MAGI1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 104

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +106 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 150373	GRCh38/hg38 3p14.1(chr3:65157318-65536414)x1	LINC02040, MAGI1	Copy number loss	See cases	GUncertain significance
Select item 2257383	NM_001033057.2(MAGI1):c.4105C>T (p.Arg1369Trp)	MAGI1 (R1369W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681384	NM_001033057.2(MAGI1):c.4063C>T (p.Arg1355Ter)	MAGI1 (R1355*)	Single nucleotide variant (nonsense +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2234757	NM_001033057.2(MAGI1):c.3670C>T (p.Pro1224Ser)	MAGI1 (P1224S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122244	NM_001033057.2(MAGI1):c.3584G>A (p.Arg1195His)	MAGI1 (R1224H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122243	NM_001033057.2(MAGI1):c.3575A>G (p.Asn1192Ser)	MAGI1 (N1221S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242438	NM_001033057.2(MAGI1):c.3451C>T (p.Arg1151Cys)	MAGI1 (R1181C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334604	NM_001033057.2(MAGI1):c.3251C>A (p.Thr1084Asn)	MAGI1 (T1084N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477589	NM_001033057.2(MAGI1):c.3212C>A (p.Thr1071Asn)	MAGI1 (T1100N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323932	NM_001033057.2(MAGI1):c.3103G>A (p.Gly1035Arg)	MAGI1 (G1063R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622410	NM_001033057.2(MAGI1):c.2996G>T (p.Gly999Val)	MAGI1 (G1029V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534962	NM_001033057.2(MAGI1):c.2923C>T (p.Arg975Cys)	MAGI1 (R1004C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214842	NM_001033057.2(MAGI1):c.2911G>A (p.Val971Met)	MAGI1 (V1000M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480719	NM_001033057.2(MAGI1):c.2875A>G (p.Ser959Gly)	MAGI1 (S959G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122240	NM_001033057.2(MAGI1):c.2857A>C (p.Ser953Arg)	MAGI1 (S981R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122239	NM_001033057.2(MAGI1):c.2786G>A (p.Arg929His)	MAGI1 (R929H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561625	NM_001033057.2(MAGI1):c.2779G>C (p.Glu927Gln)	MAGI1 (E955Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395435	NM_001033057.2(MAGI1):c.2719G>A (p.Glu907Lys)	MAGI1 (E907K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122237	NM_001033057.2(MAGI1):c.2699C>T (p.Ala900Val)	MAGI1 (A928V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373939	NM_001033057.2(MAGI1):c.2564G>C (p.Arg855Thr)	MAGI1 (R855T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516849	NM_001033057.2(MAGI1):c.2557C>T (p.Arg853Cys)	MAGI1 (R881C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476591	NM_001033057.2(MAGI1):c.2527G>A (p.Val843Ile)	MAGI1 (V872I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271131	NM_001033057.2(MAGI1):c.2435A>T (p.Gln812Leu)	MAGI1 (Q841L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122236	NM_001033057.2(MAGI1):c.2410A>C (p.Asn804His)	MAGI1 (N804H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122235	NM_001033057.2(MAGI1):c.2409A>C (p.Glu803Asp)	MAGI1 (E803D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122234	NM_001033057.2(MAGI1):c.2408A>C (p.Glu803Ala)	MAGI1 (E803A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559682	NM_001033057.2(MAGI1):c.2393C>G (p.Ser798Cys)	MAGI1 (S798C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464826	NM_001033057.2(MAGI1):c.2365C>A (p.Pro789Thr)	MAGI1 (P789T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548705	NM_001033057.2(MAGI1):c.2305G>A (p.Glu769Lys)	MAGI1 (E770K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234806	NM_001033057.2(MAGI1):c.2234C>T (p.Ser745Phe)	MAGI1 (S745F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122232	NM_001033057.2(MAGI1):c.2204C>T (p.Pro735Leu)	MAGI1 (P735L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653949	NM_001033057.2(MAGI1):c.2109G>A (p.Val703=)	MAGI1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2490790	NM_001033057.2(MAGI1):c.2086G>A (p.Ala696Thr)	MAGI1 (A696T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289712	NM_001033057.2(MAGI1):c.2086G>C (p.Ala696Pro)	MAGI1 (A696P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292702	NM_001033057.2(MAGI1):c.2007A>T (p.Lys669Asn)	MAGI1 (K669N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249120	NM_001033057.2(MAGI1):c.1951A>T (p.Met651Leu)	MAGI1 (M652L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217497	NM_001033057.2(MAGI1):c.1871A>G (p.Tyr624Cys)	MAGI1 (Y624C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536159	NM_001033057.2(MAGI1):c.1862C>G (p.Ser621Cys)	MAGI1 (S621C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570207	NM_001033057.2(MAGI1):c.1822G>A (p.Ala608Thr)	MAGI1 (A608T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122231	NM_001033057.2(MAGI1):c.1633G>A (p.Gly545Ser)	MAGI1 (G546S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122230	NM_001033057.2(MAGI1):c.1382G>A (p.Arg461Gln)	MAGI1 (R462Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122229	NM_001033057.2(MAGI1):c.1294C>G (p.Leu432Val)	MAGI1 (L432V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769607	NM_001033057.2(MAGI1):c.1234CAG[11] (p.Gln421dup)	MAGI1	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2653950	NM_001033057.2(MAGI1):c.1224G>A (p.Gln408=)	MAGI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653951	NM_001033057.2(MAGI1):c.1212G>A (p.Gln404=)	MAGI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2332716	NM_001033057.2(MAGI1):c.1124T>C (p.Ile375Thr)	MAGI1 (I376T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 380114	NM_001033057.2(MAGI1):c.1123A>G (p.Ile375Val)	MAGI1 (I375V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2282855	NM_001033057.2(MAGI1):c.1067A>T (p.Asp356Val)	MAGI1 (D356V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595883	NM_001033057.2(MAGI1):c.1062G>T (p.Glu354Asp)	MAGI1 (E354D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296182	NM_001033057.2(MAGI1):c.929A>C (p.Tyr310Ser)	MAGI1 (Y311S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223281	NM_001033057.2(MAGI1):c.835C>T (p.Pro279Ser)	MAGI1 (P280S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653952	NM_001033057.2(MAGI1):c.782A>G (p.His261Arg)	MAGI1 (H261R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653953	NM_001033057.2(MAGI1):c.763T>A (p.Ser255Thr)	MAGI1 (S255T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653954	NM_001033057.2(MAGI1):c.761A>T (p.Asp254Val)	MAGI1 (D254V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2489535	NM_001033057.2(MAGI1):c.713A>G (p.Asn238Ser)	MAGI1 (N238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292698	NM_001033057.2(MAGI1):c.707C>T (p.Ala236Val)	MAGI1 (A236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262254	NM_001033057.2(MAGI1):c.694G>T (p.Gly232Cys)	MAGI1 (G232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263440	NM_001033057.2(MAGI1):c.688A>G (p.Asn230Asp)	MAGI1 (N230D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313243	NM_001033057.2(MAGI1):c.677A>G (p.Asn226Ser)	MAGI1 (N226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588564	NM_001033057.2(MAGI1):c.641C>G (p.Ser214Cys)	MAGI1 (S214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292701	NM_001033057.2(MAGI1):c.581G>A (p.Ser194Asn)	MAGI1 (S194N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304480	NM_001033057.2(MAGI1):c.571A>G (p.Lys191Glu)	MAGI1 (K191E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345808	NM_001033057.2(MAGI1):c.557A>C (p.Tyr186Ser)	MAGI1 (Y186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152120	GRCh38/hg38 3p14.1(chr3:65485083-67218667)x3	KBTBD8, LOC105377143 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2230508	NM_001033057.2(MAGI1):c.463C>T (p.Pro155Ser)	MAGI1 (P155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151736	GRCh38/hg38 3p14.1(chr3:65536355-65582844)x3	MAGI1	Copy number gain	See cases	GLikely benign
Select item 148873	GRCh38/hg38 3p14.1(chr3:65536355-66319200)x3	LOC123000067, LOC123000068 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2507499	NM_001033057.2(MAGI1):c.415C>T (p.Arg139Cys)	MAGI1 (R139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541210	NM_001033057.2(MAGI1):c.406A>C (p.Asn136His)	MAGI1 (N136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537320	NM_001033057.2(MAGI1):c.356G>A (p.Arg119Gln)	MAGI1 (R119Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488776	NM_001033057.2(MAGI1):c.356G>T (p.Arg119Leu)	MAGI1 (R119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122242	NM_001033057.2(MAGI1):c.350A>G (p.Asn117Ser)	MAGI1 (N117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357679	NM_001033057.2(MAGI1):c.341A>G (p.His114Arg)	MAGI1 (H114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57732	GRCh38/hg38 3p14.1(chr3:65790274-66728325)x3	LOC111562376, LOC123000067 +21 more	Copy number gain	See cases	GUncertain significance
Select item 146835	GRCh38/hg38 3p14.1(chr3:65939499-66269258)x3	LOC123000069, LOC126806705 +6 more	Copy number gain	See cases	GLikely benign
Select item 3122241	NM_001033057.2(MAGI1):c.301G>A (p.Ala101Thr)	MAGI1 (A101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376372	NM_001033057.2(MAGI1):c.292A>G (p.Thr98Ala)	MAGI1 (T98A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122238	NM_001033057.2(MAGI1):c.275G>A (p.Ser92Asn)	MAGI1 (S92N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598123	NM_001033057.2(MAGI1):c.107C>G (p.Ala36Gly)	MAGI1 (A36G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292700	NM_001033057.2(MAGI1):c.91A>T (p.Thr31Ser)	MAGI1 (T31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292703	NM_001033057.2(MAGI1):c.76G>A (p.Gly26Ser)	MAGI1 (G26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297193	NM_001033057.2(MAGI1):c.24G>T (p.Lys8Asn)	MAGI1 (K8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062721	GRCh37/hg19 3p14.1(chr3:65510176-66372903)x3	MAGI1	Copy number gain	not specified	GUncertain significance
Select item 3062713	GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not specified	GPathogenic
Select item 2423906	NC_000003.11:g.(?_65762253)_(66313823_?)dup	MAGI1, SLC25A26	Duplication	not provided	GUncertain significance
Select item 1809011	GRCh37/hg19 3p14.1(chr3:65489460-65780869)x1	MAGI1	Copy number loss	not provided	GUncertain significance
Select item 1808122	GRCh37/hg19 3p14.1(chr3:65448162-67283742)x3	KBTBD8, LRIG1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1341307	GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not provided	GPathogenic
Select item 1340768	GRCh37/hg19 3p14.1(chr3:65557424-65753176)x1	MAGI1	Copy number loss	not provided	GUncertain significance
Select item 814451	GRCh37/hg19 3p14.1(chr3:65459431-67283891)x3	MAGI1, KBTBD8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814449	GRCh37/hg19 3p14.2-14.1(chr3:60449667-65561638)x1	SYNPR, ATXN7 +11 more	Copy number loss	not provided	GPathogenic
Select item 687178	GRCh37/hg19 3p14.1(chr3:65501386-66372903)x4	MAGI1	Copy number gain	not provided	GUncertain significance
Select item 687090	GRCh37/hg19 3p14.1(chr3:65971545-66094088)x3	MAGI1	Copy number gain	not provided	GUncertain significance
Select item 685671	GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1	ABHD6, ACOX2 +34 more	Copy number loss	not provided	GPathogenic
Select item 562780	GRCh37/hg19 3p14.1(chr3:65609952-65661896)x1	MAGI1	Copy number loss	not provided	GLikely benign
Select item 562779	GRCh37/hg19 3p14.1(chr3:65502771-66378999)x3	MAGI1	Copy number gain	not provided	GUncertain significance

<< First< Prev

Page of 2