ClinVar for Gene (Select 1137) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	EDN3, EEF1A2 +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3144623	NM_000744.7(CHRNA4):c.709T>C (p.Phe237Leu)	CHRNA4 (F237L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144621	NM_000744.7(CHRNA4):c.1100A>G (p.Asn367Ser)	CHRNA4 (N367S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062407	GRCh37/hg19 20q13.33(chr20:61716119-62416074)x1	ARFGAP1, ARFRP1 +22 more	Copy number loss	not specified	GPathogenic
Select item 3062404	GRCh37/hg19 20q13.33(chr20:61975395-62102475)x3	CHRNA4, KCNQ2	Copy number gain	not specified	GUncertain significance
Select item 3062402	GRCh37/hg19 20q13.33(chr20:61421505-62070966)x1	ARFGAP1, BHLHE23 +15 more	Copy number loss	not specified	GPathogenic
Select item 3050602	NM_000744.7(CHRNA4):c.1801A>G (p.Ile601Val)	CHRNA4 (I425V +1 more)	Single nucleotide variant (missense variant +1 more)	CHRNA4-related condition	GUncertain significance
Select item 3042465	NM_000744.7(CHRNA4):c.1728C>T (p.Asp576=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	CHRNA4-related condition	GLikely benign
Select item 3032993	NM_000744.7(CHRNA4):c.77-8C>T	CHRNA4	Single nucleotide variant (intron variant)	CHRNA4-related condition	GLikely benign
Select item 3027137	NM_000744.7(CHRNA4):c.939C>T (p.Thr313=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 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 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 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 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 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 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 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 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 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 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	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 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 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 2904335	NM_000744.7(CHRNA4):c.341C>T (p.Pro114Leu)	CHRNA4, LOC126863087 (P114L)	Single nucleotide variant (5 prime UTR 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 (5 prime UTR variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
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 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 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 2872750	NM_000744.7(CHRNA4):c.72G>A (p.Leu24=)	CHRNA4, LOC100130587	Single nucleotide variant (non-coding transcript variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
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 2863745	NM_000744.7(CHRNA4):c.33G>C (p.Leu11=)	CHRNA4, LOC100130587	Single nucleotide variant (intron variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2859958	NM_000744.7(CHRNA4):c.87T>C (p.His29=)	CHRNA4	Single nucleotide variant (synonymous 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 (non-coding transcript variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2857877	NM_000744.7(CHRNA4):c.273+9G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	CHRNA4-related condition +1 more	GLikely benign
Select item 2856233	NM_000744.7(CHRNA4):c.634G>A (p.Val212Met)	CHRNA4 (V212M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2854048	NM_000744.7(CHRNA4):c.1855C>T (p.Leu619=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2853339	NM_000744.7(CHRNA4):c.1188C>A (p.Ser396Arg)	CHRNA4 (S220R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2851392	NM_000744.7(CHRNA4):c.1622C>T (p.Ser541Phe)	CHRNA4 (S541F +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2848616	NM_000744.7(CHRNA4):c.1547A>G (p.His516Arg)	CHRNA4 (H340R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2838974	NM_000744.7(CHRNA4):c.21A>C (p.Gly7=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2838702	NM_000744.7(CHRNA4):c.1620G>A (p.Val540=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2838407	NM_000744.7(CHRNA4):c.940A>T (p.Met314Leu)	CHRNA4 (M138L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2837406	NM_000744.7(CHRNA4):c.613G>A (p.Glu205Lys)	CHRNA4 (E205K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2834916	NM_000744.7(CHRNA4):c.1415C>G (p.Ser472Cys)	CHRNA4 (S472C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2828131	NM_000744.7(CHRNA4):c.802C>T (p.Pro268Ser)	CHRNA4 (P92S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2825891	NM_000744.7(CHRNA4):c.383+3G>A	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2824842	NM_000744.7(CHRNA4):c.123G>C (p.Leu41=)	CHRNA4	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2823054	NM_000744.7(CHRNA4):c.384-5C>T	CHRNA4	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2821930	NM_000744.7(CHRNA4):c.1864T>C (p.Trp622Arg)	CHRNA4 (W446R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2821590	NM_000744.7(CHRNA4):c.28_29delinsTT (p.Arg10Leu)	CHRNA4, LOC100130587 (R10L)	Indel (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2820564	NM_000744.7(CHRNA4):c.184G>A (p.Val62Ile)	CHRNA4 (V62I)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2815640	NM_000744.7(CHRNA4):c.227T>G (p.Val76Gly)	CHRNA4 (V76G)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2813772	NM_000744.7(CHRNA4):c.252C>T (p.Thr84=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2809844	NM_000744.7(CHRNA4):c.1777T>G (p.Tyr593Asp)	CHRNA4 (Y593D +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2809443	NM_000744.7(CHRNA4):c.1422T>C (p.Pro474=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2808970	NM_000744.7(CHRNA4):c.77-16C>G	CHRNA4	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2807029	NM_000744.7(CHRNA4):c.27_28delinsAG (p.Arg10Gly)	CHRNA4, LOC100130587 (R10G)	Indel (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2804674	NM_000744.7(CHRNA4):c.1372C>T (p.Pro458Ser)	CHRNA4 (P282S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2799373	NM_000744.7(CHRNA4):c.162C>G (p.Pro54=)	CHRNA4	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2798834	NM_000744.7(CHRNA4):c.76+12G>C	CHRNA4, LOC100130587	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2797103	NM_000744.7(CHRNA4):c.295C>T (p.Arg99Cys)	LOC126863087, CHRNA4 (R99C)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2788449	NM_000744.7(CHRNA4):c.771C>G (p.Ile257Met)	CHRNA4 (I257M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2787681	NM_000744.7(CHRNA4):c.19G>A (p.Gly7Arg)	CHRNA4, LOC100130587 (G7R)	Single nucleotide variant (non-coding transcript variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2783665	NM_000744.7(CHRNA4):c.25C>T (p.Pro9Ser)	CHRNA4, LOC100130587 (P9S)	Single nucleotide variant (non-coding transcript variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2775721	NM_000744.7(CHRNA4):c.38C>T (p.Pro13Leu)	CHRNA4, LOC100130587 (P13L)	Single nucleotide variant (non-coding transcript variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2775612	NM_000744.7(CHRNA4):c.1025C>T (p.Thr342Ile)	CHRNA4 (T166I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2772627	NM_000744.7(CHRNA4):c.1758+1G>T	CHRNA4	Single nucleotide variant (splice donor variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2772196	NM_000744.7(CHRNA4):c.1542C>G (p.Asn514Lys)	CHRNA4 (N514K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2767697	NM_000744.7(CHRNA4):c.1692G>C (p.Leu564=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2765814	NM_000744.7(CHRNA4):c.810G>T (p.Glu270Asp)	CHRNA4 (E94D +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2763198	NM_000744.7(CHRNA4):c.42G>C (p.Pro14=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2761714	NM_000744.7(CHRNA4):c.1305G>A (p.Leu435=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2758299	NM_000744.7(CHRNA4):c.973G>A (p.Val325Ile)	CHRNA4 (V325I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2752874	NM_000744.7(CHRNA4):c.335G>A (p.Arg112His)	CHRNA4, LOC126863087 (R112H)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2752438	NM_000744.7(CHRNA4):c.274-3C>T	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2749398	NM_000744.7(CHRNA4):c.380A>G (p.Asn127Ser)	CHRNA4, LOC126863087 (N127S)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2748624	NM_000744.7(CHRNA4):c.1320C>T (p.Ala440=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2744892	NM_000744.7(CHRNA4):c.207C>G (p.Ser69=)	CHRNA4	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2743190	NM_000744.7(CHRNA4):c.76+9C>G	CHRNA4, LOC100130587	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2742584	NM_000744.7(CHRNA4):c.315T>C (p.Tyr105=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2742580	NM_000744.7(CHRNA4):c.1216C>T (p.Pro406Ser)	CHRNA4 (P230S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2742286	NM_000744.7(CHRNA4):c.419A>G (p.Lys140Arg)	CHRNA4 (K140R)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2741964	NM_000744.7(CHRNA4):c.471C>T (p.Tyr157=)	CHRNA4	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign

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