ClinVar for Gene (Select 57692) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3122197	NM_020932.3(MAGEE1):c.886G>A (p.Val296Met)	MAGEE1 (V296M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122196	NM_020932.3(MAGEE1):c.677C>A (p.Ala226Asp)	MAGEE1 (A226D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122195	NM_020932.3(MAGEE1):c.59C>T (p.Ala20Val)	MAGEE1 (A20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122194	NM_020932.3(MAGEE1):c.530C>T (p.Pro177Leu)	LOC130068455, MAGEE1 (P177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122193	NM_020932.3(MAGEE1):c.41G>C (p.Arg14Pro)	MAGEE1 (R14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122192	NM_020932.3(MAGEE1):c.2585G>A (p.Arg862Gln)	MAGEE1 (R862Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122191	NM_020932.3(MAGEE1):c.2390T>C (p.Val797Ala)	MAGEE1 (V797A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122190	NM_020932.3(MAGEE1):c.1907G>A (p.Arg636His)	MAGEE1 (R636H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122189	NM_020932.3(MAGEE1):c.1892A>C (p.Glu631Ala)	MAGEE1 (E631A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122188	NM_020932.3(MAGEE1):c.1739A>C (p.Lys580Thr)	MAGEE1 (K580T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122187	NM_020932.3(MAGEE1):c.1694G>A (p.Gly565Glu)	MAGEE1 (G565E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122186	NM_020932.3(MAGEE1):c.1429A>G (p.Asn477Asp)	MAGEE1 (N477D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122184	NM_020932.3(MAGEE1):c.1382T>A (p.Val461Asp)	MAGEE1 (V461D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685711	GRCh37/hg19 Xq13.2-21.31(chrX:73620711-90395211)x1	ABCB7, APOOL +39 more	Copy number loss	not provided	GPathogenic
Select item 2684994	GRCh37/hg19 Xq13.3(chrX:74321567-75907003)x3	ABCB7, MAGEE1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2660952	NM_020932.3(MAGEE1):c.466_501del (p.Ala156_Thr167del)	MAGEE1	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2619539	NM_020932.3(MAGEE1):c.683C>T (p.Pro228Leu)	MAGEE1 (P228L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616614	NM_020932.3(MAGEE1):c.2858T>C (p.Val953Ala)	MAGEE1 (V953A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606363	NM_020932.3(MAGEE1):c.994G>A (p.Val332Met)	MAGEE1 (V332M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594426	NM_020932.3(MAGEE1):c.1213C>A (p.Leu405Met)	MAGEE1 (L405M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594113	NM_020932.3(MAGEE1):c.2161G>T (p.Val721Leu)	MAGEE1 (V721L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524282	NM_020932.3(MAGEE1):c.2175T>A (p.Asp725Glu)	MAGEE1 (D725E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2486417	NM_020932.3(MAGEE1):c.482G>A (p.Ser161Asn)	MAGEE1 (S161N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479100	NM_020932.3(MAGEE1):c.1741A>G (p.Met581Val)	MAGEE1 (M581V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477061	NM_020932.3(MAGEE1):c.2584C>T (p.Arg862Trp)	MAGEE1 (R862W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474273	NM_020932.3(MAGEE1):c.386C>T (p.Thr129Met)	MAGEE1 (T129M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461083	NM_020932.3(MAGEE1):c.914G>A (p.Ser305Asn)	MAGEE1 (S305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458190	NM_020932.3(MAGEE1):c.386C>G (p.Thr129Arg)	MAGEE1 (T129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457783	NM_020932.3(MAGEE1):c.499A>G (p.Thr167Ala)	MAGEE1 (T167A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392469	NM_020932.3(MAGEE1):c.782C>A (p.Pro261Gln)	MAGEE1 (P261Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388718	NM_020932.3(MAGEE1):c.2137T>G (p.Phe713Val)	MAGEE1 (F713V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329203	NM_020932.3(MAGEE1):c.742G>A (p.Val248Met)	MAGEE1 (V248M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325612	NM_020932.3(MAGEE1):c.998C>A (p.Pro333Gln)	MAGEE1 (P333Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317243	NM_020932.3(MAGEE1):c.1321G>A (p.Ala441Thr)	MAGEE1 (A441T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292413	NM_020932.3(MAGEE1):c.2662C>T (p.Arg888Trp)	MAGEE1 (R888W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272391	NM_020932.3(MAGEE1):c.1369A>T (p.Ile457Leu)	MAGEE1 (I457L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268376	NM_020932.3(MAGEE1):c.1571A>C (p.Glu524Ala)	MAGEE1 (E524A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249119	NM_020932.3(MAGEE1):c.1984G>A (p.Glu662Lys)	MAGEE1 (E662K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237139	NM_020932.3(MAGEE1):c.38G>A (p.Arg13His)	MAGEE1 (R13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232184	NM_020932.3(MAGEE1):c.1016A>G (p.Glu339Gly)	MAGEE1 (E339G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2231040	NM_020932.3(MAGEE1):c.1421T>C (p.Met474Thr)	MAGEE1 (M474T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809065	GRCh37/hg19 Xq13.3-21.1(chrX:74946710-76904755)x3	ATRX, FGF16 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808030	GRCh37/hg19 Xq13.3-21.1(chrX:75463914-77297280)x3	ATP7A, PGAM4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526815	GRCh37/hg19 Xq13.2-21.31(chrX:72095006-88455505)	HMGN5, ITM2A +49 more	Copy number gain	not specified	GUncertain significance
Select item 1526804	GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526803	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1339982	GRCh37/hg19 Xq13.3-21.1(chrX:75373284-76555631)x2	MAGEE1, PBDC1	Copy number gain	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 790293	NM_020932.3(MAGEE1):c.374G>A (p.Cys125Tyr)	MAGEE1 (C125Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 more	Copy number loss	not provided	GUncertain significance
Select item 686630	GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1	APOOL, ATP7A +34 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ITGB1BP2, RGN +281 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564859	GRCh37/hg19 Xq13.3-21.1(chrX:75378449-76220379)x2	MAGEE1, PBDC1	Copy number gain	not provided	GUncertain significance
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	ABCB7, ACE2 +415 more	Copy number gain	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	BEX5, BMP15 +541 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ZCCHC12, ZCCHC13 +698 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	See cases	GPathogenic
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	ABCB7, AKAP4 +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	MAGEE1, MAGEE2 +733 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	ABCB7, ABCD1 +506 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	ABCB7, ABCD1 +524 more	Copy number gain	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	ARMCX5-GPRASP2, ARMCX6 +506 more	Copy number gain	See cases	GPathogenic
Select item 442018	GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1	ABCB7, AMER1 +104 more	Copy number loss	See cases	GPathogenic
Select item 441843	GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)	ACSL4, AGTR2 +158 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	EIF2S3, ELF4 +821 more	Copy number loss	See cases	GPathogenic
Select item 394066	GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	ABCB7, AKAP14 +299 more	Copy number gain	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	MAGEB17, MAGEB18 +822 more	Copy number loss	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +504 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	FOXP3, FOXR2 +786 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	MCTS1, MECP2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +504 more	Copy number gain	See cases	GPathogenic

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