AMZ1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	ADAP1, AMZ1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC126859917, LOC126859918 +245 more	Copy number loss	See cases	GPathogenic
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 2394336	NM_001384743.1(AMZ1):c.19G>T (p.Ala7Ser)	AMZ1 (A7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282442	NM_001384743.1(AMZ1):c.37G>A (p.Gly13Arg)	AMZ1 (G13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487792	NM_001384743.1(AMZ1):c.56A>T (p.Asp19Val)	AMZ1 (D19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487793	NM_001384743.1(AMZ1):c.57C>A (p.Asp19Glu)	AMZ1 (D19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281441	NM_001384743.1(AMZ1):c.215A>C (p.Glu72Ala)	AMZ1 (E72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317034	NM_001384743.1(AMZ1):c.244G>A (p.Ala82Thr)	AMZ1 (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350560	NM_001384743.1(AMZ1):c.299C>T (p.Pro100Leu)	AMZ1 (P100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381355	NM_001384743.1(AMZ1):c.320C>T (p.Pro107Leu)	AMZ1 (P107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494006	NM_001384743.1(AMZ1):c.325G>A (p.Gly109Arg)	AMZ1 (G109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605421	NM_001384743.1(AMZ1):c.337C>A (p.Leu113Met)	AMZ1 (L113M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357742	NM_001384743.1(AMZ1):c.398C>T (p.Pro133Leu)	AMZ1 (P133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293656	NM_001384743.1(AMZ1):c.434G>A (p.Arg145Gln)	AMZ1 (R145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117416	NM_001384743.1(AMZ1):c.442C>T (p.Arg148Trp)	AMZ1 (R148W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398412	NM_001384743.1(AMZ1):c.443G>A (p.Arg148Gln)	AMZ1 (R148Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540078	NM_001384743.1(AMZ1):c.454A>G (p.Arg152Gly)	AMZ1 (R152G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458214	NM_001384743.1(AMZ1):c.463C>T (p.Leu155Phe)	AMZ1 (L155F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562199	NM_001384743.1(AMZ1):c.484T>A (p.Ser162Thr)	AMZ1 (S162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755779	NM_001384743.1(AMZ1):c.507A>G (p.Pro169=)	AMZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3117426	NM_001384743.1(AMZ1):c.563C>A (p.Ala188Asp)	AMZ1 (A188D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781022	NM_001384743.1(AMZ1):c.602-11TC[3]	AMZ1	Microsatellite (intron variant)	not provided	GBenign
Select item 3293646	NM_001384743.1(AMZ1):c.622G>A (p.Ala208Thr)	AMZ1 (A208T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387410	NM_001384743.1(AMZ1):c.625C>T (p.Arg209Trp)	AMZ1 (R209W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 764757	NM_001384743.1(AMZ1):c.661G>A (p.Ala221Thr)	AMZ1 (A221T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 724990	NM_001384743.1(AMZ1):c.680T>C (p.Val227Ala)	AMZ1 (V227A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3117435	NM_001384743.1(AMZ1):c.689C>T (p.Ala230Val)	AMZ1 (A230V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562201	NM_001384743.1(AMZ1):c.723G>T (p.Arg241Ser)	AMZ1 (R241S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554370	NM_001384743.1(AMZ1):c.729G>C (p.Trp243Cys)	AMZ1 (W243C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709085	NM_001384743.1(AMZ1):c.737G>C (p.Cys246Ser)	AMZ1 (C246S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3293662	NM_001384743.1(AMZ1):c.746C>G (p.Ala249Gly)	AMZ1 (A249G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293669	NM_001384743.1(AMZ1):c.785A>G (p.Glu262Gly)	AMZ1 (E262G)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2613059	NM_001384743.1(AMZ1):c.802G>A (p.Gly268Ser)	AMZ1 (G211E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293636	NM_001384743.1(AMZ1):c.841G>A (p.Gly281Ser)	AMZ1 (G258S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514076	NM_001384743.1(AMZ1):c.845C>T (p.Ala282Val)	AMZ1 (A259V +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3117443	NM_001384743.1(AMZ1):c.858C>A (p.Asp286Glu)	AMZ1 (D286E +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3117447	NM_001384743.1(AMZ1):c.859G>C (p.Glu287Gln)	AMZ1 (E264Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370752	NM_001384743.1(AMZ1):c.862G>C (p.Ala288Pro)	AMZ1 (A265P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514594	NM_001384743.1(AMZ1):c.871C>T (p.Arg291Trp)	AMZ1 (R291W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466977	NM_001384743.1(AMZ1):c.871C>G (p.Arg291Gly)	AMZ1 (A234G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117464	NM_001384743.1(AMZ1):c.872G>C (p.Arg291Pro)	AMZ1 (R291P +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2510359	NM_001384743.1(AMZ1):c.908T>G (p.Leu303Arg)	AMZ1 (L303R +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2264823	NM_001384743.1(AMZ1):c.931C>T (p.Leu311Phe)	AMZ1 (A254V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351013	NM_001384743.1(AMZ1):c.935T>C (p.Ile312Thr)	AMZ1 (I312T +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2488799	NM_001384743.1(AMZ1):c.961T>C (p.Trp321Arg)	AMZ1 (L264P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782260	NM_001384743.1(AMZ1):c.972G>A (p.Ala324=)	AMZ1 (G268S)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2228817	NM_001384743.1(AMZ1):c.974T>C (p.Val325Ala)	AMZ1 (V302A +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2555199	NM_001384743.1(AMZ1):c.995A>G (p.Gln332Arg)	AMZ1 (Q309R +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2251529	NM_001384743.1(AMZ1):c.1030C>G (p.Pro344Ala)	AMZ1 (P321A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716143	NM_001384743.1(AMZ1):c.1038C>T (p.Ala346=)	AMZ1 (Q290*)	Single nucleotide variant (nonsense +2 more)	not provided	GBenign
Select item 786891	NM_001384743.1(AMZ1):c.1050G>A (p.Ser350=)	AMZ1 (G294R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3117382	NM_001384743.1(AMZ1):c.1073C>T (p.Ser358Leu)	AMZ1 (S358L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2560453	NM_001384743.1(AMZ1):c.1081G>A (p.Gly361Ser)	AMZ1 (G338S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2478157	NM_001384743.1(AMZ1):c.1088G>A (p.Ser363Asn)	AMZ1 (S340N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2234356	NM_001384743.1(AMZ1):c.1127C>T (p.Thr376Ile)	AMZ1 (T353I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3117390	NM_001384743.1(AMZ1):c.1136C>T (p.Ser379Leu)	AMZ1 (S356L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 708716	NM_001384743.1(AMZ1):c.1140G>A (p.Gly380=)	AMZ1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2495343	NM_001384743.1(AMZ1):c.1172C>T (p.Ser391Leu)	AMZ1 (S391L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2624250	NM_001384743.1(AMZ1):c.1180C>A (p.Pro394Thr)	AMZ1 (P371T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 720653	NM_001384743.1(AMZ1):c.1181C>T (p.Pro394Leu)	AMZ1 (P394L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3293626	NM_001384743.1(AMZ1):c.1186C>T (p.Pro396Ser)	AMZ1 (P396S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2315683	NM_001384743.1(AMZ1):c.1204G>A (p.Glu402Lys)	AMZ1 (E379K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3117394	NM_001384743.1(AMZ1):c.1304A>G (p.Asp435Gly)	AMZ1 (D435G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 719957	NM_001384743.1(AMZ1):c.1307C>T (p.Ala436Val)	AMZ1 (A436V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 716953	NM_001384743.1(AMZ1):c.1315C>T (p.Arg439Cys)	AMZ1 (R439C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 3117399	NM_001384743.1(AMZ1):c.1352G>A (p.Arg451Lys)	AMZ1 (R451K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3117401	NM_001384743.1(AMZ1):c.1354C>G (p.Gln452Glu)	AMZ1 (Q429E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2657236	NM_001384743.1(AMZ1):c.1368C>A (p.Ser456Arg)	AMZ1 (S433R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2396262	NM_001384743.1(AMZ1):c.1381G>A (p.Val461Met)	AMZ1 (V461M +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2250606	NM_001384743.1(AMZ1):c.1390C>T (p.Arg464Cys)	AMZ1 (R464C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2314764	NM_001384743.1(AMZ1):c.1402G>A (p.Gly468Arg)	AMZ1 (G445R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2511003	NM_001384743.1(AMZ1):c.1431G>C (p.Lys477Asn)	AMZ1 (K454N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 728531	NM_001384743.1(AMZ1):c.1441C>T (p.Arg481Ter)	AMZ1 (R481* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3117406	NM_001384743.1(AMZ1):c.1471C>G (p.Arg491Gly)	AMZ1 (R491G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2369480	NM_001384743.1(AMZ1):c.1471C>T (p.Arg491Cys)	AMZ1 (R468C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3117407	NM_001384743.1(AMZ1):c.1484G>T (p.Gly495Val)	AMZ1 (G472V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2569747	NM_007353.3(GNA12):c.1075G>A (p.Val359Ile)	AMZ1, GNA12 (V359I +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2340772	NM_007353.3(GNA12):c.1063G>T (p.Asp355Tyr)	AMZ1, GNA12 (D279Y +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2411303	NM_007353.3(GNA12):c.1025G>T (p.Arg342Leu)	AMZ1, GNA12 (R325L +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3100541	NM_007353.3(GNA12):c.1006G>A (p.Asp336Asn)	AMZ1, GNA12 (D277N +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2473151	NM_007353.3(GNA12):c.986G>A (p.Arg329His)	AMZ1, GNA12 (R270H +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 783488	NM_007353.3(GNA12):c.978C>T (p.Asp326=)	AMZ1, GNA12	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2312982	NM_007353.3(GNA12):c.974A>C (p.Glu325Ala)	AMZ1, GNA12 (E249A +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2298044	NM_007353.3(GNA12):c.785T>C (p.Met262Thr)	AMZ1, GNA12 (M203T +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3281741	NM_007353.3(GNA12):c.737C>T (p.Thr246Met)	AMZ1, GNA12 (T170M +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3281747	NM_007353.3(GNA12):c.703C>T (p.Arg235Cys)	AMZ1, GNA12 (R159C +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2468366	NM_007353.3(GNA12):c.649G>A (p.Val217Ile)	AMZ1, GNA12 (V217I +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3245808	NC_000007.13:g.(?_2559496)_(2998140_?)del	AMZ1, BRAT1 +5 more	Deletion	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GPathogenic

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