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

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 385394	NM_018129.4(PNPO):c.-38G>C	PNPO	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 206436	NM_018129.4(PNPO):c.-28A>G	PNPO	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 516486	NM_018129.4(PNPO):c.-24G>A	PNPO	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 515140	NM_018129.4(PNPO):c.-17G>A	PNPO	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 206438	NM_018129.4(PNPO):c.-1dup (p.Met1fs)	PNPO (M1fs)	Duplication (frameshift variant)	not specified	GLikely benign
Select item 206437	NM_018129.4(PNPO):c.-6C>A	PNPO	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 206456	NM_018129.4(PNPO):c.2T>C (p.Met1Thr)	PNPO (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 392472	NM_018129.4(PNPO):c.3G>T (p.Met1Ile)	PNPO (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 206439	NM_018129.4(PNPO):c.12G>T (p.Trp4Cys)	PNPO (W4C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 546398	NM_018129.4(PNPO):c.20G>A (p.Gly7Asp)	PNPO (G7D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 681686	NM_018129.4(PNPO):c.73C>T (p.Leu25=)	PNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1305230	NM_018129.4(PNPO):c.83G>A (p.Arg28His)	PNPO (R28H)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +1 more	GUncertain significance
Select item 206457	NM_018129.4(PNPO):c.89C>T (p.Ala30Val)	PNPO (A30V)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +1 more	GUncertain significance
Select item 206458	NM_018129.4(PNPO):c.98A>T (p.Asp33Val)	PNPO (D33V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1302980	NM_018129.4(PNPO):c.104G>A (p.Gly35Glu)	PNPO (G35E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516487	NM_018129.4(PNPO):c.132C>T (p.Asp44=)	PNPO	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 388910	NM_018129.4(PNPO):c.138+13G>A	PNPO	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 667952	NM_018129.4(PNPO):c.138+143C>T	PNPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669958	NM_018129.4(PNPO):c.139-310G>A	PNPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378403	NM_018129.4(PNPO):c.147G>A (p.Glu49=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures +1 more	GLikely benign
Select item 206440	NM_018129.4(PNPO):c.148G>A (p.Glu50Lys)	PNPO (E50K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 546571	NM_018129.4(PNPO):c.155A>C (p.His52Pro)	PNPO (H52P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 129980	NM_018129.4(PNPO):c.165C>T (p.Ser55=)	PNPO	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 206441	NM_018129.4(PNPO):c.167T>G (p.Leu56Arg)	PNPO (L56R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 426847	NM_018129.4(PNPO):c.251C>G (p.Ala84Gly)	PNPO (A84G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 670492	NM_018129.4(PNPO):c.264-129C>T	PNPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 206435	NM_018129.4(PNPO):c.306C>T (p.Phe102=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures +2 more	GBenign/Likely benign
Select item 206443	NM_018129.4(PNPO):c.307G>A (p.Gly103Arg)	PNPO (G103R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 429963	NM_018129.4(PNPO):c.322C>T (p.Arg108Cys)	PNPO (R108C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206444	NM_018129.4(PNPO):c.340G>A (p.Glu114Lys)	PNPO (E114K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 129981	NM_018129.4(PNPO):c.347G>A (p.Arg116Gln)	PNPO (R116Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 206445	NM_018129.4(PNPO):c.363+6T>C	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures +1 more	GUncertain significance
Select item 667950	NM_018129.4(PNPO):c.363+249G>A	PNPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677550	NM_018129.4(PNPO):c.364-139T>C	PNPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670594	NM_018129.4(PNPO):c.364-36C>T	PNPO	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 512326	NM_018129.4(PNPO):c.393C>T (p.Phe131=)	PNPO	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 391570	NM_018129.4(PNPO):c.399G>A (p.Trp133Ter)	PNPO (W133*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 836375	NM_018129.4(PNPO):c.413G>A (p.Arg138His)	PNPO (R138H)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +1 more	GConflicting classifications of pathogenicity
Select item 670919	NM_018129.4(PNPO):c.418-67G>A	PNPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269558	NM_018129.4(PNPO):c.418-64G>A	PNPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 859934	NM_018129.4(PNPO):c.431G>C (p.Gly144Ala)	PNPO (G144A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 378404	NM_018129.4(PNPO):c.433C>T (p.Pro145Ser)	PNPO (P145S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 206460	NM_018129.4(PNPO):c.448_451del (p.Pro150fs)	PNPO (P150fs)	Deletion (frameshift variant)	Pyridoxal phosphate-responsive seizures +1 more	GPathogenic
Select item 206442	NM_018129.4(PNPO):c.471C>A (p.Tyr157Ter)	PNPO (Y157*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 206446	NM_018129.4(PNPO):c.481C>T (p.Arg161Cys)	PNPO (R161C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 129982	NM_018129.4(PNPO):c.486C>G (p.Pro162=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures +3 more	GBenign
Select item 1315128	NM_018129.4(PNPO):c.488A>G (p.Lys163Arg)	PNPO (K163R)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +2 more	GUncertain significance
Select item 206447	NM_018129.4(PNPO):c.493A>G (p.Ser165Gly)	PNPO (S165G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138731	NM_018129.4(PNPO):c.500T>C (p.Ile167Thr)	PNPO (I167T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 430237	NM_018129.4(PNPO):c.539_541dup (p.Asp180_Arg181insHis)	PNPO	Duplication (inframe_insertion)	Pyridoxal phosphate-responsive seizures +1 more	GUncertain significance
Select item 468362	NM_018129.4(PNPO):c.540T>C (p.Asp180=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures +1 more	GLikely benign
Select item 206448	NM_018129.4(PNPO):c.542G>A (p.Arg181Gln)	PNPO (R181Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 206459	NM_018129.4(PNPO):c.544G>A (p.Glu182Lys)	PNPO (E182K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 508013	NM_018129.4(PNPO):c.546+14C>T	PNPO	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 138732	NM_018129.4(PNPO):c.546+15G>A	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures +2 more	GBenign
Select item 672757	NM_018129.4(PNPO):c.546+155G>T	PNPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390128	NM_018129.4(PNPO):c.547-17C>G	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures +1 more	GConflicting classifications of pathogenicity
Select item 129983	NM_018129.4(PNPO):c.552G>A (p.Leu184=)	PNPO	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2328677	NM_018129.4(PNPO):c.565G>C (p.Glu189Gln)	PNPO (E189Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1308500	NM_018129.4(PNPO):c.586C>G (p.Gln196Glu)	PNPO (Q196E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432824	NM_018129.4(PNPO):c.598G>A (p.Val200Met)	PNPO (V200M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276659	NM_018129.4(PNPO):c.618-26A>G	PNPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190895	NM_018129.4(PNPO):c.618-4A>G	PNPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 593357	NM_018129.4(PNPO):c.628G>T (p.Val210Phe)	PNPO (V210F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 658245	NM_018129.4(PNPO):c.657G>A (p.Trp219Ter)	PNPO (W219*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 206450	NM_018129.4(PNPO):c.673C>T (p.Arg225Cys)	PNPO (R225C)	Single nucleotide variant (missense variant)	PNPO-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 223153	NM_018129.4(PNPO):c.674G>A (p.Arg225His)	PNPO (R225H)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +2 more	GPathogenic
Select item 206451	NM_018129.4(PNPO):c.674G>T (p.Arg225Leu)	PNPO (R225L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 507659	NM_018129.4(PNPO):c.684C>T (p.Asp228=)	PNPO	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 6523	NM_018129.4(PNPO):c.685C>T (p.Arg229Trp)	PNPO (R229W)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +1 more	GPathogenic/Likely pathogenic
Select item 206452	NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)	PNPO (R229Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 589871	NM_018129.4(PNPO):c.697C>T (p.Arg233Trp)	PNPO (R233W)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +2 more	GUncertain significance
Select item 206453	NM_018129.4(PNPO):c.698G>A (p.Arg233Gln)	PNPO (R233Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 206454	NM_018129.4(PNPO):c.700C>T (p.Arg234Trp)	PNPO (R234W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1304657	NM_018129.4(PNPO):c.712A>G (p.Thr238Ala)	PNPO (T238A)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +1 more	GUncertain significance
Select item 138733	NM_018129.4(PNPO):c.723C>G (p.Ser241=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures +2 more	GConflicting classifications of pathogenicity
Select item 386165	NM_018129.4(PNPO):c.727T>C (p.Leu243=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures +2 more	GLikely benign
Select item 952731	NM_018129.4(PNPO):c.734C>T (p.Pro245Leu)	PNPO (P245L)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +1 more	GUncertain significance
Select item 1155301	NM_018129.4(PNPO):c.747C>T (p.Arg249=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures +1 more	GBenign/Likely benign
Select item 378405	NM_018129.4(PNPO):c.777T>C (p.Leu259=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures +3 more	GBenign/Likely benign
Select item 206455	NM_018129.4(PNPO):c.782C>T (p.Pro261Leu)	PNPO (P261L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1195479	NM_018129.4(PNPO):c.*293G>C	PNPO	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign

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Items: 82