C0268465[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 348137	NM_000320.3(QDPR):c.*690A>G	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GBenign
Select item 348138	NM_000320.3(QDPR):c.*682A>G	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GBenign
Select item 348139	NM_000320.3(QDPR):c.*622T>C	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GBenign
Select item 900816	NM_000320.3(QDPR):c.*612T>C	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348140	NM_000320.3(QDPR):c.*568T>G	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348141	NM_000320.3(QDPR):c.*510C>T	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GBenign
Select item 348142	NM_000320.3(QDPR):c.*468A>C	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GBenign
Select item 348143	NM_000320.3(QDPR):c.*450T>A	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348144	NM_000320.3(QDPR):c.*408C>T	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GBenign
Select item 348145	NM_000320.3(QDPR):c.*403A>G	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GBenign
Select item 902489	NM_000320.3(QDPR):c.*374G>C	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348146	NM_000320.3(QDPR):c.*329T>G	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348147	NM_000320.3(QDPR):c.*278G>A	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 903353	NM_000320.3(QDPR):c.*277T>C	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348149	NM_000320.3(QDPR):c.*221G>A	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 348151	NM_000320.3(QDPR):c.*220T>C	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 903354	NM_000320.3(QDPR):c.*187A>C	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 903355	NM_000320.3(QDPR):c.*103C>T	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 899738	NM_000320.3(QDPR):c.*46C>A	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348152	NM_000320.3(QDPR):c.*31C>T	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348154	NM_000320.3(QDPR):c.588G>C (p.Glu196Asp)	QDPR (E196D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 348155	NM_000320.3(QDPR):c.516G>C (p.Pro172=)	QDPR	Single nucleotide variant (synonymous variant)	BH4-Deficient Hyperphenylalaninemia +1 more	GConflicting classifications of pathogenicity
Select item 899739	NM_000320.3(QDPR):c.486G>C (p.Gln162His)	QDPR (Q162H +1 more)	Single nucleotide variant (missense variant)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 529411	NM_000320.3(QDPR):c.450C>T (p.Tyr150=)	QDPR	Single nucleotide variant (synonymous variant)	QDPR-related condition +1 more	GConflicting classifications of pathogenicity
Select item 899740	NM_000320.3(QDPR):c.444C>T (p.Ile148=)	QDPR	Single nucleotide variant (synonymous variant)	Dihydropteridine reductase deficiency	GConflicting classifications of pathogenicity
Select item 348156	NM_000320.3(QDPR):c.437-6T>A	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 255819	NM_000320.3(QDPR):c.396G>A (p.Leu132=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency +2 more	GBenign
Select item 863433	NM_000320.3(QDPR):c.359A>G (p.His120Arg)	QDPR (H89R +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348157	NM_000320.3(QDPR):c.345G>A (p.Ser115=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 900896	NM_000320.3(QDPR):c.297T>C (p.Ser99=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GConflicting classifications of pathogenicity
Select item 348158	NM_000320.3(QDPR):c.296-15G>T	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GConflicting classifications of pathogenicity
Select item 900897	NM_000320.3(QDPR):c.287A>G (p.Lys96Arg)	QDPR (K65R +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348159	NM_000320.3(QDPR):c.271G>T (p.Ala91Ser)	QDPR (A91S +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348160	NM_000320.3(QDPR):c.255C>T (p.Cys85=)	QDPR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 348161	NM_000320.3(QDPR):c.157A>G (p.Ile53Val)	QDPR (I53V)	Single nucleotide variant (missense variant +2 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 902566	NM_000320.3(QDPR):c.147C>T (p.Ser49=)	QDPR	Single nucleotide variant (synonymous variant +2 more)	Dihydropteridine reductase deficiency	GConflicting classifications of pathogenicity
Select item 286391	NM_000320.3(QDPR):c.96C>T (p.Ala32=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency +1 more	GBenign
Select item 3062050	NM_000320.3(QDPR):c.49G>A (p.Gly17Ser)	QDPR, LOC129992304 (G17S)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GLikely pathogenic
Select item 902567	NM_000320.3(QDPR):c.-17G>T	LOC129992304, QDPR	Single nucleotide variant (5 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348162	NM_000320.3(QDPR):c.-24G>T	LOC129992304, QDPR	Single nucleotide variant (5 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 348163	NM_000320.3(QDPR):c.-47C>G	LOC129992304, QDPR	Single nucleotide variant	not provided +2 more	GBenign
Select item 348165	NM_000320.2(QDPR):c.-81delC	LOC129992304, QDPR	Deletion	not provided +2 more	GBenign/Likely benign

ClinVar

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Items: 42