"GeneDx"[submitter] AND "MAGED2"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 1213451	NM_177433.3(MAGED2):c.-29-50G>T	MAGED2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3372835	NM_177433.3(MAGED2):c.251_252inv (p.Ser84Leu)	MAGED2 (S84L)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1244776	NM_177433.3(MAGED2):c.252A>G (p.Ser84=)	MAGED2	Single nucleotide variant (synonymous variant)	Bartter disease type 5 +1 more	GBenign
Select item 1204984	NM_177433.3(MAGED2):c.316_336del (p.Thr106_Asp112del)	MAGED2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1258035	NM_177433.3(MAGED2):c.396A>G (p.Thr132=)	MAGED2	Single nucleotide variant (synonymous variant)	Bartter disease type 5 +1 more	GBenign
Select item 780709	NM_177433.3(MAGED2):c.561G>C (p.Glu187Asp)	MAGED2 (E187D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1804346	NM_177433.3(MAGED2):c.617_618insG (p.Ala208fs)	MAGED2 (A208fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1279142	NM_177433.3(MAGED2):c.624C>T (p.Ala208=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1308073	NM_177433.3(MAGED2):c.769C>T (p.Arg257Cys)	MAGED2 (R257C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258366	NM_177433.3(MAGED2):c.847-56G>A	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2630257	NM_177433.3(MAGED2):c.934G>T (p.Glu312Ter)	MAGED2 (E312*)	Single nucleotide variant (nonsense)	MAGED2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1278258	NM_177433.3(MAGED2):c.981C>T (p.Ser327=)	MAGED2	Single nucleotide variant (synonymous variant)	Bartter disease type 5 +1 more	GBenign
Select item 1286751	NM_177433.3(MAGED2):c.991-238C>A	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247705	NM_177433.3(MAGED2):c.991-171C>A	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250128	NM_177433.3(MAGED2):c.991-153G>A	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277173	NM_177433.3(MAGED2):c.1085+101A>G	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250750	NM_177433.3(MAGED2):c.1086-287A>G	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221466	NM_177433.3(MAGED2):c.1086-282_1086-277del	MAGED2	Deletion (intron variant)	not provided	GBenign
Select item 1230847	NM_177433.3(MAGED2):c.1166-46C>A	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3363630	NM_177433.3(MAGED2):c.1166-2A>G	MAGED2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1187479	NM_177433.3(MAGED2):c.1208+33G>A	MAGED2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263347	NM_177433.3(MAGED2):c.1208+122G>C	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227221	NM_177433.3(MAGED2):c.1271+30C>T	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289728	NM_177433.3(MAGED2):c.1271+181G>C	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207559	NM_177433.3(MAGED2):c.1272-175C>T	MAGED2, SNORA11	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 226034	NM_177433.3(MAGED2):c.1336C>T (p.Arg446Cys)	MAGED2 (R446C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1343900	NM_177433.3(MAGED2):c.1352C>A (p.Thr451Asn)	MAGED2 (T451N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1228766	NM_177433.3(MAGED2):c.1387-224G>A	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287813	NM_177433.3(MAGED2):c.1387-170C>A	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279167	NM_177433.3(MAGED2):c.1387-113_1387-112insA	MAGED2	Insertion (intron variant)	not provided	GBenign
Select item 1712860	NM_177433.3(MAGED2):c.1426C>T (p.Arg476Ter)	MAGED2 (R476*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1278552	NM_177433.3(MAGED2):c.1443G>A (p.Ala481=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2503126	NM_177433.3(MAGED2):c.1714G>T (p.Gly572Cys)	MAGED2 (G572C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315422	NM_177433.3(MAGED2):c.1753G>T (p.Ala585Ser)	MAGED2 (A585S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206801	NM_177433.3(MAGED2):c.*9-36A>G	MAGED2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253446	GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2	PAGE5, ASB12 +53 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253410	GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3	ZXDB, PHF8 +37 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3360267	NM_177433.3(MAGED2):c.1615G>A (p.Ala539Thr)	MAGED2 (A539T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 56