Related gene-specific medical variations for Gene (Select 9693) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065187	NM_001394067.2(RAPGEF2):c.53C>T (p.Pro18Leu)	LOC129993307, RAPGEF2 (P18L)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 7	GUncertain significance
Select item 3064560	NM_001394067.2(RAPGEF2):c.4975G>A (p.Ala1659Thr)	RAPGEF2 (A1498T +5 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 7	GUncertain significance
Select item 2615204	NM_001394067.2(RAPGEF2):c.2651C>T (p.Thr884Ile)	LOC123493232, RAPGEF2 (T723I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996945	NM_001394067.2(RAPGEF2):c.819G>C (p.Glu273Asp)	RAPGEF2 (E112D +2 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 7	GUncertain significance
Select item 980703	GRCh37/hg19 4q32.1(chr4:160267251-160472913)x3	RAPGEF2	Copy number gain	not provided	GUncertain significance
Select item 688856	GRCh37/hg19 4q32.1(chr4:160239570-161231483)x3	RAPGEF2	Copy number gain	not provided	GUncertain significance
Select item 687191	GRCh37/hg19 4q32.1(chr4:160254540-160373894)x3	RAPGEF2	Copy number gain	not provided	GUncertain significance
Select item 559389	RAPGEF2, 5-BP INS, TTTCA(n) REPEAT EXPANSION	RAPGEF2	Microsatellite	Epilepsy, familial adult myoclonic, 7	GPathogenic

ClinVar