ClinVar for MedGen (Select 375031) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436504	NM_020151.4(STARD7):c.542A>G (p.Asn181Ser)	STARD7 (N181S +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 2 +1 more	GUncertain significance
Select item 1701639	NM_020151.4(STARD7):c.418C>T (p.Arg140Cys)	STARD7 (R140C +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 2	GUncertain significance
Select item 1696639	NM_020151.4(STARD7):c.175G>T (p.Gly59Cys)	LOC129934328, STARD7 (G59C)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 2	GUncertain significance
Select item 1342562	NM_020151.4(STARD7):c.361C>T (p.Pro121Ser)	STARD7 (P121S +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 2	GUncertain significance
Select item 1032452	NM_000682.7(ADRA2B):c.649G>A (p.Glu217Lys)	ADRA2B (E217K)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 2 +1 more	GUncertain significance
Select item 1029933	NM_000682.7(ADRA2B):c.274G>A (p.Asp92Asn)	ADRA2B (D92N)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 2	GUncertain significance
Select item 694447	NC_000002.12:g.96197067AAAAT[(n)]/AAATG[(n)]	STARD7	Microsatellite	Epilepsy, familial adult myoclonic, 2	GPathogenic
Select item 635132	NM_020151.3(STARD7):c.291-1572_291-1518ATTTT[376]ATTTC[274]	STARD7	Microsatellite	Epilepsy, familial adult myoclonic, 2	GPathogenic
Select item 192366	NM_000682.7(ADRA2B):c.675_686delinsGTTTGGCAG (p.His225_Leu229delinsGlnPheGlyArg)	ADRA2B	Indel (inframe_indel)	Epilepsy, familial adult myoclonic, 2	GUncertain significance
Select item 191117	NM_000682.7(ADRA2B):c.664C>T (p.Arg222Ter)	ADRA2B (R222*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity