All transcript variants in gene SLC20A2

Information The variants shown are described using the NM_006749.4 transcript reference sequence.

181 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

Exon     

Protein     

DNA change (genomic) (hg19)     

ExAC MAF     

gnomAD MAF     

dbSNP ID     

Segregation     

# Affected Unrelated     

Zygosity     

ACMG class     

Other Classification     

Reference     

DB-ID     

Owner     
+?/. c.-520186_-264-8549del 1 p.? g.42338721_42916885del - - - yes 1 - Pathogenic Authors: pathogenic; ClinVar: likely pathogenic [Pasanen 2016] SLC20A2_000075 Coppola Lab UCLA (EMR)
+?/. c.(-265+1_-264-1)_(289+1_290-1)del 1i_2i p.? g.(42323436_42329619)_(42330173_42358548)del - - - yes - - Pathogenic - [Guo, 2019a] SLC20A2_000072 Coppola Lab UCLA (EMR)
+?/. c.(-265+1_-264-1)_(289+1_290-1)del 1i_2i p.? g.(42323436_42329619)_(42330173_42358548)del - - - yes 2 - Pathogenic Authors: likely pathogenic [David, 2016] SLC20A2_000072 Coppola Lab UCLA (EMR)
+?/. c.(1_1959del) 1_11 p.? g.(?_42275321)_(42329908_?)del - - - - - - Pathogenic - [Mu, 2019] SLC20A2_000067 Coppola Lab UCLA (EMR)
./. c.(430+1_431-1)_(516+1_517-1)del 3i_4i p.(Val144Glyfs*85) g.(42317511_42320522)_(42320609_42323294)del - - - - 1 - Pathogenic Authors: likely pathogenic [David, 2016] SLC20A2_000073 Coppola Lab UCLA (EMR)
+?/. c.(430+1_431-1)_(613+1_ 614-1)del 3i_5i p.(Val144_Pro204del) g.(42302281_42317413)_(42320609_42323294)del - - - yes - - Pathogenic - [Chen, 2019b] SLC20A2_000074 Coppola Lab UCLA (EMR)
+?/. c.(430+1_431-1)_(613+1_614-1)del 3i_5i p.(Ala145_Val205del) g.(42302281_42317413)_(42320609_42323294)del - - - ? 1 - Pathogenic Authors: likely pathogenic [David, 2016] SLC20A2_000074 Coppola Lab UCLA (EMR)
+?/. c.(730+1_731-1)_(*1_?) 6i_11 p.? g.(?_42275320)_(42297172_42302163)del - - - - - - Pathogenic - [Giorgio,2019] SLC20A2_000146 Coppola Lab UCLA (EMR)
+?/. c.1_1959del 1_11 p.? g.42247654_42810910del - - - yes 1 - Pathogenic Authors: likely pathogenic [Baker, 2014] SLC20A2_000067 Coppola Lab UCLA (EMR)
?/. c.1_1959del 1_11 p.? g.41346129_43050788del - - - - - - Pathogenic - [Guo, 2019a] SLC20A2_000123 Coppola Lab UCLA (EMR)
+?/. c.19_20delTT 2 p.(Leu7Valfs*48) g.42329889_42329890delAA - - - yes - - Pathogenic - [Chen, 2019b] SLC20A2_000126 Coppola Lab UCLA (EMR)
./. c.21delG 2 p.(Leu7Phefs*10) g.42329888delC - - - yes 1 - Pathogenic - [Gagliardi, 2015] SLC20A2_000068 Coppola Lab UCLA (EMR)
./. c.21delG 2 p.(Leu7Phefs*10) g.42329888delC - - - ? 1 - Pathogenic Authors: likely pathogenic [Gagliardi, 2017] SLC20A2_000068 Coppola Lab UCLA (EMR)
?/. c.21delG 2 p.(Leu7Phefs*10) g.42329888delC - - - yes - - Pathogenic - [Chiriaco, 2018] SLC20A2_000068 Coppola Lab UCLA (EMR)
+?/. c.21delG 2 p.(Leu7Phefs*10) g.42329888delC - - - - - - Pathogenic - [Giorgio,2019] SLC20A2_000068 Coppola Lab UCLA (EMR)
?/. c.68C>A 2 p.(Ser23Tyr) g.42329841G>T - - - - - - Uncertain significance - [Chen, 2019b] SLC20A2_000135 Coppola Lab UCLA (EMR)
+/. c.71T>C 2 p.(Val24Ala) g.42329838A>G - - - - - - Likely Pathogenic - [Guo, 2019] SLC20A2_000109 Coppola Lab UCLA (EMR)
?/. c.73G>A 2 p.(Gly25Ser) g.42329836C>T - - rs1269195759 yes - - Uncertain significance - [Chen, 2019b] SLC20A2_000127 Coppola Lab UCLA (EMR)
?/? c.82G>A 2 p.(Asp28Asn) g.42329827C>T - - - ? 1 - Likely Pathogenic Authors: pathogenic; ClinVar: likely pathogenic [Chen, 2013] SLC20A2_000032 Coppola Lab UCLA (Andrea Legati)
?/? c.82G>A 2 p.(Asp28Asn) g.42329827C>T - - - ? 1 - Likely Pathogenic Authors: pathogenic; ClinVar: likely pathogenic [Nicolas, 2013b] SLC20A2_000032 Coppola Lab UCLA (EMR)
?/. c.82G>A 2 p.(Asp28Asn) g.42329827C>T - - - - - - Likely Pathogenic - [Guo, 2019] SLC20A2_000032 Coppola Lab UCLA (EMR)
?/? c.124_126delGTG 2 p.(Val42del) g.42329783_42329785delCAC - - - ? 1 - Likely Pathogenic Authors: likely pathogenic [Wang, 2012] SLC20A2_000038 Coppola Lab UCLA (EMR)
?/. c.146_150del 2 p.(Ile49Serfs*5) g.42329759_42329763del - - - - - - Pathogenic - [Guo, 2019] SLC20A2_000110 Coppola Lab UCLA (EMR)
./. c.149T>G 2 p.(Leu50*) g.42329760A>C - - - - - - Pathogenic - [Ramos, 2018] SLC20A2_000081 Coppola Lab UCLA (EMR)
?/? c.152C>T 2 p.(Ala51Val) g.42329757G>A - - - ? 1 - Uncertain significance Authors: pathogenic [Yamada, 2014] SLC20A2_000039 Coppola Lab UCLA (EMR)
?/? c.185T>C 2 p.(Leu62Pro) g.42329724A>G - - - yes 1 - Uncertain significance Authors: pathogenic [Chen, 2013] SLC20A2_000033 Coppola Lab UCLA (Andrea Legati)
?/. c.185T>C 2 p.(Leu62Pro) g.42329724A>G - - - - - - Uncertain significance - [Guo, 2019] SLC20A2_000033 Coppola Lab UCLA (EMR)
?/. c.187G>A 2 p.(Gly63Ser) g.42329722C>T - - - yes 1 - Uncertain significance Authors: likely pathogenic [Rubino, 2017] SLC20A2_000079 Coppola Lab UCLA (EMR)
?/. c.188G>A 2 p.(Gly63Asp) g.42329721C>T - - - ? 1 - Uncertain significance Authors: likely pathogenic [Rubino, 2017] SLC20A2_000078 Coppola Lab UCLA (EMR)
+?/. c.205delA 2 p.(Thr69Profs*9) g.42329704delT - - - - - - Pathogenic - [Chen, 2019b] SLC20A2_000136 Coppola Lab UCLA (EMR)
?/. c.207del 2 p.(Ile70Phefs*8) g.42329702del - - - - - - Pathogenic - [Guo, 2019] SLC20A2_000111 Coppola Lab UCLA (EMR)
?/? c.212G>A 2 p.(Arg71His) g.42329697C>T - - - yes 1 - Likely Pathogenic Authors: pathogenic [Yamada, 2014] SLC20A2_000040 Coppola Lab UCLA (EMR)
./. c.212G>A 2 p.(Arg71His) g.42329697C>T - - - - - - Likely Pathogenic - [Ramos, 2018] SLC20A2_000040 Coppola Lab UCLA (EMR)
+?/. c.219_220insA 2 p.(Ile74Asnfs*3) g.42329689_42329690insT - - - yes 1 - Pathogenic Authors: pathogenic [Røsby, 2016] SLC20A2_000071 Coppola Lab UCLA (EMR)
./. c.248C>T 1 p.(Thr83Met) g.42329661G>A 0.000016470 0.000016240 - yes 1 - Uncertain significance - [Ding, 2018] SLC20A2_000106 Coppola Lab (Ariane Ayer)
?/. c.248C>T 2 p.(Thr83Met) g.42329661G>A 0.000016470 0.000015910 rs753685494 - - - Uncertain significance - [Chen, 2019b] SLC20A2_000106 Coppola Lab UCLA (EMR)
+?/. c.260_261delTC 2 p.(Leu87Hisfs*6) g.42329648_42329649delGA - - - - 1 - Pathogenic Authors: pathogenic [Yamada, 2014] SLC20A2_000041 Coppola Lab UCLA (EMR)
?/. c.269G>T 2 p.(Gly90Val) g.42329640C>A - - - yes - - Likely Pathogenic - [Koyama, 2017] SLC20A2_000104 Coppola Lab UCLA (EMR)
./. c.289+5G>A 2i p.? g.42329615C>T - - - - - - Uncertain significance - [Ramos, 2018] SLC20A2_000082 Coppola Lab UCLA (EMR)
+?/. c.289+937G>A 2i p.Ser98Argfs*9 g.42328683C>T - 0.000007791 rs1472499540 - - - Pathogenic - [Chen, 2019b] SLC20A2_000137 Coppola Lab UCLA (EMR)
?/. c.290-8A>G 2i p.? g.42323443T>C - - - - - - Uncertain significance - [Ramos, 2018] SLC20A2_000083 Coppola Lab UCLA (EMR)
+?/. c.290-8A>G 2i p.Gly97Valfs*163 g.42323443T>C - - - yes - - Pathogenic - [Chen, 2019b] SLC20A2_000083 Coppola Lab UCLA (EMR)
+?/. c.290-8A>G 2i p.Gly97Valfs*163 g.42323443T>C - - - - - - Pathogenic - [Chen, 2019b] SLC20A2_000083 Coppola Lab UCLA (EMR)
./. c.290G>A 3 p.(Gly97Asp) g.42323435C>T - - - - - - Uncertain significance - [Ramos, 2018] SLC20A2_000084 Coppola Lab UCLA (EMR)
+?/. c.(289+1_290-1)_(429+1_430-1)del 2i_3i p.(Gly97_Ile143del) g.(42320609_42323294)_(42323436_42329619) - - - yes - - Likely Pathogenic - [Chen, 2019b] SLC20A2_000134 Coppola Lab UCLA (EMR)
+?/. c.303delG 3 p.(Trp101Cysfs*3) g.42323422delC - - - ? - - Pathogenic - [Giorgio,2019] SLC20A2_000144 Coppola Lab UCLA (EMR)
?/? c.323T>C 3 p.(Leu108Pro) g.42323402A>G - - - yes 1 - Uncertain significance - [Kasuga, 2013] SLC20A2_000037 Coppola Lab UCLA (Andrea Legati)
+/. c.332C>T 3 p.(Pro111Leu) g.42323393G>A - - - - - - Likely Pathogenic - [Guo, 2019] SLC20A2_000112 Coppola Lab UCLA (EMR)
?/? c.338C>G 3 p.(Ser113*) g.42323387G>C - - - ? 1 - Pathogenic ClinVar: pathogenic [Baker, 2014] SLC20A2_000042 Coppola Lab UCLA (EMR)
?/? c.338C>G 3 p.(Ser113*) g.42323387G>C - - - ? 1 - Pathogenic Authors: likely pathogenic [Carecchio, 2014] SLC20A2_000042 Coppola Lab UCLA (EMR)
./. c.338C>G 3 p.(Ser113*) g.42323387G>C - - - - - - Pathogenic - [Ramos, 2018] SLC20A2_000042 Coppola Lab UCLA (EMR)
?/? c.344C>T 3 p.(Thr115Met) g.42323381G>A 0.000008247 - - yes 1 - Uncertain significance Authors: pathogenic [Yamada, 2014] SLC20A2_000043 Coppola Lab UCLA (EMR)
?/. c.344C>T 3 p.(Thr115Met) g.42323381G>A 0.000008247 - - - - - Uncertain significance - [Zhang, 2018] SLC20A2_000043 Coppola Lab UCLA (EMR)
./. c.382del 3 p.(Val128Serfs*43) g.42323343del - - - - - - Pathogenic - [Ramos, 2018] SLC20A2_000085 Coppola Lab UCLA (EMR)
?/? c.431-1G>T 3i p.? g.42320609C>A - - - ? 1 - Pathogenic Authors: likely pathogenic [Nicolas, 2013a] SLC20A2_000044 Coppola Lab UCLA (EMR)
?/? c.509delT 4 p.(Leu170*) g.42320530delA - - rs398122395 no 1 - Pathogenic Authors: pathogenic; ClinVar: pathogenic [Hsu, 2013] SLC20A2_000025 Coppola Lab UCLA (Andrea Legati)
./. c.509delT 4 p.(Leu170*) g.42320530delA - - - yes - - Pathogenic - [Konno, 2018] SLC20A2_000025 Coppola Lab UCLA (EMR)
+?/. c.514A>T 4 p.(Lys172*) g.42320525T>A - - - ? 1 - Pathogenic Authors: pathogenic [Hsu, 2013] SLC20A2_000001 Coppola Lab UCLA (Andrea Legati)
?/? c.515delA 4 p.(Lys172Argfs*20) g.42320524delT - - - yes 1 - Pathogenic Authors: pathogenic [Zhang, 2013] SLC20A2_000031 Coppola Lab UCLA (Andrea Legati)
?/. c.516+1G>A 4i p.? g.42320522C>T - - - yes - - Pathogenic - [Koyama, 2017] SLC20A2_000103 Coppola Lab UCLA (EMR)
./. c.541C>T 5 p.(Arg181Trp) g.42317486G>A - - - - - - Likely Pathogenic - [Ramos, 2018] SLC20A2_000086 Coppola Lab UCLA (EMR)
./. c.551C>G 5 p.(Pro184Arg) g.42317476G>C - - - yes 1 - Likely Pathogenic - [Taglia,2018] SLC20A2_000105 Coppola Lab (Ariane Ayer)
./. c.551C>G 5 p.(Pro184Arg) g.42317476G>C - - - yes - - Likely Pathogenic Authors: pathogenic [Nan, 2018] SLC20A2_000105 Coppola Lab UCLA (EMR)
?/? c.551C>T 5 p.(Pro184Leu) g.42317476G>A - - - ? 1 - Pathogenic Authors: likely pathogenic [Nicolas, 2013a] SLC20A2_000045 Coppola Lab UCLA (EMR)
./. c.551C>T 5 p.(Pro184Leu) g.42317476G>A - - - - - - Pathogenic - [Ramos, 2018] SLC20A2_000045 Coppola Lab UCLA (EMR)
?/. c.560A>G 5 p.(Tyr187Cys) g.42317467T>C - - - ? - - Uncertain significance - [Lemos, 2015] SLC20A2_000063 Coppola Lab UCLA (EMR)
?/? c.581A>G 5 p.(Asn194Ser) g.42317446T>C 0.000017640 - - ? 1 - Likely Pathogenic Authors: pathogenic [Nicolas, 2013b] SLC20A2_000046 Coppola Lab UCLA (EMR)
./. c.581A>G 5 p.(Asn194Ser) g.42317446T>C 0.000017640 - - - - - Likely Pathogenic - [Ramos, 2018] SLC20A2_000046 Coppola Lab UCLA (EMR)
+?/? c.583_584delGT 5 p.(Val195Leufs*62) g.42317443_42317444delAC - - rs39122397 - 1 - Pathogenic Authors: pathogenic; ClinVar: pathogenic [Hsu, 2013] SLC20A2_000026 Coppola Lab UCLA (Andrea Legati)
+?/. c.613+1_1795-1del 6_10 p.? g.42275486_42317413del - - - - 1 - Pathogenic Authors: likely pathogenic [Grütz, 2016] SLC20A2_000076 Coppola Lab UCLA (EMR)
+/. c.(613+1_614-1)_(730+1_731-1)del 5i_6i p.? g.(42297172_42302163)_(42302281_42317413)del - - - yes - - Pathogenic - [Guo, 2019a] SLC20A2_000124 Coppola Lab UCLA (EMR)
+?/. c.(613+1_614-1)_(730+1_731-1)del 5i_6i p.(Val205_Gly244delinsGly) g.(42297172_42302163)_(423022281_42317413)del - - - - - - Pathogenic - [Giorgio,2019] SLC20A2_000145 Coppola Lab UCLA (EMR)
+?/. c.660delT 6 p.(Phe220Leufs*23) g.42302234delA - - - yes - - Pathogenic - [Chen, 2019b] SLC20A2_000128 Coppola Lab UCLA (EMR)
+?/. c.660delT 6 p.(Phe220Leufs*23) g.42302234delA - - - - - - Pathogenic - [Chen, 2019b] SLC20A2_000128 Coppola Lab UCLA (EMR)
?/. c.730+1G>A 6i p.? g.42302163C>T - - - yes - - Pathogenic - [Huang, 2019] SLC20A2_000107 Coppola Lab UCLA (EMR)
?/. c.730+1G>A 6i p.? g.42302163C>T - - - - - - Pathogenic - [Guo, 2019] SLC20A2_000107 Coppola Lab UCLA (EMR)
./. c.730+1G>T 6i p.? g.42302163C>A - - - - - - Pathogenic - [Ramos, 2018] SLC20A2_000087 Coppola Lab UCLA (EMR)
./. c.739C>T 7 p.(Gln247*) g.42297163G>A - - - - - - Pathogenic - [Ramos, 2018] SLC20A2_000098 Coppola Lab UCLA (EMR)
?/. c.739C>T 7 p.(Gln247*) g.42297163G>A - - - - - - Pathogenic - [Guo, 2019] SLC20A2_000098 Coppola Lab UCLA (EMR)
+?/. c.739delC 7 p.(Gln247Lysfs*71) g.42297163delG - - - yes - - Pathogenic - [Chen, 2019b] SLC20A2_000138 Coppola Lab UCLA (EMR)
+?/. c.750delT 7 p.(Ala251Leufs*67) g.42297152delA - - - - - - Pathogenic Authors: likely pathogenic [Lemos, 2015] SLC20A2_000064 Coppola Lab UCLA (EMR)
+?/? c.760C>T 7 p.(Arg254*) g.42297142G>A - - - yes 1 - Pathogenic Authors: pathogenic [Hsu, 2013] SLC20A2_000002 Coppola Lab UCLA (Andrea Legati)
+?/. c.760C>T 7 p.(Arg254*) g.42297142G>A - - - - - - Pathogenic - [Chen, 2019b] SLC20A2_000002 Coppola Lab UCLA (EMR)
?/. c.849C>A 7 p.(Ser283Arg) g.42297053G>T - - - - - - Uncertain significance - [Chen, 2019b] SLC20A2_000139 Coppola Lab UCLA (EMR)
?/? c.935-1G>A 7i p.? g.42295096C>T - - - yes 1 - Pathogenic Authors: pathogenic [Chen, 2013] SLC20A2_000035 Coppola Lab UCLA (EMR)
?/. c.935-1G>A 7i p.? g.42295096C>T - - - - - - Pathogenic - [Guo, 2019] SLC20A2_000035 Coppola Lab UCLA (EMR)
?/. c.971C>A 8 p.(Ser324*) g.42295059G>T - - - - - - Pathogenic - [Knowles, 2018] SLC20A2_000102 Coppola Lab UCLA (EMR)
?/. c.1008C>A 8 p.(His336Gln) g.42295022G>T - - - - - - Uncertain significance - [Chen, 2019b] SLC20A2_000140 Coppola Lab UCLA (EMR)
?/? c.1086delC 8 p.(His362Glnfs*93) g.42294944delG - - - yes 1 - Pathogenic Authors: pathogenic [Zhu, 2014] SLC20A2_000055 Coppola Lab UCLA (EMR)
+?/. c.1101_1102delCG 8 p.(Glu368Glyfs*46) g.42294928_42294929delCG - - - yes 1 - Pathogenic Authors: pathogenic [Taglia, 2014] SLC20A2_000061 Coppola Lab UCLA (EMR)
+?/. c.1138del 8 p.(Leu380Cysfs*75) g.42294892del - - - - - - Pathogenic Authors: likely pathogenic [Lemos, 2015] SLC20A2_000069 Coppola Lab UCLA (EMR)
?/? c.1145G>A 8 p.(Arg382Gln) g.42294885C>T 0.000016490 - rs200010919 yes 1 - Uncertain significance Authors: pathogenic [Hsu, 2013] SLC20A2_000011 Coppola Lab UCLA (Andrea Legati)
?/. c.1157dup 8 p.(Tyr386*) g.42294873dup 0.000008243 0.000003979 - - - - Pathogenic - [Guo, 2019] SLC20A2_000113 Coppola Lab UCLA (EMR)
+?/. c.1157dupA 8 p.(Tyr386*) g.42294873dupT - - - yes - - Pathogenic - [Chen, 2019b] SLC20A2_000129 Coppola Lab UCLA (EMR)
+?/. c.1157dupA 8 p.(Tyr386*) g.42294873dupT - - - - - - Pathogenic - [Chen, 2019b] SLC20A2_000129 Coppola Lab UCLA (EMR)
+?/. c.1157dupA 8 p.(Tyr386*) g.42294873dupT - - - - - - Pathogenic - [Chen, 2019b] SLC20A2_000129 Coppola Lab UCLA (EMR)
./. c.1158C>A 8 p.(Tyr386*) g.42294872G>T - - - - - - Pathogenic - [Ramos, 2018] SLC20A2_000088 Coppola Lab UCLA (EMR)
+?/. c.1158C>A 8 p.(Tyr386*) g.42294872G>T - - - - - - Pathogenic - [Mi, 2017] SLC20A2_000088 Coppola Lab UCLA (EMR)
?/? c.1158C>G 8 p.(Tyr386*) g.42294872G>C - - - ? 1 - Pathogenic Authors: pathogenic [Ferreira, 2014] SLC20A2_000047 Coppola Lab UCLA (EMR)
?/. c.1168A>G 8 p.(Thr390Ala) g.42294862T>C - - - yes - - Pathogenic - [Chen, 2019b] SLC20A2_000130 Coppola Lab UCLA (EMR)
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