ClinVar for MedGen (Select 777188) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248318	NC_000020.10:g.(?_61980985)_(62046499_?)del	CHRNA4, KCNQ2	Deletion	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3248317	NC_000020.10:g.(?_61990880)_(62680869_?)del	ABHD16B, ARFRP1 +23 more	Deletion	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3248232	NC_000020.10:g.(?_61978090)_(62562921_?)dup	ABHD16B, ARFRP1 +18 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GUncertain significance
Select item 3247865	NC_000001.10:g.(?_154540521)_(154580482_?)del	ADAR, CHRNB2	Deletion	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3245543	NC_000008.10:g.(?_27319146)_(27328575_?)dup	CHRNA2	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3022665	NM_000744.7(CHRNA4):c.732C>G (p.Leu244=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 3021621	NM_000748.3(CHRNB2):c.256-15T>C	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 3020828	NM_000748.3(CHRNB2):c.918G>A (p.Val306=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 3020174	NM_000744.7(CHRNA4):c.27G>A (p.Pro9=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 3015399	NM_000744.7(CHRNA4):c.647G>C (p.Gly216Ala)	CHRNA4 (G216A +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3014846	NM_000744.7(CHRNA4):c.804C>T (p.Pro268=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 3011562	NM_000744.7(CHRNA4):c.1762_1764del (p.Lys588del)	CHRNA4 (K412del +1 more)	Deletion (inframe_deletion +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3008880	NM_000742.4(CHRNA2):c.361C>T (p.Arg121Cys)	CHRNA2 (R121C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 3008609	NM_000748.3(CHRNB2):c.1439_1441del (p.Gln480del)	CHRNB2 (Q480del)	Deletion (inframe_deletion)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3005865	NM_000742.4(CHRNA2):c.633C>T (p.Ile211=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 3004705	NM_000744.7(CHRNA4):c.1638C>G (p.Val546=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 3003354	NM_000742.4(CHRNA2):c.1441C>A (p.Arg481=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 3002966	NM_000742.4(CHRNA2):c.338A>C (p.Gln113Pro)	CHRNA2 (Q113P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3001751	NM_000748.3(CHRNB2):c.64+3A>G	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3001481	NM_000742.4(CHRNA2):c.894G>C (p.Thr298=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2995977	NM_000748.3(CHRNB2):c.1210G>C (p.Gly404Arg)	CHRNB2 (G404R)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2991379	NM_000744.7(CHRNA4):c.1285C>T (p.Leu429Phe)	CHRNA4 (L253F +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2991342	NM_000742.4(CHRNA2):c.953T>A (p.Ile318Asn)	CHRNA2 (I120N +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2991327	NM_000744.7(CHRNA4):c.15C>T (p.Gly5=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2990520	NM_000748.3(CHRNB2):c.885G>A (p.Pro295=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2988168	NM_000744.7(CHRNA4):c.177G>C (p.Ser59=)	CHRNA4	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2983154	NM_000742.4(CHRNA2):c.450-15C>A	CHRNA2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2978916	NM_000744.7(CHRNA4):c.1201C>T (p.Leu401=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2976612	NM_000748.3(CHRNB2):c.365+13G>A	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2972146	NM_000744.7(CHRNA4):c.505C>T (p.Pro169Ser)	CHRNA4 (P169S)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2969842	NM_000744.7(CHRNA4):c.808G>C (p.Glu270Gln)	CHRNA4 (E94Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2968873	NM_000748.3(CHRNB2):c.1341G>T (p.Val447=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2968070	NM_000744.7(CHRNA4):c.775_840dup (p.Ser280_Val281insCysLeuThrValLeuValPheTyrLeuProSerGluCysGlyGluLysIleThrLeuCysIleSer)	CHRNA4	Duplication (inframe_insertion +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2967610	NM_000748.3(CHRNB2):c.60C>T (p.Cys20=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2966796	NM_000748.3(CHRNB2):c.1215T>C (p.Ala405=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2964766	NM_000748.3(CHRNB2):c.54G>A (p.Arg18=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2962967	NM_000744.7(CHRNA4):c.1090G>A (p.Val364Ile)	CHRNA4 (V188I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2962571	NM_000744.7(CHRNA4):c.538G>A (p.Gly180Ser)	CHRNA4 (G4S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2961457	NM_000748.3(CHRNB2):c.1343G>C (p.Ser448Thr)	CHRNB2 (S448T)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2959786	NM_000742.4(CHRNA2):c.788G>C (p.Arg263Pro)	CHRNA2 (R248P +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2959016	NM_000742.4(CHRNA2):c.370C>A (p.Pro124Thr)	CHRNA2 (P109T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2958102	NM_000744.7(CHRNA4):c.1400G>A (p.Ser467Asn)	CHRNA4 (S291N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2955891	NM_000744.7(CHRNA4):c.580A>G (p.Met194Val)	CHRNA4 (M194V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2919633	NM_000744.7(CHRNA4):c.1051A>G (p.Ile351Val)	CHRNA4 (I175V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2919537	NM_000744.7(CHRNA4):c.1206C>A (p.His402Gln)	CHRNA4 (H402Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2919069	NM_000744.7(CHRNA4):c.891G>A (p.Pro297=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2918244	NM_000742.4(CHRNA2):c.1465-6C>A	CHRNA2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2918102	NM_000748.3(CHRNB2):c.333C>T (p.His111=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2917952	NM_000748.3(CHRNB2):c.626C>T (p.Pro209Leu)	CHRNB2 (P209L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2917401	NM_000744.7(CHRNA4):c.431T>G (p.Phe144Cys)	CHRNA4 (F144C)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2916825	NM_000744.7(CHRNA4):c.139G>A (p.Gly47Ser)	CHRNA4 (G47S)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2916446	NM_000744.7(CHRNA4):c.890C>T (p.Pro297Leu)	CHRNA4 (P121L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 2915460	NM_000742.4(CHRNA2):c.437T>C (p.Val146Ala)	CHRNA2 (V146A +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2913984	NM_000744.7(CHRNA4):c.228+8A>T	CHRNA4	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2913529	NM_000742.4(CHRNA2):c.339+5G>C	CHRNA2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2913479	NM_000744.7(CHRNA4):c.1489G>A (p.Asp497Asn)	CHRNA4 (D497N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2913306	NM_000748.3(CHRNB2):c.1102C>G (p.Arg368Gly)	CHRNB2 (R368G)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2913280	NM_000744.7(CHRNA4):c.1668G>A (p.Pro556=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2913124	NM_000748.3(CHRNB2):c.321C>T (p.Leu107=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2912564	NM_000742.4(CHRNA2):c.978G>A (p.Pro326=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2910933	NM_000742.4(CHRNA2):c.1259del (p.Glu420fs)	CHRNA2 (E405fs +3 more)	Deletion (frameshift variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2905840	NM_000748.3(CHRNB2):c.1474C>T (p.Leu492Phe)	CHRNB2 (L492F)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2904335	NM_000744.7(CHRNA4):c.341C>T (p.Pro114Leu)	CHRNA4, LOC126863087 (P114L)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2897992	NM_000744.7(CHRNA4):c.1038G>A (p.Arg346=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2896554	NM_000744.7(CHRNA4):c.183_195dup (p.Phe66fs)	CHRNA4 (F66fs)	Duplication (frameshift variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2893460	NM_000748.3(CHRNB2):c.10C>A (p.Arg4Ser)	CHRNB2, LOC129931511 (R4S)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2893061	NM_000742.4(CHRNA2):c.556G>A (p.Asp186Asn)	CHRNA2 (D171N +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2891650	NM_000742.4(CHRNA2):c.450-1G>T	CHRNA2	Single nucleotide variant (intron variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2891283	NM_000742.4(CHRNA2):c.92G>A (p.Arg31His)	CHRNA2 (R31H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2887863	NM_000742.4(CHRNA2):c.1243G>A (p.Val415Met)	CHRNA2 (V217M +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2886913	NM_000748.3(CHRNB2):c.756C>T (p.Ala252=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2885138	NM_000742.4(CHRNA2):c.559G>A (p.Val187Ile)	CHRNA2 (V187I +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2884166	NM_000744.7(CHRNA4):c.1545C>T (p.Thr515=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2883096	NM_000748.3(CHRNB2):c.911C>T (p.Thr304Ile)	CHRNB2 (T304I)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2880003	NM_000748.3(CHRNB2):c.1438C>T (p.Gln480Ter)	CHRNB2 (Q480*)	Single nucleotide variant (nonsense)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2879321	NM_000748.3(CHRNB2):c.1458C>T (p.Tyr486=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2878960	NM_000742.4(CHRNA2):c.295-8del	CHRNA2	Deletion (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2878908	NM_000744.7(CHRNA4):c.979G>C (p.Val327Leu)	CHRNA4 (V151L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2877118	NM_000748.3(CHRNB2):c.64+17C>T	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2876741	NM_000744.7(CHRNA4):c.792C>G (p.Val264=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2876030	NM_000744.7(CHRNA4):c.20G>A (p.Gly7Glu)	CHRNA4, LOC100130587 (G7E)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2875367	NM_000744.7(CHRNA4):c.389A>G (p.Asp130Gly)	CHRNA4 (D130G)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2875234	NM_000744.7(CHRNA4):c.1586G>A (p.Cys529Tyr)	CHRNA4 (C529Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2874233	NM_000748.3(CHRNB2):c.984G>C (p.Thr328=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2873855	NM_000742.4(CHRNA2):c.603_616del (p.Phe201fs)	CHRNA2 (F186fs +3 more)	Deletion (frameshift variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2873175	NM_000748.3(CHRNB2):c.1185G>C (p.Ser395=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2872750	NM_000744.7(CHRNA4):c.72G>A (p.Leu24=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2869626	NM_000748.3(CHRNB2):c.884C>T (p.Pro295Leu)	CHRNB2 (P295L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2868401	NM_000742.4(CHRNA2):c.257T>A (p.Val86Glu)	CHRNA2 (V86E)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2867103	NM_000742.4(CHRNA2):c.1460C>G (p.Ser487Cys)	CHRNA2 (S289C +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2867095	NM_000742.4(CHRNA2):c.288C>G (p.Ile96Met)	CHRNA2 (I96M)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2867087	NM_000748.3(CHRNB2):c.1094G>T (p.Arg365Leu)	CHRNB2 (R365L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2866518	NM_000744.7(CHRNA4):c.819G>A (p.Glu273=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2864819	NM_000748.3(CHRNB2):c.1487A>C (p.His496Pro)	CHRNB2 (H496P)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2864632	NM_000748.3(CHRNB2):c.1426G>A (p.Gly476Ser)	CHRNB2 (G476S)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2863745	NM_000744.7(CHRNA4):c.33G>C (p.Leu11=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2863154	NM_000748.3(CHRNB2):c.50T>A (p.Leu17His)	CHRNB2 (L17H)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2861897	NM_000742.4(CHRNA2):c.413_422del (p.Glu138fs)	CHRNA2 (E138fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2859958	NM_000744.7(CHRNA4):c.87T>C (p.His29=)	CHRNA4	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2858921	NM_000744.7(CHRNA4):c.74G>A (p.Arg25His)	CHRNA4, LOC100130587 (R25H)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance

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