ClinVar (all) for Orgtrack (Select 506148) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1711858	NM_001242896.3(DEPDC5):c.1445+1G>A	DEPDC5	Single nucleotide variant (splice donor variant)	Epilepsy, familial focal, with variable foci 1	GLikely pathogenic
Select item 570739	NM_205861.3(DHDDS):c.614G>A (p.Arg205Gln)	DHDDS (R205Q +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59 +2 more	GPathogenic
Select item 427234	NC_000014.9:g.105856087G>A	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GPathogenic

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