ClinVar for MedGen (Select 332082) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688780	NM_000742.4(CHRNA2):c.51G>T (p.Trp17Cys)	CHRNA2 (W17C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2440024	NM_000742.4(CHRNA2):c.15T>A (p.Cys5Ter)	CHRNA2 (C5*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 2234658	NM_000742.4(CHRNA2):c.784C>T (p.Arg262Trp)	CHRNA2 (R247W +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4 +1 more	GUncertain significance
Select item 1710000	NM_000742.4(CHRNA2):c.1465G>T (p.Val489Leu)	CHRNA2 (V291L +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 1213792	NM_000742.4(CHRNA2):c.907G>C (p.Val303Leu)	CHRNA2 (V105L +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 1036915	NM_000742.4(CHRNA2):c.362G>T (p.Arg121Leu)	CHRNA2 (R121L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 4 +1 more	GUncertain significance
Select item 1030885	NM_000742.4(CHRNA2):c.1478G>A (p.Trp493Ter)	CHRNA2 (W334* +3 more)	Single nucleotide variant (nonsense)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 931227	NM_000742.4(CHRNA2):c.1152del (p.Pro385fs)	CHRNA2 (P226fs +3 more)	Deletion (frameshift variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 931191	NM_000742.4(CHRNA2):c.987_990del (p.Glu330fs)	CHRNA2 (E171fs +3 more)	Deletion (frameshift variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 911933	NM_000742.4(CHRNA2):c.1318G>A (p.Gly440Ser)	CHRNA2 (G242S +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4 +1 more	GConflicting classifications of pathogenicity
Select item 911932	NM_000742.4(CHRNA2):c.1464+4C>T	CHRNA2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 911891	NM_000742.4(CHRNA2):c.*1117G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 911890	NM_000742.4(CHRNA2):c.*1265T>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910769	NM_000742.4(CHRNA2):c.404T>G (p.Val135Gly)	CHRNA2 (V120G +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910713	NM_000742.4(CHRNA2):c.*133G>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910712	NM_000742.4(CHRNA2):c.*159G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910711	NM_000742.4(CHRNA2):c.*196G>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910710	NM_000742.4(CHRNA2):c.*348C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910658	NM_000742.4(CHRNA2):c.*1603C>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910657	NM_000742.4(CHRNA2):c.*1667G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 910656	NM_000742.4(CHRNA2):c.*1688G>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910655	NM_000742.4(CHRNA2):c.*1707C>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910654	NM_000742.4(CHRNA2):c.*1707C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910653	NM_000742.4(CHRNA2):c.*1752G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 909874	NM_000742.4(CHRNA2):c.430G>A (p.Asp144Asn)	CHRNA2 (D129N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 909873	NM_000742.4(CHRNA2):c.500C>T (p.Ser167Phe)	CHRNA2 (S167F +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 909808	NM_000742.4(CHRNA2):c.*662T>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 909741	NM_000742.4(CHRNA2):c.*1769C>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 909740	NM_000742.4(CHRNA2):c.*1775C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 909010	NM_000742.4(CHRNA2):c.957G>A (p.Pro319=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 909009	NM_000742.4(CHRNA2):c.1000T>C (p.Phe334Leu)	CHRNA2 (F136L +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 909008	NM_000742.4(CHRNA2):c.1103G>T (p.Gly368Val)	CHRNA2 (G368V +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 908947	NM_000742.4(CHRNA2):c.*1090C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 857708	NM_000742.4(CHRNA2):c.1465-3C>T	CHRNA2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 846007	NM_000742.4(CHRNA2):c.1275T>A (p.Cys425Ter)	CHRNA2 (C266* +3 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GUncertain significance
Select item 840293	NM_000742.4(CHRNA2):c.883G>A (p.Glu295Lys)	CHRNA2 (E280K +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 800756	NM_000742.4(CHRNA2):c.1460C>T (p.Ser487Phe)	CHRNA2 (S472F +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 670757	NM_000742.4(CHRNA2):c.450-87C>G	CHRNA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 655142	NM_000742.4(CHRNA2):c.91C>T (p.Arg31Cys)	CHRNA2 (R31C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 641342	NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter)	CHRNA2 (E437* +3 more)	Single nucleotide variant (nonsense)	Autosomal dominant nocturnal frontal lobe epilepsy 4 +1 more	GUncertain significance
Select item 627592	NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr)	CHRNA2 (S320Y +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4 +2 more	GUncertain significance
Select item 625918	NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly)	CHRNA2 (V473G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 587981	NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs)	CHRNA2 (A171fs +3 more)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 575518	NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser)	CHRNA2 (N351S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 545945	NM_000742.4(CHRNA2):c.1393del (p.His465fs)	CHRNA2 (H465fs +3 more)	Deletion (frameshift variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 543534	NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg)	CHRNA2 (W506R +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GUncertain significance
Select item 543518	NM_000742.4(CHRNA2):c.810C>G (p.Ile270Met)	CHRNA2 (I270M +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 522582	NM_000742.4(CHRNA2):c.889A>T (p.Ile297Phe)	CHRNA2 (I297F +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GPathogenic
Select item 450186	NM_000742.4(CHRNA2):c.294+5G>A	CHRNA2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 422890	NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His)	CHRNA2 (R394H +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 392001	NM_000742.4(CHRNA2):c.869C>T (p.Pro290Leu)	CHRNA2 (P290L +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4 +3 more	GConflicting classifications of pathogenicity
Select item 362717	NM_000742.4(CHRNA2):c.-565T>A	CHRNA2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362716	NM_000742.4(CHRNA2):c.-563T>A	CHRNA2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4 +1 more	GBenign
Select item 362714	NM_000742.4(CHRNA2):c.-561A>T	CHRNA2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362712	NM_000742.4(CHRNA2):c.-544C>T	CHRNA2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362711	NM_000742.4(CHRNA2):c.-537C>T	CHRNA2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362710	NM_000742.4(CHRNA2):c.-471G>A	CHRNA2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362709	NM_000742.4(CHRNA2):c.-448G>A	CHRNA2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362708	NM_000742.4(CHRNA2):c.-447T>A	CHRNA2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362707	NM_000742.4(CHRNA2):c.-424C>T	CHRNA2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362706	NM_000742.4(CHRNA2):c.-422G>A	CHRNA2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362705	NM_000742.4(CHRNA2):c.-379T>C	CHRNA2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 362704	NM_000742.4(CHRNA2):c.-312G>T	CHRNA2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362703	NM_000742.4(CHRNA2):c.-137+11T>C	CHRNA2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362702	NM_000742.4(CHRNA2):c.-136-14T>C	CHRNA2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362701	NM_000742.4(CHRNA2):c.-133C>T	CHRNA2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362700	NM_000742.4(CHRNA2):c.-78C>G	CHRNA2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362699	NM_000742.4(CHRNA2):c.45C>T (p.Ser15=)	CHRNA2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GBenign/Likely benign
Select item 362698	NM_000742.4(CHRNA2):c.203G>C (p.Arg68Pro)	CHRNA2 (R68P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 4 +1 more	GConflicting classifications of pathogenicity
Select item 362697	NM_000742.4(CHRNA2):c.260G>A (p.Arg87His)	CHRNA2 (R87H)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362696	NM_000742.4(CHRNA2):c.339+10C>A	CHRNA2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4 +1 more	GConflicting classifications of pathogenicity
Select item 362695	NM_000742.4(CHRNA2):c.1099C>T (p.Arg367Trp)	CHRNA2 (R367W +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 362694	NM_000742.4(CHRNA2):c.1163A>G (p.Glu388Gly)	CHRNA2 (E388G +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362693	NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy +4 more	GConflicting classifications of pathogenicity
Select item 362692	NM_000742.4(CHRNA2):c.*29G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362691	NM_000742.4(CHRNA2):c.*108C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 362690	NM_000742.4(CHRNA2):c.*285G>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 362689	NM_000742.4(CHRNA2):c.*384G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362688	NM_000742.4(CHRNA2):c.*386G>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362687	NM_000742.4(CHRNA2):c.*479G>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362686	NM_000742.4(CHRNA2):c.*511G>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362685	NM_000742.4(CHRNA2):c.*602T>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362684	NM_000742.4(CHRNA2):c.*623G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362683	NM_000742.4(CHRNA2):c.*721G>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362682	NM_000742.4(CHRNA2):c.*755G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362681	NM_000742.4(CHRNA2):c.*771C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362680	NM_000742.4(CHRNA2):c.*892T>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362679	NM_000742.4(CHRNA2):c.*936C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362678	NM_000742.4(CHRNA2):c.*997C>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362677	NM_000742.4(CHRNA2):c.*1003G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362676	NM_000742.4(CHRNA2):c.*1006G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362674	NM_000742.4(CHRNA2):c.*1096C>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362673	NM_000742.4(CHRNA2):c.*1159T>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362671	NM_000742.4(CHRNA2):c.*1384C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362670	NM_000742.4(CHRNA2):c.*1392A>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362669	NM_000742.4(CHRNA2):c.*1395C>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362668	NM_000742.4(CHRNA2):c.*1403C>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362667	NM_000742.4(CHRNA2):c.*1446A>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362666	NM_000742.4(CHRNA2):c.*1480C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362665	NM_000742.4(CHRNA2):c.*1701C>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign

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