ClinVar for MedGen (Select 75682) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068244	NM_000320.3(QDPR):c.344C>G (p.Ser115Trp)	QDPR (S115W +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GPathogenic
Select item 3067884	NM_000320.3(QDPR):c.410_421dup (p.Ala140_Leu141insProLysAlaAla)	QDPR	Duplication (inframe_insertion +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
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 3022391	NM_000320.3(QDPR):c.420C>G (p.Ala140=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 3018227	NM_000320.3(QDPR):c.117C>T (p.Ser39=)	QDPR	Single nucleotide variant (synonymous variant +2 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 3009896	NM_000320.3(QDPR):c.199-18T>A	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 3007499	NM_000320.3(QDPR):c.123T>C (p.Asp41=)	QDPR	Single nucleotide variant (synonymous variant +2 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2998524	NM_000320.3(QDPR):c.436+19A>C	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2997348	NM_000320.3(QDPR):c.630-20A>T	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2992609	NM_000320.3(QDPR):c.204T>C (p.Thr68=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2991809	NM_000320.3(QDPR):c.261T>C (p.Ala87=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2991492	NM_000320.3(QDPR):c.18T>G (p.Ala6=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2983837	NM_000320.3(QDPR):c.12G>A (p.Ala4=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2980447	NM_000320.3(QDPR):c.106-20A>C	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2980271	NM_000320.3(QDPR):c.437-20A>G	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2967634	NM_000320.3(QDPR):c.482G>T (p.Cys161Phe)	QDPR (C130F +1 more)	Single nucleotide variant (missense variant)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 2965879	NM_000320.3(QDPR):c.177G>A (p.Ser59=)	QDPR	Single nucleotide variant (synonymous variant +2 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2964019	NM_000320.3(QDPR):c.437-18C>T	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2956223	NM_000320.3(QDPR):c.545+18C>T	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2920247	NM_000320.3(QDPR):c.105+11G>C	LOC129992304, QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2912176	NM_000320.3(QDPR):c.45G>A (p.Val15=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2910183	NM_000320.3(QDPR):c.328C>T (p.Gln110Ter)	QDPR (Q79* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dihydropteridine reductase deficiency	GPathogenic
Select item 2901868	NM_000320.3(QDPR):c.666G>A (p.Pro222=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2901520	NM_000320.3(QDPR):c.711G>A (p.Thr237=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2890012	NM_000320.3(QDPR):c.296-17A>G	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2889905	NM_000320.3(QDPR):c.345G>T (p.Ser115=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2889394	NM_000320.3(QDPR):c.504C>T (p.Asn168=)	QDPR	Single nucleotide variant (synonymous variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2883228	NM_000320.3(QDPR):c.561C>T (p.Thr187=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2883018	NM_000320.3(QDPR):c.630-19C>A	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2879589	NM_000320.3(QDPR):c.618A>G (p.Glu206=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2878581	NM_000320.3(QDPR):c.437-9A>G	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2876034	NM_000320.3(QDPR):c.629+16A>G	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2870369	NM_000320.3(QDPR):c.516G>T (p.Pro172=)	QDPR	Single nucleotide variant (synonymous variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2869879	NM_000320.3(QDPR):c.199-15G>A	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2869536	NM_000320.3(QDPR):c.210G>A (p.Glu70=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2868538	NM_000320.3(QDPR):c.576A>G (p.Lys192=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2864155	NM_000320.3(QDPR):c.531C>T (p.Ala177=)	QDPR	Single nucleotide variant (synonymous variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2861635	NM_000320.3(QDPR):c.327G>A (p.Lys109=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2860243	NM_000320.3(QDPR):c.348C>T (p.Thr116=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2854102	NM_000320.3(QDPR):c.106-6T>C	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2849838	NM_000320.3(QDPR):c.36G>C (p.Arg12=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2848418	NM_000320.3(QDPR):c.639T>C (p.His213=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2846215	NM_000320.3(QDPR):c.558T>C (p.Asp186=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2845200	NM_000320.3(QDPR):c.546-11G>A	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2845180	NM_000320.3(QDPR):c.630-14A>G	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2834561	NM_000320.3(QDPR):c.40C>T (p.Leu14=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2832606	NM_000320.3(QDPR):c.468T>C (p.Ala156=)	QDPR	Single nucleotide variant (synonymous variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2830854	NM_000320.3(QDPR):c.612C>T (p.Pro204=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2828731	NM_000320.3(QDPR):c.361C>T (p.Leu121=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2828692	NM_000320.3(QDPR):c.553C>T (p.Leu185=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2826902	NM_000320.3(QDPR):c.198+17C>T	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2826534	NM_000320.3(QDPR):c.201G>T (p.Val67=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2823648	NM_000320.3(QDPR):c.296-14T>C	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2821342	NM_000320.3(QDPR):c.105+16G>C	LOC129992304, QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2819032	NM_000320.3(QDPR):c.105+13G>A	LOC129992304, QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2816702	NM_000320.3(QDPR):c.198+19C>A	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2809150	NM_000320.3(QDPR):c.545+14G>A	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2807160	NM_000320.3(QDPR):c.629+2T>C	QDPR	Single nucleotide variant (splice donor variant)	Dihydropteridine reductase deficiency	GPathogenic
Select item 2806968	NM_000320.3(QDPR):c.309C>T (p.Asn103=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2806182	NM_000320.3(QDPR):c.393C>T (p.Leu131=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2803927	NM_000320.3(QDPR):c.630-23_630-20del	QDPR	Deletion (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2801195	NM_000320.3(QDPR):c.198+18C>G	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2791213	NM_000320.3(QDPR):c.106-12T>C	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2790594	NM_000320.3(QDPR):c.437-10C>G	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2789755	NM_000320.3(QDPR):c.106-8C>T	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2788338	NM_000320.3(QDPR):c.519C>G (p.Pro173=)	QDPR	Single nucleotide variant (synonymous variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2787717	NM_000320.3(QDPR):c.24C>G (p.Gly8=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2783941	NM_000320.3(QDPR):c.390C>A (p.Gly130=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2783803	NM_000320.3(QDPR):c.285C>G (p.Ala95=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2783736	NM_000320.3(QDPR):c.545+9T>C	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2783432	NM_000320.3(QDPR):c.219G>A (p.Lys73=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2783290	NM_000320.3(QDPR):c.630-4C>A	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2780038	NM_000320.3(QDPR):c.105G>C (p.Trp35Cys)	LOC129992304, QDPR (W35C)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GLikely pathogenic
Select item 2778005	NM_000320.3(QDPR):c.189G>A (p.Gln63=)	QDPR	Single nucleotide variant (synonymous variant +2 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2777129	NM_000320.3(QDPR):c.144C>T (p.Ala48=)	QDPR	Single nucleotide variant (non-coding transcript variant +2 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2775915	NM_000320.3(QDPR):c.635T>C (p.Phe212Ser)	QDPR (F181S +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GLikely pathogenic
Select item 2771351	NM_000320.3(QDPR):c.42G>A (p.Leu14=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2768376	NM_000320.3(QDPR):c.437-11C>G	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2767045	NM_000320.3(QDPR):c.192T>C (p.Ala64=)	QDPR	Single nucleotide variant (synonymous variant +2 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2766426	NM_000320.3(QDPR):c.681A>C (p.Leu227=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2759143	NM_000320.3(QDPR):c.201G>C (p.Val67=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2759024	NM_000320.3(QDPR):c.92G>C (p.Arg31Pro)	LOC129992304, QDPR (R31P)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 2757447	NM_000320.3(QDPR):c.576del (p.Lys192fs)	QDPR (K192fs +1 more)	Deletion (frameshift variant +1 more)	Dihydropteridine reductase deficiency	GPathogenic
Select item 2753977	NM_000320.3(QDPR):c.531C>A (p.Ala177=)	QDPR	Single nucleotide variant (synonymous variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2753053	NM_000320.3(QDPR):c.198+13A>T	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2752602	NM_000320.3(QDPR):c.523del (p.Ala175fs)	QDPR (A144fs +1 more)	Deletion (frameshift variant)	Dihydropteridine reductase deficiency	GPathogenic
Select item 2751582	NM_000320.3(QDPR):c.437-5C>A	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2750784	NM_000320.3(QDPR):c.105+15T>C	LOC129992304, QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2750783	NM_000320.3(QDPR):c.105+20C>G	LOC129992304, QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2749877	NM_000320.3(QDPR):c.90T>C (p.Phe30=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2746271	NM_000320.3(QDPR):c.199-7G>A	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2743693	NM_000320.3(QDPR):c.437-10C>T	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2741403	NM_000320.3(QDPR):c.720C>A (p.Thr240=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2734652	NM_000320.3(QDPR):c.515C>T (p.Pro172Leu)	QDPR (P172L +1 more)	Single nucleotide variant (missense variant)	Dihydropteridine reductase deficiency	GLikely pathogenic
Select item 2734651	NM_000320.3(QDPR):c.609dup (p.Pro204fs)	QDPR (P204fs +1 more)	Duplication (frameshift variant +1 more)	Dihydropteridine reductase deficiency	GPathogenic
Select item 2730152	NM_000320.3(QDPR):c.54C>A (p.Gly18=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2729465	NM_000320.3(QDPR):c.545+8C>G	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2725287	NM_000320.3(QDPR):c.105+14C>T	LOC129992304, QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2721958	NM_000320.3(QDPR):c.41T>C (p.Leu14Pro)	LOC129992304, QDPR (L14P)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GPathogenic
Select item 2712753	NM_000320.3(QDPR):c.75A>C (p.Arg25=)	QDPR, LOC129992304	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign

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