A2M[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007339, LOC130007340 +698 more	Copy number gain	See cases	GPathogenic
Select item 152932	GRCh38/hg38 12p13.31(chr12:8839030-9134304)x3	A2M, A2M-AS1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2247316	NM_000014.6(A2M):c.4399T>G (p.Cys1467Gly)	A2M, KLRG1 (C1317G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205638	NM_000014.6(A2M):c.4364C>T (p.Thr1455Met)	A2M, KLRG1 (T1355M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265103	NM_000014.6(A2M):c.4264G>A (p.Val1422Met)	A2M, KLRG1 (V1322M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620624	NM_000014.6(A2M):c.4204T>G (p.Ser1402Ala)	A2M, KLRG1 (S1252A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303234	NM_000014.6(A2M):c.4066A>G (p.Lys1356Glu)	KLRG1, A2M (K1206E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252771	NM_000014.6(A2M):c.4057G>C (p.Asp1353His)	KLRG1, A2M (D1253H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230211	NM_000014.6(A2M):c.3829C>A (p.Gln1277Lys)	A2M, KLRG1 (Q1127K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713107	NM_000014.6(A2M):c.3756+4G>A	A2M, KLRG1	Single nucleotide variant	not provided	GBenign
Select item 2521978	NM_000014.6(A2M):c.3674C>T (p.Ser1225Leu)	A2M, KLRG1 (S1075L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268524	NM_000014.6(A2M):c.3593A>T (p.Glu1198Val)	A2M, KLRG1 (E1198V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058150	NM_000014.6(A2M):c.3494A>G (p.Glu1165Gly)	A2M, KLRG1 (E1015G +2 more)	Single nucleotide variant (missense variant)	A2M-related condition	GLikely benign
Select item 3046130	NM_000014.6(A2M):c.3485A>G (p.Lys1162Arg)	A2M, KLRG1 (K1012R +2 more)	Single nucleotide variant (missense variant)	A2M-related condition	GLikely benign
Select item 781242	NM_000014.6(A2M):c.3456T>C (p.Tyr1152=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2474181	NM_000014.6(A2M):c.3385G>A (p.Glu1129Lys)	A2M, KLRG1 (E1129K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332459	NM_000014.6(A2M):c.3299C>A (p.Thr1100Asn)	A2M, KLRG1 (T1000N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057128	NM_000014.6(A2M):c.3277-9T>G	A2M, KLRG1	Single nucleotide variant (intron variant)	A2M-related condition	GLikely benign
Select item 711716	NM_000014.6(A2M):c.3092G>A (p.Arg1031Gln)	A2M, KLRG1 (R881Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 726982	NM_000014.6(A2M):c.3084T>C (p.Phe1028=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2264696	NM_000014.6(A2M):c.3014T>C (p.Ile1005Thr)	KLRG1, A2M (I1005T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376401	NM_000014.6(A2M):c.3008A>C (p.Lys1003Thr)	A2M, KLRG1 (K903T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 18171	NM_000014.6(A2M):c.2998A>G (p.Ile1000Val)	A2M, KLRG1 (I1000V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2405095	NM_000014.6(A2M):c.2962G>A (p.Asp988Asn)	KLRG1, A2M (D838N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 18172	NM_000014.6(A2M):c.2915G>A (p.Cys972Tyr)	A2M, KLRG1 (C972Y +2 more)	Single nucleotide variant (missense variant)	ALPHA-2-MACROGLOBULIN POLYMORPHISM	GBenign
Select item 2604162	NM_000014.6(A2M):c.2842G>T (p.Val948Phe)	A2M, KLRG1 (V798F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3048942	NM_000014.6(A2M):c.2812A>G (p.Asn938Asp)	A2M, KLRG1 (N788D +2 more)	Single nucleotide variant (missense variant)	A2M-related condition	GLikely benign
Select item 2237949	NM_000014.6(A2M):c.2785G>C (p.Glu929Gln)	A2M, KLRG1 (E779Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1049273	NM_000014.6(A2M):c.2771-115C>G	A2M, KLRG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2277243	NM_000014.6(A2M):c.2689G>T (p.Asp897Tyr)	A2M, KLRG1 (D897Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052428	NM_000014.6(A2M):c.2679C>T (p.His893=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related condition	GLikely benign
Select item 3060838	NM_000014.6(A2M):c.2597-4T>A	A2M, KLRG1	Single nucleotide variant (intron variant)	A2M-related condition	GBenign
Select item 714506	NM_000014.6(A2M):c.2532G>A (p.Ala844=)	KLRG1, A2M	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3042128	NM_000014.6(A2M):c.2531C>T (p.Ala844Val)	A2M, KLRG1 (A694V +2 more)	Single nucleotide variant (missense variant)	A2M-related condition	GBenign
Select item 3041113	NM_000014.6(A2M):c.2439G>A (p.Thr813=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related condition	GLikely benign
Select item 2335320	NM_000014.6(A2M):c.2411G>A (p.Arg804His)	KLRG1, A2M (R704H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288432	NM_000014.6(A2M):c.2390C>T (p.Thr797Ile)	A2M, KLRG1 (T697I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609731	NM_000014.6(A2M):c.2330G>A (p.Gly777Glu)	KLRG1, A2M (G677E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527543	NM_000014.6(A2M):c.2251G>C (p.Val751Leu)	A2M, KLRG1 (V601L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 974740	NC_000012.12:g.9092896_9155947dup	KLRG1, A2M	Duplication	Megacolon	GUncertain significance
Select item 18173	NM_000014.6(A2M):c.2125+1_2126-1del	A2M, KLRG1	Deletion (splice acceptor variant +1 more)	ALPHA-2-MACROGLOBULIN POLYMORPHISM	GBenign
Select item 402328	NM_000014.6(A2M):c.2126-6_2126-2del	A2M, KLRG1	Deletion (splice acceptor variant)	not specified +1 more	GBenign
Select item 18174	NM_000014.6(A2M):c.2111G>A (p.Arg704His)	A2M, KLRG1 (R704H +2 more)	Single nucleotide variant (missense variant)	ALPHA-2-MACROGLOBULIN POLYMORPHISM	GBenign
Select item 2233837	NM_000014.6(A2M):c.2039A>G (p.Asn680Ser)	A2M, KLRG1 (N580S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726983	NM_000014.6(A2M):c.2008C>T (p.Leu670=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2563952	NM_000014.6(A2M):c.1934G>A (p.Arg645His)	A2M, KLRG1 (R645H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2526714	NM_000014.6(A2M):c.1868C>G (p.Pro623Arg)	A2M, KLRG1 (P523R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305175	NM_000014.6(A2M):c.1760T>C (p.Val587Ala)	A2M, KLRG1 (V487A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034349	NM_000014.6(A2M):c.1757G>A (p.Arg586Gln)	A2M, KLRG1 (R436Q +2 more)	Single nucleotide variant (missense variant)	A2M-related condition	GLikely benign
Select item 2514869	NM_000014.6(A2M):c.1735C>G (p.Pro579Ala)	A2M, KLRG1 (P429A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057371	NM_000014.6(A2M):c.1644C>T (p.Thr548=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related condition	GLikely benign
Select item 3038794	NM_000014.6(A2M):c.1506G>A (p.Lys502=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related condition	GLikely benign
Select item 3033677	NM_000014.6(A2M):c.1495-10T>C	A2M, KLRG1	Single nucleotide variant (intron variant)	A2M-related condition	GLikely benign
Select item 2272879	NM_000014.6(A2M):c.1360C>T (p.Pro454Ser)	KLRG1, A2M (P304S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768514	NM_000014.6(A2M):c.1311G>A (p.Val437=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3057071	NM_000014.6(A2M):c.1296C>T (p.Tyr432=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related condition	GBenign
Select item 3049620	NM_000014.6(A2M):c.1275C>T (p.Tyr425=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related condition	GBenign
Select item 2218210	NM_000014.6(A2M):c.1235C>T (p.Thr412Ile)	A2M, KLRG1 (T262I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611046	NM_000014.6(A2M):c.1231A>G (p.Thr411Ala)	A2M, KLRG1 (T261A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531002	NM_000014.6(A2M):c.1214T>C (p.Val405Ala)	A2M, KLRG1 (V305A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2515841	NM_000014.6(A2M):c.1205A>G (p.His402Arg)	A2M, KLRG1 (H252R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409336	NM_000014.6(A2M):c.1202A>C (p.Glu401Ala)	KLRG1, A2M (E401A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275856	NM_000014.6(A2M):c.1192A>G (p.Thr398Ala)	KLRG1, A2M (T298A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781243	NM_000014.6(A2M):c.1155C>T (p.Phe385=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3044172	NM_000014.6(A2M):c.1129G>A (p.Val377Ile)	A2M, KLRG1 (V227I +2 more)	Single nucleotide variant (missense variant)	A2M-related condition	GBenign
Select item 2379922	NM_000014.6(A2M):c.896G>A (p.Cys299Tyr)	KLRG1, A2M (C149Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729811	NM_000014.6(A2M):c.829G>A (p.Asp277Asn)	A2M, KLRG1 (D127N +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714548	NM_000014.6(A2M):c.822C>T (p.Asp274=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770606	NM_000014.6(A2M):c.782C>T (p.Pro261Leu)	A2M, KLRG1 (P261L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2514675	NM_000014.6(A2M):c.622C>G (p.Gln208Glu)	A2M, KLRG1 (Q108E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322923	NM_000014.6(A2M):c.542T>C (p.Phe181Ser)	KLRG1, A2M (F81S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241240	NM_000014.6(A2M):c.521G>A (p.Arg174His)	A2M, KLRG1 (R74H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494083	NM_000014.6(A2M):c.490C>G (p.Leu164Val)	A2M, KLRG1 (L14V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777428	NM_000014.6(A2M):c.387C>G (p.Val129=)	A2M, KLRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 734227	NM_000014.6(A2M):c.360G>A (p.Val120=)	A2M, KLRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2476900	NM_000014.6(A2M):c.350G>T (p.Arg117Leu)	A2M, KLRG1 (R17L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399590	NM_000014.6(A2M):c.322A>G (p.Lys108Glu)	KLRG1, A2M (K108E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463358	NM_000014.6(A2M):c.313G>C (p.Val105Leu)	A2M, KLRG1 (V105L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559055	NM_000014.6(A2M):c.260T>A (p.Val87Asp)	A2M, KLRG1 (V87D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552688	NM_000014.6(A2M):c.98T>C (p.Val33Ala)	A2M, KLRG1 (V33A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3041387	NM_000014.6(A2M):c.53T>G (p.Leu18Arg)	A2M, KLRG1 (L18R)	Single nucleotide variant (missense variant +1 more)	A2M-related condition	GLikely benign
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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1807971	GRCh37/hg19 12p13.31(chr12:8781515-9605163)x4	A2M, A2ML1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 688765	GRCh37/hg19 12p13.31(chr12:8966269-9289695)x3	A2M, A2ML1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic

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