"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MAGEC1"[ge - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3026261	NM_005462.5(MAGEC1):c.410C>G (p.Ser137Cys)	MAGEC1 (S137C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661554	NM_005462.5(MAGEC1):c.631_840del (p.Leu211_Leu280del)	MAGEC1	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2661555	NM_005462.5(MAGEC1):c.617T>C (p.Phe206Ser)	MAGEC1 (F206S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661556	NM_005462.5(MAGEC1):c.624C>T (p.Ser208=)	MAGEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024854	NM_005462.5(MAGEC1):c.652C>T (p.Pro218Ser)	MAGEC1 (P218S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661557	NM_005462.5(MAGEC1):c.715C>G (p.Pro239Ala)	MAGEC1 (P239A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2661558	NM_005462.5(MAGEC1):c.718T>G (p.Ser240Ala)	MAGEC1 (S240A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3234566	NM_005462.5(MAGEC1):c.723del (p.Ser242fs)	MAGEC1 (S242fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2661559	NM_005462.5(MAGEC1):c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAG (p.Phe252fs)	MAGEC1 (F252fs)	Insertion (frameshift variant)	not provided	GLikely benign
Select item 2661560	NM_005462.5(MAGEC1):c.767C>G (p.Thr256Ser)	MAGEC1 (T256S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661561	NM_005462.5(MAGEC1):c.774T>A (p.Ser258Arg)	MAGEC1 (S258R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661562	NM_005462.5(MAGEC1):c.919_1023del (p.Val307_Pro341del)	MAGEC1	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 3024855	NM_005462.5(MAGEC1):c.919G>A (p.Val307Met)	MAGEC1 (V307M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2346401	NM_005462.5(MAGEC1):c.923G>C (p.Ser308Thr)	MAGEC1 (S308T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2661563	NM_005462.5(MAGEC1):c.1000C>G (p.Pro334Ala)	MAGEC1 (P334A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661564	NM_005462.5(MAGEC1):c.1024A>G (p.Met342Val)	MAGEC1 (M342V)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2661565	NM_005462.5(MAGEC1):c.1044T>C (p.Ser348=)	MAGEC1	Single nucleotide variant (synonymous variant)	not provided	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 2661566	NM_005462.5(MAGEC1):c.1071T>C (p.Ser357=)	MAGEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661567	NM_005462.5(MAGEC1):c.1105C>G (p.Pro369Ala)	MAGEC1 (P369A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2673262	NM_005462.5(MAGEC1):c.1142T>C (p.Phe381Ser)	MAGEC1 (F381S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661568	NM_005462.5(MAGEC1):c.1220C>T (p.Pro407Leu)	MAGEC1 (P407L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2209320	NM_005462.5(MAGEC1):c.1234A>G (p.Met412Val)	MAGEC1 (M412V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2661569	NM_005462.5(MAGEC1):c.1238C>G (p.Thr413Ser)	MAGEC1 (T413S)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2661570	NM_005462.5(MAGEC1):c.1366T>C (p.Leu456=)	MAGEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661571	NM_005462.5(MAGEC1):c.1471_1472insA (p.Leu491fs)	MAGEC1 (L491fs)	Insertion (frameshift variant)	not provided	GLikely benign
Select item 2661572	NM_005462.5(MAGEC1):c.2655G>T (p.Leu885Phe)	MAGEC1 (L885F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic

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Items: 28