"Baylor Genetics"[submitter] AND "PCDH19"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582513	NM_001184880.2(PCDH19):c.1849del (p.Glu616_Ile617insTer)	PCDH19	Deletion (nonsense)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 561073	NM_001184880.2(PCDH19):c.1676del (p.Asn559fs)	PCDH19 (N559fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 1030145	NM_001184880.2(PCDH19):c.1225G>C (p.Gly409Arg)	PCDH19 (G409R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 561074	NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys)	PCDH19 (E307K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 692247	NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)	PCDH19 (D266E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GConflicting classifications of pathogenicity
Select item 1030146	NM_001184880.2(PCDH19):c.676A>G (p.Ile226Val)	PCDH19 (I226V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance

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