ClinVar for MedGen (Select 344263) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250449	NM_000748.3(CHRNB2):c.821T>A (p.Leu274Gln)	CHRNB2 (L274Q)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 3	GUncertain significance
Select item 3061958	NM_000748.3(CHRNB2):c.256-1G>A	CHRNB2	Single nucleotide variant (splice acceptor variant)	Autosomal dominant nocturnal frontal lobe epilepsy 3	GLikely pathogenic
Select item 2688781	NM_000748.3(CHRNB2):c.65G>A (p.Gly22Glu)	CHRNB2 (G22E)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 3	GUncertain significance
Select item 2440037	NM_000748.3(CHRNB2):c.1333C>G (p.Gln445Glu)	CHRNB2 (Q445E)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 1707538	NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)	CHRNB2 (V287L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GPathogenic/Likely pathogenic
Select item 1082451	NM_000748.3(CHRNB2):c.1488C>T (p.His496=)	CHRNB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1030889	NM_000748.3(CHRNB2):c.845T>A (p.Leu282His)	CHRNB2 (L282H)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 3	GLikely pathogenic
Select item 996914	NM_000748.3(CHRNB2):c.694C>T (p.Arg232Cys)	CHRNB2 (R232C)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 3 +1 more	GUncertain significance
Select item 948517	NM_000748.3(CHRNB2):c.1176C>A (p.Asn392Lys)	CHRNB2 (N392K)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 840970	NM_000748.3(CHRNB2):c.919C>A (p.Leu307Ile)	CHRNB2 (L307I)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 3 +1 more	GUncertain significance
Select item 641814	NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu)	CHRNB2 (R368L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GUncertain significance
Select item 585666	NM_000748.3(CHRNB2):c.515A>G (p.Lys172Arg)	CHRNB2 (K172R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 578261	NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn)	CHRNB2 (S440N)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 543531	NM_000748.3(CHRNB2):c.734del (p.Cys245fs)	CHRNB2 (C245fs)	Deletion (frameshift variant)	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GUncertain significance
Select item 477015	NM_000748.3(CHRNB2):c.772C>T (p.Leu258=)	CHRNB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 430409	NM_000748.3(CHRNB2):c.1338+3G>T	CHRNB2	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 423390	NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu)	CHRNB2 (V431L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 3 +2 more	GUncertain significance
Select item 420432	NM_000748.3(CHRNB2):c.122G>A (p.Arg41His)	CHRNB2 (R41H)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 392288	NM_000748.3(CHRNB2):c.1320C>A (p.Ser440Arg)	CHRNB2 (S440R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 373511	NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser)	CHRNB2 (G125S)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GUncertain significance
Select item 205078	NM_000748.3(CHRNB2):c.1129TTC[1] (p.Phe378del)	CHRNB2 (F378del)	Microsatellite (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 205077	NM_000748.3(CHRNB2):c.360CAA[1] (p.Asn122del)	CHRNB2 (N122del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 205069	NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys)	CHRNB2 (E214K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 205066	NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr)	CHRNB2 (K110T)	Single nucleotide variant (missense variant)	Seizure +6 more	GConflicting classifications of pathogenicity
Select item 205065	NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln)	CHRNB2 (R106Q)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 3 +1 more	GUncertain significance
Select item 205062	NM_000748.3(CHRNB2):c.140G>A (p.Arg47His)	CHRNB2 (R47H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 205060	NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp)	CHRNB2 (G412D)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 197695	NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr)	CHRNB2 (M349T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 191352	NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly)	CHRNB2 (R460G)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GBenign/Likely benign
Select item 158332	NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu)	CHRNB2 (F478L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 3 +4 more	GBenign/Likely benign
Select item 158330	NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His)	CHRNB2 (Q397H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 136770	NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 3 +4 more	GBenign/Likely benign
Select item 17496	NM_000748.3(CHRNB2):c.859G>A (p.Val287Met)	CHRNB2 (V287M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 17495	NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu)	CHRNB2 (V287L)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 34