ClinVar for Gene (Select 9794) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3122404	NM_014757.5(MAML1):c.938G>T (p.Gly313Val)	MAML1 (G313V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122403	NM_014757.5(MAML1):c.718C>T (p.Leu240Phe)	MAML1 (L240F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122402	NM_014757.5(MAML1):c.58A>G (p.Met20Val)	MAML1 (M20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122400	NM_014757.5(MAML1):c.2999G>A (p.Arg1000Lys)	MAML1 (R1000K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122399	NM_014757.5(MAML1):c.2784G>C (p.Leu928Phe)	MAML1 (L928F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122398	NM_014757.5(MAML1):c.2532G>T (p.Met844Ile)	MAML1 (M844I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122397	NM_014757.5(MAML1):c.2377G>A (p.Val793Ile)	MAML1 (V793I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122396	NM_014757.5(MAML1):c.2363G>A (p.Gly788Asp)	MAML1 (G788D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122395	NM_014757.5(MAML1):c.2358C>G (p.Asn786Lys)	MAML1 (N786K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122394	NM_014757.5(MAML1):c.2312C>T (p.Pro771Leu)	MAML1 (P771L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122393	NM_014757.5(MAML1):c.1985T>A (p.Phe662Tyr)	MAML1 (F662Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122392	NM_014757.5(MAML1):c.161A>G (p.Gln54Arg)	MAML1 (Q54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122391	NM_014757.5(MAML1):c.1586G>C (p.Ser529Thr)	MAML1 (S529T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122390	NM_014757.5(MAML1):c.1537G>A (p.Gly513Ser)	MAML1 (G513S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122389	NM_014757.5(MAML1):c.1507G>A (p.Ala503Thr)	MAML1 (A503T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122388	NM_014757.5(MAML1):c.1496A>G (p.Asn499Ser)	MAML1 (N499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122387	NM_014757.5(MAML1):c.1442A>G (p.Tyr481Cys)	MAML1 (Y481C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122386	NM_014757.5(MAML1):c.1312A>G (p.Ser438Gly)	MAML1 (S438G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122385	NM_014757.5(MAML1):c.1233G>A (p.Met411Ile)	MAML1 (M411I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122384	NM_014757.5(MAML1):c.1022T>A (p.Leu341Gln)	MAML1 (L341Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062874	GRCh37/hg19 5q35.3(chr5:178974997-179632637)x3	C5orf60, CANX +11 more	Copy number gain	not specified	GUncertain significance
Select item 3062850	GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 3062813	GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	ZNF354A, ZNF354B +27 more	Copy number gain	not specified	GPathogenic
Select item 2684437	GRCh37/hg19 5q35.3(chr5:178991938-179400807)x3	C5orf60, CANX +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684436	GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	ADAMTS2, BTNL3 +34 more	Copy number gain	not provided	GUncertain significance
Select item 2656136	NM_014757.5(MAML1):c.663C>T (p.Val221=)	MAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656135	NM_014757.5(MAML1):c.390C>T (p.Tyr130=)	MAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656134	NM_014757.5(MAML1):c.330A>G (p.Thr110=)	MAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623792	NM_014757.5(MAML1):c.451T>C (p.Ser151Pro)	MAML1 (S151P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619358	NM_014757.5(MAML1):c.2640A>T (p.Gln880His)	MAML1 (Q880H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603807	NM_014757.5(MAML1):c.1187C>T (p.Ala396Val)	MAML1 (A396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601708	NM_014757.5(MAML1):c.179A>C (p.His60Pro)	MAML1 (H60P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601666	NM_014757.5(MAML1):c.313A>G (p.Thr105Ala)	MAML1 (T105A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590144	NM_014757.5(MAML1):c.734A>G (p.Asn245Ser)	MAML1 (N245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588213	NM_014757.5(MAML1):c.2122T>C (p.Cys708Arg)	MAML1 (C708R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546342	NM_014757.5(MAML1):c.3037T>A (p.Leu1013Ile)	MAML1 (L1013I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538904	NM_014757.5(MAML1):c.2768C>T (p.Ala923Val)	MAML1 (A923V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538056	NM_014757.5(MAML1):c.2869T>C (p.Cys957Arg)	MAML1 (C957R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521445	NM_014757.5(MAML1):c.2816G>C (p.Gly939Ala)	MAML1 (G939A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490303	NM_014757.5(MAML1):c.1856C>A (p.Ala619Asp)	MAML1 (A619D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487052	NM_014757.5(MAML1):c.1138G>T (p.Val380Leu)	MAML1 (V380L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487051	NM_014757.5(MAML1):c.1109C>A (p.Ala370Asp)	MAML1 (A370D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477319	NM_014757.5(MAML1):c.1780G>A (p.Gly594Arg)	MAML1 (G594R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474943	NM_014757.5(MAML1):c.2165G>A (p.Gly722Asp)	MAML1 (G722D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465348	NM_014757.5(MAML1):c.1990C>T (p.Arg664Cys)	MAML1 (R664C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458168	NM_014757.5(MAML1):c.2605C>A (p.Gln869Lys)	MAML1 (Q869K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457212	NM_014757.5(MAML1):c.611C>G (p.Pro204Arg)	MAML1 (P204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2424787	NC_000005.9:g.(?_178413111)_(179263593_?)dup	ADAMTS2, C5orf60 +11 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 2408561	NM_014757.5(MAML1):c.251C>T (p.Ala84Val)	MAML1 (A84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400629	NM_014757.5(MAML1):c.455C>G (p.Ser152Cys)	MAML1 (S152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391660	NM_014757.5(MAML1):c.2585C>A (p.Ala862Glu)	MAML1 (A862E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390219	NM_014757.5(MAML1):c.494A>T (p.Asp165Val)	MAML1 (D165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389714	NM_014757.5(MAML1):c.2897C>T (p.Ala966Val)	MAML1 (A966V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380638	NM_014757.5(MAML1):c.1042T>C (p.Phe348Leu)	MAML1 (F348L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379199	NM_014757.5(MAML1):c.2918C>T (p.Ala973Val)	MAML1 (A973V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352648	NM_014757.5(MAML1):c.262C>A (p.Pro88Thr)	MAML1 (P88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345059	NM_014757.5(MAML1):c.1430C>A (p.Pro477His)	MAML1 (P477H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344167	NM_014757.5(MAML1):c.241A>C (p.Thr81Pro)	MAML1 (T81P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2331922	NM_014757.5(MAML1):c.1661A>G (p.Gln554Arg)	MAML1 (Q554R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327455	NM_014757.5(MAML1):c.262C>G (p.Pro88Ala)	MAML1 (P88A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326568	NM_014757.5(MAML1):c.1607A>G (p.Lys536Arg)	MAML1 (K536R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311801	NM_014757.5(MAML1):c.482T>G (p.Leu161Arg)	MAML1 (L161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308803	NM_014757.5(MAML1):c.2866C>T (p.His956Tyr)	MAML1 (H956Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306457	NM_014757.5(MAML1):c.341A>C (p.Asn114Thr)	MAML1 (N114T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306405	NM_014757.5(MAML1):c.191T>C (p.Ile64Thr)	MAML1 (I64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299613	NM_014757.5(MAML1):c.269C>G (p.Pro90Arg)	MAML1 (P90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244815	NM_014757.5(MAML1):c.905T>G (p.Phe302Cys)	MAML1 (F302C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240936	NM_014757.5(MAML1):c.2890C>T (p.Arg964Trp)	MAML1 (R964W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238126	NM_014757.5(MAML1):c.353C>T (p.Ala118Val)	MAML1 (A118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216919	NM_014757.5(MAML1):c.2749C>G (p.Pro917Ala)	MAML1 (P917A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214865	NM_014757.5(MAML1):c.1432G>A (p.Gly478Arg)	MAML1 (G478R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212513	NM_014757.5(MAML1):c.1259C>T (p.Pro420Leu)	MAML1 (P420L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208922	NM_014757.5(MAML1):c.1352G>A (p.Ser451Asn)	MAML1 (S451N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208317	NM_014757.5(MAML1):c.2027C>T (p.Pro676Leu)	MAML1 (P676L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206887	NM_014757.5(MAML1):c.2821T>C (p.Phe941Leu)	MAML1 (F941L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205627	NM_014757.5(MAML1):c.2597T>A (p.Phe866Tyr)	MAML1 (F866Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809328	GRCh37/hg19 5q35.3(chr5:177746012-179975280)x3	ADAMTS2, C5orf60 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1809056	GRCh37/hg19 5q35.3(chr5:178947702-179645244)x3	C5orf60, CANX +11 more	Copy number gain	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527210	GRCh37/hg19 5q35.3(chr5:179082801-179409280)	CANX, CBY3 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527209	GRCh37/hg19 5q35.3(chr5:178860745-179534363)	C5orf60, CANX +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527207	GRCh37/hg19 5q35.3(chr5:177954576-180198875)	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 1042381	NC_000005.9:g.(?_178699902)_(179263603_?)dup	CBY3, ADAMTS2 +8 more	Duplication	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 1023048	NC_000005.9:g.(?_178770758)_(179263603_?)dup	ADAMTS2, C5orf60 +8 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 814763	GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4	ADAMTS2, BTNL3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 773178	NM_014757.5(MAML1):c.2713C>G (p.Pro905Ala)	MAML1 (P905A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773177	NM_014757.5(MAML1):c.2471C>T (p.Pro824Leu)	MAML1 (P824L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769312	NM_014757.5(MAML1):c.289G>C (p.Gly97Arg)	MAML1 (G97R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 719905	NM_014757.5(MAML1):c.1374C>T (p.Asp458=)	MAML1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 717077	NM_014757.5(MAML1):c.569G>A (p.Arg190His)	MAML1 (R190H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716349	NM_014757.5(MAML1):c.2070G>A (p.Gly690=)	MAML1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689251	GRCh37/hg19 5q35.3(chr5:179180782-179231973)x3	LTC4S, MAML1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 635776	GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3	SQSTM1, MRNIP +9 more	Copy number gain	Sensorineural hearing loss disorder	GUncertain significance
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic

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