ClinVar for MedGen (Select 934658) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236263	NM_000812.4(GABRB1):c.1399G>T (p.Val467Phe)	GABRB1 (V467F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45	GUncertain significance
Select item 2585086	NM_000812.4(GABRB1):c.74C>G (p.Ala25Gly)	GABRB1 (A25G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45	GUncertain significance
Select item 2177482	NM_000812.4(GABRB1):c.618C>T (p.Ile206=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1805092	NM_000812.4(GABRB1):c.1243G>C (p.Gly415Arg)	GABRB1 (G415R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45	GUncertain significance
Select item 1704699	NM_000812.4(GABRB1):c.898A>T (p.Ile300Phe)	GABRB1 (I300F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45 +1 more	GConflicting classifications of pathogenicity
Select item 1377544	NM_000812.4(GABRB1):c.1142C>T (p.Ser381Leu)	GABRB1 (S381L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1299345	NM_000812.4(GABRB1):c.757C>T (p.Pro253Ser)	GABRB1 (P253S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1285290	NM_000812.4(GABRB1):c.80+24_80+25del	GABRB1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 45	GBenign
Select item 1280390	NM_000812.4(GABRB1):c.846A>G (p.Thr282=)	GABRB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 45 +1 more	GBenign
Select item 1034301	NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg)	GABRB1 (Q210R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45	GUncertain significance
Select item 984675	NM_000812.4(GABRB1):c.740T>C (p.Ile247Thr)	GABRB1 (I247T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45	GPathogenic
Select item 982940	NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys)	GABRB1 (T285K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45	GLikely pathogenic
Select item 638346	NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser)	GABRB1 (P103S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45	GUncertain significance
Select item 431076	NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp)	GABRB1 (R53W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45	GLikely pathogenic
Select item 265864	NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile)	GABRB1 (T287I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45	GLikely pathogenic
Select item 265863	NM_000812.4(GABRB1):c.737T>C (p.Phe246Ser)	GABRB1 (F246S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 45	GPathogenic