"Revvity Omics, Revvity"[submitter] AND "PACS2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434562	NM_001100913.3(PACS2):c.368A>C (p.Asn123Thr)	PACS2 (N123T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 2434558	NM_001100913.3(PACS2):c.371G>T (p.Arg124Ile)	PACS2 (R124I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 2434563	NM_001100913.3(PACS2):c.643G>A (p.Asp215Asn)	PACS2 (D148N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1810540	NM_001100913.3(PACS2):c.986C>G (p.Ser329Trp)	PACS2 (S254W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2689649	NM_001100913.3(PACS2):c.1237A>G (p.Lys413Glu)	PACS2 (K338E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 1621296	NM_001100913.3(PACS2):c.1294C>T (p.Arg432Trp)	PACS2 (R357W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66 +1 more	GConflicting classifications of pathogenicity
Select item 2434556	NM_001100913.3(PACS2):c.1454T>A (p.Leu485His)	PACS2 (L406H +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 2434557	NM_001100913.3(PACS2):c.1541G>A (p.Arg514Lys)	PACS2 (R435K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 2434559	NM_001100913.3(PACS2):c.1873C>T (p.Leu625=)	PACS2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 66 +1 more	GConflicting classifications of pathogenicity
Select item 2434560	NM_001100913.3(PACS2):c.1927C>T (p.Gln643Ter)	PACS2 (Q564* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 2434564	NM_001100913.3(PACS2):c.2098G>A (p.Glu700Lys)	PACS2 (E610K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 2434561	NM_001100913.3(PACS2):c.2626G>A (p.Val876Ile)	PACS2 (V786I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66 +1 more	GUncertain significance