869048)x3 |
copy number gain |
See cases [RCV000448440] |
Chr4:9688013..10869048 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 |
copy number loss |
See cases [RCV000512104] |
Chr4:68345..10336032 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 |
copy number loss |
See cases [RCV000510662] |
Chr4:68345..15973383 [GRCh37] Chr4:4p16.3-15.32 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) |
copy number gain |
See cases [RCV000510453] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:10032249-10885795)x3 |
copy number gain |
See cases [RCV000511401] |
Chr4:10032249..10885795 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 |
copy number loss |
See cases [RCV000511351] |
Chr4:68345..13770107 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 |
copy number gain |
See cases [RCV000511193] |
Chr4:68345..66440622 [GRCh37] Chr4:4p16.3-q13.1 |
pathogenic |
NM_000798.5(DRD5):c.905T>C (p.Met302Thr) |
single nucleotide variant |
not specified [RCV004302190] |
Chr4:9782934 [GRCh38] Chr4:9784558 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.1086C>G (p.Asn362Lys) |
single nucleotide variant |
not provided [RCV000594513] |
Chr4:9783115 [GRCh38] Chr4:9784739 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.1243C>T (p.Pro415Ser) |
single nucleotide variant |
not specified [RCV004316559] |
Chr4:9783272 [GRCh38] Chr4:9784896 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1(chr4:9501650-10040569)x3 |
copy number gain |
See cases [RCV000512407] |
Chr4:9501650..10040569 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 |
copy number gain |
See cases [RCV000512241] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
not provided [RCV000682363] |
Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 |
copy number loss |
not provided [RCV000682373] |
Chr4:4165334..33324781 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:9663395-10653064)x3 |
copy number gain |
not provided [RCV000682384] |
Chr4:9663395..10653064 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1(chr4:9748015-10077638)x3 |
copy number gain |
not provided [RCV000682385] |
Chr4:9748015..10077638 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1(chr4:9501650-9953761)x3 |
copy number gain |
not provided [RCV000682383] |
Chr4:9501650..9953761 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1114-1G>C |
single nucleotide variant |
not provided [RCV000722502] |
Chr4:9890712 [GRCh38] Chr4:9892336 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1(chr4:9485300-10272429)x0 |
copy number loss |
not provided [RCV000743358] |
Chr4:9485300..10272429 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9485300-10274330)x0 |
copy number loss |
not provided [RCV000743359] |
Chr4:9485300..10274330 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9485300-10292034)x0 |
copy number loss |
not provided [RCV000743360] |
Chr4:9485300..10292034 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9486060-10273431)x0 |
copy number loss |
not provided [RCV000743361] |
Chr4:9486060..10273431 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9486060-10274994)x0 |
copy number loss |
not provided [RCV000743362] |
Chr4:9486060..10274994 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9486060-10276250)x0 |
copy number loss |
not provided [RCV000743363] |
Chr4:9486060..10276250 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9486060-10400156)x0 |
copy number loss |
not provided [RCV000743364] |
Chr4:9486060..10400156 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9486060-10409841)x0 |
copy number loss |
not provided [RCV000743365] |
Chr4:9486060..10409841 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9486060-10726103)x0 |
copy number loss |
not provided [RCV000743366] |
Chr4:9486060..10726103 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9486060-10727697)x0 |
copy number loss |
not provided [RCV000743367] |
Chr4:9486060..10727697 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9492403-10310495)x0 |
copy number loss |
not provided [RCV000743368] |
Chr4:9492403..10310495 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9492403-10342028)x0 |
copy number loss |
not provided [RCV000743369] |
Chr4:9492403..10342028 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9492403-10383005)x0 |
copy number loss |
not provided [RCV000743370] |
Chr4:9492403..10383005 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9626304-10274383)x0 |
copy number loss |
not provided [RCV000743371] |
Chr4:9626304..10274383 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9626897-11038982)x0 |
copy number loss |
not provided [RCV000743372] |
Chr4:9626897..11038982 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9832512-10400156)x0 |
copy number loss |
not provided [RCV000743373] |
Chr4:9832512..10400156 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9872364-10136753)x0 |
copy number loss |
not provided [RCV000743374] |
Chr4:9872364..10136753 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9872364-10396125)x0 |
copy number loss |
not provided [RCV000743375] |
Chr4:9872364..10396125 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9951221-9956228)x1 |
copy number loss |
not provided [RCV000743376] |
Chr4:9951221..9956228 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9953086-9953586)x1 |
copy number loss |
not provided [RCV000743377] |
Chr4:9953086..9953586 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9966772-9973243)x1 |
copy number loss |
not provided [RCV000743378] |
Chr4:9966772..9973243 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9967053-9971517)x3 |
copy number gain |
not provided [RCV000743379] |
Chr4:9967053..9971517 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9968684-9971903)x3 |
copy number gain |
not provided [RCV000743380] |
Chr4:9968684..9971903 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9970570-9970962)x0 |
copy number loss |
not provided [RCV000743381] |
Chr4:9970570..9970962 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 |
copy number gain |
not provided [RCV000743155] |
Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 |
copy number gain |
not provided [RCV000743156] |
Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 |
copy number gain |
not provided [RCV000743147] |
Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 |
copy number gain |
not provided [RCV000743201] |
Chr4:1356924..49659859 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:9474235-10271645)x0 |
copy number loss |
not provided [RCV000743302] |
Chr4:9474235..10271645 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10272429)x0 |
copy number loss |
not provided [RCV000743303] |
Chr4:9474235..10272429 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10272591)x0 |
copy number loss |
not provided [RCV000743304] |
Chr4:9474235..10272591 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10272605)x0 |
copy number loss |
not provided [RCV000743305] |
Chr4:9474235..10272605 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10272953)x0 |
copy number loss |
not provided [RCV000743306] |
Chr4:9474235..10272953 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10273244)x0 |
copy number loss |
not provided [RCV000743307] |
Chr4:9474235..10273244 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10273836)x0 |
copy number loss |
not provided [RCV000743308] |
Chr4:9474235..10273836 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10274383)x0 |
copy number loss |
not provided [RCV000743309] |
Chr4:9474235..10274383 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10274626)x0 |
copy number loss |
not provided [RCV000743310] |
Chr4:9474235..10274626 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10274994)x0 |
copy number loss |
not provided [RCV000743311] |
Chr4:9474235..10274994 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10275470)x0 |
copy number loss |
not provided [RCV000743312] |
Chr4:9474235..10275470 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10283627)x0 |
copy number loss |
not provided [RCV000743313] |
Chr4:9474235..10283627 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10284993)x0 |
copy number loss |
not provided [RCV000743314] |
Chr4:9474235..10284993 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10292034)x0 |
copy number loss |
not provided [RCV000743315] |
Chr4:9474235..10292034 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10310495)x0 |
copy number loss |
not provided [RCV000743316] |
Chr4:9474235..10310495 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10311074)x0 |
copy number loss |
not provided [RCV000743317] |
Chr4:9474235..10311074 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10335052)x0 |
copy number loss |
not provided [RCV000743318] |
Chr4:9474235..10335052 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10342028)x0 |
copy number loss |
not provided [RCV000743319] |
Chr4:9474235..10342028 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10342723)x0 |
copy number loss |
not provided [RCV000743320] |
Chr4:9474235..10342723 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10394063)x0 |
copy number loss |
not provided [RCV000743321] |
Chr4:9474235..10394063 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10396125)x0 |
copy number loss |
not provided [RCV000743322] |
Chr4:9474235..10396125 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10402173)x0 |
copy number loss |
not provided [RCV000743327] |
Chr4:9474235..10402173 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.898C>T (p.Arg300Cys) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000358366]|Inborn genetic diseases [RCV002523494]|not provided [RCV002523493] |
Chr4:9920489 [GRCh38] Chr4:9922113 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
GRCh37/hg19 4p16.1(chr4:9474235-10396709)x0 |
copy number loss |
not provided [RCV000743323] |
Chr4:9474235..10396709 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10398081)x0 |
copy number loss |
not provided [RCV000743324] |
Chr4:9474235..10398081 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10399316)x0 |
copy number loss |
not provided [RCV000743325] |
Chr4:9474235..10399316 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10400156)x0 |
copy number loss |
not provided [RCV000743326] |
Chr4:9474235..10400156 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10402457)x0 |
copy number loss |
not provided [RCV000743328] |
Chr4:9474235..10402457 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10419465)x0 |
copy number loss |
not provided [RCV000743329] |
Chr4:9474235..10419465 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10538501)x0 |
copy number loss |
not provided [RCV000743330] |
Chr4:9474235..10538501 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10704867)x0 |
copy number loss |
not provided [RCV000743331] |
Chr4:9474235..10704867 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10706422)x0 |
copy number loss |
not provided [RCV000743332] |
Chr4:9474235..10706422 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10730199)x0 |
copy number loss |
not provided [RCV000743333] |
Chr4:9474235..10730199 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10735895)x0 |
copy number loss |
not provided [RCV000743334] |
Chr4:9474235..10735895 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-10739561)x0 |
copy number loss |
not provided [RCV000743335] |
Chr4:9474235..10739561 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-11016253)x0 |
copy number loss |
not provided [RCV000743336] |
Chr4:9474235..11016253 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9474235-11040290)x0 |
copy number loss |
not provided [RCV000743337] |
Chr4:9474235..11040290 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9476926-10274383)x0 |
copy number loss |
not provided [RCV000743341] |
Chr4:9476926..10274383 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9476332-10324160)x0 |
copy number loss |
not provided [RCV000743338] |
Chr4:9476332..10324160 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9476603-10274383)x0 |
copy number loss |
not provided [RCV000743339] |
Chr4:9476603..10274383 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9476926-10272429)x0 |
copy number loss |
not provided [RCV000743340] |
Chr4:9476926..10272429 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9476926-10275470)x0 |
copy number loss |
not provided [RCV000743342] |
Chr4:9476926..10275470 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9476926-10292034)x0 |
copy number loss |
not provided [RCV000743343] |
Chr4:9476926..10292034 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9476926-10378602)x0 |
copy number loss |
not provided [RCV000743344] |
Chr4:9476926..10378602 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9476926-10396125)x0 |
copy number loss |
not provided [RCV000743345] |
Chr4:9476926..10396125 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9476926-10402457)x0 |
copy number loss |
not provided [RCV000743346] |
Chr4:9476926..10402457 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9476926-10649456)x0 |
copy number loss |
not provided [RCV000743347] |
Chr4:9476926..10649456 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9476926-10739561)x0 |
copy number loss |
not provided [RCV000743348] |
Chr4:9476926..10739561 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9477103-10396125)x0 |
copy number loss |
not provided [RCV000743349] |
Chr4:9477103..10396125 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9477442-10424323)x0 |
copy number loss |
not provided [RCV000743350] |
Chr4:9477442..10424323 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9477503-10274279)x0 |
copy number loss |
not provided [RCV000743351] |
Chr4:9477503..10274279 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9477503-10274626)x0 |
copy number loss |
not provided [RCV000743352] |
Chr4:9477503..10274626 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9477503-10292034)x0 |
copy number loss |
not provided [RCV000743353] |
Chr4:9477503..10292034 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9477503-10396125)x0 |
copy number loss |
not provided [RCV000743354] |
Chr4:9477503..10396125 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9477503-10699551)x0 |
copy number loss |
not provided [RCV000743355] |
Chr4:9477503..10699551 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9477503-10739561)x0 |
copy number loss |
not provided [RCV000743356] |
Chr4:9477503..10739561 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9480235-10335052)x0 |
copy number loss |
not provided [RCV000743357] |
Chr4:9480235..10335052 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 |
copy number gain |
not provided [RCV000743154] |
Chr4:49450..46339070 [GRCh37] Chr4:4p16.3-12 |
pathogenic |
NM_020041.3(SLC2A9):c.249+119G>A |
single nucleotide variant |
not provided [RCV001608732] |
Chr4:10018856 [GRCh38] Chr4:10020480 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.250-40A>G |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001810192]|not provided [RCV001644451] |
Chr4:9996981 [GRCh38] Chr4:9998605 [GRCh37] Chr4:4p16.1 |
benign |
NM_000798.5(DRD5):c.-226G>C |
single nucleotide variant |
not provided [RCV001644104] |
Chr4:9781804 [GRCh38] Chr4:9783428 [GRCh37] Chr4:4p16.1 |
benign |
NM_000798.5(DRD5):c.*47T>C |
single nucleotide variant |
Hereditary attention deficit-hyperactivity disorder [RCV003239295]|not provided [RCV001708682] |
Chr4:9783510 [GRCh38] Chr4:9785134 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_001001290.2(SLC2A9):c.64-2751G>A |
single nucleotide variant |
not provided [RCV001681225] |
Chr4:10021824 [GRCh38] Chr4:10023448 [GRCh37] Chr4:4p16.1 |
benign |
NM_000798.5(DRD5):c.*178G>T |
single nucleotide variant |
not provided [RCV001680485] |
Chr4:9783641 [GRCh38] Chr4:9785265 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1291+197G>A |
single nucleotide variant |
not provided [RCV001690483] |
Chr4:9887370 [GRCh38] Chr4:9888994 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1575G>C (p.Glu525Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003245996] |
Chr4:9826445 [GRCh38] Chr4:9828069 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.123T>C (p.Ser41=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001150995]|SLC2A9-related disorder [RCV003958112]|not provided [RCV000899307] |
Chr4:10021307 [GRCh38] Chr4:10022931 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.168C>G (p.Leu56=) |
single nucleotide variant |
not provided [RCV000928983] |
Chr4:10019056 [GRCh38] Chr4:10020680 [GRCh37] Chr4:4p16.1 |
likely benign |
GRCh37/hg19 4p16.1(chr4:9827438-10939900) |
copy number gain |
not provided [RCV000767791] |
Chr4:9827438..10939900 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_020041.3(SLC2A9):c.512G>A (p.Arg171His) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV000779454] |
Chr4:9985692 [GRCh38] Chr4:9987316 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.759G>A (p.Pro253=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001029920] |
Chr4:9941968 [GRCh38] Chr4:9943592 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1343C>T (p.Pro448Leu) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001030002] |
Chr4:9834957 [GRCh38] Chr4:9836581 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
GRCh37/hg19 4p16.1(chr4:9580088-9972542)x3 |
copy number gain |
not provided [RCV000849261] |
Chr4:9580088..9972542 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.227C>T (p.Ser76Leu) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001150994] |
Chr4:10018997 [GRCh38] Chr4:10020621 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 |
copy number loss |
not provided [RCV001005514] |
Chr4:68345..10312798 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1 |
copy number loss |
not provided [RCV000845896] |
Chr4:3374195..13468480 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:9663649-10767260)x3 |
copy number gain |
not provided [RCV000848809] |
Chr4:9663649..10767260 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 |
copy number gain |
not provided [RCV001005510] |
Chr4:68345..27423424 [GRCh37] Chr4:4p16.3-15.2 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:9794001-9833187)x1 |
copy number loss |
not provided [RCV000848031] |
Chr4:9794001..9833187 [GRCh37] Chr4:4p16.1 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:9540691-10209966)x3 |
copy number gain |
not provided [RCV000848955] |
Chr4:9540691..10209966 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 |
copy number loss |
not provided [RCV001005519] |
Chr4:5914109..17264668 [GRCh37] Chr4:4p16.2-15.32 |
likely pathogenic |
GRCh37/hg19 4p16.1(chr4:9843086-10946046)x3 |
copy number gain |
not provided [RCV000846503] |
Chr4:9843086..10946046 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.50T>G (p.Leu17Arg) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001144892] |
Chr4:10021380 [GRCh38] Chr4:10023004 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1(chr4:9927512-9954773)x1 |
copy number loss |
not provided [RCV000845963] |
Chr4:9927512..9954773 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_000798.5(DRD5):c.1060C>G (p.Leu354Val) |
single nucleotide variant |
not specified [RCV004289001] |
Chr4:9783089 [GRCh38] Chr4:9784713 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.575T>C (p.Ile192Thr) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001156512] |
Chr4:9980698 [GRCh38] Chr4:9982322 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.547A>G (p.Ser183Gly) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001156513] |
Chr4:9980726 [GRCh38] Chr4:9982350 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_001001290.2(SLC2A9):c.-40-13T>C |
single nucleotide variant |
not provided [RCV001662973] |
Chr4:10026019 [GRCh38] Chr4:10027643 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.684G>A (p.Glu228=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV003237316] |
Chr4:9942043 [GRCh38] Chr4:9943667 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1215+173G>T |
single nucleotide variant |
not provided [RCV001671209] |
Chr4:9890437 [GRCh38] Chr4:9892061 [GRCh37] Chr4:4p16.1 |
benign |
NM_001001290.2(SLC2A9):c.63+174G>C |
single nucleotide variant |
not provided [RCV001696028] |
Chr4:10025730 [GRCh38] Chr4:10027354 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.681+187T>C |
single nucleotide variant |
not provided [RCV001639713] |
Chr4:9980405 [GRCh38] Chr4:9982029 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.411-250A>C |
single nucleotide variant |
not provided [RCV001710077] |
Chr4:9986043 [GRCh38] Chr4:9987667 [GRCh37] Chr4:4p16.1 |
benign |
NM_001001290.2(SLC2A9):c.-40-339A>T |
single nucleotide variant |
not provided [RCV001620577] |
Chr4:10026345 [GRCh38] Chr4:10027969 [GRCh37] Chr4:4p16.1 |
benign |
NM_001001290.2(SLC2A9):c.49G>A (p.Ala17Thr) |
single nucleotide variant |
not provided [RCV001670514] |
Chr4:10025918 [GRCh38] Chr4:10027542 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1216-221C>T |
single nucleotide variant |
not provided [RCV001711017] |
Chr4:9887863 [GRCh38] Chr4:9889487 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1291+122G>A |
single nucleotide variant |
not provided [RCV001657000] |
Chr4:9887445 [GRCh38] Chr4:9889069 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1114-89G>C |
single nucleotide variant |
not provided [RCV001574697] |
Chr4:9890800 [GRCh38] Chr4:9892424 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.937G>A (p.Val313Ile) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001156411]|not provided [RCV001210271] |
Chr4:9920450 [GRCh38] Chr4:9922074 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.909C>T (p.Ser303=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001156412]|not provided [RCV002558362] |
Chr4:9920478 [GRCh38] Chr4:9922102 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.1292-6C>T |
single nucleotide variant |
not provided [RCV000912547] |
Chr4:9835014 [GRCh38] Chr4:9836638 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.682-31C>T |
single nucleotide variant |
not provided [RCV001717909] |
Chr4:9942076 [GRCh38] Chr4:9943700 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1292-229A>T |
single nucleotide variant |
not provided [RCV001689339] |
Chr4:9835237 [GRCh38] Chr4:9836861 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9577433-10148655)x3 |
copy number gain |
not provided [RCV002473818] |
Chr4:9577433..10148655 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1(chr4:8724579-9953187)x3 |
copy number gain |
not provided [RCV001005522] |
Chr4:8724579..9953187 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1215+132A>G |
single nucleotide variant |
not provided [RCV001655116] |
Chr4:9890478 [GRCh38] Chr4:9892102 [GRCh37] Chr4:4p16.1 |
benign |
NM_001001290.2(SLC2A9):c.64-2604del |
deletion |
not provided [RCV001687532] |
Chr4:10021677 [GRCh38] Chr4:10023301 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.150+24A>G |
single nucleotide variant |
not provided [RCV001643594] |
Chr4:10021256 [GRCh38] Chr4:10022880 [GRCh37] Chr4:4p16.1 |
benign |
NM_001001290.2(SLC2A9):c.63+18del |
deletion |
not provided [RCV001655165] |
Chr4:10025886 [GRCh38] Chr4:10027510 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.411-305C>T |
single nucleotide variant |
not provided [RCV001715101] |
Chr4:9986098 [GRCh38] Chr4:9987722 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.410+29G>T |
single nucleotide variant |
not provided [RCV001616716] |
Chr4:9996752 [GRCh38] Chr4:9998376 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.1(chr4:9544188-10738030)x3 |
copy number gain |
not provided [RCV001005524] |
Chr4:9544188..10738030 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.249+35C>T |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001810147]|not provided [RCV001620548] |
Chr4:10018940 [GRCh38] Chr4:10020564 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1420-278G>A |
single nucleotide variant |
not provided [RCV001710755] |
Chr4:9826878 [GRCh38] Chr4:9828502 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.681+172T>G |
single nucleotide variant |
not provided [RCV001721797] |
Chr4:9980420 [GRCh38] Chr4:9982044 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1419+139A>G |
single nucleotide variant |
not provided [RCV001594799] |
Chr4:9834742 [GRCh38] Chr4:9836366 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.*4G>A |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001157970] |
Chr4:9826393 [GRCh38] Chr4:9828017 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.*136A>G |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001157969] |
Chr4:9826261 [GRCh38] Chr4:9827885 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1113+300A>C |
single nucleotide variant |
not provided [RCV001693125] |
Chr4:9907935 [GRCh38] Chr4:9909559 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.535+67A>G |
single nucleotide variant |
not provided [RCV001694257] |
Chr4:9985602 [GRCh38] Chr4:9987226 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1216-182C>T |
single nucleotide variant |
not provided [RCV001684948] |
Chr4:9887824 [GRCh38] Chr4:9889448 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.727G>A (p.Val243Ile) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001152613]|not provided [RCV001349500] |
Chr4:9942000 [GRCh38] Chr4:9943624 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_020041.3(SLC2A9):c.1420-260A>G |
single nucleotide variant |
not provided [RCV001678841] |
Chr4:9826860 [GRCh38] Chr4:9828484 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1003-216TA[4] |
microsatellite |
not provided [RCV001710732] |
Chr4:9908552..9908553 [GRCh38] Chr4:9910176..9910177 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 |
copy number loss |
See cases [RCV001007422] |
Chr4:49450..24280482 [GRCh37] Chr4:4p16.3-15.2 |
pathogenic |
NM_020041.3(SLC2A9):c.410+187_410+191dup |
duplication |
not provided [RCV001667894] |
Chr4:9996589..9996590 [GRCh38] Chr4:9998213..9998214 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1002+78A>G |
single nucleotide variant |
not provided [RCV001680201] |
Chr4:9920307 [GRCh38] Chr4:9921931 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1419+315C>T |
single nucleotide variant |
not provided [RCV001671689] |
Chr4:9834566 [GRCh38] Chr4:9836190 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.45_50dup (p.Pro16_Leu17dup) |
duplication |
Hypouricemia, renal, 2 [RCV002489697]|not provided [RCV001066238] |
Chr4:10021379..10021380 [GRCh38] Chr4:10023003..10023004 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.-8T>G |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001144893]|SLC2A9-related disorder [RCV003953525]|not provided [RCV004716671] |
Chr4:10021437 [GRCh38] Chr4:10023061 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.150+65C>T |
single nucleotide variant |
not provided [RCV001539983] |
Chr4:10021215 [GRCh38] Chr4:10022839 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1003-166_1003-159del |
deletion |
not provided [RCV001710367] |
Chr4:9908504..9908511 [GRCh38] Chr4:9910128..9910135 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1215+4A>G |
single nucleotide variant |
not provided [RCV001230450] |
Chr4:9890606 [GRCh38] Chr4:9892230 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 |
copy number gain |
See cases [RCV001194594] |
Chr4:49450..49620898 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
NM_020041.3(SLC2A9):c.1004T>C (p.Ile335Thr) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001156410]|Inborn genetic diseases [RCV004678970] |
Chr4:9908344 [GRCh38] Chr4:9909968 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1622A>G (p.Ter541=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001157971] |
Chr4:9826398 [GRCh38] Chr4:9828022 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1-15.33(chr4:9896293-13242797)x3 |
copy number gain |
See cases [RCV001195074] |
Chr4:9896293..13242797 [GRCh37] Chr4:4p16.1-15.33 |
uncertain significance |
NM_020041.3(SLC2A9):c.1302G>A (p.Pro434=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001153783]|not provided [RCV001433869] |
Chr4:9834998 [GRCh38] Chr4:9836622 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
GRCh37/hg19 4p16.1(chr4:9501650-10794722)x3 |
copy number gain |
not provided [RCV001005523] |
Chr4:9501650..10794722 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.619A>G (p.Ile207Val) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001156511]|not provided [RCV004694994] |
Chr4:9980654 [GRCh38] Chr4:9982278 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1(chr4:9544188-9969907)x3 |
copy number gain |
not provided [RCV001258626] |
Chr4:9544188..9969907 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.610G>A (p.Val204Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004683674] |
Chr4:9980663 [GRCh38] Chr4:9982287 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1(chr4:9748015-10942200)x3 |
copy number gain |
not provided [RCV001259847] |
Chr4:9748015..10942200 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1511A>T (p.Asn504Ile) |
single nucleotide variant |
not provided [RCV001298188] |
Chr4:9826509 [GRCh38] Chr4:9828133 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV003325566]|SLC2A9-related disorder [RCV003973215]|not provided [RCV001355676]|not specified [RCV002246334] |
Chr4:9980627 [GRCh38] Chr4:9982251 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_020041.3(SLC2A9):c.1386C>G (p.Asn462Lys) |
single nucleotide variant |
not provided [RCV001315693] |
Chr4:9834914 [GRCh38] Chr4:9836538 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.156G>A (p.Trp52Ter) |
single nucleotide variant |
Renal hypouricemia 2 [RCV001329726] |
Chr4:10019068 [GRCh38] Chr4:10020692 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_020041.3(SLC2A9):c.1344G>A (p.Pro448=) |
single nucleotide variant |
not provided [RCV001395524] |
Chr4:9834956 [GRCh38] Chr4:9836580 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.713T>C (p.Ile238Thr) |
single nucleotide variant |
not provided [RCV001351388] |
Chr4:9942014 [GRCh38] Chr4:9943638 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.538G>A (p.Val180Ile) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV002486244]|not provided [RCV001316751] |
Chr4:9980735 [GRCh38] Chr4:9982359 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1114-29CT[8] |
microsatellite |
Hypouricemia, renal, 2 [RCV002495743]|not provided [RCV001492173] |
Chr4:9890726..9890727 [GRCh38] Chr4:9892350..9892351 [GRCh37] Chr4:4p16.1 |
likely benign |
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 |
copy number gain |
not provided [RCV001537928] |
Chr4:69671..29702595 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
NM_020041.3(SLC2A9):c.30G>A (p.Lys10=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV002501536]|not provided [RCV001435178] |
Chr4:10021400 [GRCh38] Chr4:10023024 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.726C>T (p.Ala242=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV002499894]|not provided [RCV001417301] |
Chr4:9942001 [GRCh38] Chr4:9943625 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_001001290.2(SLC2A9):c.64-2531T>C |
single nucleotide variant |
not provided [RCV001541818] |
Chr4:10021604 [GRCh38] Chr4:10023228 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.410+261G>A |
single nucleotide variant |
not provided [RCV001535205] |
Chr4:9996520 [GRCh38] Chr4:9998144 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 |
copy number loss |
not provided [RCV001537927] |
Chr4:68598..18912995 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
NM_001001290.2(SLC2A9):c.-40-114C>T |
single nucleotide variant |
not provided [RCV001681536] |
Chr4:10026120 [GRCh38] Chr4:10027744 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1292-292_1292-291del |
deletion |
not provided [RCV001619409] |
Chr4:9835299..9835300 [GRCh38] Chr4:9836923..9836924 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.681+266G>A |
single nucleotide variant |
not provided [RCV001694042] |
Chr4:9980326 [GRCh38] Chr4:9981950 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.107G>A (p.Cys36Tyr) |
single nucleotide variant |
not provided [RCV001452881] |
Chr4:10021323 [GRCh38] Chr4:10022947 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1420-167C>T |
single nucleotide variant |
not provided [RCV001581990] |
Chr4:9826767 [GRCh38] Chr4:9828391 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1420-19del |
deletion |
Hypouricemia, renal, 2 [RCV002501770]|not provided [RCV001512722] |
Chr4:9826619 [GRCh38] Chr4:9828243 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.681+219C>T |
single nucleotide variant |
not provided [RCV001674223] |
Chr4:9980373 [GRCh38] Chr4:9981997 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.151-60T>C |
single nucleotide variant |
not provided [RCV001708561] |
Chr4:10019133 [GRCh38] Chr4:10020757 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.681+25G>A |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV001810281]|not provided [RCV001708798] |
Chr4:9980567 [GRCh38] Chr4:9982191 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.795C>T (p.Asn265=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV002495594]|not provided [RCV001431398] |
Chr4:9941932 [GRCh38] Chr4:9943556 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1215+95T>C |
single nucleotide variant |
not provided [RCV001799868] |
Chr4:9890515 [GRCh38] Chr4:9892139 [GRCh37] Chr4:4p16.1 |
likely benign |
GRCh37/hg19 4p16.1(chr4:10017334-10723874)x3 |
copy number gain |
not provided [RCV001827734] |
Chr4:10017334..10723874 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 |
copy number loss |
not provided [RCV001829146] |
Chr4:68345..20587167 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
NM_020041.3(SLC2A9):c.599C>T (p.Ser200Phe) |
single nucleotide variant |
not provided [RCV001926298] |
Chr4:9980674 [GRCh38] Chr4:9982298 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1(chr4:9865042-10320833) |
copy number gain |
not specified [RCV002053407] |
Chr4:9865042..10320833 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1(chr4:8683743-10358964) |
copy number gain |
not specified [RCV002053406] |
Chr4:8683743..10358964 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1459A>G (p.Ile487Val) |
single nucleotide variant |
not provided [RCV002039470] |
Chr4:9826561 [GRCh38] Chr4:9828185 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3 |
copy number gain |
not provided [RCV001834299] |
Chr4:9577432..16223471 [GRCh37] Chr4:4p16.1-15.32 |
likely pathogenic |
NM_020041.3(SLC2A9):c.154T>A (p.Trp52Arg) |
single nucleotide variant |
not provided [RCV002004334] |
Chr4:10019070 [GRCh38] Chr4:10020694 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.770G>T (p.Arg257Leu) |
single nucleotide variant |
not provided [RCV001904606] |
Chr4:9941957 [GRCh38] Chr4:9943581 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NC_000004.11:g.(?_9828021)_(9828244_?)dup |
duplication |
not provided [RCV002012338] |
Chr4:9828021..9828244 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NC_000004.11:g.(?_9828021)_(10090385_?)dup |
duplication |
not provided [RCV002014743] |
Chr4:9828021..10090385 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.769C>T (p.Arg257Cys) |
single nucleotide variant |
not provided [RCV001921968] |
Chr4:9941958 [GRCh38] Chr4:9943582 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1518C>G (p.Thr506=) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV002479748]|not provided [RCV002029041] |
Chr4:9826502 [GRCh38] Chr4:9828126 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_020041.3(SLC2A9):c.1184T>C (p.Phe395Ser) |
single nucleotide variant |
not provided [RCV001877941] |
Chr4:9890641 [GRCh38] Chr4:9892265 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1139G>A (p.Arg380Gln) |
single nucleotide variant |
not provided [RCV002036453] |
Chr4:9890686 [GRCh38] Chr4:9892310 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.864G>A (p.Glu288=) |
single nucleotide variant |
not provided [RCV002195199] |
Chr4:9920523 [GRCh38] Chr4:9922147 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.536-18T>A |
single nucleotide variant |
not provided [RCV002080287] |
Chr4:9980755 [GRCh38] Chr4:9982379 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1050G>A (p.Pro350=) |
single nucleotide variant |
not provided [RCV002115824] |
Chr4:9908298 [GRCh38] Chr4:9909922 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.825G>A (p.Thr275=) |
single nucleotide variant |
not provided [RCV002138612] |
Chr4:9920562 [GRCh38] Chr4:9922186 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1215+7C>T |
single nucleotide variant |
not provided [RCV002203101] |
Chr4:9890603 [GRCh38] Chr4:9892227 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1002+16C>T |
single nucleotide variant |
not provided [RCV002176563] |
Chr4:9920369 [GRCh38] Chr4:9921993 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1002+11G>A |
single nucleotide variant |
not provided [RCV002161348] |
Chr4:9920374 [GRCh38] Chr4:9921998 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1419+16del |
deletion |
not provided [RCV002155771] |
Chr4:9834865 [GRCh38] Chr4:9836489 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.756C>T (p.Leu252=) |
single nucleotide variant |
not provided [RCV003112551] |
Chr4:9941971 [GRCh38] Chr4:9943595 [GRCh37] Chr4:4p16.1 |
likely benign |
NC_000004.11:g.(?_8869419)_(10118290_?)del |
deletion |
not provided [RCV003119759] |
Chr4:8869419..10118290 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NC_000004.11:g.(?_9828021)_(9892355_?)del |
deletion |
not provided [RCV003119959] |
Chr4:9828021..9892355 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.929C>A (p.Ala310Asp) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV003156158] |
Chr4:9920458 [GRCh38] Chr4:9922082 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.410+211C>T |
single nucleotide variant |
not provided [RCV002267454] |
Chr4:9996570 [GRCh38] Chr4:9998194 [GRCh37] Chr4:4p16.1 |
likely benign |
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 |
copy number loss |
See cases [RCV002286359] |
Chr4:68345..20964575 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 |
copy number gain |
FETAL DEMISE [RCV002282978] |
Chr4:114784..47569569 [GRCh37] Chr4:4p16.3-12 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
See cases [RCV002292704] |
Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
NM_000798.5(DRD5):c.968G>T (p.Ser323Ile) |
single nucleotide variant |
not specified [RCV004303287] |
Chr4:9782997 [GRCh38] Chr4:9784621 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 |
copy number loss |
not provided [RCV002473869] |
Chr4:68346..12369983 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
NM_000798.5(DRD5):c.866A>G (p.Lys289Arg) |
single nucleotide variant |
not specified [RCV004113577] |
Chr4:9782895 [GRCh38] Chr4:9784519 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.682-8847_682-8846insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT |
insertion |
Schizophrenia [RCV002463538] |
Chr4:9950891..9950892 [GRCh38] Chr4:9952515..9952516 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 |
copy number loss |
not provided [RCV002473938] |
Chr4:1..12785001 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
NM_020041.3(SLC2A9):c.731T>A (p.Val244Asp) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV003237317] |
Chr4:9941996 [GRCh38] Chr4:9943620 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1385A>G (p.Asn462Ser) |
single nucleotide variant |
not provided [RCV002617147] |
Chr4:9834915 [GRCh38] Chr4:9836539 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.162C>T (p.Cys54=) |
single nucleotide variant |
not provided [RCV002615006] |
Chr4:10019062 [GRCh38] Chr4:10020686 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1035del (p.Ala346fs) |
deletion |
not provided [RCV002512246] |
Chr4:9908313 [GRCh38] Chr4:9909937 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_000798.5(DRD5):c.724A>G (p.Ile242Val) |
single nucleotide variant |
not specified [RCV004218820] |
Chr4:9782753 [GRCh38] Chr4:9784377 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1092G>C (p.Glu364Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002974764] |
Chr4:9908256 [GRCh38] Chr4:9909880 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.233T>G (p.Val78Gly) |
single nucleotide variant |
not specified [RCV004212086] |
Chr4:9782262 [GRCh38] Chr4:9783886 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.431A>G (p.Asn144Ser) |
single nucleotide variant |
not provided [RCV002780077] |
Chr4:9985773 [GRCh38] Chr4:9987397 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.1337A>G (p.Asp446Gly) |
single nucleotide variant |
not specified [RCV004182320] |
Chr4:9783366 [GRCh38] Chr4:9784990 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1339C>T (p.Arg447Trp) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV003138309]|not provided [RCV002614730] |
Chr4:9834961 [GRCh38] Chr4:9836585 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.832G>A (p.Gly278Ser) |
single nucleotide variant |
not provided [RCV002972461] |
Chr4:9920555 [GRCh38] Chr4:9922179 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.251C>T (p.Ala84Val) |
single nucleotide variant |
not specified [RCV004115884] |
Chr4:9782280 [GRCh38] Chr4:9783904 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.445A>G (p.Ile149Val) |
single nucleotide variant |
not provided [RCV002996010] |
Chr4:9985759 [GRCh38] Chr4:9987383 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.60C>A (p.Asp20Glu) |
single nucleotide variant |
not provided [RCV003081141] |
Chr4:10021370 [GRCh38] Chr4:10022994 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.1028T>A (p.Val343Asp) |
single nucleotide variant |
not specified [RCV004196912] |
Chr4:9783057 [GRCh38] Chr4:9784681 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1114-19C>T |
single nucleotide variant |
not provided [RCV002591317] |
Chr4:9890730 [GRCh38] Chr4:9892354 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.625A>T (p.Ile209Phe) |
single nucleotide variant |
not provided [RCV002735518] |
Chr4:9980648 [GRCh38] Chr4:9982272 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.1313T>C (p.Phe438Ser) |
single nucleotide variant |
not specified [RCV004212642] |
Chr4:9783342 [GRCh38] Chr4:9784966 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.403C>A (p.Leu135Ile) |
single nucleotide variant |
not provided [RCV002569848] |
Chr4:9996788 [GRCh38] Chr4:9998412 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1618C>G (p.Pro540Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002692324] |
Chr4:9826402 [GRCh38] Chr4:9828026 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1291+9C>T |
single nucleotide variant |
not provided [RCV003002138] |
Chr4:9887558 [GRCh38] Chr4:9889182 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.768A>C (p.Pro256=) |
single nucleotide variant |
not provided [RCV002620911] |
Chr4:9941959 [GRCh38] Chr4:9943583 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.815-18G>A |
single nucleotide variant |
not provided [RCV002795397] |
Chr4:9920590 [GRCh38] Chr4:9922214 [GRCh37] Chr4:4p16.1 |
benign |
NM_020041.3(SLC2A9):c.1390G>T (p.Ala464Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002925220] |
Chr4:9834910 [GRCh38] Chr4:9836534 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.567T>A (p.Leu189=) |
single nucleotide variant |
not provided [RCV002662560] |
Chr4:9980706 [GRCh38] Chr4:9982330 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.724G>A (p.Ala242Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002848497] |
Chr4:9942003 [GRCh38] Chr4:9943627 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.554C>T (p.Ala185Val) |
single nucleotide variant |
not specified [RCV004132977] |
Chr4:9782583 [GRCh38] Chr4:9784207 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.238_239delinsTT (p.Ala80Phe) |
indel |
not provided [RCV002573730] |
Chr4:10018985..10018986 [GRCh38] Chr4:10020609..10020610 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.723G>T (p.Met241Ile) |
single nucleotide variant |
not specified [RCV004206390] |
Chr4:9782752 [GRCh38] Chr4:9784376 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1113+16G>A |
single nucleotide variant |
not provided [RCV002805716] |
Chr4:9908219 [GRCh38] Chr4:9909843 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.802A>C (p.Arg268=) |
single nucleotide variant |
not provided [RCV002805548] |
Chr4:9941925 [GRCh38] Chr4:9943549 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.70G>A (p.Ala24Thr) |
single nucleotide variant |
not provided [RCV002982778] |
Chr4:10021360 [GRCh38] Chr4:10022984 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1255A>G (p.Ile419Val) |
single nucleotide variant |
not provided [RCV002801396] |
Chr4:9887603 [GRCh38] Chr4:9889227 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.168C>T (p.Leu56=) |
single nucleotide variant |
not provided [RCV002852337] |
Chr4:10019056 [GRCh38] Chr4:10020680 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_000798.5(DRD5):c.83G>A (p.Gly28Glu) |
single nucleotide variant |
not specified [RCV004204860] |
Chr4:9782112 [GRCh38] Chr4:9783736 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.540C>T (p.Val180=) |
single nucleotide variant |
not provided [RCV002594568] |
Chr4:9980733 [GRCh38] Chr4:9982357 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1383C>T (p.Ser461=) |
single nucleotide variant |
not provided [RCV002625503] |
Chr4:9834917 [GRCh38] Chr4:9836541 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.958G>T (p.Val320Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002827008] |
Chr4:9920429 [GRCh38] Chr4:9922053 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.411-19A>T |
single nucleotide variant |
not provided [RCV002852691] |
Chr4:9985812 [GRCh38] Chr4:9987436 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.249+18C>T |
single nucleotide variant |
not provided [RCV002574242] |
Chr4:10018957 [GRCh38] Chr4:10020581 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.758C>T (p.Pro253Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002640868] |
Chr4:9941969 [GRCh38] Chr4:9943593 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1315G>A (p.Gly439Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002954595] |
Chr4:9834985 [GRCh38] Chr4:9836609 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.1339G>A (p.Gly447Ser) |
single nucleotide variant |
not specified [RCV004226951] |
Chr4:9783368 [GRCh38] Chr4:9784992 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.59A>C (p.Gln20Pro) |
single nucleotide variant |
not specified [RCV004094208] |
Chr4:9782088 [GRCh38] Chr4:9783712 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.770G>A (p.Arg257His) |
single nucleotide variant |
Inborn genetic diseases [RCV002955878] |
Chr4:9941957 [GRCh38] Chr4:9943581 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.122T>C (p.Val41Ala) |
single nucleotide variant |
not specified [RCV004225998] |
Chr4:9782151 [GRCh38] Chr4:9783775 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1059C>G (p.Ile353Met) |
single nucleotide variant |
not provided [RCV002599532] |
Chr4:9908289 [GRCh38] Chr4:9909913 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.541G>A (p.Ala181Thr) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV004763527]|not provided [RCV003063425] |
Chr4:9980732 [GRCh38] Chr4:9982356 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_020041.3(SLC2A9):c.372dup (p.Thr125fs) |
duplication |
not provided [RCV003029599] |
Chr4:9996818..9996819 [GRCh38] Chr4:9998442..9998443 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_020041.3(SLC2A9):c.411-14T>C |
single nucleotide variant |
not provided [RCV003026630] |
Chr4:9985807 [GRCh38] Chr4:9987431 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1215+8G>A |
single nucleotide variant |
SLC2A9-related disorder [RCV003926527]|not provided [RCV002922111] |
Chr4:9890602 [GRCh38] Chr4:9892226 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_020041.3(SLC2A9):c.536-7T>C |
single nucleotide variant |
not provided [RCV002877589] |
Chr4:9980744 [GRCh38] Chr4:9982368 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.422T>C (p.Leu141Ser) |
single nucleotide variant |
not provided [RCV003047663] |
Chr4:9985782 [GRCh38] Chr4:9987406 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.546C>T (p.Leu182=) |
single nucleotide variant |
SLC2A9-related disorder [RCV003926411]|not provided [RCV002576929] |
Chr4:9980727 [GRCh38] Chr4:9982351 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.535+19G>A |
single nucleotide variant |
not provided [RCV002579892] |
Chr4:9985650 [GRCh38] Chr4:9987274 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1369G>A (p.Val457Ile) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV003138415]|not provided [RCV002966758] |
Chr4:9834931 [GRCh38] Chr4:9836555 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.1159G>A (p.Val387Met) |
single nucleotide variant |
not specified [RCV004157272] |
Chr4:9783188 [GRCh38] Chr4:9784812 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.72_73delinsGA (p.Gly25Arg) |
indel |
not provided [RCV002599372] |
Chr4:10021357..10021358 [GRCh38] Chr4:10022981..10022982 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1419+1G>A |
single nucleotide variant |
not provided [RCV002651819] |
Chr4:9834880 [GRCh38] Chr4:9836504 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1420-6C>T |
single nucleotide variant |
not provided [RCV002598545] |
Chr4:9826606 [GRCh38] Chr4:9828230 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.400G>A (p.Val134Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004966240] |
Chr4:9996791 [GRCh38] Chr4:9998415 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1065C>T (p.Tyr355=) |
single nucleotide variant |
not provided [RCV002585055] |
Chr4:9908283 [GRCh38] Chr4:9909907 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.250-213del |
deletion |
not provided [RCV003214134] |
Chr4:9997154 [GRCh38] Chr4:9998778 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_000798.5(DRD5):c.877A>G (p.Lys293Glu) |
single nucleotide variant |
not specified [RCV004266344] |
Chr4:9782906 [GRCh38] Chr4:9784530 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.991G>C (p.Ala331Pro) |
single nucleotide variant |
not specified [RCV004267494] |
Chr4:9783020 [GRCh38] Chr4:9784644 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.770G>A (p.Arg257His) |
single nucleotide variant |
not specified [RCV004267493] |
Chr4:9782799 [GRCh38] Chr4:9784423 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.69G>C (p.Gln23His) |
single nucleotide variant |
not specified [RCV004268196] |
Chr4:9782098 [GRCh38] Chr4:9783722 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.388A>G (p.Met130Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003205059] |
Chr4:9996803 [GRCh38] Chr4:9998427 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.1123T>A (p.Cys375Ser) |
single nucleotide variant |
not specified [RCV004267899] |
Chr4:9783152 [GRCh38] Chr4:9784776 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.1010G>C (p.Ser337Thr) |
single nucleotide variant |
not specified [RCV004256999] |
Chr4:9783039 [GRCh38] Chr4:9784663 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.94G>A (p.Ala32Thr) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV003136763] |
Chr4:10021336 [GRCh38] Chr4:10022960 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.62C>T (p.Thr21Ile) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV003136764] |
Chr4:10021368 [GRCh38] Chr4:10022992 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1105G>A (p.Val369Ile) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV003136765] |
Chr4:9908243 [GRCh38] Chr4:9909867 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.340G>A (p.Asp114Asn) |
single nucleotide variant |
not specified [RCV004261535] |
Chr4:9782369 [GRCh38] Chr4:9783993 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.772A>T (p.Arg258Trp) |
single nucleotide variant |
not specified [RCV004265990] |
Chr4:9782801 [GRCh38] Chr4:9784425 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) |
copy number gain |
4p16.3 microduplication syndrome [RCV003319592] |
Chr4:68345..34512694 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
NM_000798.5(DRD5):c.473T>G (p.Leu158Trp) |
single nucleotide variant |
not specified [RCV004297514] |
Chr4:9782502 [GRCh38] Chr4:9784126 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.161G>C (p.Cys54Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003265770] |
Chr4:10019063 [GRCh38] Chr4:10020687 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327612] |
Chr4:2904667..42963232 [GRCh38] Chr4:4p16.3-13 |
pathogenic |
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327613] |
Chr4:85624..57073230 [GRCh38] Chr4:4p16.3-q12 |
pathogenic |
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327611] |
Chr4:1..49062177 [GRCh38] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 |
copy number loss |
not provided [RCV003334269] |
Chr4:85622..16900108 [GRCh37] Chr4:4p16.3-15.32 |
pathogenic |
NM_000798.5(DRD5):c.936C>A (p.Phe312Leu) |
single nucleotide variant |
not specified [RCV004357892] |
Chr4:9782965 [GRCh38] Chr4:9784589 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.1405A>G (p.Thr469Ala) |
single nucleotide variant |
not specified [RCV004340379] |
Chr4:9783434 [GRCh38] Chr4:9785058 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.154_155inv (p.Trp52Gln) |
inversion |
SLC2A9-related disorder [RCV003397230] |
Chr4:10019069..10019070 [GRCh38] Chr4:10020693..10020694 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1520A>C (p.Tyr507Ser) |
single nucleotide variant |
not provided [RCV003457417] |
Chr4:9826500 [GRCh38] Chr4:9828124 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.681+1G>T |
single nucleotide variant |
SLC2A9-related disorder [RCV003399553] |
Chr4:9980591 [GRCh38] Chr4:9982215 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_001001290.2(SLC2A9):c.21C>T (p.Asp7=) |
single nucleotide variant |
SLC2A9-related disorder [RCV003938994]|not provided [RCV003439259] |
Chr4:10025946 [GRCh38] Chr4:10027570 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.941G>A (p.Arg314His) |
single nucleotide variant |
SLC2A9-related disorder [RCV003402833] |
Chr4:9920446 [GRCh38] Chr4:9922070 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.682-19G>A |
single nucleotide variant |
not provided [RCV003879945] |
Chr4:9942064 [GRCh38] Chr4:9943688 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.564C>T (p.Tyr188=) |
single nucleotide variant |
not provided [RCV003579471] |
Chr4:9980709 [GRCh38] Chr4:9982333 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1197C>G (p.Thr399=) |
single nucleotide variant |
not provided [RCV003544896] |
Chr4:9890628 [GRCh38] Chr4:9892252 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1291+16C>A |
single nucleotide variant |
not provided [RCV003826868] |
Chr4:9887551 [GRCh38] Chr4:9889175 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.150+8C>T |
single nucleotide variant |
not provided [RCV003691421] |
Chr4:10021272 [GRCh38] Chr4:10022896 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.150+15C>G |
single nucleotide variant |
not provided [RCV003836291] |
Chr4:10021265 [GRCh38] Chr4:10022889 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.535+18C>T |
single nucleotide variant |
not provided [RCV003811365] |
Chr4:9985651 [GRCh38] Chr4:9987275 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.723T>A (p.Pro241=) |
single nucleotide variant |
not provided [RCV003814676] |
Chr4:9942004 [GRCh38] Chr4:9943628 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.535+10C>A |
single nucleotide variant |
not provided [RCV003669870] |
Chr4:9985659 [GRCh38] Chr4:9987283 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.612G>A (p.Val204=) |
single nucleotide variant |
not provided [RCV003667365] |
Chr4:9980661 [GRCh38] Chr4:9982285 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.186G>T (p.Ala62=) |
single nucleotide variant |
not provided [RCV003673015] |
Chr4:10019038 [GRCh38] Chr4:10020662 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1002+17G>A |
single nucleotide variant |
not provided [RCV003834737] |
Chr4:9920368 [GRCh38] Chr4:9921992 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.150+16T>C |
single nucleotide variant |
not provided [RCV003549480] |
Chr4:10021264 [GRCh38] Chr4:10022888 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.249+19C>G |
single nucleotide variant |
not provided [RCV003671555] |
Chr4:10018956 [GRCh38] Chr4:10020580 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.105G>A (p.Glu35=) |
single nucleotide variant |
not provided [RCV003736284] |
Chr4:10021325 [GRCh38] Chr4:10022949 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.84G>A (p.Gly28=) |
single nucleotide variant |
not provided [RCV003823089] |
Chr4:10021346 [GRCh38] Chr4:10022970 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1287del (p.Pro430fs) |
deletion |
not provided [RCV003682622] |
Chr4:9887571 [GRCh38] Chr4:9889195 [GRCh37] Chr4:4p16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 |
copy number loss |
not specified [RCV003986510] |
Chr4:68345..14083766 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 |
copy number loss |
not specified [RCV003986488] |
Chr4:68345..21143236 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 |
copy number loss |
not specified [RCV003986512] |
Chr4:68345..19103550 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.1(chr4:9930962-9956639)x1 |
copy number loss |
not specified [RCV003986526] |
Chr4:9930962..9956639 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.815-16G>A |
single nucleotide variant |
not provided [RCV003853302] |
Chr4:9920588 [GRCh38] Chr4:9922212 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1291+6G>A |
single nucleotide variant |
not provided [RCV003819732] |
Chr4:9887561 [GRCh38] Chr4:9889185 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1152C>T (p.Leu384=) |
single nucleotide variant |
not provided [RCV003704171] |
Chr4:9890673 [GRCh38] Chr4:9892297 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_000798.5(DRD5):c.804C>G (p.His268Gln) |
single nucleotide variant |
DRD5-related disorder [RCV003911601] |
Chr4:9782833 [GRCh38] Chr4:9784457 [GRCh37] Chr4:4p16.1 |
benign |
NM_000798.5(DRD5):c.631G>A (p.Asp211Asn) |
single nucleotide variant |
DRD5-related disorder [RCV003906929] |
Chr4:9782660 [GRCh38] Chr4:9784284 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.611_613dup (p.Val204_Thr205insMet) |
duplication |
Hypouricemia, renal, 2 [RCV003990368] |
Chr4:9980659..9980660 [GRCh38] Chr4:9982283..9982284 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1004T>A (p.Ile335Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004968565]|SLC2A9-related disorder [RCV003914507] |
Chr4:9908344 [GRCh38] Chr4:9909968 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.213C>T (p.Tyr71=) |
single nucleotide variant |
SLC2A9-related disorder [RCV003962066] |
Chr4:10019011 [GRCh38] Chr4:10020635 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_000798.5(DRD5):c.-5C>G |
single nucleotide variant |
DRD5-related disorder [RCV003927102] |
Chr4:9782025 [GRCh38] Chr4:9783649 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_000798.5(DRD5):c.216C>G (p.Arg72=) |
single nucleotide variant |
DRD5-related disorder [RCV003979441] |
Chr4:9782245 [GRCh38] Chr4:9783869 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_000798.5(DRD5):c.186C>A (p.Cys62Ter) |
single nucleotide variant |
DRD5-related disorder [RCV003933907] |
Chr4:9782215 [GRCh38] Chr4:9783839 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_000798.5(DRD5):c.1009A>T (p.Ser337Cys) |
single nucleotide variant |
not specified [RCV004377114] |
Chr4:9783038 [GRCh38] Chr4:9784662 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.1408C>T (p.Pro470Ser) |
single nucleotide variant |
not specified [RCV004377116] |
Chr4:9783437 [GRCh38] Chr4:9785061 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.491C>A (p.Ala164Glu) |
single nucleotide variant |
not specified [RCV004377119] |
Chr4:9782520 [GRCh38] Chr4:9784144 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.818G>A (p.Arg273Gln) |
single nucleotide variant |
not specified [RCV004377124] |
Chr4:9782847 [GRCh38] Chr4:9784471 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 |
copy number loss |
not provided [RCV003885506] |
Chr4:85622..13316942 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
NM_000798.5(DRD5):c.1041C>G (p.Phe347Leu) |
single nucleotide variant |
not specified [RCV004377115] |
Chr4:9783070 [GRCh38] Chr4:9784694 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.463C>T (p.Arg155Cys) |
single nucleotide variant |
not specified [RCV004377118] |
Chr4:9782492 [GRCh38] Chr4:9784116 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.760G>A (p.Val254Met) |
single nucleotide variant |
not specified [RCV004377122] |
Chr4:9782789 [GRCh38] Chr4:9784413 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.788A>G (p.Glu263Gly) |
single nucleotide variant |
not specified [RCV004377123] |
Chr4:9782817 [GRCh38] Chr4:9784441 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.332C>A (p.Ala111Glu) |
single nucleotide variant |
not specified [RCV004377117] |
Chr4:9782361 [GRCh38] Chr4:9783985 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.536A>G (p.Asn179Ser) |
single nucleotide variant |
not specified [RCV004377120] |
Chr4:9782565 [GRCh38] Chr4:9784189 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.179C>A (p.Ser60Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004459100] |
Chr4:10019045 [GRCh38] Chr4:10020669 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1173G>A (p.Met391Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004459098] |
Chr4:9890652 [GRCh38] Chr4:9892276 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1438T>C (p.Cys480Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004459099] |
Chr4:9826582 [GRCh38] Chr4:9828206 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NC_000004.11:g.(?_2357152)_(15176083_?)del |
deletion |
not provided [RCV004580846] |
Chr4:2357152..15176083 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
NM_000798.5(DRD5):c.1268G>A (p.Arg423Gln) |
single nucleotide variant |
not specified [RCV004619855] |
Chr4:9783297 [GRCh38] Chr4:9784921 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NC_000004.11:g.(?_9943517)_(9943689_?)del |
deletion |
not provided [RCV004580859] |
Chr4:9943517..9943689 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_000798.5(DRD5):c.1006G>A (p.Val336Ile) |
single nucleotide variant |
not specified [RCV004619858] |
Chr4:9783035 [GRCh38] Chr4:9784659 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.313G>T (p.Gly105Cys) |
single nucleotide variant |
not specified [RCV004619856] |
Chr4:9782342 [GRCh38] Chr4:9783966 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.1091A>G (p.Asp364Gly) |
single nucleotide variant |
not specified [RCV004619857] |
Chr4:9783120 [GRCh38] Chr4:9784744 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.34C>A (p.Leu12Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004672520] |
Chr4:10021396 [GRCh38] Chr4:10023020 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1202C>T (p.Thr401Met) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV004759736] |
|
likely pathogenic |
NM_020041.3(SLC2A9):c.150+4A>C |
single nucleotide variant |
SLC2A9-related disorder [RCV004739871] |
Chr4:10021276 [GRCh38] Chr4:10022900 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.570T>G (p.Ser190Arg) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV004759735] |
|
likely pathogenic |
NM_020041.3(SLC2A9):c.1105G>T (p.Val369Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004971338] |
Chr4:9908243 [GRCh38] Chr4:9909867 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.49C>G (p.Leu17Val) |
single nucleotide variant |
not specified [RCV004914375] |
Chr4:9782078 [GRCh38] Chr4:9783702 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.464G>A (p.Arg155His) |
single nucleotide variant |
not specified [RCV004914373] |
Chr4:9782493 [GRCh38] Chr4:9784117 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.68A>G (p.His23Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004971341] |
Chr4:10021362 [GRCh38] Chr4:10022986 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.574G>A (p.Asp192Asn) |
single nucleotide variant |
not specified [RCV004914372] |
Chr4:9782603 [GRCh38] Chr4:9784227 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_000798.5(DRD5):c.1408C>A (p.Pro470Thr) |
single nucleotide variant |
not specified [RCV004914374] |
Chr4:9783437 [GRCh38] Chr4:9785061 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1612G>A (p.Gly538Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004971339] |
Chr4:9826408 [GRCh38] Chr4:9828032 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.581C>G (p.Pro194Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004971343] |
Chr4:9980692 [GRCh38] Chr4:9982316 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.125G>T (p.Gly42Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004971340] |
Chr4:10021305 [GRCh38] Chr4:10022929 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.145A>G (p.Arg49Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004971342] |
Chr4:10021285 [GRCh38] Chr4:10022909 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.1-15.33(chr4:7518112-12949656)x3 |
copy number gain |
not provided [RCV004819473] |
Chr4:7518112..12949656 [GRCh37] Chr4:4p16.1-15.33 |
uncertain significance |
GRCh37/hg19 4p16.3-15.32(chr4:68346-16744084)x3 |
copy number gain |
not provided [RCV004819301] |
Chr4:68346..16744084 [GRCh37] Chr4:4p16.3-15.32 |
pathogenic |
NM_000798.5(DRD5):c.1109C>A (p.Ala370Asp) |
single nucleotide variant |
Attention deficit-hyperactivity disorder, susceptibility to, 7 [RCV005208369] |
Chr4:9783138 [GRCh38] Chr4:9784762 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1557dup (p.Ala520fs) |
duplication |
Hypouricemia, renal, 2 [RCV005234894] |
Chr4:9826462..9826463 [GRCh38] Chr4:9828086..9828087 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_020041.3(SLC2A9):c.269A>G (p.Asn90Ser) |
single nucleotide variant |
not provided [RCV005176219] |
Chr4:9996922 [GRCh38] Chr4:9998546 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.1380C>T (p.Leu460=) |
single nucleotide variant |
not provided [RCV005148073] |
Chr4:9834920 [GRCh38] Chr4:9836544 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.195C>T (p.Phe65=) |
single nucleotide variant |
not provided [RCV005132965] |
Chr4:10019029 [GRCh38] Chr4:10020653 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.463A>G (p.Met155Val) |
single nucleotide variant |
not provided [RCV005194184] |
Chr4:9985741 [GRCh38] Chr4:9987365 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.363A>C (p.Gly121=) |
single nucleotide variant |
not provided [RCV005074168] |
Chr4:9996828 [GRCh38] Chr4:9998452 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1554C>A (p.Asn518Lys) |
single nucleotide variant |
Hypouricemia, renal, 2 [RCV005234895] |
Chr4:9826466 [GRCh38] Chr4:9828090 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_020041.3(SLC2A9):c.537C>T (p.Gly179=) |
single nucleotide variant |
not provided [RCV005110838] |
Chr4:9980736 [GRCh38] Chr4:9982360 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.882C>T (p.Arg294=) |
single nucleotide variant |
not provided [RCV005185154] |
Chr4:9920505 [GRCh38] Chr4:9922129 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.780C>G (p.Leu260=) |
single nucleotide variant |
not provided [RCV005130369] |
Chr4:9941947 [GRCh38] Chr4:9943571 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_020041.3(SLC2A9):c.1291+149A>G |
single nucleotide variant |
not provided [RCV001649468] |
Chr4:9887418 [GRCh38] Chr4:9889042 [GRCh37] Chr4:4p16.1 |
benign |