ClinVar for Gene (Select 1951) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355253	NM_001407.3(CELSR3):c.7464-9T>C	CELSR3	Single nucleotide variant (intron variant)	CELSR3-related disorder	GLikely benign
Select item 3354961	NM_001407.3(CELSR3):c.7395A>T (p.Leu2465=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3346003	NM_001407.3(CELSR3):c.9443C>A (p.Ala3148Glu)	CELSR3 (A3148E)	Single nucleotide variant (missense variant)	CELSR3-related disorder	GUncertain significance
Select item 3265821	NM_001407.3(CELSR3):c.3205G>C (p.Ala1069Pro)	CELSR3 (A1069P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265819	NM_001407.3(CELSR3):c.8569G>C (p.Val2857Leu)	CELSR3 (V2857L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265818	NM_001407.3(CELSR3):c.872C>G (p.Pro291Arg)	CELSR3 (P291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265817	NM_001407.3(CELSR3):c.9647C>A (p.Ala3216Asp)	CELSR3 (A3216D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265816	NM_001407.3(CELSR3):c.9245G>A (p.Arg3082His)	CELSR3 (R3082H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265815	NM_001407.3(CELSR3):c.8270C>T (p.Ala2757Val)	CELSR3 (A2757V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265814	NM_001407.3(CELSR3):c.2633T>C (p.Val878Ala)	CELSR3 (V878A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265813	NM_001407.3(CELSR3):c.4757T>C (p.Val1586Ala)	CELSR3 (V1586A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265812	NM_001407.3(CELSR3):c.6875C>T (p.Ala2292Val)	CELSR3 (A2292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265811	NM_001407.3(CELSR3):c.5810G>A (p.Arg1937Gln)	CELSR3 (R1937Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3265810	NM_001407.3(CELSR3):c.4346C>T (p.Ala1449Val)	CELSR3 (A1449V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265808	NM_001407.3(CELSR3):c.2110G>A (p.Ala704Thr)	CELSR3 (A704T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265807	NM_001407.3(CELSR3):c.2800C>T (p.Arg934Trp)	CELSR3 (R934W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265806	NM_001407.3(CELSR3):c.9041G>A (p.Arg3014Gln)	CELSR3 (R3014Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265805	NM_001407.3(CELSR3):c.6433G>T (p.Gly2145Cys)	CELSR3 (G2145C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265804	NM_001407.3(CELSR3):c.3224G>A (p.Arg1075Gln)	CELSR3 (R1075Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265803	NM_001407.3(CELSR3):c.6836C>T (p.Ala2279Val)	CELSR3 (A2279V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247055	NC_000003.11:g.(?_47894522)_(49060605_?)del	ARIH2, ARIH2OS +29 more	Deletion	not provided	GUncertain significance
Select item 3142128	NM_001407.3(CELSR3):c.9724C>G (p.Gln3242Glu)	CELSR3 (Q3242E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142127	NM_001407.3(CELSR3):c.9634C>A (p.Pro3212Thr)	CELSR3 (P3212T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142126	NM_001407.3(CELSR3):c.9488G>A (p.Arg3163Gln)	CELSR3 (R3163Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142125	NM_001407.3(CELSR3):c.9401T>A (p.Met3134Lys)	CELSR3 (M3134K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142124	NM_001407.3(CELSR3):c.9262G>A (p.Ala3088Thr)	CELSR3 (A3088T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142123	NM_001407.3(CELSR3):c.9145C>T (p.Arg3049Cys)	CELSR3 (R3049C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142122	NM_001407.3(CELSR3):c.909A>C (p.Glu303Asp)	CELSR3 (E303D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142121	NM_001407.3(CELSR3):c.8752C>T (p.Arg2918Trp)	CELSR3 (R2918W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142120	NM_001407.3(CELSR3):c.8542C>T (p.Arg2848Cys)	CELSR3 (R2848C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142119	NM_001407.3(CELSR3):c.853C>T (p.Arg285Cys)	CELSR3 (R285C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142118	NM_001407.3(CELSR3):c.7904G>A (p.Arg2635His)	CELSR3 (R2635H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142117	NM_001407.3(CELSR3):c.7885C>T (p.Arg2629Cys)	CELSR3 (R2629C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142116	NM_001407.3(CELSR3):c.7801G>A (p.Val2601Met)	CELSR3 (V2601M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142115	NM_001407.3(CELSR3):c.769G>A (p.Ala257Thr)	CELSR3 (A257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142114	NM_001407.3(CELSR3):c.7669A>T (p.Thr2557Ser)	CELSR3 (T2557S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142113	NM_001407.3(CELSR3):c.7493G>A (p.Arg2498Gln)	CELSR3 (R2498Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142112	NM_001407.3(CELSR3):c.7097C>T (p.Pro2366Leu)	CELSR3 (P2366L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142111	NM_001407.3(CELSR3):c.7012C>T (p.Arg2338Trp)	CELSR3 (R2338W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142110	NM_001407.3(CELSR3):c.7007C>T (p.Ser2336Phe)	CELSR3 (S2336F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142109	NM_001407.3(CELSR3):c.6958G>A (p.Val2320Met)	CELSR3 (V2320M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142108	NM_001407.3(CELSR3):c.6314G>A (p.Arg2105His)	CELSR3 (R2105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142107	NM_001407.3(CELSR3):c.6035G>A (p.Gly2012Asp)	CELSR3 (G2012D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142106	NM_001407.3(CELSR3):c.5885G>A (p.Arg1962Gln)	CELSR3 (R1962Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142105	NM_001407.3(CELSR3):c.5875G>A (p.Ala1959Thr)	CELSR3 (A1959T)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex +1 more	GConflicting classifications of pathogenicity
Select item 3142103	NM_001407.3(CELSR3):c.5819C>T (p.Ala1940Val)	CELSR3 (A1940V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142102	NM_001407.3(CELSR3):c.5755G>T (p.Val1919Leu)	CELSR3 (V1919L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142101	NM_001407.3(CELSR3):c.5707G>A (p.Gly1903Ser)	CELSR3 (G1903S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142100	NM_001407.3(CELSR3):c.5588G>T (p.Arg1863Leu)	CELSR3 (R1863L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142099	NM_001407.3(CELSR3):c.5540G>A (p.Arg1847Gln)	CELSR3 (R1847Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142097	NM_001407.3(CELSR3):c.5504A>G (p.His1835Arg)	CELSR3 (H1835R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142096	NM_001407.3(CELSR3):c.5456G>A (p.Arg1819Gln)	CELSR3 (R1819Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142095	NM_001407.3(CELSR3):c.4542G>C (p.Glu1514Asp)	CELSR3 (E1514D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142094	NM_001407.3(CELSR3):c.4466C>A (p.Thr1489Asn)	CELSR3 (T1489N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142093	NM_001407.3(CELSR3):c.4432C>A (p.Arg1478Ser)	CELSR3 (R1478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142092	NM_001407.3(CELSR3):c.4141C>G (p.Arg1381Gly)	CELSR3 (R1381G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142091	NM_001407.3(CELSR3):c.4015G>A (p.Gly1339Arg)	CELSR3 (G1339R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142090	NM_001407.3(CELSR3):c.3421G>C (p.Val1141Leu)	CELSR3 (V1141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142089	NM_001407.3(CELSR3):c.2920G>T (p.Ala974Ser)	CELSR3 (A974S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142088	NM_001407.3(CELSR3):c.2860G>A (p.Val954Met)	CELSR3 (V954M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142087	NM_001407.3(CELSR3):c.279A>C (p.Gln93His)	CELSR3 (Q93H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142085	NM_001407.3(CELSR3):c.2659G>A (p.Val887Met)	CELSR3 (V887M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142084	NM_001407.3(CELSR3):c.238G>T (p.Val80Phe)	CELSR3 (V80F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142083	NM_001407.3(CELSR3):c.2219C>A (p.Ala740Asp)	CELSR3 (A740D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142082	NM_001407.3(CELSR3):c.1964C>T (p.Pro655Leu)	CELSR3 (P655L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142081	NM_001407.3(CELSR3):c.1936G>A (p.Asp646Asn)	CELSR3 (D646N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142080	NM_001407.3(CELSR3):c.1895A>G (p.Asn632Ser)	CELSR3 (N632S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142079	NM_001407.3(CELSR3):c.1769G>A (p.Arg590His)	CELSR3 (R590H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142078	NM_001407.3(CELSR3):c.1684A>G (p.Thr562Ala)	CELSR3 (T562A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142077	NM_001407.3(CELSR3):c.1450G>A (p.Ala484Thr)	CELSR3 (A484T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142076	NM_001407.3(CELSR3):c.1411C>T (p.Arg471Cys)	CELSR3 (R471C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142075	NM_001407.3(CELSR3):c.1367G>A (p.Arg456His)	CELSR3 (R456H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058807	NM_001407.3(CELSR3):c.8970G>A (p.Pro2990=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3058341	NM_001407.3(CELSR3):c.3912T>C (p.Ala1304=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3058310	NM_001407.3(CELSR3):c.3843C>T (p.Asn1281=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3057638	NM_001407.3(CELSR3):c.9449G>A (p.Arg3150Gln)	CELSR3 (R3150Q)	Single nucleotide variant (missense variant)	CELSR3-related disorder	GLikely benign
Select item 3057558	NM_001407.3(CELSR3):c.9912-8G>A	CELSR3	Single nucleotide variant (intron variant)	CELSR3-related disorder	GLikely benign
Select item 3056375	NM_001407.3(CELSR3):c.7728C>A (p.Ala2576=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3056301	NM_001407.3(CELSR3):c.9123T>A (p.Ala3041=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GBenign
Select item 3055595	NM_001407.3(CELSR3):c.4626-9C>A	CELSR3	Single nucleotide variant (intron variant)	CELSR3-related disorder	GBenign
Select item 3053810	NM_001407.3(CELSR3):c.9397G>A (p.Ala3133Thr)	CELSR3 (A3133T)	Single nucleotide variant (missense variant)	CELSR3-related disorder	GLikely benign
Select item 3052814	NM_001407.3(CELSR3):c.4275C>T (p.Pro1425=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3052455	NM_001407.3(CELSR3):c.3375G>A (p.Thr1125=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3051719	NM_001407.3(CELSR3):c.9478C>T (p.Arg3160Cys)	CELSR3 (R3160C)	Single nucleotide variant (missense variant)	CELSR3-related disorder	GLikely benign
Select item 3050820	NM_001407.3(CELSR3):c.6027C>T (p.Asp2009=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GBenign
Select item 3050563	NM_001407.3(CELSR3):c.6342C>T (p.Phe2114=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3049314	NM_001407.3(CELSR3):c.8969C>G (p.Pro2990Arg)	CELSR3 (P2990R)	Single nucleotide variant (missense variant)	CELSR3-related disorder	GBenign
Select item 3048844	NM_001407.3(CELSR3):c.*9C>T	CELSR3	Single nucleotide variant (3 prime UTR variant)	CELSR3-related disorder	GLikely benign
Select item 3045469	NM_001407.3(CELSR3):c.509C>T (p.Pro170Leu)	CELSR3 (P170L)	Single nucleotide variant (missense variant)	CELSR3-related disorder	GLikely benign
Select item 3045419	NM_001407.3(CELSR3):c.2478C>T (p.Tyr826=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3045355	NM_001407.3(CELSR3):c.8165+7T>C	CELSR3, MIR4793	Single nucleotide variant (non-coding transcript variant +1 more)	CELSR3-related disorder	GLikely benign
Select item 3044428	NM_001407.3(CELSR3):c.7836C>T (p.Phe2612=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3042664	NM_001407.3(CELSR3):c.9566G>A (p.Arg3189Gln)	CELSR3 (R3189Q)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GBenign
Select item 3042505	NM_001407.3(CELSR3):c.4269C>T (p.Cys1423=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3038911	NM_001407.3(CELSR3):c.6879A>C (p.Gly2293=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3037911	NM_001407.3(CELSR3):c.1650C>T (p.Tyr550=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3037148	NM_001407.3(CELSR3):c.934C>A (p.Arg312=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GBenign
Select item 3035439	NM_001407.3(CELSR3):c.7854G>A (p.Ala2618=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3033820	NM_001407.3(CELSR3):c.8375C>T (p.Ala2792Val)	CELSR3 (A2792V)	Single nucleotide variant (missense variant)	CELSR3-related disorder	GLikely benign
Select item 3032532	NM_001407.3(CELSR3):c.2257C>T (p.Arg753Trp)	CELSR3 (R753W)	Single nucleotide variant (missense variant)	CELSR3-related disorder	GLikely benign

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