eustachian tube OR tuba additive - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 340

<< First< Prev

Page of 4

The following term was not found in ClinVar: tuba.
Showing results for eustachian tube OR tuba auditiva. Search instead for eustachian tube OR tuba auditiva (0)

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3521	NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)	MTHFR (E470A)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign; other
Select item 12781	NM_003000.3(SDHB):c.725G>A (p.Arg242His)	SDHB (R242H)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +6 more	GPathogenic/Likely pathogenic
Select item 30709	NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	DHDDS (K42E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 985003	NM_001371928.1(AHDC1):c.4432C>T (p.Pro1478Ser)	AHDC1 (P1478S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 41763	NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)	MUTYH (G25D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 41759	NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)	MUTYH (P18L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 201128	NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)	PCSK9 (R469W +6 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +7 more	GConflicting classifications of pathogenicity
Select item 201129	NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)	PCSK9 (R496W +6 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 199044	NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)	GBA1, LOC106627981 (E365K +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +13 more	GConflicting classifications of pathogenicity; risk factor
Select item 874202	NM_000130.5(F5):c.*2351C>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 293541	NM_000130.5(F5):c.*2328G>C	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GBenign/Likely benign
Select item 876088	NM_000130.5(F5):c.*2148C>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 293542	NM_000130.5(F5):c.*2053G>C	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 877040	NM_000130.5(F5):c.*2037G>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +2 more	GConflicting classifications of pathogenicity
Select item 293543	NM_000130.5(F5):c.*1939T>C	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 874258	NM_000130.5(F5):c.*1912C>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 875182	NM_000130.5(F5):c.*1857G>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293544	NM_000130.5(F5):c.*1820A>C	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +4 more	GBenign/Likely benign
Select item 293545	NM_000130.5(F5):c.*1780G>T	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 876149	NM_000130.5(F5):c.*1776A>G	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 876290	NM_000130.5(F5):c.*1715T>G	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 874310	NM_000130.5(F5):c.*1699G>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 874311	NM_000130.5(F5):c.*1613A>G	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 293546	NM_000130.5(F5):c.*1601C>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +4 more	GBenign/Likely benign
Select item 875238	NM_000130.5(F5):c.*1531C>T	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293547	NM_000130.5(F5):c.*1488T>C	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GConflicting classifications of pathogenicity
Select item 293548	NM_000130.5(F5):c.*1436T>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +4 more	GBenign/Likely benign
Select item 876339	NM_000130.5(F5):c.*1433G>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 293549	NM_000130.5(F5):c.*1432C>T	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 874372	NM_000130.5(F5):c.*1404G>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 874373	NM_000130.5(F5):c.*1301A>T	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293550	NM_000130.5(F5):c.*1290G>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GConflicting classifications of pathogenicity
Select item 875292	NM_000130.5(F5):c.*1257A>C	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293551	NM_000130.5(F5):c.*1246C>T	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GBenign/Likely benign
Select item 876255	NM_000130.5(F5):c.*1237G>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 293552	NM_000130.5(F5):c.*1170G>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 874422	NM_000130.5(F5):c.*1132A>G	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293553	NM_000130.5(F5):c.*1118G>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GBenign/Likely benign
Select item 293554	NM_000130.5(F5):c.*1115C>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GBenign/Likely benign
Select item 875385	NM_000130.5(F5):c.*1043T>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293555	NM_000130.5(F5):c.*891A>G	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 293556	NM_000130.5(F5):c.*873C>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +4 more	GBenign/Likely benign
Select item 874467	NM_000130.5(F5):c.*872C>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 293557	NM_000130.5(F5):c.*838T>C	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GConflicting classifications of pathogenicity
Select item 293558	NM_000130.5(F5):c.*762G>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293559	NM_000130.5(F5):c.*598T>G	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293560	NM_000130.5(F5):c.*581C>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GConflicting classifications of pathogenicity
Select item 293561	NM_000130.5(F5):c.*476C>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GConflicting classifications of pathogenicity
Select item 293562	NM_000130.5(F5):c.*441C>T	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293563	NM_000130.5(F5):c.*400C>G	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 293564	NM_000130.5(F5):c.*396C>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 293565	NM_000130.5(F5):c.*390C>T	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 874569	NM_000130.5(F5):c.*376A>T	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +2 more	GBenign/Likely benign
Select item 875496	NM_000130.5(F5):c.*366A>G	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293566	NM_000130.5(F5):c.*363T>G	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 876512	NM_000130.5(F5):c.*288T>C	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 293567	NM_000130.5(F5):c.*216T>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293568	NM_000130.5(F5):c.*157A>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to activated protein C resistance +3 more	GUncertain significance
Select item 293569	NM_000130.5(F5):c.*149C>G	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293570	NM_000130.5(F5):c.*104A>C	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 874621	NM_000130.5(F5):c.*75G>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 255215	NM_000130.5(F5):c.6665A>G (p.Asp2222Gly)	F5 (D2222G)	Single nucleotide variant (missense variant)	Congenital factor V deficiency +3 more	GBenign/Likely benign
Select item 1676748	NM_000130.5(F5):c.6644G>A (p.Arg2215His)	F5 (R2215H)	Single nucleotide variant (missense variant)	Factor V deficiency	GUncertain significance
Select item 293571	NM_000130.5(F5):c.6629A>T (p.Gln2210Leu)	F5 (Q2210L)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 293572	NM_000130.5(F5):c.6589A>G (p.Ile2197Val)	F5 (I2197V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 716051	NM_000130.5(F5):c.6554A>G (p.Lys2185Arg)	F5 (K2185R)	Single nucleotide variant (missense variant)	Factor V deficiency +7 more	GBenign/Likely benign
Select item 293573	NM_000130.5(F5):c.6459T>C (p.Tyr2153=)	F5	Single nucleotide variant (synonymous variant)	Factor V deficiency +3 more	GUncertain significance
Select item 255214	NM_000130.5(F5):c.6443T>C (p.Met2148Thr)	F5 (M2148T)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 293574	NM_000130.5(F5):c.6360G>A (p.Lys2120=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to activated protein C resistance +4 more	GConflicting classifications of pathogenicity
Select item 293575	NM_000130.5(F5):c.6309G>A (p.Leu2103=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +6 more	GConflicting classifications of pathogenicity
Select item 654	NM_000130.5(F5):c.6304C>T (p.Arg2102Cys)	F5 (R2102C)	Single nucleotide variant (missense variant)	Factor V deficiency	GLikely pathogenic
Select item 875604	NM_000130.5(F5):c.6298C>T (p.Arg2100Cys)	F5 (R2100C)	Single nucleotide variant (missense variant)	Factor V deficiency +2 more	GUncertain significance
Select item 875605	NM_000130.5(F5):c.6241C>G (p.Gln2081Glu)	F5 (Q2081E)	Single nucleotide variant (missense variant)	Factor V deficiency +3 more	GUncertain significance
Select item 773414	NM_000130.5(F5):c.6193+7T>A	F5	Single nucleotide variant (intron variant)	Thrombophilia due to thrombin defect +4 more	GConflicting classifications of pathogenicity
Select item 627349	NM_000130.5(F5):c.6179G>A (p.Gly2060Asp)	F5 (G2060D)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance +2 more	GConflicting classifications of pathogenicity
Select item 293576	NM_000130.5(F5):c.6164G>A (p.Arg2055Gln)	F5 (R2055Q)	Single nucleotide variant (missense variant)	Factor V deficiency +3 more	GUncertain significance
Select item 1684394	NM_000130.5(F5):c.6122T>G (p.Ile2041Ser)	F5 (I2041S)	Single nucleotide variant (missense variant)	Factor V deficiency	GUncertain significance
Select item 2572101	NM_000130.5(F5):c.6025G>T (p.Gly2009Trp)	F5 (G2009W)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance	GUncertain significance
Select item 1098453	NM_000130.5(F5):c.6010T>C (p.Trp2004Arg)	F5 (W2004R)	Single nucleotide variant (missense variant)	Factor V deficiency	GUncertain significance
Select item 873758	NM_000130.5(F5):c.5933C>T (p.Thr1978Ile)	F5 (T1978I)	Single nucleotide variant (missense variant)	Factor V deficiency +4 more	GUncertain significance
Select item 873759	NM_000130.5(F5):c.5923G>C (p.Gly1975Arg)	F5 (G1975R)	Single nucleotide variant (missense variant)	Factor V deficiency +4 more	GConflicting classifications of pathogenicity
Select item 874713	NM_000130.5(F5):c.5789-7A>C	F5	Single nucleotide variant (intron variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293577	NM_000130.5(F5):c.5788+4A>T	F5	Single nucleotide variant (intron variant)	Factor V deficiency +4 more	GConflicting classifications of pathogenicity
Select item 875652	NM_000130.5(F5):c.5780A>G (p.Glu1927Gly)	F5 (E1927G)	Single nucleotide variant (missense variant)	Factor V deficiency +3 more	GUncertain significance
Select item 876651	NM_000130.5(F5):c.5729C>T (p.Pro1910Leu)	F5 (P1910L)	Single nucleotide variant (missense variant)	Factor V deficiency +2 more	GUncertain significance
Select item 293578	NM_000130.5(F5):c.5721T>C (p.Cys1907=)	F5	Single nucleotide variant (synonymous variant)	Factor V deficiency +3 more	GUncertain significance
Select item 632086	NM_000130.5(F5):c.5646G>A (p.Trp1882Ter)	F5 (W1882*)	Single nucleotide variant (nonsense)	Thrombophilia due to thrombin defect +2 more	GConflicting classifications of pathogenicity
Select item 1098454	NM_000130.5(F5):c.5594T>G (p.Leu1865Arg)	F5 (L1865R)	Single nucleotide variant (missense variant)	Factor V deficiency	GUncertain significance
Select item 293579	NM_000130.5(F5):c.5589C>A (p.Pro1863=)	F5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 293580	NM_000130.5(F5):c.5558G>T (p.Gly1853Val)	F5 (G1853V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 293581	NM_000130.5(F5):c.5534A>G (p.His1845Arg)	F5 (H1845R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 293582	NM_000130.5(F5):c.5490G>A (p.Leu1830=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to activated protein C resistance +6 more	GConflicting classifications of pathogenicity
Select item 293583	NM_000130.5(F5):c.5460G>A (p.Met1820Ile)	F5 (M1820I)	Single nucleotide variant (missense variant)	Factor V deficiency +4 more	GBenign/Likely benign
Select item 876694	NM_000130.5(F5):c.5446C>T (p.Pro1816Ser)	F5 (P1816S)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +5 more	GConflicting classifications of pathogenicity
Select item 873864	NM_000130.5(F5):c.5431A>T (p.Met1811Leu)	F5 (M1811L)	Single nucleotide variant (missense variant)	F5-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 255211	NM_000130.5(F5):c.5419+12A>G	F5	Single nucleotide variant (intron variant)	Thrombophilia due to activated protein C resistance +5 more	GBenign/Likely benign
Select item 293585	NM_000130.5(F5):c.5419+11C>G	F5	Single nucleotide variant (intron variant)	Thrombophilia due to activated protein C resistance +4 more	GConflicting classifications of pathogenicity
Select item 293584	NM_000130.5(F5):c.5419+11C>T	F5	Single nucleotide variant (intron variant)	Factor V deficiency +5 more	GBenign/Likely benign
Select item 627181	NM_000130.5(F5):c.5408A>G (p.His1803Arg)	F5 (H1803R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 653	NM_000130.5(F5):c.5403_5404insG (p.Ser1802fs)	F5 (S1802fs)	Insertion (frameshift variant)	Factor V deficiency	GPathogenic

<< First< Prev

Page of 4