ClinVar for MedGen (Select 924120) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1169913	NM_000811.3(GABRA6):c.*135C>T	GABRA6	Single nucleotide variant (3 prime UTR variant)	Childhood absence epilepsy	GBenign
Select item 1169912	NM_000811.3(GABRA6):c.1344C>G (p.Val448=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GBenign
Select item 1169911	NM_000811.3(GABRA6):c.1005C>G (p.Ala335=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy +1 more	GBenign
Select item 1169910	NM_000811.3(GABRA6):c.951G>T (p.Ala317=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GBenign
Select item 1169909	NM_000811.3(GABRA6):c.9G>A (p.Ser3=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy +1 more	GBenign
Select item 1168450	NM_000811.3(GABRA6):c.1210C>T (p.Pro404Ser)	GABRA6 (P404S)	Single nucleotide variant (missense variant)	GABRA6-related condition +1 more	GBenign
Select item 1154309	NM_000811.3(GABRA6):c.1142T>C (p.Ile381Thr)	GABRA6 (I381T)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GLikely benign
Select item 767175	NM_000811.3(GABRA6):c.594C>A (p.Val198=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GBenign
Select item 715115	NM_000811.3(GABRA6):c.60A>G (p.Lys20=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy +1 more	GBenign/Likely benign
Select item 707554	NM_000811.3(GABRA6):c.805G>A (p.Val269Ile)	GABRA6 (V269I)	Single nucleotide variant (missense variant)	GABRA6-related condition +1 more	GBenign
Select item 644592	NM_000811.3(GABRA6):c.255G>C (p.Gln85His)	GABRA6 (Q85H)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GUncertain significance
Select item 637055	NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys)	SCN1B (E29K)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5 +2 more	GUncertain significance
Select item 477870	NM_000811.3(GABRA6):c.847A>G (p.Met283Val)	GABRA6 (M283V)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GUncertain significance
Select item 477869	NM_000811.3(GABRA6):c.710A>G (p.Gln237Arg)	GABRA6 (Q237R)	Single nucleotide variant (missense variant)	Childhood absence epilepsy +1 more	GLikely benign
Select item 477868	NM_000811.3(GABRA6):c.663A>G (p.Lys221=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GLikely benign
Select item 477867	NM_000811.3(GABRA6):c.639A>G (p.Gln213=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GBenign
Select item 477866	NM_000811.3(GABRA6):c.560C>T (p.Thr187Met)	GABRA6 (T187M)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GBenign
Select item 477865	NM_000811.3(GABRA6):c.507T>C (p.Ala169=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GLikely benign
Select item 477864	NM_000811.3(GABRA6):c.371C>G (p.Ser124Cys)	GABRA6 (S124C)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GUncertain significance
Select item 477863	NM_000811.3(GABRA6):c.339G>A (p.Thr113=)	GABRA6	Single nucleotide variant (synonymous variant)	Childhood absence epilepsy	GLikely benign
Select item 477862	NM_000811.3(GABRA6):c.1156G>A (p.Glu386Lys)	GABRA6 (E386K)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GLikely benign
Select item 477861	NM_000811.3(GABRA6):c.1053A>C (p.Lys351Asn)	GABRA6 (K351N)	Single nucleotide variant (missense variant)	Childhood absence epilepsy	GLikely benign

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Items: 22