"DHPS-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560195	NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del)	DHPS	Deletion (inframe_deletion +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2571030	NM_001930.4(DHPS):c.784+8G>T	DHPS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3033079	NM_001930.4(DHPS):c.657C>G (p.Ser219=)	DHPS	Single nucleotide variant (synonymous variant +1 more)	DHPS-related disorder	GBenign
Select item 3035505	NM_001930.4(DHPS):c.612T>C (p.Ser204=)	DHPS	Single nucleotide variant (synonymous variant +1 more)	DHPS-related disorder	GBenign
Select item 560194	NM_001930.4(DHPS):c.518A>G (p.Asn173Ser)	DHPS (N173S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3055349	NM_001930.4(DHPS):c.207+462G>A	DHPS (A6T)	Single nucleotide variant (missense variant +2 more)	DHPS-related disorder	GBenign
Select item 3056608	NM_001930.4(DHPS):c.204C>T (p.Ala68=)	DHPS, LOC112543448	Single nucleotide variant (synonymous variant +2 more)	DHPS-related disorder	GBenign
Select item 2649343	NM_001930.4(DHPS):c.191A>G (p.Gln64Arg)	DHPS, LOC112543448 (Q64R)	Single nucleotide variant (missense variant +2 more)	DHPS-related disorder +1 more	GBenign/Likely benign

ClinVar