ClinVar for Gene (Select 260425) - ClinVar

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Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3122293	NM_001142782.2(MAGI3):c.922A>T (p.Met308Leu)	MAGI3 (M308L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122292	NM_001142782.2(MAGI3):c.80G>T (p.Gly27Val)	MAGI3 (G27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122291	NM_001142782.2(MAGI3):c.4414G>C (p.Gly1472Arg)	MAGI3 (G1472R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122289	NM_001142782.2(MAGI3):c.4003G>A (p.Asp1335Asn)	MAGI3 (D1335N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122288	NM_001142782.2(MAGI3):c.3959C>T (p.Thr1320Met)	MAGI3 (T1320M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122287	NM_001142782.2(MAGI3):c.3797G>A (p.Cys1266Tyr)	MAGI3 (C1266Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122286	NM_001142782.2(MAGI3):c.376A>G (p.Ile126Val)	MAGI3 (I126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122284	NM_001142782.2(MAGI3):c.3620A>C (p.Asn1207Thr)	MAGI3 (N1207T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122283	NM_001142782.2(MAGI3):c.3606C>G (p.His1202Gln)	MAGI3 (H1202Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122282	NM_001142782.2(MAGI3):c.3514A>T (p.Ser1172Cys)	MAGI3 (S1172C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122281	NM_001142782.2(MAGI3):c.3502C>G (p.Pro1168Ala)	MAGI3 (P1168A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122280	NM_001142782.2(MAGI3):c.3451T>A (p.Ser1151Thr)	MAGI3 (S1151T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122279	NM_001142782.2(MAGI3):c.3085C>T (p.Arg1029Trp)	MAGI3 (R1029W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122278	NM_001142782.2(MAGI3):c.2988G>C (p.Lys996Asn)	MAGI3 (K996N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122277	NM_001142782.2(MAGI3):c.259A>G (p.Thr87Ala)	MAGI3 (T87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122276	NM_001142782.2(MAGI3):c.2458G>A (p.Asp820Asn)	MAGI3 (D820N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122275	NM_001142782.2(MAGI3):c.2435A>G (p.Tyr812Cys)	MAGI3 (Y812C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122274	NM_001142782.2(MAGI3):c.2302C>T (p.Arg768Cys)	MAGI3 (R768C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122273	NM_001142782.2(MAGI3):c.2141T>C (p.Leu714Ser)	MAGI3 (L714S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122271	NM_001142782.2(MAGI3):c.2075C>T (p.Pro692Leu)	MAGI3 (P692L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122270	NM_001142782.2(MAGI3):c.2044G>C (p.Glu682Gln)	MAGI3 (E682Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122269	NM_001142782.2(MAGI3):c.1970C>T (p.Pro657Leu)	MAGI3 (P657L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122267	NM_001142782.2(MAGI3):c.140G>A (p.Arg47Gln)	MAGI3 (R47Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122266	NM_001142782.2(MAGI3):c.1400G>C (p.Gly467Ala)	MAGI3 (G467A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122265	NM_001142782.2(MAGI3):c.1012G>A (p.Asp338Asn)	MAGI3 (D338N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685819	GRCh37/hg19 1p13.2(chr1:114121742-114665485)x3	BCL2L15, DCLRE1B +8 more	Copy number gain	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2639000	NM_001142782.2(MAGI3):c.2303G>A (p.Arg768His)	MAGI3 (R768H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2617283	NM_001142782.2(MAGI3):c.2386G>T (p.Ala796Ser)	MAGI3 (A796S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611446	NM_001142782.2(MAGI3):c.1425G>T (p.Gln475His)	MAGI3 (Q475H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602593	NM_001142782.2(MAGI3):c.182C>G (p.Ser61Trp)	MAGI3 (S61W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554677	NM_001142782.2(MAGI3):c.2092G>C (p.Gly698Arg)	MAGI3 (G698R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545622	NM_001142782.2(MAGI3):c.3932G>T (p.Gly1311Val)	MAGI3 (G1311V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538428	NM_001142782.2(MAGI3):c.908A>G (p.Tyr303Cys)	MAGI3 (Y303C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533645	NM_001142782.2(MAGI3):c.3697G>C (p.Glu1233Gln)	MAGI3 (E1233Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510708	NM_001142782.2(MAGI3):c.1631C>T (p.Ser544Leu)	MAGI3 (S544L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509452	NM_001142782.2(MAGI3):c.4006G>A (p.Val1336Ile)	MAGI3 (V1336I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490081	NM_001142782.2(MAGI3):c.2308G>T (p.Ala770Ser)	MAGI3 (A770S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486614	NM_001142782.2(MAGI3):c.1010A>C (p.Glu337Ala)	MAGI3 (E337A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478335	NM_001142782.2(MAGI3):c.1588G>T (p.Asp530Tyr)	MAGI3 (D530Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477984	NM_001142782.2(MAGI3):c.2075C>A (p.Pro692Gln)	MAGI3 (P692Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477127	NM_001142782.2(MAGI3):c.3431A>T (p.His1144Leu)	MAGI3 (H1144L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	CSDE1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance
Select item 2407102	NM_001142782.2(MAGI3):c.4339G>C (p.Glu1447Gln)	MAGI3 (E1447Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393429	NM_001142782.2(MAGI3):c.1912G>A (p.Val638Met)	MAGI3 (V638M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390472	NM_001142782.2(MAGI3):c.3528A>T (p.Glu1176Asp)	MAGI3 (E1176D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367042	NM_001142782.2(MAGI3):c.2777C>G (p.Ala926Gly)	MAGI3 (A926G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360893	NM_001142782.2(MAGI3):c.2819A>T (p.His940Leu)	MAGI3 (H940L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359464	NM_001142782.2(MAGI3):c.1250C>T (p.Thr417Ile)	MAGI3 (T417I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353424	NM_001142782.2(MAGI3):c.1229G>A (p.Arg410Gln)	MAGI3 (R410Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349665	NM_001142782.2(MAGI3):c.3859G>C (p.Ala1287Pro)	MAGI3 (A1287P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330445	NM_001142782.2(MAGI3):c.838A>G (p.Met280Val)	MAGI3 (M280V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313650	NM_001142782.2(MAGI3):c.3935A>G (p.Lys1312Arg)	MAGI3 (K1312R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309549	NM_001142782.2(MAGI3):c.341G>A (p.Arg114Gln)	MAGI3 (R114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304297	NM_001142782.2(MAGI3):c.2263A>G (p.Ile755Val)	MAGI3 (I755V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288168	NM_001142782.2(MAGI3):c.2542G>A (p.Glu848Lys)	MAGI3 (E848K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285308	NM_001142782.2(MAGI3):c.2154A>T (p.Lys718Asn)	MAGI3 (K718N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277720	NM_001142782.2(MAGI3):c.3445G>A (p.Glu1149Lys)	MAGI3 (E1149K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275988	NM_001142782.2(MAGI3):c.2297G>A (p.Arg766Gln)	MAGI3 (R766Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273856	NM_001142782.2(MAGI3):c.3662C>T (p.Ser1221Leu)	MAGI3 (S1221L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261986	NM_001142782.2(MAGI3):c.3278A>G (p.Asn1093Ser)	MAGI3 (N1093S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245401	NM_001142782.2(MAGI3):c.4439G>A (p.Arg1480Gln)	MAGI3 (R1480Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245183	NM_001142782.2(MAGI3):c.1121C>G (p.Ala374Gly)	MAGI3 (A374G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241380	NM_001142782.2(MAGI3):c.1252A>G (p.Met418Val)	MAGI3 (M418V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229412	NM_001142782.2(MAGI3):c.1216G>A (p.Gly406Ser)	MAGI3 (G406S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228437	NM_001142782.2(MAGI3):c.2189G>A (p.Arg730Gln)	MAGI3 (R730Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220434	NM_001142782.2(MAGI3):c.2831C>T (p.Pro944Leu)	MAGI3 (P944L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217574	NM_001142782.2(MAGI3):c.1922A>G (p.Gln641Arg)	MAGI3 (Q641R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209079	NM_001142782.2(MAGI3):c.2297G>C (p.Arg766Pro)	MAGI3 (R766P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 814118	GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1	VANGL1, TSHB +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 788942	NM_001142782.2(MAGI3):c.3963C>T (p.Gly1321=)	MAGI3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 788941	NM_001142782.2(MAGI3):c.669G>A (p.Thr223=)	MAGI3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 692316	NM_001142782.2(MAGI3):c.2565A>T (p.Gln855His)	MAGI3 (Q855H)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441879	GRCh37/hg19 1p13.2(chr1:114011163-114803749)x3	AP4B1, BCL2L15 +8 more	Copy number gain	See cases	GUncertain significance
Select item 394294	GRCh37/hg19 1p13.2(chr1:113385928-114196366)x3	LRIG2, MAGI3 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253907	GRCh37/hg19 1p13.2(chr1:113213652-113947403)x3	CAPZA1, MAGI3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 57493	GRCh38/hg38 1p13.2(chr1:112147402-113470058)x3	CAPZA1, CTTNBP2NL +61 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 87