ClinVar for MedGen (Select 209234) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240236	NM_000317.3(PTS):c.379_383del (p.Val126_Leu127insTer)	PTS	Deletion (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 3240235	NM_000317.3(PTS):c.244-2A>G	PTS	Single nucleotide variant (splice acceptor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 3240234	NM_000317.3(PTS):c.315-2A>C	PTS	Single nucleotide variant (splice acceptor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 3068470	NM_000317.3(PTS):c.71A>C (p.His24Pro)	LOC130006765, PTS (H24P)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 3022379	NM_000317.3(PTS):c.244-9T>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 3019691	NM_000317.3(PTS):c.177A>G (p.Val59=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 3004375	NM_000317.3(PTS):c.244-4C>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 3003001	NM_000317.3(PTS):c.63C>T (p.Ser21=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2992477	NM_000317.3(PTS):c.243+10T>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2992455	NM_000317.3(PTS):c.314+14T>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2992126	NM_000317.3(PTS):c.327T>C (p.Asn109=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2983803	NM_000317.3(PTS):c.163+17T>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2961333	NM_000317.3(PTS):c.164-10C>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2959852	NM_000317.3(PTS):c.261C>A (p.Pro87=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2959038	NM_000317.3(PTS):c.303A>G (p.Ala101=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2919703	NM_000317.3(PTS):c.164-4A>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2910294	NM_000317.3(PTS):c.322G>T (p.Glu108Ter)	PTS (E108*)	Single nucleotide variant (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 2910293	NM_000317.3(PTS):c.193C>T (p.Pro65Ser)	PTS (P65S)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 2904974	NM_000317.3(PTS):c.315-8del	PTS	Deletion (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GBenign
Select item 2898811	NM_000317.3(PTS):c.83+12A>G	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2897190	NM_000317.3(PTS):c.186+20G>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2894161	NM_000317.3(PTS):c.243+15G>T	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2892165	NM_000317.3(PTS):c.76T>C (p.Leu26=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2891483	NM_000317.3(PTS):c.186+14A>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2881206	NM_000317.3(PTS):c.186+18T>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2865278	NM_000317.3(PTS):c.83+11C>T	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2864906	NM_000317.3(PTS):c.314+20G>A	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2850511	NM_000317.3(PTS):c.231A>G (p.Lys77=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2846270	NM_000317.3(PTS):c.314+11C>T	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2837017	NM_000317.3(PTS):c.75A>T (p.Arg25=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2827274	NM_000317.3(PTS):c.84-18T>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2812490	NM_000317.3(PTS):c.83+9T>C	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2811259	NM_000317.3(PTS):c.84-4T>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2809631	NM_000317.3(PTS):c.189dup (p.Asp64Ter)	PTS (D64*)	Duplication (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 2780234	NM_000317.3(PTS):c.244-8G>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2778362	NM_000317.3(PTS):c.196G>A (p.Ala66Thr)	PTS (A66T)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 2766927	NM_000317.3(PTS):c.370G>C (p.Val124Leu)	PTS (V124L)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 2756973	NM_000317.3(PTS):c.84-10T>A	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2754490	NM_000317.3(PTS):c.186+17T>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2749059	NM_000317.3(PTS):c.222T>A (p.Ala74=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2747394	NM_000317.3(PTS):c.186+19T>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2742778	NM_000317.3(PTS):c.186+18T>A	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2742756	NM_000317.3(PTS):c.243+11G>A	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2740287	NM_000317.3(PTS):c.315-8T>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2736501	NM_000317.3(PTS):c.315-17del	PTS	Deletion (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2722518	NM_000317.3(PTS):c.420G>A (p.Val140=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2721801	NM_000317.3(PTS):c.315-17G>T	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2715870	NM_000317.3(PTS):c.83+12A>C	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2711342	NM_000317.3(PTS):c.315-17G>A	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2708181	NM_000317.3(PTS):c.187-10T>A	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2704000	NM_000317.3(PTS):c.3G>T (p.Met1Ile)	LOC130006765, PTS (M1I)	Single nucleotide variant (missense variant +1 more)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 2702932	NM_000317.3(PTS):c.141T>C (p.Asn47=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2689846	NM_000317.3(PTS):c.243+4A>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 2678105	NM_000317.3(PTS):c.23_27dup (p.Cys10fs)	LOC130006765, PTS (C10fs)	Duplication (frameshift variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 2678104	NM_000317.3(PTS):c.83+1G>C	LOC130006765, PTS	Single nucleotide variant (splice donor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 2678103	NM_000317.3(PTS):c.399C>G (p.Tyr133Ter)	PTS (Y133*)	Single nucleotide variant (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 2678102	NM_000317.3(PTS):c.271A>G (p.Lys91Glu)	PTS (K91E)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2678101	NM_000317.3(PTS):c.276T>A (p.Asn92Lys)	PTS (N92K)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 2432884	NM_000317.3(PTS):c.256C>T (p.Gln86Ter)	PTS (Q86*)	Single nucleotide variant (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 2422869	NC_000011.9:g.(?_111171709)_(112104278_?)dup	BCO2, ALG9 +24 more	Duplication	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 2422868	NC_000011.9:g.(?_112103876)_(112104288_?)del	PTS	Deletion	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 2419656	NM_000317.3(PTS):c.315-6T>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2416618	NM_000317.3(PTS):c.245A>G (p.Glu82Gly)	PTS (E82G)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2415103	NM_000317.3(PTS):c.315-1G>A	PTS	Single nucleotide variant (splice acceptor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 2200338	NM_000317.3(PTS):c.186+19del	PTS	Deletion (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2189424	NM_000317.3(PTS):c.83+5G>T	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 2156573	NM_000317.3(PTS):c.123G>A (p.Gly41=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2156433	NM_000317.3(PTS):c.11A>G (p.Glu4Gly)	LOC130006765, PTS (E4G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2152701	NM_000317.3(PTS):c.315-8dup	PTS	Duplication (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GBenign
Select item 2144321	NM_000317.3(PTS):c.84-2A>G	PTS	Single nucleotide variant (splice acceptor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 2140551	NM_000317.3(PTS):c.243+13T>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2137249	NM_000317.3(PTS):c.385A>G (p.Lys129Glu)	PTS (K129E)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 2137247	NM_000317.3(PTS):c.186+1G>A	PTS	Single nucleotide variant (splice donor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 2132909	NM_000317.3(PTS):c.356A>G (p.Gln119Arg)	PTS (Q119R)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 2127771	NM_000317.3(PTS):c.243+1G>T	PTS	Single nucleotide variant (splice donor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 2121804	NM_000317.3(PTS):c.186+7G>A	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2113592	NM_000317.3(PTS):c.187-8T>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2109612	NM_000317.3(PTS):c.369T>C (p.Pro123=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2102533	NM_000317.3(PTS):c.318G>T (p.Thr106=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2099890	NM_000317.3(PTS):c.105A>C (p.Glu35Asp)	PTS (E35D)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 2098756	NM_000317.3(PTS):c.164-37dup	PTS	Duplication (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 2089763	NM_000317.3(PTS):c.243+7G>A	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2068755	NM_000317.3(PTS):c.83+5G>A	LOC130006765, PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 2056067	NM_000317.3(PTS):c.244-8G>A	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2046344	NM_000317.3(PTS):c.47G>A (p.Arg16His)	LOC130006765, PTS (R16H)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 2046210	NM_000317.3(PTS):c.85A>T (p.Lys29Ter)	PTS (K29*)	Single nucleotide variant (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 2032318	NM_000317.3(PTS):c.292_293insATACTTTG (p.Pro98fs)	PTS (P98fs)	Insertion (frameshift variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 2027048	NM_000317.3(PTS):c.84-1G>A	PTS	Single nucleotide variant (splice acceptor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 2023844	NM_000317.3(PTS):c.84-8T>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2017672	NM_000317.3(PTS):c.147T>C (p.His49=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2006811	NM_000317.3(PTS):c.277C>T (p.Leu93=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2006282	NM_000317.3(PTS):c.372A>G (p.Val124=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 2001923	NM_000317.3(PTS):c.120T>C (p.Phe40=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1989612	NM_000317.3(PTS):c.244-17C>T	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1979497	NM_000317.3(PTS):c.84-5G>C	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1968383	NM_000317.3(PTS):c.48C>T (p.Arg16=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1958550	NM_000317.3(PTS):c.303A>C (p.Ala101=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1950089	NM_000317.3(PTS):c.130A>G (p.Asn44Asp)	PTS (N44D)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 1949361	NM_000317.3(PTS):c.24T>C (p.Arg8=)	LOC130006765, PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign
Select item 1948042	NM_000317.3(PTS):c.309G>A (p.Val103=)	PTS	Single nucleotide variant (synonymous variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely benign

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