ClinVar for MedGen (Select 350498) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3015238	NM_018129.4(PNPO):c.364-14T>G	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 3014493	NM_018129.4(PNPO):c.547-4A>G	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2995617	NM_018129.4(PNPO):c.582C>G (p.Leu194=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2995009	NM_018129.4(PNPO):c.546+11C>G	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2994034	NM_018129.4(PNPO):c.27G>A (p.Thr9=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2956471	NM_018129.4(PNPO):c.51G>A (p.Glu17=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2919288	NM_018129.4(PNPO):c.30G>A (p.Ala10=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2909660	NM_018129.4(PNPO):c.138+9G>T	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2908566	NM_018129.4(PNPO):c.138+14G>A	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2905946	NM_018129.4(PNPO):c.600G>A (p.Val200=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2902192	NM_018129.4(PNPO):c.318C>T (p.Gly106=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2901744	NM_018129.4(PNPO):c.546+7G>A	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2899228	NM_018129.4(PNPO):c.537T>C (p.Pro179=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2892339	NM_018129.4(PNPO):c.412C>T (p.Arg138Cys)	PNPO (R138C)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GPathogenic
Select item 2892043	NM_018129.4(PNPO):c.618-13C>T	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2882403	NM_018129.4(PNPO):c.69dup (p.His24fs)	PNPO (H24fs)	Duplication (frameshift variant)	Pyridoxal phosphate-responsive seizures	GPathogenic
Select item 2882387	NM_018129.4(PNPO):c.564T>C (p.Asn188=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2875939	NM_018129.4(PNPO):c.459G>A (p.Glu153=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2868999	NM_018129.4(PNPO):c.547-12C>T	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2867258	NM_018129.4(PNPO):c.546+12T>C	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2866567	NM_018129.4(PNPO):c.228G>A (p.Gly76=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2865824	NM_018129.4(PNPO):c.139-16A>C	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2865801	NM_018129.4(PNPO):c.547-9C>T	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2864908	NM_018129.4(PNPO):c.139-17T>C	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2861059	NM_018129.4(PNPO):c.765C>T (p.Leu255=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2859851	NM_018129.4(PNPO):c.255C>T (p.Thr85=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2856953	NM_018129.4(PNPO):c.264-19C>T	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2848200	NM_018129.4(PNPO):c.471C>T (p.Tyr157=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2846036	NM_018129.4(PNPO):c.255C>G (p.Thr85=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2843512	NM_018129.4(PNPO):c.617+19T>C	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2842249	NM_018129.4(PNPO):c.99C>T (p.Asp33=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2837083	NM_018129.4(PNPO):c.609A>G (p.Pro203=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2835168	NM_018129.4(PNPO):c.102G>A (p.Leu34=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2834791	NM_018129.4(PNPO):c.264-7C>T	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2834433	NM_018129.4(PNPO):c.423T>G (p.Arg141=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2832101	NM_018129.4(PNPO):c.363+13A>T	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2822323	NM_018129.4(PNPO):c.138+1G>A	PNPO	Single nucleotide variant (splice donor variant)	Pyridoxal phosphate-responsive seizures	GLikely pathogenic
Select item 2812664	NM_018129.4(PNPO):c.263+17G>A	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2804196	NM_018129.4(PNPO):c.9C>T (p.Cys3=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2801392	NM_018129.4(PNPO):c.418-15G>A	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2798104	NM_018129.4(PNPO):c.547-1G>A	PNPO	Single nucleotide variant (splice acceptor variant)	Pyridoxal phosphate-responsive seizures	GLikely pathogenic
Select item 2794629	NM_018129.4(PNPO):c.263+17_263+19del	PNPO	Deletion (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2793951	NM_018129.4(PNPO):c.617+20C>A	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2791389	NM_018129.4(PNPO):c.36C>T (p.Phe12=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2791265	NM_018129.4(PNPO):c.295C>T (p.Leu99=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2791016	NM_018129.4(PNPO):c.363+11A>G	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2789189	NM_018129.4(PNPO):c.546+16C>A	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2764342	NM_018129.4(PNPO):c.384C>A (p.Ser128=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2762163	NM_018129.4(PNPO):c.144T>C (p.Phe48=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2761152	NM_018129.4(PNPO):c.364-9T>G	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2756980	NM_018129.4(PNPO):c.139-8T>C	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2754286	NM_018129.4(PNPO):c.330C>T (p.Phe110=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2752924	NM_018129.4(PNPO):c.81T>C (p.Gly27=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2752507	NM_018129.4(PNPO):c.576A>G (p.Glu192=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2752506	NM_018129.4(PNPO):c.570A>G (p.Glu190=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2745863	NM_018129.4(PNPO):c.363+7G>A	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2742155	NM_018129.4(PNPO):c.263+12T>C	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2736612	NM_018129.4(PNPO):c.352G>A (p.Gly118Arg)	PNPO (G118R)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GLikely pathogenic
Select item 2736611	NM_018129.4(PNPO):c.246del (p.Leu83fs)	PNPO (L83fs)	Deletion (frameshift variant)	Pyridoxal phosphate-responsive seizures	GPathogenic
Select item 2728627	NM_018129.4(PNPO):c.418-20C>T	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2722766	NM_018129.4(PNPO):c.420G>A (p.Val140=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2710453	NM_018129.4(PNPO):c.6G>A (p.Thr2=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2707603	NM_018129.4(PNPO):c.276C>T (p.Pro92=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2701518	NM_018129.4(PNPO):c.547-13T>G	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2699284	NM_018129.4(PNPO):c.363+16T>C	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2697912	NM_018129.4(PNPO):c.384C>T (p.Ser128=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2695343	NM_018129.4(PNPO):c.630C>G (p.Val210=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2503803	NM_018129.4(PNPO):c.563dup (p.Asn188fs)	PNPO (N188fs)	Duplication (frameshift variant)	Pyridoxal phosphate-responsive seizures	GLikely pathogenic
Select item 2426450	NC_000017.10:g.(?_46019042)_(46024148_?)dup	PNPO	Duplication	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2426449	NC_000017.10:g.(?_46019042)_(46024148_?)del	PNPO	Deletion	Pyridoxal phosphate-responsive seizures	GPathogenic
Select item 2420000	NM_018129.4(PNPO):c.130G>C (p.Asp44His)	PNPO (D44H)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2199327	NM_018129.4(PNPO):c.746G>A (p.Arg249His)	PNPO (R249H)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2195562	NM_018129.4(PNPO):c.618-19C>T	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2170476	NM_018129.4(PNPO):c.652T>C (p.Phe218Leu)	PNPO (F218L)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2169549	NM_018129.4(PNPO):c.138+8C>T	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2166298	NM_018129.4(PNPO):c.264-3T>C	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2138063	NM_018129.4(PNPO):c.421C>T (p.Arg141Cys)	PNPO (R141C)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GPathogenic
Select item 2128382	NM_018129.4(PNPO):c.422_433del (p.Arg141_Gly144del)	PNPO	Deletion (inframe_deletion)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2127799	NM_018129.4(PNPO):c.263+10G>A	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2126791	NM_018129.4(PNPO):c.509T>C (p.Val170Ala)	PNPO (V170A)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2113985	NM_018129.4(PNPO):c.354A>G (p.Gly118=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2106141	NM_018129.4(PNPO):c.692T>A (p.Val231Asp)	PNPO (V231D)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2100337	NM_018129.4(PNPO):c.394T>C (p.Tyr132His)	PNPO (Y132H)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2084841	NM_018129.4(PNPO):c.83G>T (p.Arg28Leu)	PNPO (R28L)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2080223	NM_018129.4(PNPO):c.301G>A (p.Gly101Ser)	PNPO (G101S)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2053535	NM_018129.4(PNPO):c.154C>T (p.His52Tyr)	PNPO (H52Y)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2049702	NM_018129.4(PNPO):c.304T>G (p.Phe102Val)	PNPO (F102V)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2034679	NM_018129.4(PNPO):c.222C>T (p.Asp74=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2032449	NM_018129.4(PNPO):c.417+7del	PNPO	Deletion (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 2009376	NM_018129.4(PNPO):c.242T>A (p.Met81Lys)	PNPO (M81K)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2008584	NM_018129.4(PNPO):c.659A>G (p.Gln220Arg)	PNPO (Q220R)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 2003371	NM_018129.4(PNPO):c.244T>C (p.Cys82Arg)	PNPO (C82R)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1998215	NM_018129.4(PNPO):c.162C>G (p.Thr54=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 1985714	NM_018129.4(PNPO):c.114C>T (p.Arg38=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1975596	NM_018129.4(PNPO):c.498G>A (p.Gln166=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 1966838	NM_018129.4(PNPO):c.546+10G>A	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 1934293	NM_018129.4(PNPO):c.628G>C (p.Val210Leu)	PNPO (V210L)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1912839	NM_018129.4(PNPO):c.439A>G (p.Lys147Glu)	PNPO (K147E)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1895860	NM_018129.4(PNPO):c.39G>T (p.Gly13=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 1704285	NM_018129.3(PNPO):c.620delG	PNPO	Deletion	Pyridoxal phosphate-responsive seizures	GPathogenic

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