ClinVar for MedGen (Select 934599) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234881	NM_007198.4(PLPBP):c.19A>G (p.Met7Val)	LOC113788277, PLPBP (M42V +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
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 2186044	NM_007198.4(PLPBP):c.721C>T (p.Arg241Ter)	PLPBP (R189* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	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 1956005	NM_007198.4(PLPBP):c.695C>T (p.Ala232Val)	PLPBP (A180V +3 more)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, vitamin B6-dependent +1 more	GConflicting classifications of pathogenicity
Select item 1878666	NM_007198.4(PLPBP):c.19A>C (p.Met7Leu)	LOC113788277, PLPBP (M42L +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
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 1805772	NM_007198.4(PLPBP):c.88C>G (p.Arg30Gly)	LOC113788277, PLPBP (R30G +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
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 1696739	NM_007198.4(PLPBP):c.793G>A (p.Val265Met)	PLPBP (V213M +3 more)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
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 1213761	NM_007198.4(PLPBP):c.86C>T (p.Ala29Val)	LOC113788277, PLPBP (A29V +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
Select item 1032530	NM_007198.4(PLPBP):c.52C>T (p.Arg18Trp)	LOC113788277, PLPBP (R18W +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
Select item 1032529	NM_007198.4(PLPBP):c.40G>C (p.Gly14Arg)	LOC113788277, PLPBP (G49R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1027732	NM_007198.4(PLPBP):c.823C>G (p.His275Asp)	PLPBP (H275D +3 more)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, vitamin B6-dependent	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 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 816888	NM_007198.4(PLPBP):c.773del (p.Pro258fs)	PLPBP (P256fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 802398	NM_007198.4(PLPBP):c.704T>G (p.Val235Gly)	PLPBP (V183G +3 more)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, vitamin B6-dependent +1 more	GUncertain significance
Select item 802397	NM_007198.4(PLPBP):c.613C>T (p.Arg205Trp)	PLPBP (R203W +3 more)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, vitamin B6-dependent	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)	Epilepsy, early-onset, vitamin B6-dependent +1 more	GBenign
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 374857	NM_007198.4(PLPBP):c.722G>A (p.Arg241Gln)	PLPBP (R241Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 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 374854	NM_007198.4(PLPBP):c.207+1G>A	PLPBP	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 374853	NM_007198.4(PLPBP):c.524T>C (p.Leu175Pro)	PLPBP (L175P +3 more)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, vitamin B6-dependent	GPathogenic
Select item 374852	NM_007198.4(PLPBP):c.233C>G (p.Ser78Ter)	PLPBP (S78* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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Items: 28