ClinVar for Gene (Select 1136) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 118

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352903	NM_000743.5(CHRNA3):c.49CTG[5] (p.Leu22_Leu23del)	CHRNA3	Microsatellite (inframe_deletion +1 more)	CHRNA3-related disorder	GLikely benign
Select item 3346750	NM_000743.5(CHRNA3):c.518dup (p.Cys173fs)	CHRNA3 (C173fs)	Duplication (frameshift variant +1 more)	CHRNA3-related disorder	GLikely pathogenic
Select item 3267172	NM_000745.4(CHRNA5):c.1389T>G (p.Ile463Met)	CHRNA3, CHRNA5 (I245M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267167	NM_000743.5(CHRNA3):c.697T>C (p.Tyr233His)	CHRNA3 (Y233H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267166	NM_000743.5(CHRNA3):c.1150A>G (p.Ser384Gly)	CHRNA3 (S384G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144620	NM_000743.5(CHRNA3):c.577G>A (p.Gly193Ser)	CHRNA3 (G193S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144619	NM_000743.5(CHRNA3):c.299C>T (p.Pro100Leu)	CHRNA3 (P100L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144618	NM_000743.5(CHRNA3):c.283A>G (p.Lys95Glu)	CHRNA3 (K95E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063387	GRCh37/hg19 15q25.1(chr15:78854250-79045089)x3	CHRNA3, CHRNA5 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063380	GRCh37/hg19 15q25.1(chr15:78854250-79085390)x3	ADAMTS7, CHRNA3 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3017262	NM_000743.5(CHRNA3):c.1332C>T (p.Ala444=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889697	NM_000743.5(CHRNA3):c.972C>T (p.Phe324=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2882746	NM_000743.5(CHRNA3):c.867G>A (p.Val289=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871104	NM_000743.5(CHRNA3):c.807C>T (p.Cys269=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2785900	NM_000743.5(CHRNA3):c.378-18C>A	CHRNA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782187	NM_000743.5(CHRNA3):c.231A>T (p.Val77=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2724249	NM_000743.5(CHRNA3):c.1383C>T (p.Ala461=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2707299	NM_000743.5(CHRNA3):c.87C>T (p.Ala29=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645612	NM_000743.5(CHRNA3):c.936G>A (p.Met312Ile)	CHRNA3 (M312I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2616568	NM_000743.5(CHRNA3):c.1430G>A (p.Arg477His)	CHRNA3 (R477H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2598899	NM_000745.4(CHRNA5):c.1312G>C (p.Val438Leu)	CHRNA3, CHRNA5 (V220L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2537957	NM_000743.5(CHRNA3):c.1097C>T (p.Ala366Val)	CHRNA3 (A366V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2494481	NM_000743.5(CHRNA3):c.653A>T (p.Asp218Val)	CHRNA3 (D218V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2431164	NM_000745.4(CHRNA5):c.*747T>C	CHRNA3, CHRNA5	Single nucleotide variant (non-coding transcript variant +2 more)	Squamous cell carcinoma	GUncertain significance
Select item 2431162	NM_001166694.2(CHRNA3):c.1390-614A>G	CHRNA3, CHRNA5	Single nucleotide variant (3 prime UTR variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 2431112	NM_000743.5(CHRNA3):c.267+14C>T	CHRNA3	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431100	NM_000743.5(CHRNA3):c.378-230_378-229inv	CHRNA3	Inversion (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2428312	NM_000743.5(CHRNA3):c.1107G>A (p.Pro369=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2425995	NC_000015.9:g.(?_78857986)_(81282132_?)dup	ABHD17C, ADAMTS7 +19 more	Duplication	not provided	GUncertain significance
Select item 2402975	NM_000743.5(CHRNA3):c.151C>T (p.Arg51Trp)	CHRNA3 (R51W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398068	NM_000743.5(CHRNA3):c.1090G>C (p.Gly364Arg)	CHRNA3 (G364R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326851	NM_000743.5(CHRNA3):c.1057G>A (p.Val353Ile)	CHRNA3 (V353I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318093	NM_000743.5(CHRNA3):c.1493C>T (p.Pro498Leu)	CHRNA3 (P498L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2304521	NM_000743.5(CHRNA3):c.1429C>A (p.Arg477Ser)	CHRNA3 (R477S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2259319	NM_000743.5(CHRNA3):c.958G>A (p.Val320Ile)	CHRNA3 (V320I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239591	NM_000743.5(CHRNA3):c.1478G>C (p.Gly493Ala)	CHRNA3 (G493A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2209699	NM_000743.5(CHRNA3):c.1169G>C (p.Gly390Ala)	CHRNA3 (G390A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2192524	NM_000743.5(CHRNA3):c.1488G>A (p.Leu496=)	CHRNA3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2191403	NM_000743.5(CHRNA3):c.198G>A (p.Val66=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2183742	NM_000743.5(CHRNA3):c.1347G>A (p.Lys449=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2183741	NM_000743.5(CHRNA3):c.1351_1353del (p.Ile451del)	CHRNA3 (I451del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2182780	NM_000743.5(CHRNA3):c.1352T>C (p.Ile451Thr)	CHRNA3 (I451T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2171051	NM_000743.5(CHRNA3):c.999G>A (p.Pro333=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2159894	NM_000743.5(CHRNA3):c.471C>T (p.Ser157=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2143410	NM_000743.5(CHRNA3):c.377+1334T>C	CHRNA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2142927	NM_000743.5(CHRNA3):c.1001C>A (p.Thr334Lys)	CHRNA3 (T334K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2133189	NM_000743.5(CHRNA3):c.1459T>A (p.Cys487Ser)	CHRNA3 (C487S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2123513	NM_000743.5(CHRNA3):c.345G>A (p.Lys115=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2083191	NM_000743.5(CHRNA3):c.1259C>T (p.Thr420Met)	CHRNA3 (T420M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2082751	NM_000743.5(CHRNA3):c.554C>T (p.Ala185Val)	CHRNA3 (A185V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072160	NM_000743.5(CHRNA3):c.954C>T (p.Ser318=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2066696	NM_000743.5(CHRNA3):c.1163C>T (p.Ser388Phe)	CHRNA3 (S388F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2064803	NM_000743.5(CHRNA3):c.576C>T (p.Ile192=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2043683	NM_000743.5(CHRNA3):c.649C>T (p.His217Tyr)	CHRNA3 (H217Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2039314	NM_000743.5(CHRNA3):c.377+8G>C	CHRNA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2023242	NM_000743.5(CHRNA3):c.1390-22_1390-18del	CHRNA3	Deletion (intron variant)	not provided	GLikely benign
Select item 2020686	NM_000743.5(CHRNA3):c.110G>A (p.Arg37His)	CHRNA3 (R37H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1980962	NM_000743.5(CHRNA3):c.957C>T (p.Ile319=)	CHRNA3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1978730	NM_000743.5(CHRNA3):c.50T>G (p.Leu17Arg)	CHRNA3 (L17R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1977552	NM_000743.5(CHRNA3):c.615C>T (p.Gly205=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1974556	NM_000743.5(CHRNA3):c.763A>G (p.Ile255Val)	CHRNA3 (I255V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1971462	NM_000743.5(CHRNA3):c.49CTG[9] (p.Leu23_Ser24insLeuLeu)	CHRNA3	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1971188	NM_000743.5(CHRNA3):c.1390-21_1390-18del	CHRNA3	Deletion (intron variant)	not provided	GBenign
Select item 1971109	NM_000743.5(CHRNA3):c.223-14A>G	CHRNA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971011	NM_000743.5(CHRNA3):c.1495del (p.Pro498_Leu499insTer)	CHRNA3	Deletion (nonsense +2 more)	not provided	GUncertain significance
Select item 1971005	NM_000743.5(CHRNA3):c.49CTG[8] (p.Leu23_Ser24insLeu)	CHRNA3	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 1924840	NM_000743.5(CHRNA3):c.6C>T (p.Gly2=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1921837	NM_000743.5(CHRNA3):c.82+11A>G	CHRNA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1801723	NM_000743.5(CHRNA3):c.518_519del (p.Cys173fs)	CHRNA3 (C173fs)	Deletion (frameshift variant +1 more)	Urinary bladder, atony of	GPathogenic
Select item 1209769	NM_000743.5(CHRNA3):c.268-64C>A	CHRNA3	Single nucleotide variant (intron variant)	Urinary bladder, atony of +1 more	GBenign
Select item 1209768	NM_000743.5(CHRNA3):c.268-5C>T	CHRNA3	Single nucleotide variant (intron variant)	Urinary bladder, atony of +1 more	GBenign
Select item 1209767	NM_000743.5(CHRNA3):c.291A>G (p.Lys97=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	Urinary bladder, atony of +1 more	GBenign
Select item 1209690	NM_000743.5(CHRNA3):c.49CTG[6] (p.Leu23del)	CHRNA3 (L23del)	Microsatellite (inframe_deletion +1 more)	Urinary bladder, atony of +1 more	GBenign
Select item 1209689	NM_000743.5(CHRNA3):c.83-4A>G	CHRNA3	Single nucleotide variant (intron variant)	Urinary bladder, atony of +1 more	GBenign
Select item 1209688	NM_000743.5(CHRNA3):c.159A>G (p.Val53=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	Urinary bladder, atony of +1 more	GBenign
Select item 1179064	NM_000743.5(CHRNA3):c.1099C>T (p.Gln367Ter)	CHRNA3 (Q367*)	Single nucleotide variant (nonsense +1 more)	Urinary bladder, atony of +1 more	GLikely pathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 873311	NM_000743.5(CHRNA3):c.1A>G (p.Met1Val)	CHRNA3 (M1V)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 873310	NM_000743.5(CHRNA3):c.247_248insG (p.Thr83fs)	CHRNA3 (T83fs)	Insertion (frameshift variant +1 more)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 873309	NM_000743.5(CHRNA3):c.708_709insG (p.Ile237fs)	CHRNA3 (I237fs)	Insertion (frameshift variant +1 more)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 873308	NM_000743.5(CHRNA3):c.725del (p.Leu242fs)	CHRNA3 (L242fs)	Deletion (frameshift variant +1 more)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 873307	NM_000743.5(CHRNA3):c.752C>G (p.Pro251Arg)	CHRNA3 (P251R)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 805849	NM_000743.5(CHRNA3):c.267+2T>G	CHRNA3	Single nucleotide variant (splice donor variant)	Urinary bladder, atony of	GPathogenic
Select item 805848	NM_000743.5(CHRNA3):c.1019C>G (p.Ser340Ter)	CHRNA3 (S340*)	Single nucleotide variant (nonsense +1 more)	Urinary bladder, atony of	GPathogenic
Select item 805847	NM_000743.5(CHRNA3):c.1010_1011del (p.Thr337fs)	CHRNA3 (T337fs)	Microsatellite (frameshift variant +1 more)	Urinary bladder, atony of	GPathogenic
Select item 804256	NM_000743.5(CHRNA3):c.688G>A (p.Asp230Asn)	CHRNA3 (D230N)	Single nucleotide variant (missense variant +1 more)	CHRNA3-related disorder	GUncertain significance
Select item 779961	NM_000743.5(CHRNA3):c.1120G>A (p.Gly374Ser)	CHRNA3 (G374S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 779448	NM_000743.5(CHRNA3):c.627C>A (p.Ile209=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 745151	NM_000743.5(CHRNA3):c.459C>T (p.Ala153=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	Urinary bladder, atony of +2 more	GLikely benign
Select item 744597	NM_000743.5(CHRNA3):c.268-4C>G	CHRNA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 744231	NM_000743.5(CHRNA3):c.1113C>G (p.Pro371=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 740086	NM_000743.5(CHRNA3):c.981C>T (p.Asn327=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 736331	NM_000743.5(CHRNA3):c.1243T>G (p.Phe415Val)	CHRNA3 (F415V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 727006	NM_000743.5(CHRNA3):c.1112C>T (p.Pro371Leu)	CHRNA3 (P371L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 722731	NM_000743.5(CHRNA3):c.564T>C (p.Asp188=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	Urinary bladder, atony of +2 more	GBenign/Likely benign
Select item 722730	NM_000743.5(CHRNA3):c.1197C>T (p.Asp399=)	CHRNA3	Single nucleotide variant (synonymous variant +1 more)	Urinary bladder, atony of +2 more	GBenign/Likely benign
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2