ClinVar for Gene (Select 144568) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063754	NC_000012.11:g.(8998819_9000144)_(9007428_9008104)del	A2ML1	Deletion	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3057859	NM_144670.6(A2ML1):c.1477-280A>G	A2ML1	Single nucleotide variant (5 prime UTR variant +1 more)	A2ML1-related condition	GLikely benign
Select item 3048541	NM_144670.6(A2ML1):c.1887G>A (p.Glu629=)	A2ML1	Single nucleotide variant (synonymous variant)	A2ML1-related condition	GLikely benign
Select item 3043784	NM_144670.6(A2ML1):c.3693A>C (p.Ala1231=)	A2ML1	Single nucleotide variant (synonymous variant)	A2ML1-related condition	GLikely benign
Select item 3035268	NM_144670.6(A2ML1):c.3273TGA[2] (p.Asp1093del)	A2ML1 (D1093del +1 more)	Microsatellite (inframe deletion)	A2ML1-related condition	GUncertain significance
Select item 3032737	NM_144670.6(A2ML1):c.3570G>A (p.Ala1190=)	A2ML1	Single nucleotide variant (synonymous variant)	A2ML1-related condition	GLikely benign
Select item 3031503	NM_144670.6(A2ML1):c.1545del (p.Ala516fs)	A2ML1 (A25fs +1 more)	Deletion (frameshift variant)	A2ML1-related condition	GUncertain significance
Select item 3031170	NM_144670.6(A2ML1):c.1455A>G (p.Gln485=)	A2ML1	Single nucleotide variant (synonymous variant)	A2ML1-related condition	GLikely benign
Select item 3030111	NM_144670.6(A2ML1):c.2748A>T (p.Ser916=)	A2ML1	Single nucleotide variant (synonymous variant)	A2ML1-related condition	GLikely benign
Select item 3025959	NM_144670.6(A2ML1):c.952G>A (p.Val318Ile)	A2ML1 (V318I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018895	NM_144670.6(A2ML1):c.1128G>A (p.Val376=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017335	NM_144670.6(A2ML1):c.1812C>G (p.Asp604Glu)	A2ML1 (D604E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017011	NM_144670.6(A2ML1):c.1476+1G>A	A2ML1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3016574	NM_144670.6(A2ML1):c.4003A>G (p.Lys1335Glu)	A2ML1 (K844E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015138	NM_144670.6(A2ML1):c.4221+6T>G	A2ML1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3010760	NM_144670.6(A2ML1):c.634G>T (p.Glu212Ter)	A2ML1 (E212*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3007978	NM_144670.6(A2ML1):c.1297C>T (p.Arg433Cys)	A2ML1 (R433C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006843	NM_144670.6(A2ML1):c.1537+14C>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005583	NM_144670.6(A2ML1):c.3853G>T (p.Val1285Leu)	A2ML1 (V1285L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004296	NM_144670.6(A2ML1):c.462+17A>C	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001754	NM_144670.6(A2ML1):c.4062-5C>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997535	NM_144670.6(A2ML1):c.2234+12C>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996131	NM_144670.6(A2ML1):c.1391G>A (p.Cys464Tyr)	A2ML1 (C464Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993886	NM_144670.6(A2ML1):c.2079T>C (p.Asp693=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989439	NM_144670.6(A2ML1):c.3025+9G>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985667	NM_144670.6(A2ML1):c.1357C>T (p.Leu453Phe)	A2ML1 (L453F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982722	NM_144670.6(A2ML1):c.3359G>T (p.Gly1120Val)	A2ML1 (G1120V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981032	NM_144670.6(A2ML1):c.1415T>C (p.Val472Ala)	A2ML1 (V472A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977043	NM_144670.6(A2ML1):c.3623C>G (p.Pro1208Arg)	A2ML1 (P1208R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975883	NM_144670.6(A2ML1):c.3153C>A (p.Phe1051Leu)	A2ML1 (F1051L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974884	NM_144670.6(A2ML1):c.2029-19T>C	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974710	NM_144670.6(A2ML1):c.223C>A (p.His75Asn)	A2ML1, A2ML1-AS1 (H75N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971384	NM_144670.6(A2ML1):c.3223T>C (p.Cys1075Arg)	A2ML1 (C1075R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965507	NM_144670.6(A2ML1):c.62+9T>C	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957414	NM_144670.6(A2ML1):c.1723G>T (p.Ala575Ser)	A2ML1 (A575S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956272	NM_144670.6(A2ML1):c.3503G>C (p.Gly1168Ala)	A2ML1 (G1168A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956153	NM_144670.6(A2ML1):c.508C>T (p.Gln170Ter)	A2ML1 (Q170*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2954788	NM_144670.6(A2ML1):c.1758A>G (p.Gly586=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920270	NM_144670.6(A2ML1):c.2713-11C>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919881	NM_144670.6(A2ML1):c.2009A>G (p.Asp670Gly)	A2ML1 (D179G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918479	NM_144670.6(A2ML1):c.2063T>C (p.Ile688Thr)	A2ML1 (I688T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915548	NM_144670.6(A2ML1):c.2724C>T (p.Val908=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912713	NM_144670.6(A2ML1):c.1834-12C>G	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911319	NM_144670.6(A2ML1):c.1081-349_1081-348insCGGA	A2ML1	Insertion (intron variant)	not provided	GLikely benign
Select item 2911140	NM_144670.6(A2ML1):c.3427_3430dup (p.Phe1144fs)	A2ML1 (F653fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2908912	NM_144670.6(A2ML1):c.2585A>T (p.Lys862Ile)	A2ML1 (K371I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905398	NM_144670.6(A2ML1):c.3051A>G (p.Lys1017=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905305	NM_144670.6(A2ML1):c.2764+1G>A	A2ML1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2905191	NM_144670.6(A2ML1):c.143G>C (p.Ser48Thr)	A2ML1, A2ML1-AS1 (S48T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901167	NM_144670.6(A2ML1):c.539T>C (p.Ile180Thr)	A2ML1 (I180T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900904	NM_144670.6(A2ML1):c.4221+2dup	A2ML1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2899846	NM_144670.6(A2ML1):c.3682C>T (p.Gln1228Ter)	A2ML1 (Q1228* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2899372	NM_144670.6(A2ML1):c.1137G>A (p.Val379=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896547	NM_144670.6(A2ML1):c.1537+1G>T	A2ML1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2896432	NM_144670.6(A2ML1):c.585C>G (p.Thr195=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896137	NM_144670.6(A2ML1):c.2084G>A (p.Ser695Asn)	A2ML1 (S204N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895274	NM_144670.6(A2ML1):c.3203G>A (p.Gly1068Glu)	A2ML1 (G577E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892173	NM_144670.6(A2ML1):c.2591-18C>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888908	NM_144670.6(A2ML1):c.4062-20T>C	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887914	NM_144670.6(A2ML1):c.1826A>G (p.Asn609Ser)	A2ML1 (N609S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887771	NM_144670.6(A2ML1):c.4221+16C>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887709	NM_144670.6(A2ML1):c.3718-19G>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887133	NM_144670.6(A2ML1):c.279G>A (p.Val93=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880931	NM_144670.6(A2ML1):c.970+16C>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879796	NM_144670.6(A2ML1):c.1834-13C>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879764	NM_144670.6(A2ML1):c.3417G>A (p.Leu1139=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878767	NM_144670.6(A2ML1):c.2526C>G (p.Thr842=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875753	NM_144670.6(A2ML1):c.3521G>T (p.Ser1174Ile)	A2ML1 (S683I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872034	NM_144670.6(A2ML1):c.1080+19C>G	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870215	NM_144670.6(A2ML1):c.1377C>A (p.Asn459Lys)	A2ML1 (N459K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860988	NM_144670.6(A2ML1):c.1941C>T (p.Asp647=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857746	NM_144670.6(A2ML1):c.4277C>A (p.Thr1426Asn)	A2ML1 (T1426N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857585	NM_144670.6(A2ML1):c.2149T>C (p.Ser717Pro)	A2ML1 (S717P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856685	NM_144670.6(A2ML1):c.2028+8T>C	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853971	NM_144670.6(A2ML1):c.1372C>T (p.Leu458=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852036	NM_144670.6(A2ML1):c.2911G>T (p.Gly971Cys)	A2ML1 (G971C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850796	NM_144670.6(A2ML1):c.3833T>C (p.Ile1278Thr)	A2ML1 (I1278T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850385	NM_144670.6(A2ML1):c.3070A>C (p.Ser1024Arg)	A2ML1 (S1024R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835265	NM_144670.6(A2ML1):c.4033C>G (p.Arg1345Gly)	A2ML1 (R1345G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833368	NM_144670.6(A2ML1):c.3241A>G (p.Asn1081Asp)	A2ML1 (N590D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832299	NM_144670.6(A2ML1):c.4171G>A (p.Val1391Met)	A2ML1 (V900M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829820	NM_144670.6(A2ML1):c.3632_3633delinsAC (p.Thr1211Asn)	A2ML1 (T1211N +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2828647	NM_144670.6(A2ML1):c.3673T>G (p.Leu1225Val)	A2ML1 (L1225V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827232	NM_144670.6(A2ML1):c.3717+3A>C	A2ML1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2825909	NM_144670.6(A2ML1):c.126C>T (p.Asp42=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823454	NM_144670.6(A2ML1):c.1914A>G (p.Pro638=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822397	NM_144670.6(A2ML1):c.2899C>G (p.Pro967Ala)	A2ML1 (P476A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817667	NM_144670.6(A2ML1):c.1674T>G (p.Phe558Leu)	A2ML1 (F558L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813811	NM_144670.6(A2ML1):c.3776C>T (p.Ser1259Phe)	A2ML1 (S1259F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811224	NM_144670.6(A2ML1):c.2884G>A (p.Gly962Ser)	A2ML1 (G962S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809327	NM_144670.6(A2ML1):c.3339+11C>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804603	NM_144670.6(A2ML1):c.1684-19A>T	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803739	NM_144670.6(A2ML1):c.3669T>C (p.Ala1223=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802036	NM_144670.6(A2ML1):c.463-2A>C	A2ML1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2801739	NM_144670.6(A2ML1):c.2235-18G>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801188	NM_144670.6(A2ML1):c.2152T>A (p.Ser718Thr)	A2ML1 (S718T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795932	NM_144670.6(A2ML1):c.1781T>C (p.Val594Ala)	A2ML1 (V103A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791660	NM_144670.6(A2ML1):c.1961C>G (p.Ser654Trp)	A2ML1 (S163W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788650	NM_144670.6(A2ML1):c.1664A>G (p.Glu555Gly)	A2ML1 (E64G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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