All variants affecting transcripts

280 entries on 3 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg19)     

ExAC MAF     

gnomAD MAF     

dbSNP ID     

Segregation     

# Affected Unrelated     

Zygosity     

ACMG class     

Other Classification     

Reference     

DB-ID     

Owner     

Effect     

DNA change (cDNA)     

Exon     

Protein     
MYORG NM_020702.4 9 Both (homozygous) g.34371412delC - - - - - Homozygous Pathogenic - [Ramos, 2019] MYORG_000001 Coppola Lab UCLA (EMR) +?/. c.1530delG 2 p.(Asn511Thrfs*243)
MYORG NM_020702.4 9 Both (homozygous) g.34372717C>T 0.000009709 0.000012230 rs760451348 yes - Homozygous Pathogenic - [Yao,2018] MYORG_000002 Coppola Lab UCLA (EMR) +?/. c.225G>A 2 p.(Trp75*)
MYORG NM_020702.4 9 Both (homozygous) g.34372247G>A - 0.000008336 rs757434146 yes - Homozygous Likely Pathogenic - [Yao, 2018] MYORG_000003 Coppola Lab UCLA (EMR) +?/. c.695C>T 2 p.(Ser232Leu)
MYORG NM_020702.4 9 Both (homozygous) g.34371609G>A - - - - - Homozygous Pathogenic - [Peng, 2019] MYORG_000004 Coppola Lab UCLA (EMR) +?/. c.1333C>T 2 p.(Gln445*)
MYORG NM_020702.4 9 Unknown g.34371709delG - - - yes - Homozygous Pathogenic - [Arkadir, 2018] MYORG_000005 Coppola Lab UCLA (EMR) +?/. c.1233delC 2 p.(Phe411Leufs*23)
MYORG NM_020702.4 9 Both (homozygous) g.34371880_34371882delGTC - 0.000012030 rs1180204613 yes - Homozygous Likely Pathogenic - [Arkadir, 2018] MYORG_000006 Coppola Lab UCLA (EMR) -?/. c.1060_1062delGAC 2 p.(Asp354del)
MYORG NM_020702.4 9 Both (homozygous) g.34370975A>G 0.000033650 0.000025000 rs370944350 yes - Homozygous Likely Pathogenic - [Forouhideh, 2019] MYORG_000007 Coppola Lab UCLA (EMR) +?/. c.1967T>C 2 p.(Ile656Thr)
MYORG NM_020702.4 9 Both (homozygous) g.34372593insGCGGAAGGCCAG 0.000028860 0.000035270 rs775762093 - - Homozygous Likely Pathogenic - [Chen, 2019] MYORG_000008 Coppola Lab UCLA (EMR) +?/. c.337_348dup 2 p.(Leu113_Arg116dup)
MYORG NM_020702.4 9 Both (homozygous) g.34371511G>T - - - - - Homozygous Pathogenic - [Chen, 2019] MYORG_000009 Coppola Lab UCLA (EMR) +?/. c.1431C>A 2 p.(Tyr477*)
MYORG NM_020702.4 9 Both (homozygous) g.34372500_34372514del - - - yes - Homozygous Likely Pathogenic - [Chen, 2019] MYORG_000010 Coppola Lab UCLA (EMR) +?/. c.428_442delTGCACTTCTTCATCC 2 p.(Leu143_Ile147del)
MYORG NM_020702.4 9 Unknown g.34372255C>A - - - - - Compound Heterozygous Likely Pathogenic - [Chen, 2019] MYORG_000011 Coppola Lab UCLA (EMR) +?/. c.687G>T 2 p.(Trp229Cys)
MYORG NM_020702.4 9 Unknown g.34372593insGCGGAAGGCCAG 0.000028860 0.000035270 rs775762093 - - Compound Heterozygous Likely Pathogenic - [Chen, 2019] MYORG_000008 Coppola Lab UCLA (EMR) +?/. c.337_348dup 2 p.(Leu113_Arg116dup)
MYORG NM_020702.4 9 Unknown g.34371614C>T - - - yes - Compound Heterozygous Pathogenic - [Yao,2018] MYORG_000012 Coppola Lab UCLA (EMR) +?/. c.1328G>A 2 p.(Trp443*)
MYORG NM_020702.4 9 Unknown g.34372839T>C 0.000008287 0.000020070 rs765483979 yes - Compound Heterozygous Likely Pathogenic - [Yao, 2018] MYORG_000013 Coppola Lab UCLA (EMR) +?/. c.103A>G 2 p.(Met35Val)
MYORG NM_020702.4 9 Unknown g.34372717C>T 0.000009709 0.000012230 rs760451348 yes - Compound Heterozygous Pathogenic - [Yao, 2018] MYORG_000002 Coppola Lab UCLA (EMR) +?/. c.225G>A 2 p.(Trp75*)
MYORG NM_020702.4 9 Unknown g.34371621G>C 0.000010920 0.000004381 rs749427106 yes - Compound Heterozygous Likely Pathogenic - [Yao, 2018] MYORG_000014 Coppola Lab UCLA (EMR) +?/. c.1321C>G 2 p.(Arg441Gly)
MYORG NM_020702.4 9 Unknown g.34372335G>A - - - - - Compound Heterozygous Pathogenic - [Yao, 2018] MYORG_000015 Coppola Lab UCLA (EMR) +?/. c.607C>T 2 p.(Gln203*)
MYORG NM_020702.4 9 Unknown g.34372159_34372160delinsAA - - - - - Compound Heterozygous Likely Pathogenic - [Yao, 2018] MYORG_000016 Coppola Lab UCLA (EMR) +?/. c.782_783delinsTT 2 p.(Arg261Leu)
MYORG NM_020702.4 9 Unknown g.34371845_34371850delTCGAAG - - rs1398218251 - - Compound Heterozygous Likely Pathogenic - [Yao, 2018] MYORG_000017 Coppola Lab UCLA (EMR) +?/. c.1092_1097delCTTCGA 2 p.(Phe365_Asp366del)
MYORG NM_020702.4 9 Unknown g.34372593insGCGGAAGGCCAG 0.000028860 0.000035270 rs775762093 - - Compound Heterozygous Likely Pathogenic - [Yao, 2018] MYORG_000008 Coppola Lab UCLA (EMR) +?/. c.337_348dup 2 p.(Leu113_Arg116dup)
MYORG NM_020702.4 9 Unknown g.34371077A>G - - rs1239594469 - - Compound Heterozygous Likely Pathogenic - [Grangeon, 2019] MYORG_000018 Coppola Lab UCLA (EMR) +?/. c.1865T>C 2 p.(Leu622Pro)
MYORG NM_020702.4 9 Unknown g.34372604A>C - - - - - Compound Heterozygous Likely Pathogenic - [Grangeon, 2019] MYORG_000019 Coppola Lab UCLA (EMR) +?/. c.338T>G 2 p.(Leu113Arg)
MYORG NM_020702.4 9 Unknown g.34370975A>G 0.000033650 0.000025000 rs370944350 - - Compound Heterozygous Likely Pathogenic - [Grangeon, 2019] MYORG_000007 Coppola Lab UCLA (EMR) +?/. c.1967T>C 2 p.(Ile656Thr)
MYORG NM_020702.4 9 Unknown g.34371515G>T - - rs769099047 - - Compound Heterozygous Likely Pathogenic - [Grangeon, 2019] MYORG_000020 Coppola Lab UCLA (EMR) +?/. c.1427C>A 2 p.(Thr476Asn)
MYORG NM_020702.4 9 Unknown g.34371642C>G - 0.000011450 rs916933188 - - Homozygous Likely Pathogenic - [Grangeon, 2019] MYORG_000021 Coppola Lab UCLA (EMR) +?/. c.1300G>C 2 p.(Asp434His)
MYORG NM_020702.4 9 Unknown g.34370963A>T - - - - - Homozygous Likely Pathogenic - [Grangeon, 2019] MYORG_000022 Coppola Lab UCLA (EMR) +?/. c.1979T>A 2 p.(Leu660Gln)
MYORG NM_020702.4 9 Unknown g.34372195C>G - 0.000004122 rs1356560096 - - Homozygous Likely Pathogenic - [Grangeon, 2019] MYORG_000023 Coppola Lab UCLA (EMR) +?/. c.747G>C 2 p.(Trp249Cys)
MYORG NM_020702.4 9 Unknown g.34371111G>A - - rs536187898 - - Compound Heterozygous Likely Pathogenic - [Grangeon, 2019] MYORG_000024 Coppola Lab UCLA (EMR) +?/. c.1831C>T 2 p.(Arg611Trp)
MYORG NM_020702.4 9 Unknown g.34372594_34372605dupGCGGAAGGCCAG 0.000028860 0.000035270 rs775762093 - - Compound Heterozygous Likely Pathogenic - [Grangeon, 2019] MYORG_000008 Coppola Lab UCLA (EMR) +?/. c.337_348dup 2 p.(Leu113_Arg116dup)
MYORG NM_020702.4 9 Unknown g.34371402_34371404delAGG - - - - - Compound Heterozygous Likely Pathogenic - [Grangeon, 2019] MYORG_000025 Coppola Lab UCLA (EMR) +?/. c.1538_1540delCCT 2 p.(Ser513del)
MYORG NM_020702.4 9 Unknown g.34371824G>T - - - - - Compound Heterozygous Likely Pathogenic - [Grangeon, 2019] MYORG_000026 Coppola Lab UCLA (EMR) +?/. c.1118C>A 2 p.(Ala373Asp)
MYORG NM_020702.4 9 Unknown g.34372234_34372236dupGGC - - - yes - Homozygous Likely Pathogenic - [Grangeon, 2019] MYORG_000027 Coppola Lab UCLA (EMR) +?/. c.706_708dupGCC 2 p.(Ala236dup)
MYORG NM_020702.4 9 Unknown g.34372594_34372605dupGCGGAAGGCCAG 0.000028860 0.000035270 rs775762093 - - Compound Heterozygous Likely Pathogenic - [Grangeon, 2019] MYORG_000008 Coppola Lab UCLA (EMR) +?/. c.337_348dup 2 p.(Leu113_Arg116dup)
MYORG NM_020702.4 9 Unknown g.34371609G>A - - - - - Compound Heterozygous Pathogenic - [Grangeon, 2019] MYORG_000004 Coppola Lab UCLA (EMR) +?/. c.1333C>T 2 p.(Gln445*)
MYORG NM_020702.4 9 Unknown g.34371864delA - - - - - Compound Heterozygous Pathogenic - [Grangeon, 2019] MYORG_000028 Coppola Lab UCLA (EMR) +?/. c.1078delT 2 p.(Tyr360MetfsTer74)
MYORG NM_020702.4 9 Unknown g.34371548dupC 0.000010190 0.000004298 - - - Compound Heterozygous Pathogenic - [Grangeon, 2019] MYORG_000029 Coppola Lab UCLA (EMR) +?/. c.1394dupG 2 p.(Glu466ArgfsTer27)
MYORG NM_020702.4 9 Unknown g.34372751C>T - 0.000004036 rs756514041 yes - Homozygous Likely Pathogenic - [Grangeon, 2019] MYORG_000030 Coppola Lab UCLA (EMR) +?/. c.191G>A 2 p.(Gly64Glu)
MYORG NM_020702.4 9 Both (homozygous) g.34372087_34372088dupCA - - - - - Homozygous Pathogenic - [Ferreira, 2019] MYORG_000031 Coppola Lab UCLA (EMR) ?/. c.854_855dupTG 2 p.(Gly286Trpfs*149)
MYORG NM_020702.3 9 Both (homozygous) g.34372087_34372088dupCA - - - - - Homozygous Pathogenic - [Ferreira, 2019] MYORG_000031 Coppola Lab UCLA (EMR) ?/. c.854_855dupTG 2 p.(Gly286Trpfs*?)
PDGFB NM_002608.2 22 Unknown g.39639966C>T - - rs398122399 yes 1 - Likely Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Keller, 2013] PDGFB_000001 Coppola Lab UCLA (EMR) ?/? c.3G>A 1 p.(Met1?)
PDGFB NM_002608.2 22 Unknown g.39627638G>A - - rs397515633 yes 1 - Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Keller, 2013] PDGFB_000007 Coppola Lab UCLA (EMR) ?/? c.445C>T 4 p.(Arg149*)
PDGFB NM_002608.2 22 Unknown g.39639943A>C - - - yes 1 - Likely Pathogenic Authors: likely pathogenic [Keller, 2013] PDGFB_000011 Coppola Lab UCLA (Andrea Legati) ?/? c.26T>G 1 p.(Leu9Arg)
PDGFB NM_002608.2 22 Unknown g.39627727A>G - - rs397515632 yes 1 - Likely Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Keller, 2013] PDGFB_000012 Coppola Lab UCLA (EMR) ?/? c.356T>C 4 p.(Leu119Pro)
PDGFB NM_002608.2 22 Unknown g.39627650G>A - - rs397515631 yes 1 - Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Keller, 2013] PDGFB_000013 Coppola Lab UCLA (EMR) ?/? c.433C>T 4 p.(Gln145*)
PDGFB NM_002608.2 22 Unknown g.39621728C>G - - rs398122398 yes 1 - Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Keller, 2013] PDGFB_000014 Coppola Lab UCLA (EMR) ?/? c.726G>C 6 p.(*242Tyrext*89)
PDGFB NM_002608.2 22 Unknown g.39627638G>A - - rs397515633 yes 1 - Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Hayashi, 2015] PDGFB_000007 Coppola Lab UCLA (Andrea Legati) ?/? c.445C>T 4 p.(Arg149*)
PDGFB NM_002608.2 22 Unknown g.39627644G>A - - - ? 1 - Pathogenic Authors: pathogenic [Nicolas, 2014] PDGFB_000015 Coppola Lab UCLA (Andrea Legati) ?/? c.439C>T 4 p.(Gln147*)
PDGFB NM_002608.2 22 Unknown g.39622528_39629767del441 - - - ? 1 - Likely Pathogenic Authors: pathogenic [Nicolas, 2014] PDGFB_000016 Coppola Lab UCLA (EMR) ./. c.161-238_602-676del441 3-5 p.Glu54Aladel147
PDGFB NM_002608.2 22 Unknown g.39631882G>C - - - ? 1 - Likely Pathogenic Authors: likely pathogenic [Nicolas, 2015] PDGFB_000017 Coppola Lab UCLA (EMR) ./. c.64-3C>G 1i p.?
PDGFB NM_002608.2 22 Unknown g.39627800C>T 0.000009168 - - ? 1 - Likely Pathogenic Authors: likely pathogenic [Nicolas,2015] PDGFB_000018 Coppola Lab UCLA (EMR) ./. c.283G>A 4 p.(Ala95Thr)
PDGFB NM_002608.2 22 Unknown g.39627755G>C - - - ? 1 - Likely Pathogenic Authors: likely pathogenic [Nicolas,2015] PDGFB_000019 Coppola Lab UCLA (EMR) ./. c.328C>G 4 p.(Leu110Val)
PDGFB NM_002608.2 22 Unknown g.39627718G>A - - - yes 1 - Likely Pathogenic Authors: pathogenic [Keogh, 2015] PDGFB_000020 Coppola Lab UCLA (EMR) ./. c.365C>T 4 p.(Pro122Leu)
PDGFB NM_002608.2 22 Unknown g.39639966C>G - - - yes 1 - Likely Pathogenic Authors: likely pathogenic [Biancheri, 2016] PDGFB_000021 Coppola Lab UCLA (EMR) ./. c.3G>C 1 p.Met1?
PDGFB NM_002608.2 22 Unknown g.39629470C>A - - - yes 1 - Pathogenic Authors: likely pathogenic [Yao,2016] PDGFB_000022 Coppola Lab UCLA (EMR) ?/. c.220G>T 3 p.(Glu74*)
PDGFB NM_002608.2 22 Unknown g.39639943A>C - - - yes 1 - Uncertain significance - [Paucar, 2016] PDGFB_000011 Coppola Lab UCLA (EMR) ./. c.26T>G 1 p.(Leu9Arg)
PDGFB NM_002608.2 22 Unknown g.39627689C>G - - - - - - Likely Pathogenic - [Ramos, 2018] PDGFB_000023 Coppola Lab UCLA (EMR) ./. c.394G>C 4 p.(Gly132Arg)
PDGFB NM_002608.2 22 Unknown g.39627658C>T 0.000036300 - - - - - Uncertain significance - [Ramos, 2018] PDGFB_000024 Coppola Lab UCLA (EMR) ./. c.425G>A 4 p.(Arg142His)
PDGFB NM_002608.2 22 Unknown g.39627638G>A - - rs397515633 - - - Pathogenic - [Ramos, 2018] PDGFB_000007 Coppola Lab UCLA (EMR) ./. c.445C>T 4 p.(Arg149*)
PDGFB NM_002608.2 22 Unknown g.39627626C>T - - - - - - Pathogenic - [Ramos, 2018] PDGFB_000025 Coppola Lab UCLA (EMR) ./. c.456+1G>A 4i p.?
PDGFB NM_002608.2 22 Unknown g.39621730A>G - - - - - - Pathogenic - [Ramos, 2018] PDGFB_000026 Coppola Lab UCLA (EMR) ./. c.724T>C 6 p.(*242Glnext*89)
PDGFB NM_002608.2 22 Unknown g.39621728C>G - - rs398122398 - - - Pathogenic - [Ramos, 2018] PDGFB_000014 Coppola Lab UCLA (EMR) ./. c.726G>C 6 p.(*242Tyrext*89)
PDGFB NM_002608.2 22 Unknown g.39621853C>A - - - - - - Pathogenic - [Koyama, 2017] PDGFB_000027 Coppola Lab UCLA (EMR) ?/. c.602-1G>T 5i p.?
PDGFB NM_002608.2 22 Unknown g.39629458G>A - - - yes - - Likely Pathogenic - [Wang, 2017] PDGFB_000028 Coppola Lab UCLA (EMR) ?/. c.232C>T 3 p.(Arg78Cys)
PDGFB NM_002608.2 22 Unknown g.39629458G>A - - - - - - Likely Pathogenic Uncertain significance [authors] [Yao, 2017] PDGFB_000028 Coppola Lab UCLA (EMR) ?/. c.232C>T 3 p.(Arg78Cys)
PDGFB NM_002608.2 22 Unknown g.39621844G>T 0.000033240 0.000054290 - - - - Uncertain significance Uncertain significance [authors] [Yao, 2017] PDGFB_000029 Coppola Lab UCLA (EMR) ?/. c.610C>A 6 p.(Pro204Thr)
PDGFB NM_002608.2 22 Unknown g.39629470C>A - - - - - - Pathogenic - [Guo, 2019] PDGFB_000022 Coppola Lab UCLA (EMR) ?/. c.220G>T 3 p.(Glu74*)
PDGFB NM_002608.2 22 Unknown g.39629458G>A - - - - - - Likely Pathogenic - [Guo, 2019] PDGFB_000028 Coppola Lab UCLA (EMR) ?/. c.232C>T 3 p.(Arg78Cys)
PDGFB NM_002608.2 22 Unknown g.39631781A>T - - - - - - Pathogenic - [Sekine, 2019] PDGFB_000030 Coppola Lab UCLA (EMR) +/. c.160+2T>A 2i p.?
PDGFB NM_002608.2 22 Unknown g.39626234C>A - - - yes - - Pathogenic - [Sekine, 2019] PDGFB_000031 Coppola Lab UCLA (EMR) +/. c.457-1G>T 4i p.?
PDGFB NM_002608.2 22 Unknown g.39639935_39639936delAG - - - - - - Pathogenic - [Sekine, 2019] PDGFB_000032 Coppola Lab UCLA (EMR) +/. c.33_34delCT 1 p.(Cys12Leufs*19)
PDGFB NM_002608.2 22 Unknown g.39627740_39627741insC - - - - - - Pathogenic - [Sekine, 2019] PDGFB_000033 Coppola Lab UCLA (EMR) +?/. c.342_343insG 4 p.(Asn115Glufs*52)
PDGFB NM_002608.2 22 Unknown g.39621844G>T 0.000033240 0.000053220 rs758645604 - - - Uncertain significance - [Chen, 2019b] PDGFB_000029 Coppola Lab UCLA (EMR) ?/. c.610C>A 6 p.(Pro204Thr)
PDGFB NM_002608.2 22 Unknown g.39627754A>G - - - - - - Likely Pathogenic - [Zhan, 2019] PDGFB_000034 Coppola Lab UCLA (EMR) +/. c.329T>C 4 p.(Leu110Pro)
PDGFRB NM_002609.3 5 Unknown g.149497359G>A 0.000017040 0.000028500 rs397509382 ? 1 - Uncertain significance Authors: uncertain; ClinVar: pathogenic [Nicolas, 2013a] PDGFRB_000001 Coppola Lab UCLA (EMR) ./. c.2959C>T 22 p.(Arg987Trp)
PDGFRB NM_002609.3 5 Unknown g.149503863A>G - - - yes 1 - Likely Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Nicolas, 2013a] PDGFRB_000002 Coppola Lab UCLA (EMR) ./. c.1973T>C 14 p.(Leu658Pro)
PDGFRB NM_002609.3 5 Unknown g.149495435T>A - - - ? 1 - Uncertain significance Authors: uncertain [Nicolas, 2013b] PDGFRB_000003 Coppola Lab UCLA (EMR) ./. c.3212A>T 23 p.(Glu1071Val)
PDGFRB NM_002609.3 5 Unknown g.149502705G>A 0.000082390 0.000111900 - ? 1 - Uncertain significance Authors: uncertain; ClinVar: likely pathogenic [Sanchez-Contreras, 2014] PDGFRB_000004 Coppola Lab UCLA (EMR) ./. c.2083C>T 15 p.(Arg695Cys)
PDGFRB NM_002609.3 5 Unknown g.149516608C>T - - - yes 1 - Pathogenic Authors: likely pathogenic [Wang, 2017] PDGFRB_000005 Coppola Lab UCLA (EMR) ?/. c.3G>A 2 p.Met1?
PDGFRB NM_002609.3 5 Unknown g.149501578C>T 0.000008252 0.000004060 - yes 1 - Uncertain significance Authors: uncertain [Wang, 2017] PDGFRB_000006 Coppola Lab UCLA (EMR) ./. c.2209G>A 16 p.(Asp737Asn)
PDGFRB NM_002609.3 5 Unknown g.149513527G>A - - - - - - Uncertain significance - [Ramos, 2018] PDGFRB_000007 Coppola Lab UCLA (EMR) ./. c.676C>T 5 p.(Arg226Cys)
PDGFRB NM_002609.3 5 Unknown g.149505028G>A - - - - - - Uncertain significance - [Ramos, 2018] PDGFRB_000008 Coppola Lab UCLA (EMR) ./. c.1787C>T 12 p.(Pro596Leu)
PDGFRB NM_002609.3 5 Unknown g.149500506T>C - - - - - - Pathogenic - [Ramos, 2018] PDGFRB_000009 Coppola Lab UCLA (EMR) ./. c.2531A>G 18 p.(Asp844Gly)
PDGFRB NM_002609.3 5 Unknown g.149512314G>A 0.000019990 0.000011020 - - - - Uncertain significance - [DeMeo, 2017] PDGFRB_000010 Coppola Lab UCLA (EMR) ?/. c.1126C>T 7 p.(Arg376Trp)
PDGFRB NM_002609.3 5 Unknown g.149516608C>T - - - - - - Pathogenic - [Guo, 2019] PDGFRB_000005 Coppola Lab UCLA (EMR) ?/. c.3G>A 2 p.Met1?
PDGFRB NM_002609.3 5 Unknown g.149501578C>T 0.000008252 0.000007958 - - - - Uncertain significance - [Guo, 2019] PDGFRB_000006 Coppola Lab UCLA (EMR) ?/. c.2209G>A 16 p.(Asp737Asn)
PDGFRB NM_002609.3 5 Unknown g.149504368C>T - - - - - - Likely Pathogenic - [Mathorne, 2019] PDGFRB_000011 Coppola Lab UCLA (EMR) +?/. c.1834G>A 13 p.(Gly612Arg)
SLC20A2 NM_006749.4 8 Parent #1 g.42320525T>A - - - ? 1 - Pathogenic Authors: pathogenic [Hsu, 2013] SLC20A2_000001 Coppola Lab UCLA (Andrea Legati) +?/. c.514A>T 4 p.(Lys172*)
SLC20A2 NM_006749.4 8 Parent #1 g.42297142G>A - - - yes 1 - Pathogenic Authors: pathogenic [Hsu, 2013] SLC20A2_000002 Coppola Lab UCLA (Andrea Legati) +?/? c.760C>T 7 p.(Arg254*)
SLC20A2 NM_006749.4 8 Unknown g.42294506C>T - - - yes 1 - Pathogenic Authors: pathogenic [Hsu, 2013] SLC20A2_000005 Coppola Lab UCLA (Andrea Legati) ?/? c.1523+1G>A 8i p.?
SLC20A2 NM_006749.4 8 Parent #1 g.42294524G>T - - - ? 1 - Likely Pathogenic Authors: likely pathogenic [Hsu, 2013] SLC20A2_000008 Coppola Lab UCLA (Andrea Legati) ?/? c.1506C>A 8 p.(His502Gln)
SLC20A2 NM_006749.4 8 Parent #1 g.42294885C>T 0.000016490 - rs200010919 yes 1 - Uncertain significance Authors: pathogenic [Hsu, 2013] SLC20A2_000011 Coppola Lab UCLA (Andrea Legati) ?/? c.1145G>A 8 p.(Arg382Gln)
SLC20A2 NM_006749.4 8 Parent #1 g.42287588G>A 0.000025530 - - yes 1 - Likely Pathogenic Authors: likely pathogenic [Hsu, 2013] SLC20A2_000014 Coppola Lab UCLA (Andrea Legati) ?/? c.1703C>T 9 p.(Pro568Leu)
SLC20A2 NM_006749.4 8 Parent #1 g.42287639C>T 0.000008261 - - yes 1 - Pathogenic Authors: pathogenic [Hsu, 2013] SLC20A2_000015 Coppola Lab UCLA (Andrea Legati) ?/? c.1652G>A 9 p.(Trp551*)
SLC20A2 NM_006749.4 8 Unknown g.42286275C>T - - - ? 1 - Pathogenic Authors: likely pathogenic [Hsu, 2013] SLC20A2_000016 Coppola Lab UCLA (Andrea Legati) ?/? c.1794+1G>A 10i p.?
SLC20A2 NM_006749.4 8 Unknown g.42320530delA - - rs398122395 no 1 - Pathogenic Authors: pathogenic; ClinVar: pathogenic [Hsu, 2013] SLC20A2_000025 Coppola Lab UCLA (Andrea Legati) ?/? c.509delT 4 p.(Leu170*)
SLC20A2 NM_006749.4 8 Unknown g.42317443_42317444delAC - - rs39122397 - 1 - Pathogenic Authors: pathogenic; ClinVar: pathogenic [Hsu, 2013] SLC20A2_000026 Coppola Lab UCLA (Andrea Legati) +?/? c.583_584delGT 5 p.(Val195Leufs*62)
SLC20A2 NM_006749.4 8 Unknown g.42286275C>G - - - ? 1 - Pathogenic Authors: likely pathogenic [Hsu, 2013] SLC20A2_000027 Coppola Lab UCLA (Andrea Legati) ?/? c.1794+1G>C 10i p.?
SLC20A2 NM_006749.4 8 Unknown g.42275478G>A - - rs387906652 ? 1 - Likely Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Wang, 2012] SLC20A2_000028 Coppola Lab UCLA (Andrea Legati) ?/? c.1802C>T 11 p.(Ser601Leu)
SLC20A2 NM_006749.4 8 Unknown g.42275449_42275452delGGGA - - rs398122396 - 1 - Pathogenic Authors: likely pathogenic; ClinVar: pathogenic [Hsu, 2013] SLC20A2_000029 Coppola Lab UCLA (Andrea Legati) +?/. c.1828_1831delTCCC 11 p.(Ser610Alafs*18)
SLC20A2 NM_006749.4 8 Unknown g.42294547C>T - - - yes 1 - Uncertain significance - [Lemos, 2013] SLC20A2_000030 Coppola Lab UCLA (Andrea Legati) ?/? c.1483G>A 8 p.(Ala495Thr)
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