2-Nor-2-formylpyridoxal-5'-phosphate - ClinVar - NCBI

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The following term was not found in ClinVar: formylpyridoxal.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1677009	NM_001244710.2(GFPT1):c.2055+1G>T	GFPT1	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 1704522	NM_001244710.2(GFPT1):c.739+1G>A	GFPT1	Single nucleotide variant (intron variant +1 more)	Congenital myasthenic syndrome	GLikely pathogenic
Select item 1073758	NM_001244710.2(GFPT1):c.686dup (p.Ala229_Arg230insTer)	GFPT1	Duplication (frameshift variant +1 more)	Congenital myasthenic syndrome 12	GPathogenic
Select item 1696230	NM_003659.4(AGPS):c.1697+2T>C	AGPS	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 203647	NM_001875.5(CPS1):c.-4_-3insTTC	CPS1	Insertion (5 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 2014984	NM_001875.5(CPS1):c.1549+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I	GLikely pathogenic
Select item 496145	NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs)	CPS1 (Y962fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 552974	NM_001875.5(CPS1):c.4101+2T>C	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 1070018	NC_000002.11:g.(?_211441050)_(211542729_?)del	CPS1	Deletion	Congenital hyperammonemia, type I	GPathogenic
Select item 1070017	NC_000002.11:g.(?_211421433)_(211421593_?)del	CPS1	Deletion	Congenital hyperammonemia, type I	GPathogenic
Select item 831285	NC_000002.12:g.(?_210658579)_(210678005_?)del	CPS1	Deletion	Congenital hyperammonemia, type I	GUncertain significance
Select item 242644	NM_000155.2(GALT):c.[-1039_753del;820+50_*789delinsGAATAGACCCCA]	GALT, LOC130001682 +1 more	Deletion	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 25111	NM_000155.4(GALT):c.-119_-116delGTCA	GALT	Microsatellite	not specified +3 more	GConflicting classifications of pathogenicity; other
Select item 25316	NM_000155.4(GALT):c.1014C>G (p.Gly338=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 371023	NM_000035.4(ALDOB):c.379+1G>A	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 500745	NM_000035.4(ALDOB):c.-214G>A	ALDOB	Single nucleotide variant	Hereditary fructosuria +1 more	GConflicting classifications of pathogenicity
Select item 3317940	NM_003901.4(SGPL1):c.146G>A (p.Trp49Ter)	SGPL1 (W49*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 1301338	NM_001164277.2(SLC37A4):c.1124+3_1124+6del	SLC37A4	Deletion (splice donor variant)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
Select item 633416	NM_001164277.2(SLC37A4):c.1124+2dup	SLC37A4	Duplication (splice donor variant)	not specified +1 more	GUncertain significance
Select item 551747	NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg)	SLC37A4 (G209R +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +1 more	GUncertain significance
Select item 633418	NM_001164277.2(SLC37A4):c.381+2T>G	SLC37A4	Single nucleotide variant (splice donor variant)	Glucose-6-phosphate transport defect +1 more	GPathogenic/Likely pathogenic
Select item 1704519	NM_001164277.2(SLC37A4):c.148+2T>A	SLC37A4	Single nucleotide variant (intron variant +1 more)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 2678969	NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)	SLC37A4 (G50R)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 1075924	NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs)	CEP290, RLIG1 (Y2429fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 14 +4 more	GPathogenic/Likely pathogenic
Select item 2772	NM_024312.5(GNPTAB):c.3335+1G>A	GNPTAB	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 2768	NM_024312.5(GNPTAB):c.2715+1G>A	GNPTAB	Single nucleotide variant (splice donor variant)	Mucolipidosis +3 more	GPathogenic
Select item 2761	NM_024312.5(GNPTAB):c.771G>A (p.Leu257=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +2 more	GLikely pathogenic
Select item 1708559	NM_024312.5(GNPTAB):c.202C>T (p.Arg68Trp)	GNPTAB (R68W)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GConflicting classifications of pathogenicity
Select item 584048	NC_000012.11:g.(?_102224317)_(102224473_?)dup	GNPTAB	Duplication	Mucolipidosis type II +1 more	GUncertain significance
Select item 1460422	NC_000012.11:g.(?_102173920)_(102224463_?)del	GNPTAB	Deletion	Mucolipidosis type II +1 more	GPathogenic
Select item 1412384	NC_000012.11:g.(?_102224327)_(102224463_?)dup	GNPTAB	Duplication	Mucolipidosis type II +1 more	GUncertain significance
Select item 1066538	NC_000012.11:g.(?_102140932)_(102155551_?)del	GNPTAB	Deletion	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 831427	NC_000012.12:g.(?_101747144)_(101796782_?)del	GNPTAB	Deletion	Mucolipidosis type II +1 more	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	ANTKMT, BAIAP3 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 323909	NM_018129.4(PNPO):c.-18C>T	PNPO	Single nucleotide variant (5 prime UTR variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 854911	NM_018129.4(PNPO):c.4A>G (p.Thr2Ala)	PNPO (T2A)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 642446	NM_018129.4(PNPO):c.11G>C (p.Trp4Ser)	PNPO (W4S)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
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 1395577	NM_018129.4(PNPO):c.16C>T (p.Arg6Trp)	PNPO (R6W)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 588336	NM_018129.4(PNPO):c.16C>A (p.Arg6=)	PNPO	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1175915	NM_018129.4(PNPO):c.18G>A (p.Arg6=)	PNPO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1406608	NM_018129.4(PNPO):c.22G>A (p.Val8Ile)	PNPO (V8I)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 536261	NM_018129.4(PNPO):c.28G>C (p.Ala10Pro)	PNPO (A10P)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 502681	NM_018129.4(PNPO):c.37G>T (p.Gly13Trp)	PNPO (G13W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 860000	NM_018129.4(PNPO):c.59G>T (p.Gly20Val)	PNPO (G20V)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 837538	NM_018129.4(PNPO):c.62A>T (p.Tyr21Phe)	PNPO (Y21F)	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 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 409831	NM_018129.4(PNPO):c.91G>C (p.Ala31Pro)	PNPO (A31P)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	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 939393	NM_018129.4(PNPO):c.106C>T (p.Pro36Ser)	PNPO (P36S)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1022380	NM_018129.4(PNPO):c.110T>C (p.Met37Thr)	PNPO (M37T)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1438880	NM_018129.4(PNPO):c.112C>A (p.Arg38Ser)	PNPO (R38S)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 211924	NM_018129.4(PNPO):c.119G>A (p.Ser40Asn)	PNPO (S40N)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +1 more	GUncertain significance
Select item 1414857	NM_018129.4(PNPO):c.124C>T (p.Arg42Cys)	PNPO (R42C)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1499132	NM_018129.4(PNPO):c.127G>C (p.Gly43Arg)	PNPO (G43R)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
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 1361484	NM_018129.4(PNPO):c.134G>A (p.Arg45Gln)	PNPO (R45Q)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 261005	NM_018129.4(PNPO):c.139-4C>G	PNPO	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1054203	NM_018129.4(PNPO):c.139G>A (p.Ala47Thr)	PNPO (A47T)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1056873	NM_018129.4(PNPO):c.140C>T (p.Ala47Val)	PNPO (A47V)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
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 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 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 1386268	NM_018129.4(PNPO):c.160A>T (p.Thr54Ser)	PNPO (T54S)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 129980	NM_018129.4(PNPO):c.165C>T (p.Ser55=)	PNPO	Single nucleotide variant (synonymous variant)	not provided +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 976399	NM_018129.4(PNPO):c.184T>C (p.Phe62Leu)	PNPO (F62L)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1407866	NM_018129.4(PNPO):c.205G>A (p.Ala69Thr)	PNPO (A69T)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1007971	NM_018129.4(PNPO):c.217C>T (p.Pro73Ser)	PNPO (P73S)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 571195	NM_018129.4(PNPO):c.226G>A (p.Gly76Arg)	PNPO (G76R)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1508628	NM_018129.4(PNPO):c.236A>G (p.Asn79Ser)	PNPO (N79S)	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 1008828	NM_018129.4(PNPO):c.257G>A (p.Cys86Tyr)	PNPO (C86Y)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1399030	NM_018129.4(PNPO):c.263G>T (p.Arg88Ile)	PNPO (R88I)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1412292	NM_018129.4(PNPO):c.263+1G>C	PNPO	Single nucleotide variant (splice donor variant)	Pyridoxal phosphate-responsive seizures	GPathogenic
Select item 1499863	NM_018129.4(PNPO):c.263+3G>A	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1476330	NM_018129.4(PNPO):c.263+6C>T	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
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 409830	NM_018129.4(PNPO):c.264-2A>G	PNPO	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1047538	NM_018129.4(PNPO):c.269G>A (p.Gly90Glu)	PNPO (G90E)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1045066	NM_018129.4(PNPO):c.283C>A (p.Arg95Ser)	PNPO (R95S)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 849386	NM_018129.4(PNPO):c.284G>A (p.Arg95His)	PNPO (R95H)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GPathogenic/Likely pathogenic
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 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 1507472	NM_018129.4(PNPO):c.310A>G (p.Lys104Glu)	PNPO (K104E)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 847119	NM_018129.4(PNPO):c.319T>G (p.Phe107Val)	PNPO (F107V)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	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 966469	NM_018129.4(PNPO):c.323G>A (p.Arg108His)	PNPO (R108H)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 582891	NM_018129.4(PNPO):c.323G>T (p.Arg108Leu)	PNPO (R108L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 provided +3 more	GBenign/Likely benign
Select item 1515999	NM_018129.4(PNPO):c.356A>G (p.Lys119Arg)	PNPO (K119R)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 1044014	NM_018129.4(PNPO):c.359A>C (p.Glu120Ala)	PNPO (E120A)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 6524	NM_018129.4(PNPO):c.364-1G>A	PNPO	Single nucleotide variant (splice acceptor variant)	Pyridoxal phosphate-responsive seizures	GPathogenic
Select item 581522	NM_018129.4(PNPO):c.385C>T (p.Leu129Phe)	PNPO (L129F)	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 1466464	NM_018129.4(PNPO):c.400G>C (p.Glu134Gln)	PNPO (E134Q)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance

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