List of variants reported as uncertain significance for Isovaleryl-CoA dehydrogenase deficiency by Illumina Clinical Services Laboratory,Illumina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 62

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HGVS	dbSNP
NM_002225.3(IVD):c.-237G>C	rs749128466
NM_002225.3(IVD):c.-315C>G	rs886051126
NM_002225.5(IVD):c.*1005T>C	rs560096869
NM_002225.5(IVD):c.*1090A>G
NM_002225.5(IVD):c.*1117G>A	rs886051132
NM_002225.5(IVD):c.*112G>T
NM_002225.5(IVD):c.*1172C>T
NM_002225.5(IVD):c.*1213A>T	rs886051133
NM_002225.5(IVD):c.*123G>A	rs536728525
NM_002225.5(IVD):c.*1240T>A
NM_002225.5(IVD):c.*1245C>T
NM_002225.5(IVD):c.*1313C>G
NM_002225.5(IVD):c.*131G>A
NM_002225.5(IVD):c.*1636G>A
NM_002225.5(IVD):c.*1839C>G
NM_002225.5(IVD):c.*1884G>A
NM_002225.5(IVD):c.*1898G>A	rs886051134
NM_002225.5(IVD):c.*1944C>T
NM_002225.5(IVD):c.*196G>A
NM_002225.5(IVD):c.*1984G>C
NM_002225.5(IVD):c.*2001G>A
NM_002225.5(IVD):c.*2005G>A	rs886051135
NM_002225.5(IVD):c.*204T>G	rs886051127
NM_002225.5(IVD):c.*2125A>C
NM_002225.5(IVD):c.*2205C>T
NM_002225.5(IVD):c.*2302G>A	rs886051136
NM_002225.5(IVD):c.*2389C>T
NM_002225.5(IVD):c.*2494C>G	rs781683880
NM_002225.5(IVD):c.*2494C>T
NM_002225.5(IVD):c.*2630G>A	rs28654574
NM_002225.5(IVD):c.*287C>T
NM_002225.5(IVD):c.*2883T>A
NM_002225.5(IVD):c.*290dup	rs529793013
NM_002225.5(IVD):c.*2960C>T
NM_002225.5(IVD):c.*3036A>C
NM_002225.5(IVD):c.*338G>A	rs879231133
NM_002225.5(IVD):c.*566A>G	rs549510775
NM_002225.5(IVD):c.*566A>T
NM_002225.5(IVD):c.*568A>T
NM_002225.5(IVD):c.*611T>G	rs886051130
NM_002225.5(IVD):c.*652C>T
NM_002225.5(IVD):c.*699G>A
NM_002225.5(IVD):c.*787T>C
NM_002225.5(IVD):c.*798A>G
NM_002225.5(IVD):c.*805G>A
NM_002225.5(IVD):c.*809G>A	rs886051131
NM_002225.5(IVD):c.*822G>T
NM_002225.5(IVD):c.1001T>C (p.Met334Thr)	rs368041528
NM_002225.5(IVD):c.1138+13C>T
NM_002225.5(IVD):c.1139-8G>C	rs755640305
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)	rs143348838
NM_002225.5(IVD):c.150T>A (p.Arg50=)	rs762440985
NM_002225.5(IVD):c.400A>G (p.Ile134Val)	rs151118565
NM_002225.5(IVD):c.464G>A (p.Ser155Asn)	rs140182461
NM_002225.5(IVD):c.490A>G (p.Met164Val)
NM_002225.5(IVD):c.618del (p.Ile206fs)	rs781630355
NM_002225.5(IVD):c.784+13G>A	rs369694967
NM_002225.5(IVD):c.796C>G (p.Leu266Val)	rs766980574
NM_002225.5(IVD):c.823G>C (p.Val275Leu)
NM_002225.5(IVD):c.832A>C (p.Ser278Arg)	rs552272986
NM_002225.5(IVD):c.833G>C (p.Ser278Thr)
NM_002225.5(IVD):c.879-5G>A	rs750569823

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