ClinVar for Gene (Select 1137) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382943	NM_000744.7(CHRNA4):c.487A>G (p.Ile163Val)	CHRNA4 (I163V)	Single nucleotide variant (missense variant +2 more)	Tobacco addiction, susceptibility to +1 more	GUncertain significance
Select item 3381304	NM_000744.7(CHRNA4):c.469T>A (p.Tyr157Asn)	CHRNA4 (Y157N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3373693	NM_000744.7(CHRNA4):c.1048G>A (p.Asp350Asn)	CHRNA4 (D174N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373682	NM_000744.7(CHRNA4):c.1126C>T (p.His376Tyr)	CHRNA4 (H200Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371709	NM_000744.7(CHRNA4):c.619G>A (p.Gly207Ser)	CHRNA4 (G207S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367257	NM_000744.7(CHRNA4):c.40C>T (p.Pro14Ser)	CHRNA4, LOC100130587 (P14S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3364435	NM_000744.7(CHRNA4):c.1619T>C (p.Val540Ala)	CHRNA4 (V364A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361407	NM_000744.7(CHRNA4):c.719G>C (p.Arg240Pro)	CHRNA4 (R240P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360614	NM_000744.7(CHRNA4):c.1657_1659delinsTCA (p.Ala553Ser)	CHRNA4 (A377S +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3336450	NM_000744.7(CHRNA4):c.1343C>T (p.Pro448Leu)	CHRNA4 (P272L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267171	NM_000744.7(CHRNA4):c.1093A>G (p.Lys365Glu)	CHRNA4 (K189E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267170	NM_000744.7(CHRNA4):c.1157C>A (p.Pro386His)	CHRNA4 (P210H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267168	NM_000744.7(CHRNA4):c.1861C>T (p.Pro621Ser)	CHRNA4 (P445S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3255314	NM_000744.7(CHRNA4):c.383+464G>C	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255299	NM_000744.7(CHRNA4):c.383+378A>G	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255233	NM_000744.7(CHRNA4):c.-30C>G	CHRNA4, LOC100130587	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 3252273	NM_000744.7(CHRNA4):c.548C>T (p.Thr183Ile)	CHRNA4 (T183I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3248252	NC_000020.10:g.(?_61978090)_(62073904_?)dup	CHRNA4, KCNQ2	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3248249	NC_000020.10:g.(?_60831241)_(62051045_?)dup	ADRM1, ARFGAP1 +27 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3248248	NC_000020.10:g.(?_61978090)_(62055579_?)dup	CHRNA4, KCNQ2	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3248244	NC_000020.10:g.(?_61978090)_(62062742_?)del	CHRNA4, KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
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 3248230	NC_000020.10:g.(?_61978090)_(62562921_?)del	ABHD16B, ARFRP1 +18 more	Deletion	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +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)	not provided	GUncertain significance
Select item 3042465	NM_000744.7(CHRNA4):c.1728C>T (p.Asp576=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	CHRNA4-related disorder	GLikely benign
Select item 3032993	NM_000744.7(CHRNA4):c.77-8C>T	CHRNA4	Single nucleotide variant (intron variant)	CHRNA4-related disorder	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 +1 more	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 (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 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 (synonymous 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 (synonymous 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 (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
Select item 2857877	NM_000744.7(CHRNA4):c.273+9G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	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

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