"Ambry Genetics"[submitter] AND "DHPS"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2356310	NM_001099737.3(WDR83):c.529C>T (p.Arg177Cys)	DHPS, WDR83 (R177C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374818	NM_001099737.3(WDR83):c.548G>A (p.Gly183Glu)	DHPS, WDR83 (G183E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488686	NM_001099737.3(WDR83):c.568G>A (p.Val190Met)	DHPS, WDR83 (V190M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332973	NM_001099737.3(WDR83):c.614G>A (p.Cys205Tyr)	DHPS, WDR83 (C205Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2372718	NM_001099737.3(WDR83):c.695A>G (p.His232Arg)	DHPS, WDR83 (H232R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353762	NM_001099737.3(WDR83):c.737G>A (p.Arg246His)	DHPS, WDR83 (R246H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190299	NM_001099737.3(WDR83):c.755G>C (p.Ser252Thr)	DHPS, WDR83 (S252T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600703	NM_001099737.3(WDR83):c.755G>A (p.Ser252Asn)	DHPS, WDR83 (S252N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190300	NM_001099737.3(WDR83):c.769G>A (p.Gly257Arg)	DHPS, WDR83 (G257R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190301	NM_001099737.3(WDR83):c.818T>C (p.Leu273Pro)	DHPS, WDR83 (L273P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315437	NM_001099737.3(WDR83):c.845C>T (p.Ser282Leu)	DHPS, WDR83 (S282L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376284	NM_001099737.3(WDR83):c.883G>A (p.Ala295Thr)	DHPS, WDR83 (A295T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562385	NM_001099737.3(WDR83):c.923A>G (p.Tyr308Cys)	DHPS, WDR83 (Y308C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082030	NM_001930.4(DHPS):c.953G>A (p.Gly318Asp)	DHPS (G135D +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271790	NM_001930.4(DHPS):c.907G>A (p.Ala303Thr)	DHPS (A120T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271787	NM_001930.4(DHPS):c.758C>T (p.Pro253Leu)	DHPS (P253L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531293	NM_001930.4(DHPS):c.649C>G (p.Pro217Ala)	DHPS (P217A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557931	NM_001930.4(DHPS):c.498C>G (p.Ile166Met)	DHPS (I166M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2552794	NM_001930.4(DHPS):c.485G>C (p.Gly162Ala)	DHPS (G120A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1448487	NM_001930.4(DHPS):c.484G>A (p.Gly162Arg)	DHPS (G162R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2349205	NM_001930.4(DHPS):c.400G>A (p.Gly134Ser)	DHPS (G134S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602061	NM_001930.4(DHPS):c.284C>G (p.Thr95Ser)	DHPS (T53S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371568	NM_001930.4(DHPS):c.272G>A (p.Arg91His)	DHPS (R49H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082029	NM_001930.4(DHPS):c.271C>T (p.Arg91Cys)	DHPS (R49C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082028	NM_001930.4(DHPS):c.262A>T (p.Thr88Ser)	DHPS (T88S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271788	NM_001930.4(DHPS):c.254C>T (p.Ala85Val)	DHPS (A43V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355603	NM_001930.4(DHPS):c.211G>A (p.Glu71Lys)	DHPS (E29K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2375217	NM_001930.4(DHPS):c.196G>A (p.Val66Ile)	DHPS, LOC112543448 (V66I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2485246	NM_001930.4(DHPS):c.193C>G (p.Gln65Glu)	DHPS, LOC112543448 (Q65E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271789	NM_001930.4(DHPS):c.46G>A (p.Ala16Thr)	DHPS, LOC112543448 (A16T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568461	NM_001930.4(DHPS):c.32C>G (p.Ala11Gly)	DHPS, LOC112543448 (A11G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 31