ClinVar for MedGen (Select 350498) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25038031.	NM_018129.4(PNPO):c.563dup (p.Asn188fs) GRCh37: Chr17:46023700-46023701 GRCh38: Chr17:47946334-47946335	PNPO	N188fs	Pyridoxal phosphate-responsive seizures	Likely pathogenic (Apr 17, 2023)	criteria provided, single submitter
Select item 24264502.	NC_000017.10:g.(?_46019042)_(46024148_?)dup GRCh37: Chr17:46019042-46024148	PNPO		Pyridoxal phosphate-responsive seizures	Uncertain significance (Nov 22, 2021)	criteria provided, single submitter
Select item 24264493.	NC_000017.10:g.(?_46019042)_(46024148_?)del GRCh37: Chr17:46019042-46024148	PNPO		Pyridoxal phosphate-responsive seizures	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 24200004.	NM_018129.4(PNPO):c.130G>C (p.Asp44His) GRCh37: Chr17:46019171 GRCh38: Chr17:47941805	PNPO	D44H	Pyridoxal phosphate-responsive seizures	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 21993275.	NM_018129.4(PNPO):c.746G>A (p.Arg249His) GRCh37: Chr17:46024108 GRCh38: Chr17:47946742	PNPO	R249H	Pyridoxal phosphate-responsive seizures	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 21955626.	NM_018129.4(PNPO):c.618-19C>T GRCh37: Chr17:46023961 GRCh38: Chr17:47946595	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 21704767.	NM_018129.4(PNPO):c.652T>C (p.Phe218Leu) GRCh37: Chr17:46024014 GRCh38: Chr17:47946648	PNPO	F218L	Pyridoxal phosphate-responsive seizures	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 21695498.	NM_018129.4(PNPO):c.138+8C>T GRCh37: Chr17:46019187 GRCh38: Chr17:47941821	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 21662989.	NM_018129.4(PNPO):c.264-3T>C GRCh37: Chr17:46021979 GRCh38: Chr17:47944613	PNPO		Pyridoxal phosphate-responsive seizures	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 213806310.	NM_018129.4(PNPO):c.421C>T (p.Arg141Cys) GRCh37: Chr17:46023230 GRCh38: Chr17:47945864	PNPO	R141C	Pyridoxal phosphate-responsive seizures	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 212838211.	NM_018129.4(PNPO):c.422_433del (p.Arg141_Gly144del) GRCh37: Chr17:46023230-46023241 GRCh38: Chr17:47945864-47945875	PNPO		Pyridoxal phosphate-responsive seizures	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 212779912.	NM_018129.4(PNPO):c.263+10G>A GRCh37: Chr17:46020806 GRCh38: Chr17:47943440	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 212679113.	NM_018129.4(PNPO):c.509T>C (p.Val170Ala) GRCh37: Chr17:46023318 GRCh38: Chr17:47945952	PNPO	V170A	Pyridoxal phosphate-responsive seizures	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 211398514.	NM_018129.4(PNPO):c.354A>G (p.Gly118=) GRCh37: Chr17:46022072 GRCh38: Chr17:47944706	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 210614115.	NM_018129.4(PNPO):c.692T>A (p.Val231Asp) GRCh37: Chr17:46024054 GRCh38: Chr17:47946688	PNPO	V231D	Pyridoxal phosphate-responsive seizures	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 210033716.	NM_018129.4(PNPO):c.394T>C (p.Tyr132His) GRCh37: Chr17:46022955 GRCh38: Chr17:47945589	PNPO	Y132H	Pyridoxal phosphate-responsive seizures	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 208484117.	NM_018129.4(PNPO):c.83G>T (p.Arg28Leu) GRCh37: Chr17:46019124 GRCh38: Chr17:47941758	PNPO	R28L	Pyridoxal phosphate-responsive seizures	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 208022318.	NM_018129.4(PNPO):c.301G>A (p.Gly101Ser) GRCh37: Chr17:46022019 GRCh38: Chr17:47944653	PNPO	G101S	Pyridoxal phosphate-responsive seizures	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 205353519.	NM_018129.4(PNPO):c.154C>T (p.His52Tyr) GRCh37: Chr17:46020687 GRCh38: Chr17:47943321	PNPO	H52Y	Pyridoxal phosphate-responsive seizures	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 204970220.	NM_018129.4(PNPO):c.304T>G (p.Phe102Val) GRCh37: Chr17:46022022 GRCh38: Chr17:47944656	PNPO	F102V	Pyridoxal phosphate-responsive seizures	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 203467921.	NM_018129.4(PNPO):c.222C>T (p.Asp74=) GRCh37: Chr17:46020755 GRCh38: Chr17:47943389	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 203244922.	NM_018129.4(PNPO):c.417+7del GRCh37: Chr17:46022985 GRCh38: Chr17:47945619	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 200937623.	NM_018129.4(PNPO):c.242T>A (p.Met81Lys) GRCh37: Chr17:46020775 GRCh38: Chr17:47943409	PNPO	M81K	Pyridoxal phosphate-responsive seizures	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 200858424.	NM_018129.4(PNPO):c.659A>G (p.Gln220Arg) GRCh37: Chr17:46024021 GRCh38: Chr17:47946655	PNPO	Q220R	Pyridoxal phosphate-responsive seizures	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 200337125.	NM_018129.4(PNPO):c.244T>C (p.Cys82Arg) GRCh37: Chr17:46020777 GRCh38: Chr17:47943411	PNPO	C82R	Pyridoxal phosphate-responsive seizures	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 199821526.	NM_018129.4(PNPO):c.162C>G (p.Thr54=) GRCh37: Chr17:46020695 GRCh38: Chr17:47943329	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 198571427.	NM_018129.4(PNPO):c.114C>T (p.Arg38=) GRCh37: Chr17:46019155 GRCh38: Chr17:47941789	PNPO		Pyridoxal phosphate-responsive seizures	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 197559628.	NM_018129.4(PNPO):c.498G>A (p.Gln166=) GRCh37: Chr17:46023307 GRCh38: Chr17:47945941	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 196683829.	NM_018129.4(PNPO):c.546+10G>A GRCh37: Chr17:46023365 GRCh38: Chr17:47945999	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 193429330.	NM_018129.4(PNPO):c.628G>C (p.Val210Leu) GRCh37: Chr17:46023990 GRCh38: Chr17:47946624	PNPO	V210L	Pyridoxal phosphate-responsive seizures	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 191283931.	NM_018129.4(PNPO):c.439A>G (p.Lys147Glu) GRCh37: Chr17:46023248 GRCh38: Chr17:47945882	PNPO	K147E	Pyridoxal phosphate-responsive seizures	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 189586032.	NM_018129.4(PNPO):c.39G>T (p.Gly13=) GRCh37: Chr17:46019080 GRCh38: Chr17:47941714	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 170428533.	NM_018129.3(PNPO):c.620delG GRCh37: Chr17:46023979 GRCh38: Chr17:47946613	PNPO		Pyridoxal phosphate-responsive seizures	Pathogenic (Sep 8, 2002)	no assertion criteria provided
Select item 170428334.	NM_018129.4(PNPO):c.546+1G>A GRCh37: Chr17:46023356 GRCh38: Chr17:47945990	PNPO		Pyridoxal phosphate-responsive seizures	Pathogenic (Sep 8, 2002)	no assertion criteria provided
Select item 169664235.	NM_018129.4(PNPO):c.418-1G>C GRCh37: Chr17:46023226 GRCh38: Chr17:47945860	PNPO		Pyridoxal phosphate-responsive seizures	Likely pathogenic (Aug 6, 2021)	criteria provided, single submitter
Select item 166642336.	NM_018129.4(PNPO):c.417+18G>T GRCh37: Chr17:46022996 GRCh38: Chr17:47945630	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 165463237.	NM_018129.4(PNPO):c.139-7T>C GRCh37: Chr17:46020665 GRCh38: Chr17:47943299	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 165125638.	NM_018129.4(PNPO):c.363+19_363+32del GRCh37: Chr17:46022099-46022112 GRCh38: Chr17:47944733-47944746	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Nov 11, 2021)	criteria provided, single submitter
Select item 164644439.	NM_018129.4(PNPO):c.264-19C>G GRCh37: Chr17:46021963 GRCh38: Chr17:47944597	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 163726940.	NM_018129.4(PNPO):c.636C>T (p.Tyr212=) GRCh37: Chr17:46023998 GRCh38: Chr17:47946632	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 161247941.	NM_018129.4(PNPO):c.450T>C (p.Pro150=) GRCh37: Chr17:46023259 GRCh38: Chr17:47945893	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 161196242.	NM_018129.4(PNPO):c.339C>T (p.Phe113=) GRCh37: Chr17:46022057 GRCh38: Chr17:47944691	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 159792743.	NM_018129.4(PNPO):c.547-10C>T GRCh37: Chr17:46023679 GRCh38: Chr17:47946313	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Jan 6, 2021)	criteria provided, single submitter
Select item 158464144.	NM_018129.4(PNPO):c.417+17A>T GRCh37: Chr17:46022995 GRCh38: Chr17:47945629	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 158305045.	NM_018129.4(PNPO):c.504G>A (p.Gly168=) GRCh37: Chr17:46023313 GRCh38: Chr17:47945947	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Nov 7, 2021)	criteria provided, single submitter
Select item 157854246.	NM_018129.4(PNPO):c.333T>C (p.Thr111=) GRCh37: Chr17:46022051 GRCh38: Chr17:47944685	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 157705347.	NM_018129.4(PNPO):c.510G>A (p.Val170=) GRCh37: Chr17:46023319 GRCh38: Chr17:47945953	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 156756148.	NM_018129.4(PNPO):c.138+8C>A GRCh37: Chr17:46019187 GRCh38: Chr17:47941821	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Jun 20, 2021)	criteria provided, single submitter
Select item 153303649.	NM_018129.4(PNPO):c.363+20A>G GRCh37: Chr17:46022101 GRCh38: Chr17:47944735	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 151599950.	NM_018129.4(PNPO):c.356A>G (p.Lys119Arg) GRCh37: Chr17:46022074 GRCh38: Chr17:47944708	PNPO	K119R	Pyridoxal phosphate-responsive seizures	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 151033351.	NM_018129.4(PNPO):c.605A>G (p.Lys202Arg) GRCh37: Chr17:46023747 GRCh38: Chr17:47946381	PNPO	K202R	Pyridoxal phosphate-responsive seizures	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 150862852.	NM_018129.4(PNPO):c.236A>G (p.Asn79Ser) GRCh37: Chr17:46020769 GRCh38: Chr17:47943403	PNPO	N79S	Pyridoxal phosphate-responsive seizures	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 150747253.	NM_018129.4(PNPO):c.310A>G (p.Lys104Glu) GRCh37: Chr17:46022028 GRCh38: Chr17:47944662	PNPO	K104E	Pyridoxal phosphate-responsive seizures	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 150216854.	NM_018129.4(PNPO):c.617+18G>A GRCh37: Chr17:46023777 GRCh38: Chr17:47946411	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 149986355.	NM_018129.4(PNPO):c.263+3G>A GRCh37: Chr17:46020799 GRCh38: Chr17:47943433	PNPO		Pyridoxal phosphate-responsive seizures	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter
Select item 149962756.	NM_018129.4(PNPO):c.583T>C (p.Tyr195His) GRCh37: Chr17:46023725 GRCh38: Chr17:47946359	PNPO	Y195H	Pyridoxal phosphate-responsive seizures	Uncertain significance (Nov 9, 2021)	criteria provided, single submitter
Select item 149913257.	NM_018129.4(PNPO):c.127G>C (p.Gly43Arg) GRCh37: Chr17:46019168 GRCh38: Chr17:47941802	PNPO	G43R	Pyridoxal phosphate-responsive seizures	Uncertain significance (Oct 24, 2021)	criteria provided, single submitter
Select item 147633058.	NM_018129.4(PNPO):c.263+6C>T GRCh37: Chr17:46020802 GRCh38: Chr17:47943436	PNPO		Pyridoxal phosphate-responsive seizures	Uncertain significance (Dec 23, 2020)	criteria provided, single submitter
Select item 147291659.	NM_018129.4(PNPO):c.751del (p.Glu251fs) GRCh37: Chr17:46024110 GRCh38: Chr17:47946744	PNPO	E251fs	Pyridoxal phosphate-responsive seizures	Uncertain significance (Jul 18, 2021)	criteria provided, single submitter
Select item 146752360.	NM_018129.4(PNPO):c.547-2A>T GRCh37: Chr17:46023687 GRCh38: Chr17:47946321	PNPO		Pyridoxal phosphate-responsive seizures	Likely pathogenic (Jul 17, 2021)	criteria provided, single submitter
Select item 146646461.	NM_018129.4(PNPO):c.400G>C (p.Glu134Gln) GRCh37: Chr17:46022961 GRCh38: Chr17:47945595	PNPO	E134Q	Pyridoxal phosphate-responsive seizures	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 146299162.	NM_018129.4(PNPO):c.417+6T>C GRCh37: Chr17:46022984 GRCh38: Chr17:47945618	PNPO		Pyridoxal phosphate-responsive seizures	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 146077963.	NM_018129.4(PNPO):c.431G>A (p.Gly144Asp) GRCh37: Chr17:46023240 GRCh38: Chr17:47945874	PNPO	G144D	Pyridoxal phosphate-responsive seizures	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 145265964.	NM_018129.4(PNPO):c.346C>T (p.Arg116Ter) GRCh37: Chr17:46022064 GRCh38: Chr17:47944698	PNPO	R116*	Pyridoxal phosphate-responsive seizures	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 143888065.	NM_018129.4(PNPO):c.112C>A (p.Arg38Ser) GRCh37: Chr17:46019153 GRCh38: Chr17:47941787	PNPO	R38S	Pyridoxal phosphate-responsive seizures	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 141922466.	NM_018129.4(PNPO):c.667A>G (p.Thr223Ala) GRCh37: Chr17:46024029 GRCh38: Chr17:47946663	PNPO	T223A	Pyridoxal phosphate-responsive seizures	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 141485767.	NM_018129.4(PNPO):c.124C>T (p.Arg42Cys) GRCh37: Chr17:46019165 GRCh38: Chr17:47941799	PNPO	R42C	Pyridoxal phosphate-responsive seizures	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 141229268.	NM_018129.4(PNPO):c.263+1G>C GRCh37: Chr17:46020797 GRCh38: Chr17:47943431	PNPO		Pyridoxal phosphate-responsive seizures	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 140786669.	NM_018129.4(PNPO):c.205G>A (p.Ala69Thr) GRCh37: Chr17:46020738 GRCh38: Chr17:47943372	PNPO	A69T	Pyridoxal phosphate-responsive seizures	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 140660870.	NM_018129.4(PNPO):c.22G>A (p.Val8Ile) GRCh37: Chr17:46019063 GRCh38: Chr17:47941697	PNPO	V8I	Pyridoxal phosphate-responsive seizures	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 140290471.	NM_018129.4(PNPO):c.485C>T (p.Pro162Leu) GRCh37: Chr17:46023294 GRCh38: Chr17:47945928	PNPO	P162L	Pyridoxal phosphate-responsive seizures	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 139903072.	NM_018129.4(PNPO):c.263G>T (p.Arg88Ile) GRCh37: Chr17:46020796 GRCh38: Chr17:47943430	PNPO	R88I	Pyridoxal phosphate-responsive seizures	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 139621073.	NM_018129.4(PNPO):c.718G>T (p.Asp240Tyr) GRCh37: Chr17:46024080 GRCh38: Chr17:47946714	PNPO	D240Y	Pyridoxal phosphate-responsive seizures	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 139557774.	NM_018129.4(PNPO):c.16C>T (p.Arg6Trp) GRCh37: Chr17:46019057 GRCh38: Chr17:47941691	PNPO	R6W	Pyridoxal phosphate-responsive seizures	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 139241775.	NM_018129.4(PNPO):c.701G>A (p.Arg234Gln) GRCh37: Chr17:46024063 GRCh38: Chr17:47946697	PNPO	R234Q	Pyridoxal phosphate-responsive seizures, Inborn genetic diseases	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138626876.	NM_018129.4(PNPO):c.160A>T (p.Thr54Ser) GRCh37: Chr17:46020693 GRCh38: Chr17:47943327	PNPO	T54S	Pyridoxal phosphate-responsive seizures	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 138079177.	NM_018129.4(PNPO):c.745C>T (p.Arg249Cys) GRCh37: Chr17:46024107 GRCh38: Chr17:47946741	PNPO	R249C	Pyridoxal phosphate-responsive seizures	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 136148478.	NM_018129.4(PNPO):c.134G>A (p.Arg45Gln) GRCh37: Chr17:46019175 GRCh38: Chr17:47941809	PNPO	R45Q	Pyridoxal phosphate-responsive seizures	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 135842779.	NM_018129.4(PNPO):c.506C>T (p.Ala169Val) GRCh37: Chr17:46023315 GRCh38: Chr17:47945949	PNPO	A169V	Pyridoxal phosphate-responsive seizures	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 132348080.	NM_018129.4(PNPO):c.178A>T (p.Lys60Ter) GRCh37: Chr17:46020711 GRCh38: Chr17:47943345	PNPO	K60*	Pyridoxal phosphate-responsive seizures	Pathogenic (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131512881.	NM_018129.4(PNPO):c.488A>G (p.Lys163Arg) GRCh37: Chr17:46023297 GRCh38: Chr17:47945931	PNPO	K163R	Inborn genetic diseases, Pyridoxal phosphate-responsive seizures, not provided	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130523082.	NM_018129.4(PNPO):c.83G>A (p.Arg28His) GRCh37: Chr17:46019124 GRCh38: Chr17:47941758	PNPO	R28H	Pyridoxal phosphate-responsive seizures, not provided	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130465783.	NM_018129.4(PNPO):c.712A>G (p.Thr238Ala) GRCh37: Chr17:46024074 GRCh38: Chr17:47946708	PNPO	T238A	not provided, Pyridoxal phosphate-responsive seizures	Uncertain significance (Apr 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129701984.	NM_018129.4(PNPO):c.283C>T (p.Arg95Cys) GRCh37: Chr17:46022001 GRCh38: Chr17:47944635	PNPO	R95C	Pyridoxal phosphate-responsive seizures	Pathogenic/Likely pathogenic (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115530185.	NM_018129.4(PNPO):c.747C>T (p.Arg249=) GRCh37: Chr17:46024109 GRCh38: Chr17:47946743	PNPO		Pyridoxal phosphate-responsive seizures, not provided	Benign/Likely benign (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115437986.	NM_018129.4(PNPO):c.402G>A (p.Glu134=) GRCh37: Chr17:46022963 GRCh38: Chr17:47945597	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 115389387.	NM_018129.4(PNPO):c.420G>T (p.Val140=) GRCh37: Chr17:46023229 GRCh38: Chr17:47945863	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 115199588.	NM_018129.4(PNPO):c.342G>A (p.Glu114=) GRCh37: Chr17:46022060 GRCh38: Chr17:47944694	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 114735889.	NM_018129.4(PNPO):c.534C>T (p.Ile178=) GRCh37: Chr17:46023343 GRCh38: Chr17:47945977	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Oct 18, 2019)	criteria provided, single submitter
Select item 114466590.	NM_018129.4(PNPO):c.282T>C (p.Ala94=) GRCh37: Chr17:46022000 GRCh38: Chr17:47944634	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Oct 23, 2020)	criteria provided, single submitter
Select item 113828891.	NM_018129.4(PNPO):c.438G>A (p.Val146=) GRCh37: Chr17:46023247 GRCh38: Chr17:47945881	PNPO		Inborn genetic diseases, Pyridoxal phosphate-responsive seizures	Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113740892.	NM_018129.4(PNPO):c.693C>A (p.Val231=) GRCh37: Chr17:46024055 GRCh38: Chr17:47946689	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 112328693.	NM_018129.4(PNPO):c.507T>C (p.Ala169=) GRCh37: Chr17:46023316 GRCh38: Chr17:47945950	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 112090594.	NM_018129.4(PNPO):c.453G>A (p.Glu151=) GRCh37: Chr17:46023262 GRCh38: Chr17:47945896	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Jun 29, 2020)	criteria provided, single submitter
Select item 111234895.	NM_018129.4(PNPO):c.618-10C>G GRCh37: Chr17:46023970 GRCh38: Chr17:47946604	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Jan 15, 2020)	criteria provided, single submitter
Select item 110733896.	NM_018129.4(PNPO):c.156T>C (p.His52=) GRCh37: Chr17:46020689 GRCh38: Chr17:47943323	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 110282097.	NM_018129.4(PNPO):c.297G>A (p.Leu99=) GRCh37: Chr17:46022015 GRCh38: Chr17:47944649	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Dec 24, 2019)	criteria provided, single submitter
Select item 110024598.	NM_018129.4(PNPO):c.267T>C (p.Asp89=) GRCh37: Chr17:46021985 GRCh38: Chr17:47944619	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 109732399.	NM_018129.4(PNPO):c.418-9C>T GRCh37: Chr17:46023218 GRCh38: Chr17:47945852	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 1094246100.	NM_018129.4(PNPO):c.66C>T (p.Leu22=) GRCh37: Chr17:46019107 GRCh38: Chr17:47941741	PNPO		Pyridoxal phosphate-responsive seizures	Likely benign (Mar 11, 2022)	criteria provided, single submitter

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