All genomic variants

276 entries on 3 pages. Showing entries 1 - 100.
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Variant ID     

Effect     

Chr     

AscendingDNA change (genomic) (hg19)     

ExAC MAF     

gnomAD MAF     

dbSNP ID     

Segregation     

# Affected Unrelated     

Zygosity     

ACMG class     

Other Classification     

Reference     

DB-ID     

Owner     
0000000147 ./. 1 g.180772560T>C - - - - 1 - Likely Pathogenic Authors: pathogenic [Anheim,2016] XPR1_000005 Coppola Lab UCLA (EMR)
0000000128 ./. 1 g.180772707G>A - - - ? 1 - Likely Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Legati, 2015] XPR1_000001 Coppola Lab UCLA (EMR)
0000000129 ./. 1 g.180772719T>C - - - ? 1 - Likely Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Legati, 2015] XPR1_000002 Coppola Lab UCLA (EMR)
0000000130 ./. 1 g.180772734T>C - - - yes 2 - Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Legati,2015] XPR1_000003 Coppola Lab UCLA (EMR)
0000000158 ./. 1 g.180772734T>C - - - - - - Pathogenic - [Ramos, 2018] XPR1_000003 Coppola Lab UCLA (EMR)
0000000241 +/. 1 g.180775240G>T - - - - - - Likely Pathogenic - [Guo, 2019] XPR1_000009 Coppola Lab UCLA (EMR)
0000000131 ./. 1 g.180775665T>C - - - ? 1 - Likely Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Legati,2015] XPR1_000004 Coppola Lab UCLA (EMR)
0000000159 ./. 1 g.180780558A>T 0.000016500 - - - - - Likely Pathogenic - [Ramos, 2018] XPR1_000006 Coppola Lab UCLA (EMR)
0000000160 +/. 1 g.180805726C>T - - - - - - Pathogenic - [Ramos, 2018] XPR1_000007 Coppola Lab UCLA (EMR)
0000000242 +/. 1 g.180842978C>T - - - - - - Likely Pathogenic - [Guo, 2019] XPR1_000010 Coppola Lab UCLA (EMR)
0000000161 +?/. 1 g.180849258A>G - - - - - - Likely Pathogenic - [Ramos, 2018] XPR1_000008 Coppola Lab UCLA (EMR)
0000000330 +/. 1 g.180849289T>G - - - - - - Pathogenic - [López-Sánchez, 2019] XPR1_000012 Coppola Lab UCLA (EMR)
0000000307 ?/. 1 g.180849421G>A 0.000074160 0.000063650 rs368909346 - - - Uncertain significance - [Chen, 2019b] XPR1_000011 Coppola Lab UCLA (EMR)
0000000113 ./. 5 g.149495435T>A - - - ? 1 - Uncertain significance Authors: uncertain [Nicolas, 2013b] PDGFRB_000003 Coppola Lab UCLA (EMR)
0000000111 ./. 5 g.149497359G>A 0.000017040 0.000028500 rs397509382 ? 1 - Uncertain significance Authors: uncertain; ClinVar: pathogenic [Nicolas, 2013a] PDGFRB_000001 Coppola Lab UCLA (EMR)
0000000164 ./. 5 g.149500506T>C - - - - - - Pathogenic - [Ramos, 2018] PDGFRB_000009 Coppola Lab UCLA (EMR)
0000000153 ./. 5 g.149501578C>T 0.000008252 0.000004060 - yes 1 - Uncertain significance Authors: uncertain [Wang, 2017] PDGFRB_000006 Coppola Lab UCLA (EMR)
0000000244 ?/. 5 g.149501578C>T 0.000008252 0.000007958 - - - - Uncertain significance - [Guo, 2019] PDGFRB_000006 Coppola Lab UCLA (EMR)
0000000114 ./. 5 g.149502705G>A 0.000082390 0.000111900 - ? 1 - Uncertain significance Authors: uncertain; ClinVar: likely pathogenic [Sanchez-Contreras, 2014] PDGFRB_000004 Coppola Lab UCLA (EMR)
0000000112 ./. 5 g.149503863A>G - - - yes 1 - Likely Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Nicolas, 2013a] PDGFRB_000002 Coppola Lab UCLA (EMR)
0000000275 +?/. 5 g.149504368C>T - - - - - - Likely Pathogenic - [Mathorne, 2019] PDGFRB_000011 Coppola Lab UCLA (EMR)
0000000163 ./. 5 g.149505028G>A - - - - - - Uncertain significance - [Ramos, 2018] PDGFRB_000008 Coppola Lab UCLA (EMR)
0000000210 ?/. 5 g.149512314G>A 0.000019990 0.000011020 - - - - Uncertain significance - [DeMeo, 2017] PDGFRB_000010 Coppola Lab UCLA (EMR)
0000000162 ./. 5 g.149513527G>A - - - - - - Uncertain significance - [Ramos, 2018] PDGFRB_000007 Coppola Lab UCLA (EMR)
0000000152 ?/. 5 g.149516608C>T - - - yes 1 - Pathogenic Authors: likely pathogenic [Wang, 2017] PDGFRB_000005 Coppola Lab UCLA (EMR)
0000000243 ?/. 5 g.149516608C>T - - - - - - Pathogenic - [Guo, 2019] PDGFRB_000005 Coppola Lab UCLA (EMR)
0000000305 +?/. 8 g.(42320609_42323294)_(42323436_42329619) - - - yes - - Likely Pathogenic - [Chen, 2019b] SLC20A2_000134 Coppola Lab UCLA (EMR)
0000000267 ?/. 8 g.41346129_43050788del - - - - - - Pathogenic - [Guo, 2019a] SLC20A2_000123 Coppola Lab UCLA (EMR)
0000000126 +?/. 8 g.42247654_42810910del - - - yes 1 - Pathogenic Authors: likely pathogenic [Baker, 2014] SLC20A2_000067 Coppola Lab UCLA (EMR)
0000000335 +?/. 8 g.(?_42275320)_(42297172_42302163)del - - - - - - Pathogenic - [Giorgio,2019] SLC20A2_000146 Coppola Lab UCLA (EMR)
0000000331 +?/. 8 g.(?_42275321)_(42329908_?)del - - - - - - Pathogenic - [Mu, 2019] SLC20A2_000067 Coppola Lab UCLA (EMR)
0000000137 ./. 8 g.42275371T>G - - - - 3 - Likely Pathogenic Authors: likely pathogenic [Kimura, 2015]; [Yamada, 2014] SLC20A2_000054 Coppola Lab UCLA (EMR)
0000000200 ./. 8 g.42275393_42275404dup - - - ? 1 - Likely Pathogenic Authors: likely pathogenic [Taglia,2017] SLC20A2_000101 Coppola Lab UCLA (EMR)
0000000329 ?/. 8 g.42275398C>T - - rs200761348 - - - Uncertain significance - [Chen, 2019b] SLC20A2_000143 Coppola Lab UCLA (EMR)
0000000303 ?/. 8 g.42275404A>T - - - - - - Uncertain significance - [Chen, 2019b] SLC20A2_000133 Coppola Lab UCLA (EMR)
0000000328 ?/. 8 g.42275404A>T - - - - - - Uncertain significance - [Chen, 2019b] SLC20A2_000133 Coppola Lab UCLA (EMR)
0000000198 ./. 8 g.42275409A>T - - - - - - Uncertain significance - [Ramos, 2018] SLC20A2_000100 Coppola Lab UCLA (EMR)
0000000197 ./. 8 g.42275432_42275458del - - - - - - Likely Pathogenic - [Ramos, 2018] SLC20A2_000099 Coppola Lab UCLA (EMR)
0000000070 +?/. 8 g.42275449_42275452delGGGA - - rs398122396 - 1 - Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Hsu, 2013] SLC20A2_000029 Coppola Lab UCLA (Andrea Legati)
0000000240 +/. 8 g.42275469G>A - - - - - - Likely Pathogenic - [Guo, 2019] SLC20A2_000122 Coppola Lab UCLA (EMR)
0000000239 +/. 8 g.42275470C>G - - - - - - Likely Pathogenic - [Guo, 2019] SLC20A2_000121 Coppola Lab UCLA (EMR)
0000000069 ?/? 8 g.42275478G>A - - rs387906652 ? 1 - Likely Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Wang, 2012] SLC20A2_000028 Coppola Lab UCLA (Andrea Legati)
0000000107 ?/? 8 g.42275478G>A - - rs387906652 ? 2 - Likely Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Hsu, 2013] SLC20A2_000028 Coppola Lab UCLA (EMR)
0000000327 ?/. 8 g.42275478G>A - 0.000004027 rs387906652 - - - Likely Pathogenic - [Chen, 2019b] SLC20A2_000028 Coppola Lab UCLA (EMR)
0000000106 ?/? 8 g.42275478G>C - - rs387906652 yes 1 - Likely Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Wang, 2012] SLC20A2_000057 Coppola Lab UCLA (EMR)
0000000326 ?/. 8 g.42275479A>G - - - - - - Likely Pathogenic - [Chen, 2019b] SLC20A2_000142 Coppola Lab UCLA (EMR)
0000000336 +?/. 8 g.42275486C>T - - - - - - Pathogenic - [Giorgio,2019] SLC20A2_000147 Coppola Lab UCLA (EMR)
0000000145 +?/. 8 g.42275486_42317413del - - - - 1 - Pathogenic Authors: likely pathogenic [Grütz, 2016] SLC20A2_000076 Coppola Lab UCLA (EMR)
0000000238 ?/. 8 g.42286275C>A - - - - - - Pathogenic - [Guo, 2019] SLC20A2_000120 Coppola Lab UCLA (EMR)
0000000068 ?/? 8 g.42286275C>G - - - ? 1 - Pathogenic Authors: likely pathogenic [Hsu, 2013] SLC20A2_000027 Coppola Lab UCLA (Andrea Legati)
0000000018 ?/? 8 g.42286275C>T - - - ? 1 - Pathogenic Authors: likely pathogenic [Hsu, 2013] SLC20A2_000016 Coppola Lab UCLA (Andrea Legati)
0000000117 +?/. 8 g.42286275delC - - - - - - Pathogenic - [Loughran, 2013] SLC20A2_000059 Coppola Lab UCLA (EMR)
0000000138 ./. 8 g.42286280C>T - - - yes 1 - Likely Pathogenic - [Liu,2016] SLC20A2_000070 Coppola Lab UCLA (EMR)
0000000302 ?/. 8 g.42286280C>T - - - - - - Likely Pathogenic - [Chen, 2019b] SLC20A2_000070 Coppola Lab UCLA (EMR)
0000000237 +/. 8 g.42286283T>C - - - - - - Likely Pathogenic - [Guo, 2019] SLC20A2_000119 Coppola Lab UCLA (EMR)
0000000105 ?/? 8 g.42286286G>A - - rs387906654 ? 2 - Likely Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Wang, 2012]; [Taglia, 2014] SLC20A2_000053 Coppola Lab UCLA (EMR)
0000000236 ?/. 8 g.42286286G>A 0.000010520 0.000004070 - - - - Likely Pathogenic - [Guo, 2019] SLC20A2_000053 Coppola Lab UCLA (EMR)
0000000192 ./. 8 g.42286302_42286315del - - - - - - Pathogenic - [Ramos, 2018] SLC20A2_000096 Coppola Lab UCLA (EMR)
0000000124 ./. 8 g.42286302_42286315delGCCCGATGTTGGAG - - - ? - - Pathogenic Authors: likely pathogenic [Lemos, 2015] SLC20A2_000065 Coppola Lab UCLA (EMR)
0000000193 ./. 8 g.42286305C>T - - - - - - Uncertain significance - [Ramos, 2018] SLC20A2_000097 Coppola Lab UCLA (EMR)
0000000301 ?/. 8 g.42286305C>T - 0.000004074 rs1238139011 yes - - Pathogenic - [Chen, 2019b] SLC20A2_000097 Coppola Lab UCLA (EMR)
0000000125 ./. 8 g.42286317C>T 0.000009891 - - ? - - Likely Pathogenic - [Lemos, 2015] SLC20A2_000066 Coppola Lab UCLA (EMR)
0000000191 ./. 8 g.42286317C>T 0.000009891 - - - - - Likely Pathogenic - [Ramos, 2018] SLC20A2_000066 Coppola Lab UCLA (EMR)
0000000235 ?/. 8 g.42286317C>T 0.000009891 0.000004083 - - - - Likely Pathogenic - [Guo, 2019] SLC20A2_000066 Coppola Lab UCLA (EMR)
0000000325 ?/. 8 g.42286317C>T 0.000009891 0.000004083 rs757128846 - - - Likely Pathogenic - [Chen, 2019b] SLC20A2_000066 Coppola Lab UCLA (EMR)
0000000103 ?/? 8 g.42286347C>T - - rs387906653 - - - Likely Pathogenic ClinVar: pathogenic [Schottlaender, 2012] SLC20A2_000052 Coppola Lab UCLA (EMR)
0000000104 ?/? 8 g.42286347C>T - - rs387906653 ? 1 - Likely Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Wang, 2012] SLC20A2_000052 Coppola Lab UCLA (EMR)
0000000234 ?/. 8 g.42286347C>T - - - - - - Likely Pathogenic - [Guo, 2019] SLC20A2_000052 Coppola Lab UCLA (EMR)
0000000324 ?/. 8 g.42286347C>T - - rs387906653 - - - Likely Pathogenic - [Chen, 2019b] SLC20A2_000052 Coppola Lab UCLA (EMR)
0000000102 ?/? 8 g.42286359C>T - - - ? 1 - Uncertain significance Authors: pathogenic [Nicolas, 2013b] SLC20A2_000051 Coppola Lab UCLA (EMR)
0000000233 ?/. 8 g.42286359C>T - 0.000008856 - - - - Uncertain significance - [Guo, 2019] SLC20A2_000051 Coppola Lab UCLA (EMR)
0000000323 ?/. 8 g.42286359C>T - 0.000008856 rs1388992742 - - - Uncertain significance - [Chen, 2019b] SLC20A2_000051 Coppola Lab UCLA (EMR)
0000000016 ?/? 8 g.42287588G>A 0.000025530 - - yes 1 - Likely Pathogenic Authors: likely pathogenic [Hsu, 2013] SLC20A2_000014 Coppola Lab UCLA (Andrea Legati)
0000000136 ./. 8 g.42287588G>A 0.000025530 - - yes 1 - Likely Pathogenic Authors: likely pathogenic [Fjaer, 2015] SLC20A2_000014 Coppola Lab UCLA (EMR)
0000000232 ?/. 8 g.42287588G>A 0.000025530 0.000012150 - - - - Likely Pathogenic - [Guo, 2019] SLC20A2_000014 Coppola Lab UCLA (EMR)
0000000231 +/. 8 g.42287618G>A - - - - - - Likely Pathogenic - [Guo, 2019] SLC20A2_000118 Coppola Lab UCLA (EMR)
0000000322 ?/. 8 g.42287618G>A - - - - - - Uncertain significance - [Chen, 2019b] SLC20A2_000118 Coppola Lab UCLA (EMR)
0000000321 ?/. 8 g.42287628C>T - - - yes - - Uncertain significance - [Chen, 2019b] SLC20A2_000141 Coppola Lab UCLA (EMR)
0000000017 ?/? 8 g.42287639C>T 0.000008261 - - yes 1 - Pathogenic Authors: pathogenic [Hsu, 2013] SLC20A2_000015 Coppola Lab UCLA (Andrea Legati)
0000000230 +/. 8 g.42287651C>G - - - - - - Likely Pathogenic - [Guo, 2019] SLC20A2_000117 Coppola Lab UCLA (EMR)
0000000190 ./. 8 g.42287653_42287654delTG - - - - - - Pathogenic - [Ramos, 2018] SLC20A2_000095 Coppola Lab UCLA (EMR)
0000000115 ?/. 8 g.42287673C>T - - - yes 1 - Uncertain significance Authors: likely pathogenic [Brighina, 2014] SLC20A2_000058 Coppola Lab UCLA (EMR)
0000000101 +?/. 8 g.42287764delA - - - - 1 - Pathogenic Authors: pathogenic [Nicolas, 2013b] SLC20A2_000050 Coppola Lab UCLA (EMR)
0000000188 ./. 8 g.42287769T>C - - - - - - Pathogenic - [Ramos, 2018] SLC20A2_000093 Coppola Lab UCLA (EMR)
0000000005 ?/? 8 g.42294506C>T - - - yes 1 - Pathogenic Authors: pathogenic [Hsu, 2013] SLC20A2_000005 Coppola Lab UCLA (Andrea Legati)
0000000189 ./. 8 g.42294507C>T - - - - - - Uncertain significance - [Ramos, 2018] SLC20A2_000094 Coppola Lab UCLA (EMR)
0000000118 +?/. 8 g.42294509_42294510delCA - - - ? 1 - Pathogenic - [Rubino, 2014] SLC20A2_000060 Coppola Lab UCLA (EMR)
0000000149 ./. 8 g.42294523C>T - - - ? 1 - Uncertain significance - [Kumar,2017] SLC20A2_000077 Coppola Lab UCLA (EMR)
0000000008 ?/? 8 g.42294524G>T - - - ? 1 - Likely Pathogenic Authors: likely pathogenic [Hsu, 2013] SLC20A2_000008 Coppola Lab UCLA (Andrea Legati)
0000000100 ?/? 8 g.42294538C>T - - - yes 1 - Pathogenic Authors: likely pathogenic [Wang, 2012] SLC20A2_000049 Coppola Lab UCLA (EMR)
0000000187 ./. 8 g.42294538C>T - - - - - - Pathogenic - [Ramos, 2018] SLC20A2_000049 Coppola Lab UCLA (EMR)
0000000075 ?/? 8 g.42294547C>T - - - yes 1 - Uncertain significance - [Lemos, 2013] SLC20A2_000030 Coppola Lab UCLA (Andrea Legati)
0000000229 ?/. 8 g.42294552_42294560del - - - - - - Likely Pathogenic - [Guo, 2019] SLC20A2_000116 Coppola Lab UCLA (EMR)
0000000079 ?/? 8 g.42294552_42294560delAGGACCTGC - - - yes 1 - Likely Pathogenic Authors: pathogenic [Chen, 2013] SLC20A2_000034 Coppola Lab UCLA (Andrea Legati)
0000000186 ./. 8 g.42294567T>C - - - - - - Uncertain significance - [Ramos, 2018] SLC20A2_000092 Coppola Lab UCLA (EMR)
0000000185 ./. 8 g.42294604C>A - - - - - - Pathogenic - [Ramos, 2018] SLC20A2_000091 Coppola Lab UCLA (EMR)
0000000110 +?/. 8 g.42294621delG - - - - 1 - Pathogenic Authors: likely pathogenic [Wang, 2012] SLC20A2_000056 Coppola Lab UCLA (EMR)
0000000099 +?/? 8 g.42294631G>A - - - ? 1 - Pathogenic Authors: pathogenic [Yamada, 2014] SLC20A2_000048 Coppola Lab UCLA (EMR)
0000000157 +?/. 8 g.42294631G>A - - - ? 1 - Pathogenic - [Paucar, 2017] SLC20A2_000048 Coppola Lab UCLA (EMR)
0000000320 +?/. 8 g.42294631G>A - - - - - - Pathogenic - [Chen, 2019b] SLC20A2_000048 Coppola Lab UCLA (EMR)
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