"GeneDx"[submitter] AND "QDPR"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58026	GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3	BST1, C1QTNF7 +84 more	Copy number gain	See cases	GPathogenic
Select item 348148	NM_000320.3(QDPR):c.*246del	QDPR	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GBenign
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)	Dihydropteridine reductase deficiency +1 more	GBenign
Select item 1279118	NM_000320.3(QDPR):c.630-46A>T	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287411	NM_000320.3(QDPR):c.630-91C>T	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257842	NM_000320.3(QDPR):c.630-144A>G	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214483	NM_000320.3(QDPR):c.629+237C>T	QDPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254079	NM_000320.3(QDPR):c.629+140A>G	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281863	NM_000320.3(QDPR):c.546-62A>G	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261390	NM_000320.3(QDPR):c.546-194T>C	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302802	NM_000320.3(QDPR):c.545+24T>C	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 494	NM_000320.3(QDPR):c.449A>G (p.Tyr150Cys)	QDPR (Y150C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1275157	NM_000320.3(QDPR):c.437-66A>G	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177729	NM_000320.3(QDPR):c.437-91T>C	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246787	NM_000320.3(QDPR):c.437-210T>C	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290011	NM_000320.3(QDPR):c.437-299C>T	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182810	NM_000320.3(QDPR):c.436+2437G>T	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599039	NM_000320.3(QDPR):c.436+19A>G	QDPR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 255819	NM_000320.3(QDPR):c.396G>A (p.Leu132=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
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 459896	NM_000320.3(QDPR):c.344C>T (p.Ser115Leu)	QDPR (S115L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 388955	NM_000320.3(QDPR):c.296-5C>T	QDPR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1241717	NM_000320.3(QDPR):c.296-62G>A	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224867	NM_000320.3(QDPR):c.296-64G>A	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248209	NM_000320.3(QDPR):c.296-69T>C	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266987	NM_000320.3(QDPR):c.296-79A>G	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277250	NM_000320.3(QDPR):c.296-216A>G	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223080	NM_000320.3(QDPR):c.295+115T>C	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 348160	NM_000320.3(QDPR):c.255C>T (p.Cys85=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency +1 more	GBenign
Select item 1265509	NM_000320.3(QDPR):c.199-9G>C	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261170	NM_000320.3(QDPR):c.199-43G>A	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288544	NM_000320.3(QDPR):c.199-66C>T	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226434	NM_000320.3(QDPR):c.198+187C>T	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234646	NM_000320.3(QDPR):c.106-141A>G	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278573	NM_000320.3(QDPR):c.106-256G>A	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242685	NM_000320.3(QDPR):c.105+115T>C	LOC129992304, QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294083	NM_000320.3(QDPR):c.105+74del	LOC129992304, QDPR	Deletion (intron variant)	not provided	GBenign
Select item 449241	NM_000320.3(QDPR):c.79G>A (p.Val27Met)	LOC129992304, QDPR (V27M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 432122	NM_000320.3(QDPR):c.44T>C (p.Val15Ala)	QDPR, LOC129992304 (V15A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 503646	NM_000320.3(QDPR):c.1A>T (p.Met1Leu)	LOC129992304, QDPR (M1L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 348163	NM_000320.3(QDPR):c.-47C>G	LOC129992304, QDPR	Single nucleotide variant	BH4-Deficient Hyperphenylalaninemia +2 more	GBenign
Select item 348166	NM_000320.2(QDPR):c.-81C>T	LOC129992304, QDPR	Single nucleotide variant	not provided +1 more	GBenign
Select item 348165	NM_000320.3(QDPR):c.-81del	LOC129992304, QDPR	Deletion	not provided +2 more	GBenign/Likely benign
Select item 1181581	NC_000004.12:g.17512330C>G	QDPR	Single nucleotide variant	not provided	GBenign
Select item 1274396	NC_000004.12:g.17512513C>A	QDPR	Single nucleotide variant	not provided	GBenign
Select item 1233760	NC_000004.12:g.17512519A>G	QDPR	Single nucleotide variant	not provided	GBenign
Select item 1255322	NC_000004.12:g.17512537C>T	QDPR	Single nucleotide variant	not provided	GBenign
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 253400	GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3	LAP3, CC2D2A +71 more	Copy number gain	See cases	GPathogenic

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Items: 51