ClinVar for Gene (Select 2) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339138	NM_000014.6(A2M):c.1078C>T (p.Arg360Ter)	A2M, KLRG1 (R210* +2 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3327032	NM_000014.6(A2M):c.2809C>T (p.Pro937Ser)	A2M, KLRG1 (P837S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318187	NM_000014.6(A2M):c.479A>T (p.Glu160Val)	A2M, KLRG1 (E10V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309792	NM_000014.6(A2M):c.703G>T (p.Val235Leu)	A2M, KLRG1 (V135L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266898	NM_000014.6(A2M):c.4232G>A (p.Ser1411Asn)	A2M, KLRG1 (S1411N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266038	NM_000014.6(A2M):c.733G>A (p.Glu245Lys)	A2M, KLRG1 (E95K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265170	NM_000014.6(A2M):c.1747G>A (p.Ala583Thr)	A2M, KLRG1 (A483T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264313	NM_000014.6(A2M):c.1771C>T (p.Pro591Ser)	A2M, KLRG1 (P491S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263422	NM_000014.6(A2M):c.1456A>T (p.Thr486Ser)	A2M, KLRG1 (T336S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262551	NM_000014.6(A2M):c.1946A>G (p.Tyr649Cys)	A2M, KLRG1 (Y499C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261780	NM_000014.6(A2M):c.3349A>C (p.Thr1117Pro)	A2M, KLRG1 (T1017P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261445	NM_000014.6(A2M):c.1225A>G (p.Ile409Val)	A2M, KLRG1 (I259V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260852	NM_000014.6(A2M):c.445G>A (p.Val149Ile)	A2M, KLRG1 (V149I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258116	NM_000014.6(A2M):c.1616G>A (p.Arg539Gln)	A2M, KLRG1 (R539Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146264	NM_000014.6(A2M):c.278A>T (p.Lys93Met)	A2M, KLRG1 (K93M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3145039	NM_000014.6(A2M):c.2601T>G (p.Asn867Lys)	A2M, KLRG1 (N767K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144731	NM_000014.6(A2M):c.2491T>C (p.Ser831Pro)	A2M, KLRG1 (S681P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143593	NM_000014.6(A2M):c.2286C>G (p.Ile762Met)	A2M, KLRG1 (I662M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142903	NM_000014.6(A2M):c.214A>C (p.Ser72Arg)	A2M, KLRG1 (S72R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142343	NM_000014.6(A2M):c.2003G>A (p.Ser668Asn)	A2M, KLRG1 (S518N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141435	NM_000014.6(A2M):c.1846T>C (p.Ser616Pro)	A2M, KLRG1 (S616P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141194	NM_000014.6(A2M):c.1844C>T (p.Ala615Val)	A2M, KLRG1 (A515V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140339	NM_000014.6(A2M):c.1402C>A (p.Leu468Ile)	A2M, KLRG1 (L368I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140033	NM_000014.6(A2M):c.1373T>G (p.Phe458Cys)	A2M, KLRG1 (F458C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137445	NM_000014.6(A2M):c.1096T>C (p.Phe366Leu)	A2M, KLRG1 (F216L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082359	NM_000014.6(A2M):c.616G>T (p.Val206Leu)	A2M, KLRG1 (V206L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080278	NM_000014.6(A2M):c.4205C>G (p.Ser1402Cys)	A2M, KLRG1 (S1252C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079719	NM_000014.6(A2M):c.4118G>A (p.Arg1373His)	A2M, KLRG1 (R1373H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078885	NM_000014.6(A2M):c.4033G>A (p.Val1345Met)	A2M, KLRG1 (V1345M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078057	NM_000014.6(A2M):c.3656C>A (p.Ala1219Asp)	A2M, KLRG1 (A1119D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077670	NM_000014.6(A2M):c.3653C>T (p.Thr1218Met)	A2M, KLRG1 (T1118M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076781	NM_000014.6(A2M):c.3488G>C (p.Arg1163Thr)	A2M, KLRG1 (R1013T +2 more)	Single nucleotide variant (missense variant)	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 3060838	NM_000014.6(A2M):c.2597-4T>A	A2M, KLRG1	Single nucleotide variant (intron variant)	A2M-related disorder	GBenign
Select item 3058150	NM_000014.6(A2M):c.3494A>G (p.Glu1165Gly)	A2M, KLRG1 (E1015G +2 more)	Single nucleotide variant (missense variant)	A2M-related disorder	GLikely benign
Select item 3057371	NM_000014.6(A2M):c.1644C>T (p.Thr548=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related disorder	GLikely benign
Select item 3057128	NM_000014.6(A2M):c.3277-9T>G	A2M, KLRG1	Single nucleotide variant (intron variant)	A2M-related disorder	GLikely benign
Select item 3057071	NM_000014.6(A2M):c.1296C>T (p.Tyr432=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related disorder	GBenign
Select item 3052428	NM_000014.6(A2M):c.2679C>T (p.His893=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related disorder	GLikely benign
Select item 3049620	NM_000014.6(A2M):c.1275C>T (p.Tyr425=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related disorder	GBenign
Select item 3048942	NM_000014.6(A2M):c.2812A>G (p.Asn938Asp)	A2M, KLRG1 (N788D +2 more)	Single nucleotide variant (missense variant)	A2M-related disorder	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 disorder	GLikely benign
Select item 3044172	NM_000014.6(A2M):c.1129G>A (p.Val377Ile)	A2M, KLRG1 (V227I +2 more)	Single nucleotide variant (missense variant)	A2M-related disorder	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 disorder	GBenign
Select item 3041387	NM_000014.6(A2M):c.53T>G (p.Leu18Arg)	A2M, KLRG1 (L18R)	Single nucleotide variant (missense variant +1 more)	A2M-related disorder	GLikely benign
Select item 3041113	NM_000014.6(A2M):c.2439G>A (p.Thr813=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related disorder	GLikely benign
Select item 3038794	NM_000014.6(A2M):c.1506G>A (p.Lys502=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related disorder	GLikely benign
Select item 3034349	NM_000014.6(A2M):c.1757G>A (p.Arg586Gln)	A2M, KLRG1 (R436Q +2 more)	Single nucleotide variant (missense variant)	A2M-related disorder	GLikely benign
Select item 3033677	NM_000014.6(A2M):c.1495-10T>C	A2M, KLRG1	Single nucleotide variant (intron variant)	A2M-related disorder	GLikely benign
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2620624	NM_000014.6(A2M):c.4204T>G (p.Ser1402Ala)	A2M, KLRG1 (S1252A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611046	NM_000014.6(A2M):c.1231A>G (p.Thr411Ala)	A2M, KLRG1 (T261A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609731	NM_000014.6(A2M):c.2330G>A (p.Gly777Glu)	A2M, KLRG1 (G677E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604162	NM_000014.6(A2M):c.2842G>T (p.Val948Phe)	A2M, KLRG1 (V798F +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2563952	NM_000014.6(A2M):c.1934G>A (p.Arg645His)	A2M, KLRG1 (R645H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559055	NM_000014.6(A2M):c.260T>A (p.Val87Asp)	A2M, KLRG1 (V87D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552688	NM_000014.6(A2M):c.98T>C (p.Val33Ala)	A2M, KLRG1 (V33A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531002	NM_000014.6(A2M):c.1214T>C (p.Val405Ala)	A2M, KLRG1 (V305A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527543	NM_000014.6(A2M):c.2251G>C (p.Val751Leu)	A2M, KLRG1 (V601L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526714	NM_000014.6(A2M):c.1868C>G (p.Pro623Arg)	A2M, KLRG1 (P523R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521978	NM_000014.6(A2M):c.3674C>T (p.Ser1225Leu)	A2M, KLRG1 (S1075L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515841	NM_000014.6(A2M):c.1205A>G (p.His402Arg)	A2M, KLRG1 (H252R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514869	NM_000014.6(A2M):c.1735C>G (p.Pro579Ala)	A2M, KLRG1 (P429A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514675	NM_000014.6(A2M):c.622C>G (p.Gln208Glu)	A2M, KLRG1 (Q108E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494083	NM_000014.6(A2M):c.490C>G (p.Leu164Val)	A2M, KLRG1 (L14V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476900	NM_000014.6(A2M):c.350G>T (p.Arg117Leu)	A2M, KLRG1 (R17L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474181	NM_000014.6(A2M):c.3385G>A (p.Glu1129Lys)	A2M, KLRG1 (E1129K +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2409336	NM_000014.6(A2M):c.1202A>C (p.Glu401Ala)	A2M, KLRG1 (E401A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405095	NM_000014.6(A2M):c.2962G>A (p.Asp988Asn)	A2M, KLRG1 (D838N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399590	NM_000014.6(A2M):c.322A>G (p.Lys108Glu)	A2M, KLRG1 (K108E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379922	NM_000014.6(A2M):c.896G>A (p.Cys299Tyr)	A2M, KLRG1 (C149Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376401	NM_000014.6(A2M):c.3008A>C (p.Lys1003Thr)	A2M, KLRG1 (K903T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335320	NM_000014.6(A2M):c.2411G>A (p.Arg804His)	A2M, KLRG1 (R704H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332459	NM_000014.6(A2M):c.3299C>A (p.Thr1100Asn)	A2M, KLRG1 (T1000N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322923	NM_000014.6(A2M):c.542T>C (p.Phe181Ser)	A2M, KLRG1 (F81S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305175	NM_000014.6(A2M):c.1760T>C (p.Val587Ala)	A2M, KLRG1 (V487A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303234	NM_000014.6(A2M):c.4066A>G (p.Lys1356Glu)	A2M, KLRG1 (K1206E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288432	NM_000014.6(A2M):c.2390C>T (p.Thr797Ile)	A2M, KLRG1 (T697I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277243	NM_000014.6(A2M):c.2689G>T (p.Asp897Tyr)	A2M, KLRG1 (D897Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275856	NM_000014.6(A2M):c.1192A>G (p.Thr398Ala)	A2M, KLRG1 (T298A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272879	NM_000014.6(A2M):c.1360C>T (p.Pro454Ser)	A2M, KLRG1 (P304S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268524	NM_000014.6(A2M):c.3593A>T (p.Glu1198Val)	A2M, KLRG1 (E1198V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265103	NM_000014.6(A2M):c.4264G>A (p.Val1422Met)	A2M, KLRG1 (V1322M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264696	NM_000014.6(A2M):c.3014T>C (p.Ile1005Thr)	A2M, KLRG1 (I1005T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252771	NM_000014.6(A2M):c.4057G>C (p.Asp1353His)	A2M, KLRG1 (D1253H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247316	NM_000014.6(A2M):c.4399T>G (p.Cys1467Gly)	A2M, KLRG1 (C1317G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241240	NM_000014.6(A2M):c.521G>A (p.Arg174His)	A2M, KLRG1 (R74H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237949	NM_000014.6(A2M):c.2785G>C (p.Glu929Gln)	A2M, KLRG1 (E779Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233837	NM_000014.6(A2M):c.2039A>G (p.Asn680Ser)	A2M, KLRG1 (N580S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230211	NM_000014.6(A2M):c.3829C>A (p.Gln1277Lys)	A2M, KLRG1 (Q1127K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218210	NM_000014.6(A2M):c.1235C>T (p.Thr412Ile)	A2M, KLRG1 (T262I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205638	NM_000014.6(A2M):c.4364C>T (p.Thr1455Met)	A2M, KLRG1 (T1355M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1049273	NM_000014.6(A2M):c.2771-115C>G	A2M, KLRG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 974740	NC_000012.12:g.9092896_9155947dup	A2M, KLRG1	Duplication	Megacolon	GUncertain significance

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