ClinVar for MedGen (Select 1672912) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1702982	NM_001930.4(DHPS):c.460_461del (p.Arg154fs)	DHPS (R112fs +1 more)	Deletion (frameshift variant +2 more)	Neurodevelopmental disorder with seizures and speech and walking impairment	GLikely pathogenic
Select item 1329852	NM_016145.4(WDR83OS):c.156+1G>T	WDR83, WDR83OS	Single nucleotide variant (intron variant +1 more)	Neurodevelopmental disorder with seizures and speech and walking impairment +1 more	GConflicting classifications of pathogenicity
Select item 560197	NM_001930.4(DHPS):c.1A>G (p.Met1Val)	LOC112543448, DHPS (M1V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 560196	NM_001930.4(DHPS):c.1014+1G>A	DHPS	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 560195	NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del)	DHPS	Deletion (inframe_deletion +2 more)	Neurodevelopmental disorder with seizures and speech and walking impairment +1 more	GLikely pathogenic
Select item 560194	NM_001930.4(DHPS):c.518A>G (p.Asn173Ser)	DHPS (N173S +1 more)	Single nucleotide variant (missense variant +2 more)	DHPS-related disorder +2 more	GPathogenic/Likely pathogenic

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