MGA[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 755291	NM_001400225.1(MGA):c.99T>C (p.Asn33=)	MGA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2223841	NM_001400225.1(MGA):c.207T>G (p.Asp69Glu)	MGA (D69E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233302	NM_001400225.1(MGA):c.834C>A (p.Asp278Glu)	MGA (D278E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243575	NM_001400225.1(MGA):c.839A>C (p.Glu280Ala)	MGA (E280A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789331	NM_001400225.1(MGA):c.988C>G (p.Arg330Gly)	MGA (R330G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2239466	NM_001400225.1(MGA):c.994T>C (p.Phe332Leu)	MGA (F332L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715531	NM_001400225.1(MGA):c.1012A>G (p.Thr338Ala)	MGA (T338A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2232877	NM_001400225.1(MGA):c.1298T>G (p.Val433Gly)	MGA (V433G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346697	NM_001400225.1(MGA):c.1501A>G (p.Met501Val)	MGA (M501V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2645192	NM_001400225.1(MGA):c.1557C>T (p.Ala519=)	MGA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778487	NM_001400225.1(MGA):c.1817C>T (p.Ala606Val)	MGA (A606V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 719754	NM_001400225.1(MGA):c.2013+9G>T	MGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151339	GRCh38/hg38 15q15.1(chr15:41697762-42489559)x3	CAPN3, EHD4 +44 more	Copy number gain	See cases	GUncertain significance
Select item 2243939	NM_001400225.1(MGA):c.2541T>A (p.Asn847Lys)	MGA (N847K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790689	NM_001400225.1(MGA):c.2932CAACAG[3] (p.Gln981_Gly982insGlnGln)	MGA	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 731632	NM_001400225.1(MGA):c.3216C>T (p.Arg1072=)	MGA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2253024	NM_001400225.1(MGA):c.3571C>T (p.Pro1191Ser)	MGA (P1191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234246	NM_001400225.1(MGA):c.3602A>G (p.Lys1201Arg)	MGA (K1201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783708	NM_001400225.1(MGA):c.3657+6T>A	MGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2277659	NM_001400225.1(MGA):c.3682G>A (p.Val1228Ile)	MGA (V1228I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 800331	NM_001400225.1(MGA):c.3733G>C (p.Glu1245Gln)	MGA (E1245Q)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 2645193	NM_001400225.1(MGA):c.3750C>T (p.Asp1250=)	MGA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778488	NM_001400225.1(MGA):c.3969T>C (p.Tyr1323=)	MGA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726610	NM_001400225.1(MGA):c.4235C>G (p.Ser1412Cys)	MGA (S1412C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 712155	NM_001400225.1(MGA):c.4343A>G (p.Lys1448Arg)	MGA (K1448R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 773045	NM_001400225.1(MGA):c.4358A>G (p.Tyr1453Cys)	MGA (Y1453C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3125851	NM_001400225.1(MGA):c.4657G>A (p.Ala1553Thr)	MGA (A1504T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 734712	NM_001400225.1(MGA):c.5031T>C (p.Tyr1677=)	MGA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2235593	NM_001400225.1(MGA):c.5467C>A (p.Leu1823Ile)	MGA (L1565I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252141	NM_001400225.1(MGA):c.5506A>G (p.Met1836Val)	MGA (M1578V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783709	NM_001400225.1(MGA):c.5613C>A (p.Thr1871=)	MGA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2257694	NM_001400225.1(MGA):c.6019T>C (p.Ser2007Pro)	MGA (S1958P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770622	NM_001400225.1(MGA):c.6092A>G (p.Asn2031Ser)	MGA (N1773S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2249011	NM_001400225.1(MGA):c.6196T>G (p.Ser2066Ala)	MGA (S2017A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252142	NM_001400225.1(MGA):c.6408G>C (p.Arg2136Ser)	MGA (R1878S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773046	NM_001400225.1(MGA):c.7287-8T>C	MGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2381555	NM_001400225.1(MGA):c.7345C>A (p.Pro2449Thr)	MGA (P2400T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357907	NM_001400225.1(MGA):c.7960C>T (p.Leu2654Phe)	MGA (L2654F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711106	NM_001400225.1(MGA):c.8068+8G>A	MGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784311	NM_001400225.1(MGA):c.8367A>G (p.Gln2789=)	MGA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2238370	NM_001400225.1(MGA):c.8584A>G (p.Met2862Val)	MGA (M1845V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768697	NM_001400225.1(MGA):c.8767A>G (p.Thr2923Ala)	MGA (T2874A +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 715863	NM_001400225.1(MGA):c.8825A>C (p.Glu2942Ala)	MGA (E2684A +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2259100	NM_001400225.1(MGA):c.9010C>T (p.Pro3004Ser)	MGA (P2746S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355795	NM_001400225.1(MGA):c.9206A>G (p.Lys3069Arg)	MGA (K3069R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980031	GRCh37/hg19 15q15.1(chr15:41869275-42484890)x3	MGA, PLA2G4F +9 more	Copy number gain	not provided	GLikely benign
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 585331	der(15)t(5:15)(q23.2;q15.1)	MGA, NUTM1	Translocation	Spindle cell sarcoma	GPathogenic

ClinVar

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Items: 57