"GeneDx"[submitter] AND "DHPS"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
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 2506774	NM_001930.4(DHPS):c.785-1G>C	DHPS	Single nucleotide variant (splice acceptor variant +1 more)	not provided	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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3367774	NM_001930.4(DHPS):c.207+449G>A	DHPS, LOC112543448 (M1I)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1704996	NM_001930.4(DHPS):c.38C>T (p.Ala13Val)	LOC112543448, DHPS (A13V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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