ClinVar for Gene (Select 10514) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365986	NM_014520.4(MYBBP1A):c.2480G>T (p.Arg827Leu)	MYBBP1A (R827L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365985	NM_014520.4(MYBBP1A):c.1052A>G (p.Glu351Gly)	MYBBP1A (E351G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3348970	NM_014520.4(MYBBP1A):c.3579G>C (p.Glu1193Asp)	MYBBP1A (E1193D)	Single nucleotide variant (missense variant)	MYBBP1A-related condition	GUncertain significance
Select item 3297179	NM_014520.4(MYBBP1A):c.439G>T (p.Gly147Cys)	MYBBP1A (G147C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297178	NM_014520.4(MYBBP1A):c.3665C>T (p.Ala1222Val)	MYBBP1A (A1222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297177	NM_014520.4(MYBBP1A):c.3182C>T (p.Ala1061Val)	MYBBP1A (A1061V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297175	NM_014520.4(MYBBP1A):c.2074G>A (p.Val692Met)	MYBBP1A (V692M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297174	NM_014520.4(MYBBP1A):c.2830C>T (p.His944Tyr)	MYBBP1A (H944Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297173	NM_014520.4(MYBBP1A):c.3796G>A (p.Gly1266Arg)	MYBBP1A (G1266R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3297172	NM_014520.4(MYBBP1A):c.1073C>A (p.Thr358Asn)	MYBBP1A (T358N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297171	NM_014520.4(MYBBP1A):c.2351A>C (p.Glu784Ala)	MYBBP1A (E784A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297170	NM_014520.4(MYBBP1A):c.3698C>T (p.Pro1233Leu)	MYBBP1A (P1233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297169	NM_014520.4(MYBBP1A):c.3551G>A (p.Arg1184His)	MYBBP1A (R1184H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297168	NM_014520.4(MYBBP1A):c.2659C>T (p.Arg887Trp)	MYBBP1A (R887W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297167	NM_014520.4(MYBBP1A):c.2905T>G (p.Leu969Val)	MYBBP1A (L969V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297166	NM_014520.4(MYBBP1A):c.1901G>C (p.Arg634Pro)	MYBBP1A (R634P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297164	NM_014520.4(MYBBP1A):c.1186C>T (p.Arg396Trp)	MYBBP1A (R396W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297163	NM_014520.4(MYBBP1A):c.3877T>C (p.Ser1293Pro)	MYBBP1A (S1293P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297162	NM_014520.4(MYBBP1A):c.2882C>T (p.Thr961Met)	MYBBP1A (T961M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297161	NM_014520.4(MYBBP1A):c.610G>A (p.Asp204Asn)	MYBBP1A (D204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297160	NM_014520.4(MYBBP1A):c.2111G>A (p.Arg704His)	MYBBP1A (R704H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3297159	NM_014520.4(MYBBP1A):c.347A>C (p.Gln116Pro)	MYBBP1A (Q116P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297158	NM_014520.4(MYBBP1A):c.950C>G (p.Thr317Ser)	MYBBP1A (T317S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3297157	NM_014520.4(MYBBP1A):c.3676G>A (p.Gly1226Arg)	MYBBP1A (G1226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297156	NM_014520.4(MYBBP1A):c.1595C>T (p.Pro532Leu)	MYBBP1A (P532L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3238929	NM_014520.4(MYBBP1A):c.2419C>T (p.Arg807Trp)	MYBBP1A (R807W)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3238928	NM_014520.4(MYBBP1A):c.2551C>T (p.Pro851Ser)	MYBBP1A (P851S)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3238927	NM_014520.4(MYBBP1A):c.2906T>A (p.Leu969Ter)	MYBBP1A (L969*)	Single nucleotide variant (nonsense)	Meniere disease	GUncertain significance
Select item 3238925	NM_014520.4(MYBBP1A):c.3349C>T (p.Gln1117Ter)	MYBBP1A (Q1117*)	Single nucleotide variant (nonsense)	Meniere disease	GUncertain significance
Select item 3153463	NM_014520.4(MYBBP1A):c.632C>G (p.Ser211Cys)	MYBBP1A (S211C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153448	NM_014520.4(MYBBP1A):c.455A>C (p.Asp152Ala)	MYBBP1A (D152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153435	NM_014520.4(MYBBP1A):c.3899C>T (p.Ala1300Val)	MYBBP1A (A1300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153425	NM_014520.4(MYBBP1A):c.3718C>T (p.Arg1240Trp)	MYBBP1A (R1240W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153421	NM_014520.4(MYBBP1A):c.3641A>G (p.Asn1214Ser)	MYBBP1A (N1214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153416	NM_014520.4(MYBBP1A):c.3626G>A (p.Gly1209Asp)	MYBBP1A (G1209D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153411	NM_014520.4(MYBBP1A):c.3541C>T (p.Arg1181Cys)	MYBBP1A (R1181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153408	NM_014520.4(MYBBP1A):c.3533C>T (p.Thr1178Met)	MYBBP1A (T1178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153388	NM_014520.4(MYBBP1A):c.3437G>A (p.Arg1146His)	MYBBP1A (R1146H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153380	NM_014520.4(MYBBP1A):c.3427G>A (p.Gly1143Arg)	MYBBP1A (G1143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153371	NM_014520.4(MYBBP1A):c.3388C>T (p.Arg1130Cys)	MYBBP1A (R1130C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153361	NM_014520.4(MYBBP1A):c.3269A>G (p.Asn1090Ser)	MYBBP1A (N1090S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153350	NM_014520.4(MYBBP1A):c.3211G>A (p.Gly1071Arg)	MYBBP1A (G1071R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153347	NM_014520.4(MYBBP1A):c.3202C>G (p.Arg1068Gly)	MYBBP1A (R1068G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153342	NM_014520.4(MYBBP1A):c.3134C>T (p.Ser1045Leu)	MYBBP1A (S1045L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153337	NM_014520.4(MYBBP1A):c.3121C>T (p.Arg1041Trp)	MYBBP1A (R1041W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153330	NM_014520.4(MYBBP1A):c.3068C>T (p.Pro1023Leu)	MYBBP1A (P1023L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153321	NM_014520.4(MYBBP1A):c.3055C>T (p.His1019Tyr)	MYBBP1A (H1019Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153315	NM_014520.4(MYBBP1A):c.3054G>T (p.Gln1018His)	MYBBP1A (Q1018H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153307	NM_014520.4(MYBBP1A):c.3001C>T (p.Leu1001Phe)	MYBBP1A (L1001F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153302	NM_014520.4(MYBBP1A):c.2792T>C (p.Leu931Pro)	MYBBP1A (L931P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153288	NM_014520.4(MYBBP1A):c.2717G>A (p.Arg906Gln)	MYBBP1A (R906Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153282	NM_014520.4(MYBBP1A):c.2704G>A (p.Ala902Thr)	MYBBP1A (A902T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153276	NM_014520.4(MYBBP1A):c.2686C>T (p.Arg896Cys)	MYBBP1A (R896C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153263	NM_014520.4(MYBBP1A):c.2656G>C (p.Ala886Pro)	MYBBP1A (A886P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153246	NM_014520.4(MYBBP1A):c.2569C>T (p.Arg857Trp)	MYBBP1A (R857W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153242	NM_014520.4(MYBBP1A):c.2552C>G (p.Pro851Arg)	MYBBP1A (P851R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153236	NM_014520.4(MYBBP1A):c.2480G>A (p.Arg827Gln)	MYBBP1A (R827Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153225	NM_014520.4(MYBBP1A):c.2462G>A (p.Arg821Gln)	MYBBP1A (R821Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153196	NM_014520.4(MYBBP1A):c.2278C>A (p.Leu760Met)	MYBBP1A (L760M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153186	NM_014520.4(MYBBP1A):c.2269C>T (p.Arg757Trp)	MYBBP1A (R757W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153177	NM_014520.4(MYBBP1A):c.2248G>A (p.Gly750Arg)	MYBBP1A (G750R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153161	NM_014520.4(MYBBP1A):c.2166G>C (p.Lys722Asn)	MYBBP1A (K722N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153134	NM_014520.4(MYBBP1A):c.2098G>A (p.Asp700Asn)	MYBBP1A (D700N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153126	NM_014520.4(MYBBP1A):c.2039A>T (p.His680Leu)	MYBBP1A (H680L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153124	NM_014520.4(MYBBP1A):c.19G>A (p.Ala7Thr)	MYBBP1A (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153121	NM_014520.4(MYBBP1A):c.1930G>A (p.Glu644Lys)	MYBBP1A (E644K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153110	NM_014520.4(MYBBP1A):c.1865C>T (p.Thr622Ile)	MYBBP1A (T622I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153093	NM_014520.4(MYBBP1A):c.1747C>G (p.Leu583Val)	MYBBP1A (L583V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153085	NM_014520.4(MYBBP1A):c.1723C>T (p.Arg575Trp)	MYBBP1A (R575W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153073	NM_014520.4(MYBBP1A):c.1694T>G (p.Phe565Cys)	MYBBP1A (F565C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153063	NM_014520.4(MYBBP1A):c.1623G>T (p.Trp541Cys)	MYBBP1A (W541C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153023	NM_014520.4(MYBBP1A):c.1307C>T (p.Ser436Leu)	MYBBP1A (S436L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153017	NM_014520.4(MYBBP1A):c.1187G>A (p.Arg396Gln)	MYBBP1A (R396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153009	NM_014520.4(MYBBP1A):c.1109A>C (p.Gln370Pro)	MYBBP1A (Q370P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647265	NM_014520.4(MYBBP1A):c.358G>C (p.Asp120His)	MYBBP1A (D120H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647264	NM_014520.4(MYBBP1A):c.720A>G (p.Ser240=)	MYBBP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647263	NM_014520.4(MYBBP1A):c.1000G>A (p.Gly334Arg)	MYBBP1A (G334R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647262	NM_014520.4(MYBBP1A):c.1532A>G (p.Glu511Gly)	MYBBP1A (E511G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647261	NM_014520.4(MYBBP1A):c.3018G>A (p.Pro1006=)	MYBBP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647260	NM_014520.4(MYBBP1A):c.3789A>T (p.Gly1263=)	MYBBP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615636	NM_014520.4(MYBBP1A):c.2381C>T (p.Ala794Val)	MYBBP1A (A794V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614730	NM_014520.4(MYBBP1A):c.1972C>G (p.Leu658Val)	MYBBP1A (L658V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603008	NM_014520.4(MYBBP1A):c.2660G>A (p.Arg887Gln)	MYBBP1A (R887Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598222	NM_014520.4(MYBBP1A):c.2674G>A (p.Asp892Asn)	MYBBP1A (D892N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595130	NM_014520.4(MYBBP1A):c.553C>G (p.Leu185Val)	MYBBP1A (L185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593029	NM_014520.4(MYBBP1A):c.1328G>A (p.Arg443Gln)	MYBBP1A (R443Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590123	NM_014520.4(MYBBP1A):c.2464C>T (p.Arg822Cys)	MYBBP1A (R822C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2562318	NM_014520.4(MYBBP1A):c.2855C>G (p.Ala952Gly)	MYBBP1A (A952G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561543	NM_014520.4(MYBBP1A):c.2176G>A (p.Gly726Ser)	MYBBP1A (G726S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559550	NM_014520.4(MYBBP1A):c.761C>T (p.Ala254Val)	MYBBP1A (A254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553367	NM_014520.4(MYBBP1A):c.592C>A (p.Pro198Thr)	MYBBP1A (P198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552740	NM_014520.4(MYBBP1A):c.208A>G (p.Met70Val)	MYBBP1A (M70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551068	NM_014520.4(MYBBP1A):c.3454A>G (p.Lys1152Glu)	MYBBP1A (K1152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550683	NM_014520.4(MYBBP1A):c.1513T>G (p.Leu505Val)	MYBBP1A (L505V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547953	NM_014520.4(MYBBP1A):c.1124T>C (p.Val375Ala)	MYBBP1A (V375A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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