ClinVar for Gene (Select 10916) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292663	NM_177433.3(MAGED2):c.1670A>G (p.Asn557Ser)	MAGED2 (N557S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292661	NM_177433.3(MAGED2):c.767G>A (p.Arg256His)	MAGED2 (R256H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292660	NM_177433.3(MAGED2):c.692G>A (p.Arg231Lys)	MAGED2 (R231K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251001	NM_177433.3(MAGED2):c.92T>C (p.Leu31Ser)	MAGED2 (L31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3122183	NM_177433.3(MAGED2):c.613G>A (p.Val205Ile)	MAGED2 (V205I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122182	NM_177433.3(MAGED2):c.506G>A (p.Arg169Gln)	MAGED2 (R169Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122181	NM_177433.3(MAGED2):c.377T>A (p.Val126Asp)	MAGED2 (V126D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122180	NM_177433.3(MAGED2):c.1718C>T (p.Ala573Val)	MAGED2 (A573V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122179	NM_177433.3(MAGED2):c.128C>T (p.Pro43Leu)	MAGED2 (P43L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3061845	NM_177433.3(MAGED2):c.968G>A (p.Arg323Gln)	MAGED2 (R323Q)	Single nucleotide variant (missense variant)	Bartter disease type 5	GUncertain significance
Select item 3053493	NM_177433.3(MAGED2):c.633C>T (p.Ala211=)	MAGED2	Single nucleotide variant (synonymous variant)	MAGED2-related disorder	GLikely benign
Select item 2979328	NM_177433.3(MAGED2):c.987G>A (p.Glu329=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893515	NM_177433.3(MAGED2):c.1191G>A (p.Lys397=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2876461	NM_177433.3(MAGED2):c.1085C>T (p.Thr362Met)	MAGED2 (T362M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874012	NM_177433.3(MAGED2):c.290C>G (p.Ala97Gly)	MAGED2 (A97G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871239	NM_177433.3(MAGED2):c.1755T>A (p.Ala585=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2867392	NM_177433.3(MAGED2):c.303T>C (p.Ser101=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2867335	NM_177433.3(MAGED2):c.1557C>T (p.Asp519=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2865852	NM_177433.3(MAGED2):c.910+15A>G	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2808174	NM_177433.3(MAGED2):c.882C>T (p.Asp294=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2790997	NM_177433.3(MAGED2):c.759C>T (p.Gly253=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762939	NM_177433.3(MAGED2):c.341A>G (p.Gln114Arg)	MAGED2 (Q114R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2709401	NM_177433.3(MAGED2):c.1521C>T (p.Leu507=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2700715	NM_177433.3(MAGED2):c.990+1G>A	MAGED2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2687474	NM_177433.3(MAGED2):c.1271+4_1271+7del	MAGED2	Microsatellite (splice donor variant)	Bartter disease type 5	GPathogenic
Select item 2685748	GRCh37/hg19 Xp11.22-11.21(chrX:54123342-55013132)x2	FAM120C, FGD1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2683589	NM_177433.3(MAGED2):c.343G>C (p.Ala115Pro)	MAGED2 (A115P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660676	NM_177433.3(MAGED2):c.1363A>G (p.Lys455Glu)	MAGED2 (K455E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660675	NM_177433.3(MAGED2):c.699G>C (p.Arg233=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630257	NM_177433.3(MAGED2):c.934G>T (p.Glu312Ter)	MAGED2 (E312*)	Single nucleotide variant (nonsense)	MAGED2-related disorder	GLikely pathogenic
Select item 2619319	NM_177433.3(MAGED2):c.251C>T (p.Ser84Leu)	MAGED2 (S84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582619	NM_177433.3(MAGED2):c.990G>A (p.Lys330=)	MAGED2	Single nucleotide variant (synonymous variant)	Bartter disease type 5	GUncertain significance
Select item 2575215	NM_177433.3(MAGED2):c.262C>T (p.Gln88Ter)	MAGED2 (Q88*)	Single nucleotide variant (nonsense)	Bartter disease type 5	GPathogenic
Select item 2533558	NM_177433.3(MAGED2):c.1768G>A (p.Ala590Thr)	MAGED2 (A590T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532554	NM_177433.3(MAGED2):c.821G>A (p.Arg274Gln)	MAGED2 (R274Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 2487050	NM_177433.3(MAGED2):c.1238A>G (p.Lys413Arg)	MAGED2 (K413R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433602	NM_177433.3(MAGED2):c.1425C>G (p.Tyr475Ter)	MAGED2 (Y475*)	Single nucleotide variant (nonsense)	Bartter disease type 5	GUncertain significance
Select item 2425562	NC_000023.10:g.(?_53222149)_(55057617_?)del	ALAS2, APEX2 +19 more	Deletion	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2420281	NM_177433.3(MAGED2):c.554G>C (p.Gly185Ala)	MAGED2 (G185A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2331618	NM_177433.3(MAGED2):c.449C>A (p.Ala150Glu)	MAGED2 (A150E)	Single nucleotide variant (missense variant)	MAGED2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2309205	NM_177433.3(MAGED2):c.629T>C (p.Met210Thr)	MAGED2 (M210T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304039	NM_177433.3(MAGED2):c.991-6C>T	MAGED2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2299028	NM_177433.3(MAGED2):c.1762G>A (p.Gly588Ser)	MAGED2 (G588S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2237419	NM_177433.3(MAGED2):c.344C>T (p.Ala115Val)	MAGED2 (A115V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230660	NM_177433.3(MAGED2):c.812C>A (p.Pro271Gln)	MAGED2 (P271Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2180197	NM_177433.3(MAGED2):c.1166C>G (p.Ala389Gly)	MAGED2 (A389G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2137976	NM_177433.3(MAGED2):c.480C>T (p.Ala160=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2113427	NM_177433.3(MAGED2):c.1662T>C (p.Ser554=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2110605	NM_177433.3(MAGED2):c.1272-15A>C	MAGED2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2096189	NM_177433.3(MAGED2):c.457C>T (p.Pro153Ser)	MAGED2 (P153S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088151	NM_177433.3(MAGED2):c.1208+16C>T	MAGED2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2087025	NM_177433.3(MAGED2):c.1306C>T (p.Pro436Ser)	MAGED2 (P436S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053480	NM_177433.3(MAGED2):c.1166-5C>T	MAGED2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2044869	NM_177433.3(MAGED2):c.1293C>T (p.Val431=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042271	NM_177433.3(MAGED2):c.1453G>T (p.Ala485Ser)	MAGED2 (A485S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025001	NM_177433.3(MAGED2):c.1490C>T (p.Ala497Val)	MAGED2 (A497V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2021312	NM_177433.3(MAGED2):c.1387-20G>A	MAGED2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1985219	NM_177433.3(MAGED2):c.61A>G (p.Lys21Glu)	MAGED2 (K21E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976176	NM_177433.3(MAGED2):c.1272-9C>G	MAGED2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1972506	NM_177433.3(MAGED2):c.1215T>G (p.His405Gln)	MAGED2 (H405Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972064	NM_177433.3(MAGED2):c.338C>T (p.Pro113Leu)	MAGED2 (P113L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1971521	NM_177433.3(MAGED2):c.1683C>T (p.Ala561=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948858	NM_177433.3(MAGED2):c.1687G>A (p.Ala563Thr)	MAGED2 (A563T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808241	GRCh37/hg19 Xp11.22-11.21(chrX:53854115-54953273)x2	FAM120C, FGD1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1807829	GRCh37/hg19 Xp11.22-q11.2(chrX:53731940-63932866)x3	ALAS2, AMER1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 1805201	NM_177433.3(MAGED2):c.1386+1G>A	MAGED2	Single nucleotide variant (splice donor variant)	Bartter disease type 5	GLikely pathogenic
Select item 1804346	NM_177433.3(MAGED2):c.617_618insG (p.Ala208fs)	MAGED2 (A208fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1712860	NM_177433.3(MAGED2):c.1426C>T (p.Arg476Ter)	MAGED2 (R476*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1695306	NM_177433.3(MAGED2):c.1085_1085+12del	MAGED2	Deletion (splice donor variant)	not provided	GPathogenic
Select item 1604574	NM_177433.3(MAGED2):c.910+18C>G	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526799	GRCh37/hg19 Xp11.22-11.21(chrX:52881435-55684871)	ALAS2, APEX2 +33 more	Copy number gain	not specified	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 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1340693	GRCh37/hg19 Xp11.22-11.21(chrX:52901458-55684871)x2	ALAS2, APEX2 +32 more	Copy number gain	not provided	GPathogenic
Select item 1335774	NM_177433.3(MAGED2):c.852T>C (p.Asn284=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1308073	NM_177433.3(MAGED2):c.769C>T (p.Arg257Cys)	MAGED2 (R257C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289728	NM_177433.3(MAGED2):c.1271+181G>C	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 1286751	NM_177433.3(MAGED2):c.991-238C>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 1279142	NM_177433.3(MAGED2):c.624C>T (p.Ala208=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1278552	NM_177433.3(MAGED2):c.1443G>A (p.Ala481=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 1277173	NM_177433.3(MAGED2):c.1085+101A>G	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263347	NM_177433.3(MAGED2):c.1208+122G>C	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258366	NM_177433.3(MAGED2):c.847-56G>A	MAGED2	Single nucleotide variant (intron variant)	not provided	GBenign
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

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