55163[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 145638	GRCh38/hg38 17q21.32(chr17:47686487-47986961)x1	CDK5RAP3, LOC109286563 +26 more	Copy number loss	See cases	GUncertain significance
Select item 323907	NM_018129.3(PNPO):c.-115G>A	LOC121852937, PNPO	Single nucleotide variant	Pyridoxal phosphate-responsive seizures	GLikely benign
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 890802	NM_018129.4(PNPO):c.-23G>A	PNPO	Single nucleotide variant (5 prime UTR variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
Select item 323908	NM_018129.4(PNPO):c.-19A>G	PNPO	Single nucleotide variant (5 prime UTR variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance
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 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 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 2710453	NM_018129.4(PNPO):c.6G>A (p.Thr2=)	PNPO	Single nucleotide variant (synonymous 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 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)	Pyridoxal phosphate-responsive seizures +1 more	GConflicting classifications of pathogenicity
Select item 1175915	NM_018129.4(PNPO):c.18G>A (p.Arg6=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures +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 2994034	NM_018129.4(PNPO):c.27G>A (p.Thr9=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
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 2919288	NM_018129.4(PNPO):c.30G>A (p.Ala10=)	PNPO	Single nucleotide variant (synonymous 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 502681	NM_018129.4(PNPO):c.37G>T (p.Gly13Trp)	PNPO (G13W)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +1 more	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 2956471	NM_018129.4(PNPO):c.51G>A (p.Glu17=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 892041	NM_018129.4(PNPO):c.59G>C (p.Gly20Ala)	PNPO (G20A)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	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 1094246	NM_018129.4(PNPO):c.66C>T (p.Leu22=)	PNPO	Single nucleotide variant (synonymous 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 701076	NM_018129.4(PNPO):c.72C>T (p.His24=)	PNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 681686	NM_018129.4(PNPO):c.73C>T (p.Leu25=)	PNPO	Single nucleotide variant (synonymous variant)	not provided	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 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 2842249	NM_018129.4(PNPO):c.99C>T (p.Asp33=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 1080451	NM_018129.4(PNPO):c.100C>T (p.Leu34=)	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 1302980	NM_018129.4(PNPO):c.104G>A (p.Gly35Glu)	PNPO (G35E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1985714	NM_018129.4(PNPO):c.114C>T (p.Arg38=)	PNPO	Single nucleotide variant (synonymous 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)	not specified +1 more	GUncertain significance
Select item 193392	NM_018129.4(PNPO):c.123C>T (p.Tyr41=)	PNPO	Single nucleotide variant (synonymous variant)	not provided	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 516487	NM_018129.4(PNPO):c.132C>T (p.Asp44=)	PNPO	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 2822323	NM_018129.4(PNPO):c.138+1G>A	PNPO	Single nucleotide variant (splice donor variant)	Pyridoxal phosphate-responsive seizures	GLikely pathogenic
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 1567561	NM_018129.4(PNPO):c.138+8C>A	PNPO	Single nucleotide variant (intron 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 696574	NM_018129.4(PNPO):c.138+9G>A	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures +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 2908566	NM_018129.4(PNPO):c.138+14G>A	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	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 2864908	NM_018129.4(PNPO):c.139-17T>C	PNPO	Single nucleotide variant (intron 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 1087642	NM_018129.4(PNPO):c.139-10C>T	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 1654632	NM_018129.4(PNPO):c.139-7T>C	PNPO	Single nucleotide variant (intron variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
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 2762163	NM_018129.4(PNPO):c.144T>C (p.Phe48=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 378403	NM_018129.4(PNPO):c.147G>A (p.Glu49=)	PNPO	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 206440	NM_018129.4(PNPO):c.148G>A (p.Glu50Lys)	PNPO (E50K)	Single nucleotide variant (missense variant)	not specified +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 1107338	NM_018129.4(PNPO):c.156T>C (p.His52=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
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 1998215	NM_018129.4(PNPO):c.162C>G (p.Thr54=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
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 415838	NM_018129.4(PNPO):c.168T>G (p.Leu56=)	PNPO	Single nucleotide variant (synonymous variant)	PNPO-related disorder +1 more	GLikely benign
Select item 1323480	NM_018129.4(PNPO):c.178A>T (p.Lys60Ter)	PNPO (K60*)	Single nucleotide variant (nonsense)	Pyridoxal phosphate-responsive seizures	GPathogenic
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 746819	NM_018129.4(PNPO):c.189T>C (p.Ala63=)	PNPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 967984	NM_018129.4(PNPO):c.205delinsTTTCCCCT (p.Ala69fs)	PNPO (A69fs)	Indel (frameshift variant)	Pyridoxal phosphate-responsive seizures	GPathogenic
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 2034679	NM_018129.4(PNPO):c.222C>T (p.Asp74=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
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 2866567	NM_018129.4(PNPO):c.228G>A (p.Gly76=)	PNPO	Single nucleotide variant (synonymous variant)	Pyridoxal phosphate-responsive seizures	GLikely benign
Select item 498492	NM_018129.4(PNPO):c.236_241del (p.Asn79_Ala80del)	PNPO	Deletion (inframe_deletion)	not provided	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 2009376	NM_018129.4(PNPO):c.242T>A (p.Met81Lys)	PNPO (M81K)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures	GUncertain significance

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