"Revvity Omics, Revvity"[submitter] AND "DHDDS"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440758	NM_205861.3(DHDDS):c.40C>T (p.Arg14Trp)	DHDDS (R14W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 30709	NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	DHDDS (K42E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59 +3 more	GPathogenic
Select item 2440757	NM_205861.3(DHDDS):c.290C>T (p.Ala97Val)	DHDDS (A4V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440756	NM_205861.3(DHDDS):c.622_646del (p.Gly208fs)	DHDDS (G115fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 488193	NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln)	DHDDS (R211Q +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59 +2 more	GPathogenic
Select item 2440754	NM_205861.3(DHDDS):c.685C>A (p.Pro229Thr)	DHDDS (P136T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429923	NM_205861.3(DHDDS):c.688G>A (p.Val230Ile)	DHDDS (V137I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 800922	NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys)	DHDDS (E149K +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59 +2 more	GUncertain significance
Select item 645460	NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro)	DHDDS (R264P +4 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59 +2 more	GUncertain significance
Select item 2440753	NM_205861.3(DHDDS):c.944A>G (p.Gln315Arg)	DHDDS (Q222R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance