ClinVar for Gene (Select 23077) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373123	NM_015057.5(MYCBP2):c.11498C>G (p.Ser3833Cys)	MYCBP2, MYCBP2-AS1 (S3833C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372165	NM_015057.5(MYCBP2):c.4364A>G (p.Asp1455Gly)	MYCBP2 (D1455G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371641	NM_015057.5(MYCBP2):c.10496C>G (p.Pro3499Arg)	MYCBP2 (P3499R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371392	NM_015057.5(MYCBP2):c.5689A>G (p.Ser1897Gly)	MYCBP2 (S1897G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371172	NM_015057.5(MYCBP2):c.1885C>G (p.Pro629Ala)	MYCBP2 (P629A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371109	NM_015057.5(MYCBP2):c.5677T>G (p.Ser1893Ala)	MYCBP2 (S1893A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370819	NM_015057.5(MYCBP2):c.532A>G (p.Ser178Gly)	MYCBP2 (S178G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370055	NM_015057.5(MYCBP2):c.1335A>C (p.Gln445His)	MYCBP2 (Q445H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369644	NM_015057.5(MYCBP2):c.12329T>C (p.Leu4110Pro)	MYCBP2 (L4110P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369615	NM_015057.5(MYCBP2):c.8491A>G (p.Arg2831Gly)	MYCBP2 (R2831G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369359	NM_015057.5(MYCBP2):c.11371A>G (p.Asn3791Asp)	MYCBP2, MYCBP2-AS1 (N3791D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369326	NM_015057.5(MYCBP2):c.11449G>T (p.Gly3817Cys)	MYCBP2, MYCBP2-AS1 (G3817C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369276	NM_015057.5(MYCBP2):c.10336C>T (p.Pro3446Ser)	MYCBP2 (P3446S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369233	NM_015057.5(MYCBP2):c.2174A>G (p.Lys725Arg)	MYCBP2 (K725R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369043	NM_015057.5(MYCBP2):c.4559T>C (p.Leu1520Ser)	MYCBP2 (L1520S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368610	NM_015057.5(MYCBP2):c.4202G>A (p.Ser1401Asn)	MYCBP2 (S1401N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368075	NM_015057.5(MYCBP2):c.12463C>T (p.Arg4155Ter)	MYCBP2 (R4155*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3367463	NM_015057.5(MYCBP2):c.11896C>G (p.Gln3966Glu)	MYCBP2 (Q3966E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367413	NM_015057.5(MYCBP2):c.3949ATG[1] (p.Met1318del)	MYCBP2 (M1318del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3367409	NM_015057.5(MYCBP2):c.693C>G (p.Asn231Lys)	MYCBP2 (N231K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367402	NM_015057.5(MYCBP2):c.973A>G (p.Arg325Gly)	MYCBP2 (R325G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367383	NM_015057.5(MYCBP2):c.13597G>T (p.Gly4533Cys)	MYCBP2 (G4533C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366095	NM_015057.5(MYCBP2):c.5416G>A (p.Asp1806Asn)	MYCBP2 (D1806N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365863	NM_015057.5(MYCBP2):c.12520A>G (p.Ile4174Val)	MYCBP2 (I4174V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365787	NM_015057.5(MYCBP2):c.1745T>C (p.Ile582Thr)	MYCBP2 (I582T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365684	NM_015057.5(MYCBP2):c.2734A>G (p.Lys912Glu)	MYCBP2 (K912E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365395	NM_015057.5(MYCBP2):c.5207G>A (p.Ser1736Asn)	MYCBP2 (S1736N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365188	NM_015057.5(MYCBP2):c.4796C>T (p.Ser1599Phe)	MYCBP2 (S1599F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365157	NM_015057.5(MYCBP2):c.4594T>G (p.Leu1532Val)	MYCBP2 (L1532V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364879	NM_015057.5(MYCBP2):c.656C>T (p.Pro219Leu)	MYCBP2 (P219L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364438	NM_015057.5(MYCBP2):c.594+1G>C	MYCBP2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3364082	NM_015057.5(MYCBP2):c.433C>A (p.Pro145Thr)	MYCBP2 (P145T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364058	NM_015057.5(MYCBP2):c.9167A>G (p.Lys3056Arg)	MYCBP2 (K3056R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363679	NM_015057.5(MYCBP2):c.8333A>C (p.Lys2778Thr)	MYCBP2 (K2778T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363583	NM_015057.5(MYCBP2):c.10012A>C (p.Met3338Leu)	MYCBP2 (M3338L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363476	NM_015057.5(MYCBP2):c.9952A>G (p.Lys3318Glu)	MYCBP2 (K3318E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363221	NM_015057.5(MYCBP2):c.254T>A (p.Leu85His)	LOC130009920, MYCBP2 (L85H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361984	NM_015057.5(MYCBP2):c.5332G>C (p.Val1778Leu)	MYCBP2 (V1778L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361780	NM_015057.5(MYCBP2):c.11368A>G (p.Ile3790Val)	MYCBP2 (I3790V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361612	NM_015057.5(MYCBP2):c.9533C>A (p.Ala3178Asp)	MYCBP2 (A3178D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361300	NM_015057.5(MYCBP2):c.11408G>A (p.Arg3803Gln)	MYCBP2 (R3803Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361006	NM_015057.5(MYCBP2):c.7918G>C (p.Asp2640His)	MYCBP2 (D2640H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360988	NM_015057.5(MYCBP2):c.11861G>A (p.Gly3954Glu)	MYCBP2 (G3954E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360966	NM_015057.5(MYCBP2):c.9250A>G (p.Lys3084Glu)	MYCBP2 (K3084E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360881	NM_015057.5(MYCBP2):c.6037G>A (p.Ala2013Thr)	MYCBP2 (A2013T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360785	NM_015057.5(MYCBP2):c.7205T>C (p.Leu2402Pro)	MYCBP2 (L2402P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360709	NM_015057.5(MYCBP2):c.9334A>C (p.Met3112Leu)	MYCBP2 (M3112L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360653	NM_015057.5(MYCBP2):c.2887A>G (p.Thr963Ala)	MYCBP2 (T963A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360378	NM_015057.5(MYCBP2):c.6502G>A (p.Val2168Ile)	MYCBP2 (V2168I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360303	NM_015057.5(MYCBP2):c.1583A>G (p.Asp528Gly)	MYCBP2 (D528G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359529	NM_015057.5(MYCBP2):c.12134C>T (p.Ser4045Leu)	MYCBP2 (S4045L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359515	NM_015057.5(MYCBP2):c.8375A>G (p.His2792Arg)	MYCBP2 (H2792R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359478	NM_015057.5(MYCBP2):c.8216G>T (p.Ser2739Ile)	MYCBP2 (S2739I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355265	NM_015057.5(MYCBP2):c.6515C>T (p.Ala2172Val)	MYCBP2 (A2172V)	Single nucleotide variant (missense variant)	MYCBP2-related disorder	GUncertain significance
Select item 3350689	NM_015057.5(MYCBP2):c.10836G>A (p.Glu3612=)	MYCBP2, MYCBP2-AS1	Single nucleotide variant (synonymous variant)	MYCBP2-related disorder	GLikely benign
Select item 3349733	NM_015057.5(MYCBP2):c.12856G>A (p.Asp4286Asn)	MYCBP2 (D4286N)	Single nucleotide variant (missense variant)	MYCBP2-related disorder	GUncertain significance
Select item 3348820	NM_015057.5(MYCBP2):c.5958G>C (p.Gln1986His)	MYCBP2 (Q1986H)	Single nucleotide variant (missense variant)	MYCBP2-related disorder	GUncertain significance
Select item 3347809	NM_015057.5(MYCBP2):c.11118G>T (p.Leu3706Phe)	MYCBP2, MYCBP2-AS1 (L3706F)	Single nucleotide variant (missense variant)	MYCBP2-related disorder	GUncertain significance
Select item 3345915	NM_015057.5(MYCBP2):c.12065C>T (p.Ala4022Val)	MYCBP2 (A4022V)	Single nucleotide variant (missense variant)	MYCBP2-related disorder	GUncertain significance
Select item 3345221	NM_015057.5(MYCBP2):c.2553T>G (p.Ile851Met)	MYCBP2 (I851M)	Single nucleotide variant (missense variant)	MYCBP2-related disorder	GUncertain significance
Select item 3343417	NM_015057.5(MYCBP2):c.4942-2A>C	MYCBP2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3343120	NM_015057.5(MYCBP2):c.2501A>C (p.Glu834Ala)	MYCBP2 (E834A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343001	NM_015057.5(MYCBP2):c.2803C>T (p.Arg935Ter)	MYCBP2 (R935*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3342347	NM_015057.5(MYCBP2):c.7188-2A>G	MYCBP2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3340699	NM_015057.5(MYCBP2):c.13669C>T (p.Arg4557Cys)	MYCBP2 (R4557C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3340679	NM_015057.5(MYCBP2):c.11855T>C (p.Met3952Thr)	MYCBP2 (M3952T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3297282	NM_015057.5(MYCBP2):c.13175C>A (p.Pro4392His)	MYCBP2 (P4392H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297281	NM_015057.5(MYCBP2):c.11233A>G (p.Ile3745Val)	MYCBP2, MYCBP2-AS1 (I3745V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297280	NM_015057.5(MYCBP2):c.2508A>G (p.Ile836Met)	MYCBP2 (I836M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297279	NM_015057.5(MYCBP2):c.9358G>A (p.Val3120Ile)	MYCBP2 (V3120I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297278	NM_015057.5(MYCBP2):c.12436C>T (p.Pro4146Ser)	MYCBP2 (P4146S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297277	NM_015057.5(MYCBP2):c.6800C>T (p.Pro2267Leu)	MYCBP2 (P2267L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297276	NM_015057.5(MYCBP2):c.2695T>C (p.Ser899Pro)	MYCBP2 (S899P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297275	NM_015057.5(MYCBP2):c.2689C>A (p.Leu897Ile)	MYCBP2 (L897I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297274	NM_015057.5(MYCBP2):c.2644G>C (p.Ala882Pro)	MYCBP2 (A882P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297272	NM_015057.5(MYCBP2):c.6686C>T (p.Pro2229Leu)	MYCBP2 (P2229L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297271	NM_015057.5(MYCBP2):c.10201C>T (p.His3401Tyr)	MYCBP2 (H3401Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297270	NM_015057.5(MYCBP2):c.1366A>C (p.Thr456Pro)	MYCBP2 (T456P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297269	NM_015057.5(MYCBP2):c.9193C>T (p.His3065Tyr)	MYCBP2 (H3065Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297268	NM_015057.5(MYCBP2):c.13234G>A (p.Gly4412Ser)	MYCBP2 (G4412S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297267	NM_015057.5(MYCBP2):c.1516T>A (p.Leu506Ile)	MYCBP2 (L506I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297266	NM_015057.5(MYCBP2):c.2047del (p.Phe682_Val683insTer)	MYCBP2	Deletion (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 3297265	NM_015057.5(MYCBP2):c.9329C>G (p.Ser3110Cys)	MYCBP2 (S3110C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297264	NM_015057.5(MYCBP2):c.10964G>A (p.Arg3655His)	MYCBP2, MYCBP2-AS1 (R3655H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3297263	NM_015057.5(MYCBP2):c.13711A>G (p.Arg4571Gly)	MYCBP2 (R4571G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297261	NM_015057.5(MYCBP2):c.9635_9641dup (p.Ala3215fs)	MYCBP2 (A3215fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 3297260	NM_015057.5(MYCBP2):c.6056A>G (p.His2019Arg)	MYCBP2 (H2019R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297259	NM_015057.5(MYCBP2):c.5157C>G (p.His1719Gln)	MYCBP2 (H1719Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297258	NM_015057.5(MYCBP2):c.9341G>A (p.Ser3114Asn)	MYCBP2 (S3114N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297257	NM_015057.5(MYCBP2):c.4975C>T (p.Arg1659Cys)	MYCBP2 (R1659C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297256	NM_015057.5(MYCBP2):c.5887A>G (p.Ile1963Val)	MYCBP2 (I1963V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297255	NM_015057.5(MYCBP2):c.11503C>T (p.His3835Tyr)	MYCBP2, MYCBP2-AS1 (H3835Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297254	NM_015057.5(MYCBP2):c.4705A>C (p.Asn1569His)	MYCBP2 (N1569H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297253	NM_015057.5(MYCBP2):c.5858T>C (p.Ile1953Thr)	MYCBP2 (I1953T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297252	NM_015057.5(MYCBP2):c.2744G>A (p.Ser915Asn)	MYCBP2 (S915N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297250	NM_015057.5(MYCBP2):c.4930A>G (p.Lys1644Glu)	MYCBP2 (K1644E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253097	NM_015057.5(MYCBP2):c.9896T>G (p.Val3299Gly)	MYCBP2 (V3299G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3155015	NM_015057.5(MYCBP2):c.9871A>G (p.Ile3291Val)	MYCBP2 (I3291V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155005	NM_015057.5(MYCBP2):c.9577C>T (p.Leu3193Phe)	MYCBP2 (L3193F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154985	NM_015057.5(MYCBP2):c.9443A>G (p.Asn3148Ser)	MYCBP2 (N3148S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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