Related gene-specific medical variations for Gene (Select 1725) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366299	NM_001930.4(DHPS):c.937G>C (p.Asp313His)	DHPS (D130H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3354413	NM_001930.4(DHPS):c.21G>A (p.Arg7=)	DHPS, LOC112543448	Single nucleotide variant (synonymous variant +2 more)	DHPS-related disorder	GLikely benign
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 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 3233899	NM_001930.4(DHPS):c.126C>G (p.Tyr42Ter)	DHPS, LOC112543448 (Y42*)	Single nucleotide variant (nonsense +2 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 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 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 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)	not provided	GLikely benign
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 2568461	NM_001930.4(DHPS):c.32C>G (p.Ala11Gly)	DHPS, LOC112543448 (A11G)	Single nucleotide variant (missense variant +2 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 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 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 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 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 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 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 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 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 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 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

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Links from Gene

Items: 24