ClinVar (all) for Orgtrack (Select 507424) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 869112	NM_000969.5(RPL5):c.[189+267G>C;189+288A>G;189+309A>G;189+364G>A;189+387A>T]	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6	Gassociation
Select item 830069	NM_000969.5(RPL5):c.189+267G>C	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6	Grisk factor