n-Tridecane - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 97927

<< First< Prev

Page of 980

The following term was not found in ClinVar: Tridecane.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2242101	NM_001385641.1(SAMD11):c.917G>A (p.Ser306Asn)	SAMD11 (S127N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333315	NM_001385641.1(SAMD11):c.1645G>A (p.Asp549Asn)	SAMD11 (D549N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2416556	NM_001385641.1(SAMD11):c.1906G>A (p.Asp636Asn)	SAMD11 (D473N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1469483	NM_001385641.1(SAMD11):c.2339C>T (p.Ala780Val)	SAMD11 (A780V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2554170	NM_015658.4(NOC2L):c.967C>A (p.His323Asn)	NOC2L (H323N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265139	NM_015658.4(NOC2L):c.688G>A (p.Asp230Asn)	NOC2L (D230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616453	NM_015658.4(NOC2L):c.559G>A (p.Asp187Asn)	NOC2L (D187N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200953	NM_015658.4(NOC2L):c.432G>T (p.Lys144Asn)	NOC2L (K144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239736	NM_015658.4(NOC2L):c.49G>A (p.Asp17Asn)	NOC2L (D17N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288911	NM_198317.3(KLHL17):c.223T>A (p.Tyr75Asn)	KLHL17 (Y75N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246810	NM_198317.3(KLHL17):c.792A>T (p.Lys264Asn)	KLHL17 (K264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535952	NM_198317.3(KLHL17):c.1052G>A (p.Ser351Asn)	KLHL17 (S351N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115498	NM_198317.3(KLHL17):c.1352A>C (p.Asn451Thr)	KLHL17 (N451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296705	NM_198317.3(KLHL17):c.1369G>A (p.Asp457Asn)	KLHL17 (D457N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592261	NM_198317.3(KLHL17):c.1690A>G (p.Asn564Asp)	KLHL17 (N564D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115508	NM_198317.3(KLHL17):c.1763G>A (p.Ser588Asn)	KLHL17 (S588N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363586	NM_032129.3(PLEKHN1):c.331G>A (p.Asp111Asn)	PLEKHN1 (D111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473442	NM_032129.3(PLEKHN1):c.1372G>A (p.Asp458Asn)	PLEKHN1 (D470N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1011331	NM_005101.4(ISG15):c.358G>A (p.Asp120Asn)	ISG15 (D120N)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GUncertain significance
Select item 2257108	NM_005101.4(ISG15):c.494G>A (p.Ser165Asn)	ISG15 (S165N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242652	NM_198576.4(AGRN):c.1002C>A (p.Asn334Lys)	AGRN (N229K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096694	NM_198576.4(AGRN):c.1447A>G (p.Asn483Asp)	AGRN (N378D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 640586	NM_198576.4(AGRN):c.1769G>A (p.Ser590Asn)	AGRN (S485N +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 643985	NM_198576.4(AGRN):c.2496C>G (p.Asn832Lys)	AGRN (N832K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 864637	NM_198576.4(AGRN):c.3185G>A (p.Ser1062Asn)	AGRN (S1062N +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 934562	NM_198576.4(AGRN):c.3343G>A (p.Asp1115Asn)	AGRN (D1010N +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 2480620	NM_198576.4(AGRN):c.3512G>A (p.Ser1171Asn)	AGRN (S1066N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 474148	NM_198576.4(AGRN):c.5308G>A (p.Asp1770Asn)	AGRN (D1770N +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 541149	NM_198576.4(AGRN):c.5483A>G (p.Asn1828Ser)	AGRN (N1828S +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 2496581	NM_198576.4(AGRN):c.5618C>A (p.Thr1873Asn)	AGRN (T1772N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377711	NM_001205252.2(RNF223):c.56G>A (p.Ser19Asn)	RNF223 (S19N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346760	NM_001130045.2(TTLL10):c.274G>A (p.Asp92Asn)	TTLL10 (D92N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588644	NM_001130045.2(TTLL10):c.565G>A (p.Asp189Asn)	TTLL10 (D189N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358244	NM_001130045.2(TTLL10):c.1219G>A (p.Asp407Asn)	TTLL10 (D407N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350750	NM_001130045.2(TTLL10):c.1711G>A (p.Asp571Asn)	TTLL10 (D571N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412552	NM_001130045.2(TTLL10):c.1900G>A (p.Asp634Asn)	TTLL10 (D634N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316808	NM_016176.6(SDF4):c.920A>G (p.Asn307Ser)	SDF4 (N307S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 60484	NM_080605.4(B3GALT6):c.1A>G (p.Met1Val)	B3GALT6 (M1V)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GPathogenic
Select item 2535840	NM_080605.4(B3GALT6):c.112G>A (p.Asp38Asn)	B3GALT6 (D38N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281447	NM_080605.4(B3GALT6):c.818A>T (p.Asn273Ile)	B3GALT6 (N273I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 453100	NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser)	B3GALT6 (N273S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3135766	NM_001014980.3(C1QTNF12):c.841A>G (p.Asn281Asp)	C1QTNF12 (N281D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348134	NM_001130413.4(SCNN1D):c.2219G>A (p.Ser740Asn)	LOC110599576, SCNN1D (S740N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135692	NM_030649.3(ACAP3):c.2182G>A (p.Asp728Asn)	ACAP3 (D728N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335578	NM_030649.3(ACAP3):c.1825G>A (p.Asp609Asn)	ACAP3 (D609N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318156	NM_030649.3(ACAP3):c.1115G>A (p.Ser372Asn)	ACAP3 (S372N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241510	NM_030649.3(ACAP3):c.562G>A (p.Asp188Asn)	ACAP3 (D188N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135704	NM_030649.3(ACAP3):c.527A>G (p.Asn176Ser)	ACAP3 (N176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488780	NM_153339.3(PUSL1):c.450C>G (p.Asn150Lys)	PUSL1 (N150K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463955	NM_153339.3(PUSL1):c.677G>A (p.Ser226Asn)	PUSL1 (S226N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110097	NM_017871.6(INTS11):c.1595G>A (p.Ser532Asn)	INTS11 (S431N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286208	NM_017871.6(INTS11):c.1463G>A (p.Ser488Asn)	INTS11 (S387N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174007	NM_152228.3(TAS1R3):c.255C>G (p.Asn85Lys)	TAS1R3 (N85K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614984	NM_152228.3(TAS1R3):c.262G>A (p.Asp88Asn)	TAS1R3 (D88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529573	NM_152228.3(TAS1R3):c.621C>G (p.Asn207Lys)	TAS1R3 (N207K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340049	NM_152228.3(TAS1R3):c.646G>A (p.Asp216Asn)	TAS1R3 (D216N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301116	NM_152228.3(TAS1R3):c.1346A>G (p.Asn449Ser)	TAS1R3 (N449S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329266	NM_152228.3(TAS1R3):c.1363G>A (p.Asp455Asn)	TAS1R3 (D455N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588607	NM_152228.3(TAS1R3):c.1408G>A (p.Asp470Asn)	TAS1R3 (D470N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463023	NM_152228.3(TAS1R3):c.1558G>A (p.Asp520Asn)	TAS1R3 (D520N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383358	NM_152228.3(TAS1R3):c.1603G>A (p.Asp535Asn)	TAS1R3 (D535N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282552	NM_001330311.2(DVL1):c.1895G>A (p.Ser632Asn)	DVL1 (S607N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3086372	NM_001330311.2(DVL1):c.1579C>A (p.His527Asn)	DVL1 (H502N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1364784	NM_001330311.2(DVL1):c.1523A>G (p.Asn508Ser)	DVL1 (N483S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1699457	NM_001330311.2(DVL1):c.691G>C (p.Ala231Pro)	DVL1 (A231P)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 2	GUncertain significance
Select item 2221490	NM_001330311.2(DVL1):c.377G>A (p.Ser126Asn)	DVL1 (S126N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516805	NM_032348.4(MXRA8):c.1318A>G (p.Asn440Asp)	MXRA8 (N440D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394472	NM_032348.4(MXRA8):c.274T>A (p.Tyr92Asn)	MXRA8 (Y83N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268885	NM_017900.3(AURKAIP1):c.537G>C (p.Lys179Asn)	AURKAIP1 (K179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139978	NM_030937.6(CCNL2):c.1462C>A (p.His488Asn)	CCNL2 (H488N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2269097	NM_030937.6(CCNL2):c.1388G>A (p.Ser463Asn)	CCNL2 (S241N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207096	NM_017971.4(MRPL20):c.267T>A (p.Asn89Lys)	MRPL20 (N89K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289885	NM_022834.5(VWA1):c.521A>G (p.Asn174Ser)	VWA1 (N174S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332395	NM_022834.5(VWA1):c.522C>A (p.Asn174Lys)	VWA1 (L43I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255551	NM_001039211.3(ATAD3C):c.895G>A (p.Asp299Asn)	ATAD3C (D299N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130732	NM_001039211.3(ATAD3C):c.978G>T (p.Lys326Asn)	ATAD3C (K326N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273270	NM_031921.6(ATAD3B):c.368C>A (p.Thr123Asn)	ATAD3B (T123N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130708	NM_031921.6(ATAD3B):c.455A>G (p.Asn152Ser)	ATAD3B (N106S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237485	NM_031921.6(ATAD3B):c.1114G>A (p.Asp372Asn)	ATAD3B (D326N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253627	NM_031921.6(ATAD3B):c.1277G>A (p.Ser426Asn)	ATAD3B (S426N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339661	NM_001170535.3(ATAD3A):c.283-47G>A	ATAD3A (S127N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319798	NM_001170535.3(ATAD3A):c.1039A>C (p.Asn347His)	ATAD3A (N268H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130679	NM_001170535.3(ATAD3A):c.1205G>A (p.Ser402Asn)	ATAD3A (S323N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686723	NM_001170535.3(ATAD3A):c.1338G>T (p.Lys446Asn)	ATAD3A (K367N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3170535	NM_014188.3(SSU72):c.197A>G (p.Asn66Ser)	SSU72 (N66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526419	NM_001170687.4(MIB2):c.263A>T (p.Asn88Ile)	MIB2 (N88I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282238	NM_001170687.4(MIB2):c.994G>A (p.Asp332Asn)	MIB2 (D328N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294719	NM_001170687.4(MIB2):c.2173G>A (p.Asp725Asn)	MIB2 (D725N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471976	NM_001170687.4(MIB2):c.2441A>G (p.Asn814Ser)	MIB2 (N810S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394470	NM_001170687.4(MIB2):c.2454C>G (p.Asn818Lys)	MIB2 (N753K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2320110	NM_001290264.2(SLC35E2B):c.1040A>G (p.Asn347Ser)	SLC35E2B (N347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206824	NM_024011.4(CDK11A):c.1618G>A (p.Asp540Asn)	CDK11A (D543N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141449	NM_024011.4(CDK11A):c.1087G>A (p.Asp363Asn)	CDK11A (D353N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343257	NM_024011.4(CDK11A):c.1033G>A (p.Asp345Asn)	CDK11A (D344N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164379	NR_173244.1(SLC35E2A):n.1048T>A	SLC35E2A	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3319597	NR_173244.1(SLC35E2A):n.990A>G	SLC35E2A	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3319599	NR_173244.1(SLC35E2A):n.862C>A	SLC35E2A	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2382937	NM_023018.5(NADK):c.1015A>C (p.Asn339His)	NADK (N307H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621428	NM_023018.5(NADK):c.31A>T (p.Asn11Tyr)	NADK (N11Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 980