ClinVar for Gene (Select 94025) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 568

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358889	NM_001401501.2(MUC16):c.44440C>T (p.Arg14814Trp)	MUC16 (R13972W +3 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	GUncertain significance
Select item 3356716	NM_001401501.2(MUC16):c.38361C>T (p.Asn12787=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3355794	NM_001401501.2(MUC16):c.32228A>G (p.His10743Arg)	MUC16 (H10703R +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GUncertain significance
Select item 3355478	NM_001401501.2(MUC16):c.4818C>T (p.His1606=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3351812	NM_001401501.2(MUC16):c.36385+5G>A	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3350518	NM_001401501.2(MUC16):c.41112-5_41112-4insCTTT	MUC16	Insertion (intron variant)	MUC16-related disorder	GLikely benign
Select item 3350361	NM_001401501.2(MUC16):c.41112-10_41112-7del	MUC16	Deletion (intron variant)	MUC16-related disorder	GLikely benign
Select item 3344563	NM_001401501.2(MUC16):c.42913A>G (p.Arg14305Gly)	MUC16 (R13463G +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GUncertain significance
Select item 3061625	NM_001401501.2(MUC16):c.12549G>A (p.Glu4183=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3060977	NM_001401501.2(MUC16):c.1753A>G (p.Thr585Ala)	MUC16 (T545A +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060940	NM_001401501.2(MUC16):c.11982A>T (p.Thr3994=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3060939	NM_001401501.2(MUC16):c.32412G>C (p.Thr10804=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3060934	NM_001401501.2(MUC16):c.37527T>C (p.Ser12509=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3060933	NM_001401501.2(MUC16):c.11931C>T (p.Ser3977=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3060886	NM_001401501.2(MUC16):c.39272G>A (p.Arg13091His)	MUC16 (R13029H +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060874	NM_001401501.2(MUC16):c.12349A>T (p.Thr4117Ser)	MUC16 (T4077S +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060849	NM_001401501.2(MUC16):c.40643+9T>C	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GBenign
Select item 3060843	NM_001401501.2(MUC16):c.4177C>T (p.His1393Tyr)	MUC16 (H1353Y +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060812	NM_001401501.2(MUC16):c.10476C>T (p.Ile3492=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3060748	NM_001401501.2(MUC16):c.41237-16TCTCCC[3]	MUC16	Microsatellite (intron variant)	MUC16-related disorder	GBenign
Select item 3060709	NM_001401501.2(MUC16):c.38817C>T (p.Ser12939=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3060695	NM_001401501.2(MUC16):c.38790C>T (p.Tyr12930=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3060690	NM_001401501.2(MUC16):c.43077T>C (p.Pro14359=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3060658	NM_001401501.2(MUC16):c.10616G>T (p.Arg3539Met)	MUC16 (R3499M +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060650	NM_001401501.2(MUC16):c.9421G>T (p.Ala3141Ser)	MUC16 (A3101S +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060646	NM_001401501.2(MUC16):c.37177G>A (p.Glu12393Lys)	MUC16 (E12331K +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060605	NM_001401501.2(MUC16):c.1151G>A (p.Arg384Lys)	MUC16 (R344K +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060594	NM_001401501.2(MUC16):c.11829A>G (p.Val3943=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3060592	NM_001401501.2(MUC16):c.43098T>C (p.Val14366=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3060591	NM_001401501.2(MUC16):c.7752C>T (p.Pro2584=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3060571	NM_001401501.2(MUC16):c.32355G>C (p.Gly10785=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3060570	NM_001401501.2(MUC16):c.42551G>A (p.Arg14184His)	MUC16 (R13342H +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060538	NM_001401501.2(MUC16):c.42755G>A (p.Arg14252Gln)	MUC16 (R13410Q +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060519	NM_001401501.2(MUC16):c.42213T>C (p.Asp14071=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3060518	NM_001401501.2(MUC16):c.40837-10C>T	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3060486	NM_001401501.2(MUC16):c.8478G>A (p.Met2826Ile)	MUC16 (M2786I +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060481	NM_001401501.2(MUC16):c.10708G>A (p.Val3570Ile)	MUC16 (V3530I +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060467	NM_001401501.2(MUC16):c.36915C>T (p.Tyr12305=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3060420	NM_001401501.2(MUC16):c.37727G>C (p.Ser12576Thr)	MUC16 (S12514T +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060364	NM_001401501.2(MUC16):c.5617C>T (p.Leu1873Phe)	MUC16 (L1833F +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060313	NM_001401501.2(MUC16):c.42939C>T (p.Pro14313=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3060292	NM_001401501.2(MUC16):c.9985C>A (p.Pro3329Thr)	MUC16 (P3289T +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060287	NM_001401501.2(MUC16):c.36605C>T (p.Thr12202Met)	MUC16 (T12140M +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060265	NM_001401501.2(MUC16):c.34875C>A (p.Ser11625Arg)	MUC16 (S11585R +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060263	NM_001401501.2(MUC16):c.8811C>T (p.Val2937=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3060251	NM_001401501.2(MUC16):c.3605C>T (p.Thr1202Ile)	MUC16 (T1162I +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060239	NM_001401501.2(MUC16):c.42838A>G (p.Asn14280Asp)	MUC16 (N13438D +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GLikely benign
Select item 3060226	NM_001401501.2(MUC16):c.42766A>G (p.Lys14256Glu)	MUC16 (K13414E +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060214	NM_001401501.2(MUC16):c.42526C>A (p.Leu14176Met)	MUC16 (L13334M +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060186	NM_001401501.2(MUC16):c.10838G>A (p.Arg3613His)	MUC16 (R3573H +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060141	NM_001401501.2(MUC16):c.9763A>G (p.Ser3255Gly)	MUC16 (S3215G +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060139	NM_001401501.2(MUC16):c.37036T>C (p.Leu12346=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3060125	NM_001401501.2(MUC16):c.5751C>T (p.Asn1917=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3060042	NM_001401501.2(MUC16):c.42823C>G (p.His14275Asp)	MUC16 (H13433D +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060030	NM_001401501.2(MUC16):c.11288C>T (p.Thr3763Met)	MUC16 (T3723M +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060021	NM_001401501.2(MUC16):c.36857-3T>C	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GBenign
Select item 3060012	NM_001401501.2(MUC16):c.39231C>A (p.Leu13077=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3059987	NM_001401501.2(MUC16):c.12274A>T (p.Thr4092Ser)	MUC16 (T4052S +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GLikely benign
Select item 3059985	NM_001401501.2(MUC16):c.42548G>A (p.Arg14183His)	MUC16 (R13341H +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059951	NM_001401501.2(MUC16):c.31841G>A (p.Arg10614His)	MUC16 (R10574H +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059921	NM_001401501.2(MUC16):c.30625T>C (p.Phe10209Leu)	MUC16 (F10169L +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059910	NM_001401501.2(MUC16):c.39260G>A (p.Gly13087Glu)	MUC16 (G13025E +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059888	NM_001401501.2(MUC16):c.12220A>T (p.Ile4074Phe)	MUC16 (I4034F +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059843	NM_001401501.2(MUC16):c.37733-8T>C	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3059823	NM_001401501.2(MUC16):c.43113T>C (p.Ser14371=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3059801	NM_001401501.2(MUC16):c.40541+8A>G	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3059793	NM_001401501.2(MUC16):c.44530C>T (p.Leu14844Phe)	MUC16 (L14002F +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059777	NM_001401501.2(MUC16):c.39285C>T (p.Ser13095=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3059770	NM_001401501.2(MUC16):c.39282C>A (p.Gly13094=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3059750	NM_001401501.2(MUC16):c.5812T>G (p.Tyr1938Asp)	MUC16 (Y1898D +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059742	NM_001401501.2(MUC16):c.43089C>T (p.Asn14363=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3059671	NM_001401501.2(MUC16):c.42745G>A (p.Asp14249Asn)	MUC16 (D13407N +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059664	NM_001401501.2(MUC16):c.10302A>C (p.Val3434=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3059645	NM_001401501.2(MUC16):c.42941T>C (p.Met14314Thr)	MUC16 (M13472T +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059620	NM_001401501.2(MUC16):c.42521C>T (p.Thr14174Ile)	MUC16 (T13332I +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059543	NM_001401501.2(MUC16):c.42258C>T (p.Asp14086=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3059464	NM_001401501.2(MUC16):c.37404T>A (p.Gly12468=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3059457	NM_001401501.2(MUC16):c.38814C>A (p.Gly12938=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3059397	NM_001401501.2(MUC16):c.30584C>T (p.Thr10195Ile)	MUC16 (T10155I +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059396	NM_024690.2(MUC16):c.39499G>A (p.Val13167Met)	MUC16 (V13167M)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059330	NM_001401501.2(MUC16):c.6292T>C (p.Ser2098Pro)	MUC16 (S2058P +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059307	NM_001401501.2(MUC16):c.10575G>A (p.Ala3525=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3059257	NM_001401501.2(MUC16):c.11597G>A (p.Gly3866Glu)	MUC16 (G3826E +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059227	NM_001401501.2(MUC16):c.30577G>C (p.Glu10193Gln)	MUC16 (E10153Q +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059223	NM_001401501.2(MUC16):c.11483C>T (p.Thr3828Ile)	MUC16 (T3788I +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059220	NM_001401501.2(MUC16):c.42729C>T (p.Pro14243=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3059181	NM_001401501.2(MUC16):c.11403G>A (p.Gln3801=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3059154	NM_001401501.2(MUC16):c.10637A>C (p.Lys3546Thr)	MUC16 (K3506T +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059145	NM_001401501.2(MUC16):c.6931A>G (p.Thr2311Ala)	MUC16 (T2271A +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059136	NM_001401501.2(MUC16):c.32025C>T (p.Asp10675=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3059135	NM_001401501.2(MUC16):c.39275A>G (p.His13092Arg)	MUC16 (H13030R +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059093	NM_001401501.2(MUC16):c.3918A>C (p.Lys1306Asn)	MUC16 (K1266N +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059092	NM_001401501.2(MUC16):c.3163A>G (p.Arg1055Gly)	MUC16 (R1015G +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059074	NM_001401501.2(MUC16):c.37054G>A (p.Glu12352Lys)	MUC16 (E12290K +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059043	NM_001401501.2(MUC16):c.9689G>C (p.Ser3230Thr)	MUC16 (S3190T +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059026	NM_001401501.2(MUC16):c.10506G>A (p.Val3502=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3059000	NM_001401501.2(MUC16):c.10130C>T (p.Ser3377Leu)	MUC16 (S3337L +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3058992	NM_001401501.2(MUC16):c.37049+7A>C	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3058965	NM_001401501.2(MUC16):c.7636A>G (p.Thr2546Ala)	LOC129391057, MUC16 (T2506A +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3058935	NM_001401501.2(MUC16):c.30636A>C (p.Thr10212=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign

<< First< Prev

Page of 6