ClinVar for PubMed (Select 21295283) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3007141	NM_205861.3(DHDDS):c.125A>G (p.Lys42Arg)	DHDDS (K42R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 1525125	NC_000001.10:g.(?_26764639)_(26764795_?)del	DHDDS	Deletion	Retinitis pigmentosa 59	GPathogenic
Select item 30709	NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	DHDDS (K42E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic

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