ClinVar for MedGen (Select 1684724) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571202	NM_000807.4(GABRA2):c.881C>T (p.Thr294Ile)	GABRA2 (T239I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2432000	NM_000807.4(GABRA2):c.1174A>G (p.Thr392Ala)	GABRA2 (T337A +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2431997	NM_000807.4(GABRA2):c.1118A>G (p.Asn373Ser)	GABRA2 (N318S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 78	GUncertain significance
Select item 1709312	NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)	GABRA2 (T233A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 78	GConflicting classifications of pathogenicity
Select item 1685836	NM_000807.4(GABRA2):c.995C>T (p.Ala332Val)	GABRA2 (A277V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 78 +1 more	GPathogenic/Likely pathogenic
Select item 1675200	NM_000807.4(GABRA2):c.855del (p.Phe285fs)	GABRA2 (F230fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 78	GPathogenic
Select item 1417022	NM_000807.4(GABRA2):c.29T>C (p.Met10Thr)	GABRA2 (M10T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1342366	NM_000807.4(GABRA2):c.764T>C (p.Ile255Thr)	GABRA2 (I200T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1325559	NM_000807.4(GABRA2):c.76G>T (p.Val26Leu)	GABRA2 (V26L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 78	GUncertain significance
Select item 976773	NM_000807.4(GABRA2):c.875C>T (p.Thr292Ile)	GABRA2 (T237I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 78	GLikely pathogenic
Select item 976220	NM_000807.4(GABRA2):c.438del (p.Arg147fs)	GABRA2 (R147fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 78 +1 more	GUncertain significance
Select item 689390	NM_000807.4(GABRA2):c.975C>A (p.Phe325Leu)	GABRA2 (F325L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 78	GPathogenic
Select item 689389	NM_000807.4(GABRA2):c.788T>C (p.Met263Thr)	GABRA2 (M263T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 78	GPathogenic
Select item 689388	NM_000807.4(GABRA2):c.871C>G (p.Leu291Val)	GABRA2 (L291V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 78	GPathogenic
Select item 689387	NM_000807.4(GABRA2):c.875C>A (p.Thr292Lys)	GABRA2 (T292K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 617630	NM_000807.4(GABRA2):c.1003A>C (p.Asn335His)	GABRA2 (N335H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 78	GUncertain significance