PLPBP[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1936701	NM_007198.4(PLPBP):c.100-20G>A	PLPBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915012	NM_007198.4(PLPBP):c.100-5G>T	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2123440	NM_007198.4(PLPBP):c.100-4G>T	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988987	NM_007198.4(PLPBP):c.111C>T (p.Ala37=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2603428	NM_007198.4(PLPBP):c.112A>T (p.Ile38Phe)	PLPBP (I73F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2702092	NM_007198.4(PLPBP):c.114C>G (p.Ile38Met)	PLPBP (I73M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2136655	NM_007198.4(PLPBP):c.119C>T (p.Pro40Leu)	PLPBP (P75L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2848480	NM_007198.4(PLPBP):c.123G>A (p.Arg41=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2009374	NM_007198.4(PLPBP):c.129G>A (p.Val43=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2018340	NM_007198.4(PLPBP):c.132G>C (p.Ala44=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1920600	NM_007198.4(PLPBP):c.132G>T (p.Ala44=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 714407	NM_007198.4(PLPBP):c.132G>A (p.Ala44=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3307817	NM_007198.4(PLPBP):c.137G>C (p.Ser46Thr)	PLPBP (S81T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1027730	NM_007198.4(PLPBP):c.137G>A (p.Ser46Asn)	PLPBP (S81N +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
Select item 2190980	NM_007198.4(PLPBP):c.145A>G (p.Lys49Glu)	PLPBP (K84E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2129987	NM_007198.4(PLPBP):c.150T>C (p.Pro50=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1965697	NM_007198.4(PLPBP):c.150T>G (p.Pro50=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2068877	NM_007198.4(PLPBP):c.157A>C (p.Met53Leu)	PLPBP (M1L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 775263	NM_007198.4(PLPBP):c.157A>G (p.Met53Val)	PLPBP (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2897496	NM_007198.4(PLPBP):c.159G>A (p.Met53Ile)	PLPBP (M1I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2772398	NM_007198.4(PLPBP):c.162G>T (p.Val54=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023257	NM_007198.4(PLPBP):c.165C>G (p.Ile55Met)	PLPBP (I90M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986115	NM_007198.4(PLPBP):c.165C>T (p.Ile55=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901999	NM_007198.4(PLPBP):c.166G>A (p.Glu56Lys)	PLPBP (E4K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1950154	NM_007198.4(PLPBP):c.177A>T (p.Gly59=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917021	NM_007198.4(PLPBP):c.180T>C (p.His60=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1313241	NM_007198.4(PLPBP):c.187C>T (p.Arg63Cys)	PLPBP (R11C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1934485	NM_007198.4(PLPBP):c.194T>C (p.Phe65Ser)	PLPBP (F65S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159457	NM_007198.4(PLPBP):c.199G>A (p.Glu67Lys)	PLPBP (E15K +2 more)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, vitamin B6-dependent +1 more	GConflicting classifications of pathogenicity
Select item 3384686	NM_007198.4(PLPBP):c.204C>A (p.Asn68Lys)	PLPBP (N103K +2 more)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
Select item 2743804	NM_007198.4(PLPBP):c.207C>A (p.Tyr69Ter)	PLPBP (Y17* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2175005	NM_007198.4(PLPBP):c.207C>T (p.Tyr69=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112606	NM_007198.4(PLPBP):c.207+1G>C	PLPBP	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1805767	NM_007198.4(PLPBP):c.207+1G>T	PLPBP	Single nucleotide variant (splice donor variant)	Epilepsy, early-onset, vitamin B6-dependent +1 more	GPathogenic
Select item 374854	NM_007198.4(PLPBP):c.207+1G>A	PLPBP	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2993567	NM_007198.4(PLPBP):c.207+7G>A	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2169902	NM_007198.4(PLPBP):c.207+10C>T	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938145	NM_007198.4(PLPBP):c.207+10C>A	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964308	NM_007198.4(PLPBP):c.208-20G>C	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021165	NM_007198.4(PLPBP):c.208-19T>G	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915648	NM_007198.4(PLPBP):c.208-10G>T	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1323499	NM_007198.4(PLPBP):c.211C>T (p.Gln71Ter)	PLPBP (Q106* +2 more)	Single nucleotide variant (nonsense +1 more)	Epilepsy, early-onset, vitamin B6-dependent	GPathogenic
Select item 1930060	NM_007198.4(PLPBP):c.219G>A (p.Leu73=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 374852	NM_007198.4(PLPBP):c.233C>G (p.Ser78Ter)	PLPBP (S78* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2026142	NM_007198.4(PLPBP):c.238C>A (p.Pro80Thr)	PLPBP (P115T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064828	NM_007198.4(PLPBP):c.243+9A>G	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759839	NM_007198.4(PLPBP):c.243+11A>G	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752876	NM_007198.4(PLPBP):c.243+12G>C	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906471	NM_007198.4(PLPBP):c.243+12G>A	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987825	NM_007198.4(PLPBP):c.243+13C>T	PLPBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1963338	NM_007198.4(PLPBP):c.243+14T>A	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970263	NM_007198.4(PLPBP):c.243+17A>G	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2063247	NM_007198.4(PLPBP):c.243+17A>T	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902272	NM_007198.4(PLPBP):c.243+17_243+18del	PLPBP	Deletion (intron variant)	not provided	GBenign
Select item 2868227	NM_007198.4(PLPBP):c.243+19T>C	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2118543	NM_007198.4(PLPBP):c.244-20_244-19delinsAT	PLPBP	Indel (intron variant)	not provided	GUncertain significance
Select item 2103651	NM_007198.4(PLPBP):c.244-19G>T	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989465	NM_007198.4(PLPBP):c.244-18T>C	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925646	NM_007198.4(PLPBP):c.244-18T>A	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732854	NM_007198.4(PLPBP):c.244-8C>T	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2136656	NM_007198.4(PLPBP):c.249_252del (p.Ser84fs)	PLPBP (S32fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2134257	NM_007198.4(PLPBP):c.250T>C (p.Ser84Pro)	PLPBP (S84P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922442	NM_007198.4(PLPBP):c.255G>A (p.Leu85=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117171	NM_007198.4(PLPBP):c.257G>T (p.Cys86Phe)	PLPBP (C34F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374856	NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu)	PLPBP (P87L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2117172	NM_007198.4(PLPBP):c.273G>C (p.Trp91Cys)	PLPBP (W91C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984072	NM_007198.4(PLPBP):c.276C>T (p.His92=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170415	NM_007198.4(PLPBP):c.281T>C (p.Ile94Thr)	PLPBP (I94T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2658536	NM_007198.4(PLPBP):c.285C>T (p.Gly95=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723349	NM_007198.4(PLPBP):c.288C>T (p.His96=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2813194	NM_007198.4(PLPBP):c.291A>G (p.Leu97=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745421	NM_007198.4(PLPBP):c.292C>T (p.Gln98Ter)	PLPBP (Q46* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2761004	NM_007198.4(PLPBP):c.316del (p.Met106fs)	PLPBP (M106fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2031588	NM_007198.4(PLPBP):c.316A>T (p.Met106Leu)	PLPBP (M104L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952621	NM_007198.4(PLPBP):c.319G>A (p.Ala107Thr)	PLPBP (A105T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797687	NM_007198.4(PLPBP):c.319+1G>C	PLPBP	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2790871	NM_007198.4(PLPBP):c.319+14A>G	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912429	NM_007198.4(PLPBP):c.319+19T>A	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038772	NM_007198.4(PLPBP):c.320-19T>C	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960846	NM_007198.4(PLPBP):c.320-17C>T	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793035	NM_007198.4(PLPBP):c.320-13dup	PLPBP	Duplication (intron variant)	not provided	GLikely benign
Select item 2103396	NM_007198.4(PLPBP):c.320-12G>T	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130717	NM_007198.4(PLPBP):c.320-7A>G	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 374855	NM_007198.4(PLPBP):c.320-2A>G	PLPBP	Single nucleotide variant (splice acceptor variant)	Epilepsy, early-onset, vitamin B6-dependent +1 more	GPathogenic
Select item 2823889	NM_007198.4(PLPBP):c.321T>C (p.Ala107=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969561	NM_007198.4(PLPBP):c.322G>A (p.Val108Ile)	PLPBP (V106I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3420973	NM_007198.4(PLPBP):c.326C>T (p.Pro109Leu)	PLPBP (P107L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2068769	NM_007198.4(PLPBP):c.329A>G (p.Asn110Ser)	PLPBP (N108S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2793954	NM_007198.4(PLPBP):c.336C>T (p.Phe112=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985002	NM_007198.4(PLPBP):c.340C>A (p.Leu114Met)	PLPBP (L112M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027731	NM_007198.4(PLPBP):c.347C>T (p.Thr116Ile)	PLPBP (T116I +2 more)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
Select item 2049326	NM_007198.4(PLPBP):c.362A>G (p.Lys121Arg)	PLPBP (K119R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 503895	NM_007198.4(PLPBP):c.370_373del (p.Asp124fs)	PLPBP (D72fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2995257	NM_007198.4(PLPBP):c.378G>A (p.Val126=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806055	NM_007198.4(PLPBP):c.387del (p.Trp130fs)	PLPBP (W128fs +2 more)	Deletion (frameshift variant)	Epilepsy, early-onset, vitamin B6-dependent	GPathogenic
Select item 2444519	NM_007198.4(PLPBP):c.389G>A (p.Trp130Ter)	PLPBP (W128* +2 more)	Single nucleotide variant (nonsense)	Epilepsy, early-onset, vitamin B6-dependent	GLikely pathogenic
Select item 2805860	NM_007198.4(PLPBP):c.406_408del (p.Pro136del)	PLPBP (P136del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1925167	NM_007198.4(PLPBP):c.407C>T (p.Pro136Leu)	PLPBP (P134L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889554	NM_007198.4(PLPBP):c.412A>C (p.Arg138=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749731	NM_007198.4(PLPBP):c.414G>A (p.Arg138=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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