8913[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 1271024	NM_018896.5(CACNA1G):c.-606G>A	CACNA1G, CACNA1G-AS1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2573936	NM_018896.5(CACNA1G):c.9GGA[2] (p.Glu5del)	CACNA1G, CACNA1G-AS1 (E5del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2859370	NM_018896.5(CACNA1G):c.13G>C (p.Glu5Gln)	CACNA1G, CACNA1G-AS1 (E5Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365562	NM_018896.5(CACNA1G):c.27C>G (p.Gly9=)	CACNA1G, CACNA1G-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3262767	NM_018896.5(CACNA1G):c.49C>G (p.Arg17Gly)	CACNA1G, CACNA1G-AS1 (R17G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1712620	NM_018896.5(CACNA1G):c.59T>C (p.Met20Thr)	CACNA1G-AS1, CACNA1G (M20T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2595947	NM_018896.5(CACNA1G):c.68A>C (p.Asn23Thr)	CACNA1G, CACNA1G-AS1 (N23T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2090814	NM_018896.5(CACNA1G):c.70G>A (p.Asp24Asn)	CACNA1G, CACNA1G-AS1 (D24N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1916187	NM_018896.5(CACNA1G):c.72C>G (p.Asp24Glu)	CACNA1G, CACNA1G-AS1 (D24E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2962272	NM_018896.5(CACNA1G):c.73C>T (p.Leu25=)	CACNA1G, CACNA1G-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 387126	NM_018896.5(CACNA1G):c.77C>G (p.Ser26Trp)	CACNA1G, CACNA1G-AS1 (S26W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1302298	NM_018896.5(CACNA1G):c.78G>A (p.Ser26=)	CACNA1G, CACNA1G-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3136376	NM_018896.5(CACNA1G):c.86G>A (p.Gly29Glu)	CACNA1G, CACNA1G-AS1 (G29E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2888122	NM_018896.5(CACNA1G):c.89G>A (p.Gly30Asp)	CACNA1G, CACNA1G-AS1 (G30D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3054884	NM_018896.5(CACNA1G):c.103G>A (p.Gly35Arg)	CACNA1G, CACNA1G-AS1 (G35R)	Single nucleotide variant (missense variant +1 more)	CACNA1G-related disorder	GUncertain significance
Select item 2920171	NM_018896.5(CACNA1G):c.123G>T (p.Pro41=)	CACNA1G, CACNA1G-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 808292	NM_018896.5(CACNA1G):c.123G>C (p.Pro41=)	CACNA1G, CACNA1G-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2230327	NM_018896.5(CACNA1G):c.126del (p.Ser43fs)	CACNA1G, CACNA1G-AS1 (S43fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2634813	NM_018896.5(CACNA1G):c.146A>T (p.Glu49Val)	CACNA1G, CACNA1G-AS1 (E49V)	Single nucleotide variant (missense variant +1 more)	CACNA1G-related disorder +1 more	GUncertain significance
Select item 3253502	NM_018896.5(CACNA1G):c.155C>G (p.Pro52Arg)	CACNA1G, CACNA1G-AS1 (P52R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672700	NM_018896.5(CACNA1G):c.156G>A (p.Pro52=)	CACNA1G, CACNA1G-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796182	NM_018896.5(CACNA1G):c.164C>T (p.Ala55Val)	CACNA1G, CACNA1G-AS1 (A55V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2889050	NM_018896.5(CACNA1G):c.165G>A (p.Ala55=)	CACNA1G-AS1, CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973556	NM_018896.5(CACNA1G):c.192G>A (p.Leu64=)	CACNA1G, CACNA1G-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2412851	NM_018896.5(CACNA1G):c.215G>A (p.Ser72Asn)	CACNA1G, CACNA1G-AS1 (S72N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340728	NM_018896.5(CACNA1G):c.227G>T (p.Arg76Leu)	CACNA1G, CACNA1G-AS1 (R76L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010711	NM_018896.5(CACNA1G):c.242+19C>G	CACNA1G, CACNA1G-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1933781	NM_018896.5(CACNA1G):c.242+19C>T	CACNA1G, CACNA1G-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287817	NM_018896.5(CACNA1G):c.242+134dup	CACNA1G, CACNA1G-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1262688	NM_018896.5(CACNA1G):c.242+125_242+126insAGG	CACNA1G, CACNA1G-AS1	Insertion (intron variant)	not provided	GBenign
Select item 1259361	NM_018896.5(CACNA1G):c.242+134del	CACNA1G, CACNA1G-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1290756	NM_018896.5(CACNA1G):c.242+305C>A	CACNA1G, CACNA1G-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3367800	NM_018896.5(CACNA1G):c.253C>A (p.Arg85Ser)	CACNA1G (R85S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3136355	NM_018896.5(CACNA1G):c.254G>A (p.Arg85His)	CACNA1G (R85H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 384332	NM_018896.5(CACNA1G):c.262A>G (p.Met88Val)	CACNA1G (M88V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2920371	NM_018896.5(CACNA1G):c.279C>G (p.Leu93=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2906031	NM_018896.5(CACNA1G):c.285C>T (p.Cys95=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1234274	NM_018896.5(CACNA1G):c.286G>A (p.Val96Met)	CACNA1G (V96M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1315060	NM_018896.5(CACNA1G):c.304C>T (p.Arg102Trp)	CACNA1G (R102W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 391562	NM_018896.5(CACNA1G):c.305G>A (p.Arg102Gln)	CACNA1G (R102Q)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2738401	NM_018896.5(CACNA1G):c.322G>A (p.Ala108Thr)	CACNA1G (A108T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 794548	NM_018896.5(CACNA1G):c.330C>T (p.Asp110=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1718753	NM_018896.5(CACNA1G):c.337C>A (p.Arg113Ser)	CACNA1G (R113S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1303655	NM_018896.5(CACNA1G):c.338G>A (p.Arg113His)	CACNA1G (R113H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 587452	NM_018896.5(CACNA1G):c.344G>A (p.Arg115Gln)	CACNA1G (R115Q)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 2241179	NM_018896.5(CACNA1G):c.350T>G (p.Leu117Arg)	CACNA1G (L117R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2647895	NM_018896.5(CACNA1G):c.354+5GT[18]	CACNA1G	Microsatellite (intron variant)	not provided	GBenign
Select item 1205938	NM_018896.5(CACNA1G):c.354+5GT[16]	CACNA1G	Microsatellite (intron variant)	not provided	GBenign
Select item 775326	NM_018896.5(CACNA1G):c.354+5GT[13]	CACNA1G	Microsatellite (intron variant)	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits +2 more	GConflicting classifications of pathogenicity
Select item 768899	NM_018896.5(CACNA1G):c.354+5GT[14]	CACNA1G	Microsatellite (intron variant)	not provided	GBenign
Select item 1219143	NM_018896.5(CACNA1G):c.419G>A (p.Gly140Asp)	CACNA1G (G140D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647896	NM_018896.5(CACNA1G):c.442C>T (p.Leu148=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3368691	NM_018896.5(CACNA1G):c.460C>T (p.Arg154Trp)	CACNA1G (R154W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2398848	NM_018896.5(CACNA1G):c.478G>A (p.Val160Ile)	CACNA1G (V160I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1027470	NM_018896.5(CACNA1G):c.481A>T (p.Ile161Phe)	CACNA1G (I161F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2992095	NM_018896.5(CACNA1G):c.484G>T (p.Ala162Ser)	CACNA1G (A162S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1207403	NM_018896.5(CACNA1G):c.484G>A (p.Ala162Thr)	CACNA1G (A162T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2960128	NM_018896.5(CACNA1G):c.488+6G>A	CACNA1G	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3012385	NM_018896.5(CACNA1G):c.488+8C>G	CACNA1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706566	NM_018896.5(CACNA1G):c.488+9C>T	CACNA1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785153	NM_018896.5(CACNA1G):c.488+13G>A	CACNA1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192601	NM_018896.5(CACNA1G):c.489-56T>G	CACNA1G	Single nucleotide variant (intron variant)	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits +2 more	GBenign
Select item 1955247	NM_018896.5(CACNA1G):c.489-20C>T	CACNA1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2582152	NM_018896.5(CACNA1G):c.503C>T (p.Ser168Leu)	CACNA1G (S168L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1184723	NM_018896.5(CACNA1G):c.532G>A (p.Ala178Thr)	CACNA1G (A178T)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 587511	NM_018896.5(CACNA1G):c.544G>C (p.Val182Leu)	CACNA1G (V182L)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1309371	NM_018896.5(CACNA1G):c.551T>G (p.Val184Gly)	CACNA1G (V184G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707828	NM_018896.5(CACNA1G):c.560C>T (p.Pro187Leu)	CACNA1G (P187L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 722081	NM_018896.5(CACNA1G):c.576C>T (p.Asn192=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2439668	NM_018896.5(CACNA1G):c.578G>A (p.Arg193Gln)	CACNA1G (R193Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067799	NM_018896.5(CACNA1G):c.580G>C (p.Val194Leu)	CACNA1G (V194L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1904205	NM_018896.5(CACNA1G):c.586+9C>A	CACNA1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3032988	NM_018896.5(CACNA1G):c.586+10C>T	CACNA1G	Single nucleotide variant (intron variant)	CACNA1G-related disorder	GLikely benign
Select item 3339214	NM_018896.5(CACNA1G):c.586+11C>T	CACNA1G	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1722930	NM_018896.5(CACNA1G):c.590T>G (p.Met197Arg)	CACNA1G (M197R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 623933	NM_018896.5(CACNA1G):c.593G>A (p.Arg198His)	CACNA1G (R198H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647897	NM_018896.5(CACNA1G):c.606G>A (p.Thr202=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3047084	NM_018896.5(CACNA1G):c.621G>T (p.Thr207=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	CACNA1G-related disorder	GLikely benign
Select item 2961920	NM_018896.5(CACNA1G):c.621G>A (p.Thr207=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 452482	NM_018896.5(CACNA1G):c.623T>C (p.Leu208Pro)	CACNA1G (L208P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3234634	NM_018896.5(CACNA1G):c.626C>T (p.Pro209Leu)	CACNA1G (P209L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 974856	NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro)	CACNA1G (L211P)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GLikely pathogenic
Select item 2722274	NM_018896.5(CACNA1G):c.639C>T (p.Asn213=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1902354	NM_018896.5(CACNA1G):c.648G>A (p.Leu216=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3066134	NM_018896.5(CACNA1G):c.661G>A (p.Val221Ile)	CACNA1G (V221I)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	GUncertain significance
Select item 183285	NM_018896.5(CACNA1G):c.664TTC[1] (p.Phe223del)	CACNA1G (F223del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 2892562	NM_018896.5(CACNA1G):c.663C>T (p.Val221=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 742408	NM_018896.5(CACNA1G):c.675C>T (p.Phe225=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 871461	NM_018896.5(CACNA1G):c.684C>T (p.Val228=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965933	NM_018896.5(CACNA1G):c.687C>T (p.Gly229=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1314889	NM_018896.5(CACNA1G):c.688G>A (p.Val230Ile)	CACNA1G (V230I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 740502	NM_018896.5(CACNA1G):c.732T>C (p.Pro244=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2420215	NM_018896.5(CACNA1G):c.746+7_746+8delinsTT	CACNA1G	Indel (intron variant)	not provided	GLikely benign
Select item 749783	NM_018896.5(CACNA1G):c.746+7G>T	CACNA1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 749784	NM_018896.5(CACNA1G):c.746+8G>T	CACNA1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970952	NM_018896.5(CACNA1G):c.746+16G>A	CACNA1G	Single nucleotide variant (intron variant)	not provided	GLikely benign

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