"Pediatric Department, Peking University First Hospital"[submitter] AN - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 947530	NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro)	PCDH19 (A547P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 649959	NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro)	PCDH19 (A369P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +1 more	GConflicting classifications of pathogenicity
Select item 1710292	NM_001184880.2(PCDH19):c.1078G>A (p.Glu360Lys)	PCDH19 (E360K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 1710289	NM_001184880.2(PCDH19):c.840C>A (p.Tyr280Ter)	PCDH19 (Y280*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 1710290	NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys)	PCDH19 (N270K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GPathogenic/Likely pathogenic
Select item 1710291	NM_001184880.2(PCDH19):c.595G>C (p.Glu199Gln)	PCDH19 (E199Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 619130	NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter)	PCDH19 (Y154*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 9 +1 more	GPathogenic/Likely pathogenic
Select item 1710294	NM_001184880.2(PCDH19):c.344_345del (p.Ile115fs)	PCDH19 (I115fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 1710288	NM_001184880.2(PCDH19):c.317T>A (p.Met106Lys)	PCDH19 (M106K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 1710293	NM_001184880.2(PCDH19):c.158dup (p.Asp54fs)	PCDH19 (D54fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic