ClinVar for MedGen (Select 1638894) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064682	NM_006586.5(CNPY3):c.646G>A (p.Gly216Arg)	CNPY3, CNPY3-GNMT (G127R +2 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 2582476	NM_006586.5(CNPY3):c.241G>T (p.Asp81Tyr)	CNPY3, CNPY3-GNMT (D81Y)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 2582320	NM_006586.5(CNPY3):c.50TGC[5] (p.Leu22_Leu25del)	CNPY3, CNPY3-GNMT	Microsatellite (inframe_deletion +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2502353	NM_006586.5(CNPY3):c.548del (p.Asn183fs)	CNPY3, CNPY3-GNMT (N183fs +2 more)	Deletion (frameshift variant +2 more)	Developmental and epileptic encephalopathy, 60	GPathogenic
Select item 2440172	NM_006586.5(CNPY3):c.275+1G>A	CNPY3-GNMT, CNPY3	Single nucleotide variant (splice donor variant +1 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 1805693	NM_006586.5(CNPY3):c.592G>A (p.Val198Met)	CNPY3, CNPY3-GNMT (V109M +2 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 1032459	NM_006586.5(CNPY3):c.637G>A (p.Gly213Ser)	CNPY3-GNMT, CNPY3 (G246S +2 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 1030425	NM_006586.5(CNPY3):c.276-32G>A	CNPY3, CNPY3-GNMT (E115K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 1028526	NM_006586.5(CNPY3):c.674A>G (p.Lys225Arg)	CNPY3, CNPY3-GNMT (K136R +2 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 1028525	NM_006586.5(CNPY3):c.199G>A (p.Gly67Ser)	CNPY3, CNPY3-GNMT (G67S)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 932071	NM_006586.5(CNPY3):c.734_737del (p.Gln245fs)	CNPY3, CNPY3-GNMT (Q245fs +2 more)	Deletion (frameshift variant +2 more)	Developmental and epileptic encephalopathy, 60	GLikely pathogenic
Select item 870183	NM_006586.5(CNPY3):c.362G>A (p.Arg121Gln)	CNPY3-GNMT, CNPY3 (R154Q +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Developmental and epileptic encephalopathy, 60	GUncertain significance
Select item 870182	NM_006586.5(CNPY3):c.628C>T (p.Gln210Ter)	CNPY3, CNPY3-GNMT (Q210* +2 more)	Single nucleotide variant (nonsense +2 more)	Developmental and epileptic encephalopathy, 60	GLikely pathogenic
Select item 800988	NM_006586.5(CNPY3):c.496-3_496-2del	CNPY3, CNPY3-GNMT	Deletion (splice acceptor variant +1 more)	not specified	GLikely pathogenic
Select item 518431	NM_006586.5(CNPY3):c.495+1G>A	CNPY3, CNPY3-GNMT	Single nucleotide variant (splice donor variant +1 more)	Developmental and epileptic encephalopathy, 60	GPathogenic
Select item 518430	NM_006586.5(CNPY3):c.702_720dup (p.Ser241delinsGlySerArgArgGlnGluTer)	CNPY3, CNPY3-GNMT	Duplication (nonsense +2 more)	Developmental and epileptic encephalopathy, 60	GPathogenic
Select item 518429	NM_006586.5(CNPY3):c.373G>C (p.Gly125Arg)	CNPY3, CNPY3-GNMT (G125R +2 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 60	GPathogenic