ClinVar for MedGen (Select 1648487) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391343	NM_030650.3(LNPK):c.200C>T (p.Pro67Leu)	LNPK (P133L +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GUncertain significance
Select item 2689374	NM_030650.3(LNPK):c.757C>T (p.Arg253Ter)	LNPK (R130* +4 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GUncertain significance
Select item 2689373	NM_030650.3(LNPK):c.317-1_317delinsTT	LNPK	Indel (splice acceptor variant)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GUncertain significance
Select item 2433495	NM_030650.3(LNPK):c.1110A>G (p.Ile370Met)	LNPK (I247M +4 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GUncertain significance
Select item 2431477	NM_030650.3(LNPK):c.901dup (p.Cys301fs)	LNPK (C178fs +4 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GLikely pathogenic
Select item 2412773	NM_030650.3(LNPK):c.402_405del (p.Leu134fs)	LNPK (L11fs +3 more)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GLikely pathogenic
Select item 1687739	NM_001085451.2(LNP1):c.195_196insGGAATTCCGATGCCGATCGTCTGACCGTCTTCCTAGAAGGCATTCTCATGAGGACCA (p.Pro66delinsGlyIleProMetProIleValTer)	LNP1	Insertion (nonsense)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GBenign
Select item 1339220	NM_030650.3(LNPK):c.361G>T (p.Glu121Ter)	LNPK (E121* +2 more)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GLikely pathogenic
Select item 1028894	NM_030650.3(LNPK):c.1054+1G>C	LNPK	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GPathogenic
Select item 870590	NM_030650.3(LNPK):c.896C>T (p.Ala299Val)	LNPK (A365V +4 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GUncertain significance
Select item 559607	NM_030650.3(LNPK):c.751C>T (p.Arg251Ter)	LNPK (R251* +4 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GPathogenic
Select item 559606	NM_030650.3(LNPK):c.726del (p.Pro243fs)	LNPK (P120fs +4 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GPathogenic