ClinVar for MedGen (Select 1648486) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241977	NM_001100913.3(PACS2):c.148G>A (p.Val50Met)	PACS2 (V50M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 66	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 2585524	NM_001100913.3(PACS2):c.2268del (p.Ala757fs)	PACS2 (A667fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 2442062	NM_001100913.3(PACS2):c.1351G>A (p.Ala451Thr)	PACS2 (A376T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	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 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 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 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
Select item 2434560	NM_001100913.3(PACS2):c.1927C>T (p.Gln643Ter)	PACS2 (Q564* +2 more)	Single nucleotide variant (nonsense)	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 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 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 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 1878613	NM_001100913.3(PACS2):c.2479A>C (p.Lys827Gln)	PACS2 (K737Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	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 1709848	NM_001100913.3(PACS2):c.622T>G (p.Ser208Ala)	PACS2 (S141A +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 1512419	NM_001100913.3(PACS2):c.1813G>A (p.Val605Met)	PACS2 (V601M +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66 +2 more	GUncertain significance
Select item 1441469	NM_001100913.3(PACS2):c.7G>C (p.Glu3Gln)	BRF1, PACS2 (E3Q)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 66 +1 more	GUncertain significance
Select item 1397191	NM_001100913.3(PACS2):c.598G>A (p.Glu200Lys)	PACS2 (E200K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66 +1 more	GConflicting classifications of pathogenicity
Select item 1341720	NM_001100913.3(PACS2):c.2647G>A (p.Ala883Thr)	PACS2 (A793T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1328390	NM_001100913.3(PACS2):c.1507T>C (p.Trp503Arg)	PACS2 (W424R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 1213703	NM_001100913.3(PACS2):c.827C>T (p.Ala276Val)	PACS2 (A201V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1184372	NM_001100913.3(PACS2):c.2263G>A (p.Val755Ile)	PACS2 (V665I +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 1098672	NM_001100913.3(PACS2):c.2315C>G (p.Pro772Arg)	PACS2 (P682R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 1029076	NM_001100913.3(PACS2):c.58G>A (p.Val20Met)	BRF1, LOC130056677 +1 more (V20M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 986735	NM_001100913.3(PACS2):c.369C>A (p.Asn123Lys)	PACS2 (N123K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 931044	NM_001100913.3(PACS2):c.2218T>A (p.Ser740Thr)	PACS2 (S740T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930460	NM_001100913.3(PACS2):c.1381G>A (p.Asp461Asn)	PACS2 (D386N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 66	GConflicting classifications of pathogenicity
Select item 783699	NM_001100913.3(PACS2):c.366G>A (p.Lys122=)	PACS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 768683	NM_001100913.3(PACS2):c.489C>T (p.Pro163=)	PACS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 495141	NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	PACS2 (E209K +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic

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Items: 32