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disease: not provided

id17556
namenot provided
descriptionThe term 'not provided' is registered in MedGen to support identification of submissions to ClinVar for which no condition was named when assessing the variant. 'not provided' differs from 'not specified', which is used when a variant is asserted to be benign, likely benign, or of uncertain significance for conditions that have not been specified.
variant-disease NM_014585.5(SLC40A1):c.1112G>A (p.Arg371Gln) AND not provided
NM_000130.4(F5):c.3187dupA (p.Arg1063Lysfs) AND not provided
NM_000130.4(F5):c.5668G>A (p.Glu1890Lys) AND not provided
NM_000548.5(TSC2):c.4889_4989+135del AND not provided
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) AND not provided
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