"Ambry Genetics"[submitter] AND "MAG"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292579	NM_002361.4(MAG):c.56G>C (p.Gly19Ala)	MAG (G19A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292580	NM_002361.4(MAG):c.92C>T (p.Ser31Leu)	MAG (S6L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122044	NM_002361.4(MAG):c.196C>G (p.Pro66Ala)	MAG (P66A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553605	NM_002361.4(MAG):c.212C>T (p.Pro71Leu)	MAG (P46L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528911	NM_002361.4(MAG):c.229C>A (p.Arg77Ser)	MAG (R52S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122045	NM_002361.4(MAG):c.236A>G (p.Gln79Arg)	MAG (Q54R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122046	NM_002361.4(MAG):c.257A>G (p.Gln86Arg)	MAG (Q61R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122047	NM_002361.4(MAG):c.263G>A (p.Arg88His)	MAG (R88H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463001	NM_002361.4(MAG):c.308T>A (p.Leu103Gln)	MAG (L78Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463002	NM_002361.4(MAG):c.313A>C (p.Ser105Arg)	MAG (S80R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 579541	NM_002361.4(MAG):c.319G>A (p.Val107Ile)	MAG (V107I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75 +1 more	GUncertain significance
Select item 3292575	NM_002361.4(MAG):c.347A>T (p.Tyr116Phe)	MAG (Y116F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543927	NM_002361.4(MAG):c.360C>A (p.Asp120Glu)	MAG (D95E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292578	NM_002361.4(MAG):c.374A>G (p.Asn125Ser)	MAG (N100S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1962749	NM_002361.4(MAG):c.400G>A (p.Val134Ile)	MAG (V109I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 969102	NM_002361.4(MAG):c.439C>G (p.Pro147Ala)	MAG (P147A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75 +1 more	GUncertain significance
Select item 2081886	NM_002361.4(MAG):c.619A>G (p.Thr207Ala)	MAG (T182A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 575785	NM_002361.4(MAG):c.646G>T (p.Gly216Cys)	MAG (G216C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2058855	NM_002361.4(MAG):c.706G>A (p.Val236Ile)	MAG (V211I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3122048	NM_002361.4(MAG):c.721G>A (p.Val241Met)	MAG (V216M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324267	NM_002361.4(MAG):c.722T>A (p.Val241Glu)	MAG (V241E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226168	NM_002361.4(MAG):c.841C>T (p.Arg281Trp)	MAG (R256W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122049	NM_002361.4(MAG):c.856G>A (p.Glu286Lys)	MAG (E261K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122050	NM_002361.4(MAG):c.886A>C (p.Thr296Pro)	MAG (T271P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293921	NM_002361.4(MAG):c.892G>A (p.Ala298Thr)	MAG (A298T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2051813	NM_002361.4(MAG):c.920C>T (p.Ala307Val)	MAG (A307V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2488205	NM_002361.4(MAG):c.934G>T (p.Gly312Cys)	MAG (G312C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708514	NM_002361.4(MAG):c.971-5C>T	MAG	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 75 +1 more	GConflicting classifications of pathogenicity
Select item 1153897	NM_002361.4(MAG):c.1103C>T (p.Thr368Met)	MAG (T343M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75 +2 more	GLikely benign
Select item 2300705	NM_002361.4(MAG):c.1114G>A (p.Glu372Lys)	MAG (E347K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1520737	NM_002361.4(MAG):c.1138C>T (p.Pro380Ser)	MAG (P355S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75 +1 more	GUncertain significance
Select item 3292574	NM_002361.4(MAG):c.1139C>T (p.Pro380Leu)	MAG (P355L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122041	NM_002361.4(MAG):c.1153G>A (p.Glu385Lys)	MAG (E360K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317056	NM_002361.4(MAG):c.1258C>T (p.His420Tyr)	MAG (H420Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 445646	NM_002361.4(MAG):c.1274G>A (p.Arg425Gln)	MAG (R425Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2527351	NM_002361.4(MAG):c.1277A>G (p.Asp426Gly)	MAG (D401G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1509810	NM_002361.4(MAG):c.1292T>A (p.Leu431Gln)	MAG (L431Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2262104	NM_002361.4(MAG):c.1327G>A (p.Ala443Thr)	MAG (A443T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610896	NM_002361.4(MAG):c.1346G>C (p.Arg449Pro)	MAG (R449P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 572016	NM_002361.4(MAG):c.1394G>A (p.Arg465His)	MAG (R465H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2378153	NM_002361.4(MAG):c.1398C>A (p.Ser466Arg)	MAG (S466R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1385400	NM_002361.4(MAG):c.1468G>A (p.Ala490Thr)	MAG (A490T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 75 +1 more	GUncertain significance
Select item 3122043	NM_002361.4(MAG):c.1516G>C (p.Ala506Pro)	MAG (A481P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542693	NM_002361.4(MAG):c.1543G>A (p.Gly515Arg)	MAG (G515R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375568	NM_002361.4(MAG):c.1555G>A (p.Ala519Thr)	MAG (A519T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292576	NM_002361.4(MAG):c.1693T>G (p.Ser565Ala)	MAG (S540A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484331	NM_002361.4(MAG):c.1705G>A (p.Glu569Lys)	MAG (E569K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2073236	NM_002361.4(MAG):c.1727G>A (p.Arg576His)	MAG (R576H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 75 +1 more	GUncertain significance
Select item 2167202	NM_002361.4(MAG):c.1759C>T (p.Arg587Trp)	MAG (R587W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 75 +1 more	GUncertain significance
Select item 1345617	NM_002361.4(MAG):c.1782C>A (p.Asp594Glu)	MAG (D594E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2228739	NM_002361.4(MAG):c.1796A>C (p.His599Pro)	MAG (H574P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524010	NM_002361.4(MAG):c.1870C>T (p.Arg624Trp)	MAG (R599W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 52