ClinVar for MedGen (Select 414062) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376977	NM_000815.5(GABRD):c.457del (p.Leu153fs)	GABRD (L153fs)	Deletion (frameshift variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 3359150	NM_000815.5(GABRD):c.872C>T (p.Thr291Ile)	GABRD (T291I)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 3068123	NM_000815.5(GABRD):c.721T>C (p.Phe241Leu)	GABRD (F241L)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 3064155	NM_000815.5(GABRD):c.875C>T (p.Thr292Met)	GABRD (T292M)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 2501749	NM_000815.5(GABRD):c.691+8_691+9del	GABRD	Microsatellite (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 2431947	NM_000815.5(GABRD):c.933C>A (p.Asp311Glu)	GABRD (D311E)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 1878608	NM_000815.5(GABRD):c.1328A>G (p.Asn443Ser)	GABRD (N443S)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 1805963	NM_000815.5(GABRD):c.778C>G (p.Leu260Val)	GABRD (L260V)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GPathogenic
Select item 1805950	NM_000815.5(GABRD):c.286C>T (p.Arg96Trp)	GABRD (R96W)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 1701752	NM_000815.5(GABRD):c.715C>A (p.Leu239Met)	GABRD (L239M)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 1679621	NM_000815.5(GABRD):c.69-4C>T	GABRD	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 1342627	NM_000815.5(GABRD):c.1355T>C (p.Met452Thr)	GABRD (M452T)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 1341917	NM_000815.5(GABRD):c.1115A>G (p.Gln372Arg)	GABRD (Q372R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10 +1 more	GUncertain significance
Select item 1034302	NM_000815.5(GABRD):c.*17A>G	GABRD	Single nucleotide variant (3 prime UTR variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 1031663	NM_000815.5(GABRD):c.1247G>A (p.Arg416His)	GABRD (R416H)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10 +1 more	GUncertain significance
Select item 982605	NM_000815.5(GABRD):c.1253G>C (p.Arg418Pro)	GABRD (R418P)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 981525	NM_000815.5(GABRD):c.713G>C (p.Ser238Thr)	GABRD (S238T)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 961696	NM_000815.5(GABRD):c.992C>G (p.Ala331Gly)	GABRD (A331G)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10 +1 more	GUncertain significance
Select item 931155	NM_000815.5(GABRD):c.337A>G (p.Ser113Gly)	GABRD (S113G)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 851694	NM_000815.5(GABRD):c.669G>A (p.Thr223=)	GABRD	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 592138	NM_000815.5(GABRD):c.470+1G>C	GABRD	Single nucleotide variant (splice donor variant)	Epilepsy, idiopathic generalized, susceptibility to, 10	GUncertain significance
Select item 460009	NM_000815.5(GABRD):c.405C>T (p.His135=)	GABRD	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 460007	NM_000815.5(GABRD):c.1202C>T (p.Thr401Met)	GABRD (T401M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 460005	NM_000815.5(GABRD):c.1107C>A (p.Gly369=)	GABRD	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy	GBenign
Select item 447365	NM_000815.5(GABRD):c.1105G>A (p.Gly369Ser)	GABRD (G369S)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 10 +2 more	GUncertain significance
Select item 256824	NM_000815.5(GABRD):c.69-19G>A	GABRD	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 256823	NM_000815.5(GABRD):c.330T>C (p.Gly110=)	GABRD	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 10 +3 more	GBenign

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Items: 27