"Ambry Genetics"[submitter] AND "MAGEC1"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2325913	NM_005462.5(MAGEC1):c.203A>G (p.Gln68Arg)	MAGEC1 (Q68R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369234	NM_005462.5(MAGEC1):c.278A>G (p.Gln93Arg)	MAGEC1 (Q93R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621368	NM_005462.5(MAGEC1):c.283C>A (p.Pro95Thr)	MAGEC1 (P95T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317856	NM_005462.5(MAGEC1):c.398G>A (p.Ser133Asn)	MAGEC1 (S133N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387163	NM_005462.5(MAGEC1):c.569T>C (p.Phe190Ser)	MAGEC1 (F190S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514426	NM_005462.5(MAGEC1):c.629T>C (p.Leu210Ser)	MAGEC1 (L210S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605077	NM_005462.5(MAGEC1):c.687C>A (p.Ala229=)	MAGEC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2360111	NM_005462.5(MAGEC1):c.694C>G (p.Pro232Ala)	MAGEC1 (P232A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364544	NM_005462.5(MAGEC1):c.709G>A (p.Val237Met)	MAGEC1 (V237M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350165	NM_005462.5(MAGEC1):c.815T>G (p.Val272Gly)	MAGEC1 (V272G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222000	NM_005462.5(MAGEC1):c.818G>C (p.Ser273Thr)	MAGEC1 (S273T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2346401	NM_005462.5(MAGEC1):c.923G>C (p.Ser308Thr)	MAGEC1 (S308T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2326052	NM_005462.5(MAGEC1):c.950G>A (p.Ser317Asn)	MAGEC1 (S317N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278772	NM_005462.5(MAGEC1):c.1052T>C (p.Leu351Ser)	MAGEC1 (L351S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455139	NM_005462.5(MAGEC1):c.1057A>C (p.Ile353Leu)	MAGEC1 (I353L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2371986	NM_005462.5(MAGEC1):c.1062C>A (p.Phe354Leu)	MAGEC1 (F354L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2283998	NM_005462.5(MAGEC1):c.1139C>G (p.Ser380Cys)	MAGEC1 (S380C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254428	NM_005462.5(MAGEC1):c.1175C>T (p.Ser392Phe)	MAGEC1 (S392F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254746	NM_005462.5(MAGEC1):c.1177C>T (p.Pro393Ser)	MAGEC1 (P393S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354013	NM_005462.5(MAGEC1):c.1186A>G (p.Thr396Ala)	MAGEC1 (T396A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294457	NM_005462.5(MAGEC1):c.1196C>A (p.Thr399Asn)	MAGEC1 (T399N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624244	NM_005462.5(MAGEC1):c.1201G>A (p.Glu401Lys)	MAGEC1 (E401K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377374	NM_005462.5(MAGEC1):c.1202A>G (p.Glu401Gly)	MAGEC1 (E401G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209320	NM_005462.5(MAGEC1):c.1234A>G (p.Met412Val)	MAGEC1 (M412V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2457437	NM_005462.5(MAGEC1):c.1247T>C (p.Phe416Ser)	MAGEC1 (F416S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297109	NM_005462.5(MAGEC1):c.1315C>G (p.Pro439Ala)	MAGEC1 (P439A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304892	NM_005462.5(MAGEC1):c.1366T>G (p.Leu456Val)	MAGEC1 (L456V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524653	NM_005462.5(MAGEC1):c.1372C>G (p.Leu458Val)	MAGEC1 (L458V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614975	NM_005462.5(MAGEC1):c.1375T>C (p.Phe459Leu)	MAGEC1 (F459L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216724	NM_005462.5(MAGEC1):c.1420C>G (p.Pro474Ala)	MAGEC1 (P474A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215145	NM_005462.5(MAGEC1):c.1460C>T (p.Ser487Phe)	MAGEC1 (S487F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221719	NM_005462.5(MAGEC1):c.1502G>A (p.Cys501Tyr)	MAGEC1 (C501Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513202	NM_005462.5(MAGEC1):c.1585C>T (p.Pro529Ser)	MAGEC1 (P529S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378444	NM_005462.5(MAGEC1):c.1636C>T (p.His546Tyr)	MAGEC1 (H546Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464470	NM_005462.5(MAGEC1):c.1710G>T (p.Gln570His)	MAGEC1 (Q570H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377420	NM_005462.5(MAGEC1):c.1775C>T (p.Pro592Leu)	MAGEC1 (P592L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292412	NM_005462.5(MAGEC1):c.2208C>G (p.Phe736Leu)	MAGEC1 (F736L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357235	NM_005462.5(MAGEC1):c.2449T>C (p.Phe817Leu)	MAGEC1 (F817L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311323	NM_005462.5(MAGEC1):c.2614A>G (p.Ser872Gly)	MAGEC1 (S872G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351436	NM_005462.5(MAGEC1):c.2677G>A (p.Asp893Asn)	MAGEC1 (D893N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301081	NM_005462.5(MAGEC1):c.2704C>G (p.Pro902Ala)	MAGEC1 (P902A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552879	NM_005462.5(MAGEC1):c.2714C>T (p.Thr905Ile)	MAGEC1 (T905I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312949	NM_005462.5(MAGEC1):c.2825A>G (p.Tyr942Cys)	MAGEC1 (Y942C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276986	NM_005462.5(MAGEC1):c.2881T>C (p.Phe961Leu)	MAGEC1 (F961L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262626	NM_005462.5(MAGEC1):c.2900A>G (p.Glu967Gly)	MAGEC1 (E967G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542617	NM_005462.5(MAGEC1):c.3106G>A (p.Ala1036Thr)	MAGEC1 (A1036T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622169	NM_005462.5(MAGEC1):c.3130C>G (p.Leu1044Val)	MAGEC1 (L1044V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319356	NM_005462.5(MAGEC1):c.3160C>G (p.Leu1054Val)	MAGEC1 (L1054V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590220	NM_005462.5(MAGEC1):c.3170G>A (p.Arg1057Gln)	MAGEC1 (R1057Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606479	NM_005462.5(MAGEC1):c.3172G>C (p.Glu1058Gln)	MAGEC1 (E1058Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359914	NM_005462.5(MAGEC1):c.3197G>A (p.Arg1066His)	MAGEC1 (R1066H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615598	NM_005462.5(MAGEC1):c.3209T>C (p.Leu1070Pro)	MAGEC1 (L1070P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377853	NM_005462.5(MAGEC1):c.3283G>A (p.Val1095Ile)	MAGEC1 (V1095I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270842	NM_005462.5(MAGEC1):c.3404T>C (p.Met1135Thr)	MAGEC1 (M1135T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282927	NM_005462.5(MAGEC1):c.3407C>T (p.Ser1136Phe)	MAGEC1 (S1136F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323436	NM_005462.5(MAGEC1):c.3422C>G (p.Ser1141Cys)	MAGEC1 (S1141C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 56