E Esmatjes - ClinVar - NCBI

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The following term was not found in ClinVar: Esmatjes.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2537849	NM_001385641.1(SAMD11):c.946G>A (p.Glu316Lys)	SAMD11 (E316K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321337	NM_001385641.1(SAMD11):c.1027G>A (p.Glu343Lys)	SAMD11 (E343K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157640	NM_001385641.1(SAMD11):c.1195+3G>A	SAMD11 (E221K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615331	NM_001385641.1(SAMD11):c.1904A>G (p.Glu635Gly)	SAMD11 (E635G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1011134	NM_001385641.1(SAMD11):c.2113A>G (p.Lys705Glu)	SAMD11, LOC129929063 (K542E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 961140	NM_001385641.1(SAMD11):c.2195G>A (p.Gly732Glu)	SAMD11 (G569E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3316074	NM_001385641.1(SAMD11):c.2202C>G (p.Asp734Glu)	SAMD11 (D735E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2421647	NM_001385641.1(SAMD11):c.2228A>T (p.Glu743Val)	SAMD11 (E580V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2542889	NM_015658.4(NOC2L):c.2035G>A (p.Glu679Lys)	NOC2L (E679K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324817	NM_015658.4(NOC2L):c.1984A>G (p.Lys662Glu)	NOC2L (K662E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290351	NM_015658.4(NOC2L):c.1805A>G (p.Glu602Gly)	NOC2L (E602G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299139	NM_015658.4(NOC2L):c.1075C>G (p.Gln359Glu)	NOC2L (Q359E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200957	NM_015658.4(NOC2L):c.973A>G (p.Lys325Glu)	NOC2L (K325E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300218	NM_015658.4(NOC2L):c.731G>A (p.Gly244Glu)	NOC2L (G244E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250548	NM_015658.4(NOC2L):c.574G>A (p.Glu192Lys)	NOC2L (E192K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200952	NM_015658.4(NOC2L):c.398G>A (p.Gly133Glu)	NOC2L (G133E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115507	NM_198317.3(KLHL17):c.16G>C (p.Glu6Gln)	KLHL17, LOC129929064 (E6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273289	NM_198317.3(KLHL17):c.187G>A (p.Glu63Lys)	KLHL17 (E63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288903	NM_198317.3(KLHL17):c.682G>A (p.Glu228Lys)	KLHL17 (E228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115510	NM_198317.3(KLHL17):c.939G>C (p.Glu313Asp)	KLHL17 (E313D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553506	NM_198317.3(KLHL17):c.1014G>T (p.Glu338Asp)	KLHL17 (E338D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215163	NM_032129.3(PLEKHN1):c.124G>A (p.Glu42Lys)	PLEKHN1 (E42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304233	NM_032129.3(PLEKHN1):c.352G>A (p.Glu118Lys)	PLEKHN1 (E118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307708	NM_032129.3(PLEKHN1):c.413G>A (p.Gly138Glu)	PLEKHN1 (G138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215180	NM_032129.3(PLEKHN1):c.451G>C (p.Glu151Gln)	PLEKHN1 (E151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363140	NM_032129.3(PLEKHN1):c.529G>A (p.Glu177Lys)	PLEKHN1 (E177K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310557	NM_032129.3(PLEKHN1):c.763G>A (p.Glu255Lys)	PLEKHN1 (E255K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470732	NM_032129.3(PLEKHN1):c.829G>A (p.Glu277Lys)	PLEKHN1 (E329K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364663	NM_032129.3(PLEKHN1):c.907G>A (p.Glu303Lys)	PLEKHN1 (E303K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215188	NM_032129.3(PLEKHN1):c.982G>A (p.Glu328Lys)	PLEKHN1 (E380K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215162	NM_032129.3(PLEKHN1):c.1198G>A (p.Glu400Lys)	PLEKHN1 (E400K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238455	NM_032129.3(PLEKHN1):c.1450C>G (p.Gln484Glu)	PLEKHN1 (Q449E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394843	NM_032129.3(PLEKHN1):c.1681G>A (p.Glu561Lys)	PLEKHN1 (E573K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105504	NM_021170.4(HES4):c.360G>C (p.Glu120Asp)	HES4, LOC129929069 (E88D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1354468	NM_005101.4(ISG15):c.83T>A (p.Leu28Gln)	ISG15 (L28Q)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GConflicting classifications of pathogenicity
Select item 666960	NM_198576.4(AGRN):c.574_578dup (p.Ser194fs)	AGRN (S194fs +1 more)	Microsatellite (frameshift variant)	Congenital myasthenic syndrome 8 +1 more	GPathogenic/Likely pathogenic
Select item 2495309	NM_198576.4(AGRN):c.1022A>C (p.Glu341Ala)	AGRN (E341A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1056623	NM_198576.4(AGRN):c.1352G>A (p.Arg451His)	AGRN (R346H +1 more)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 1042594	NM_198576.4(AGRN):c.1645G>A (p.Glu549Lys)	AGRN (E444K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1366863	NM_198576.4(AGRN):c.1729G>A (p.Glu577Lys)	AGRN (E472K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 541145	NM_198576.4(AGRN):c.1969G>A (p.Glu657Lys)	AGRN (E657K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1408541	NM_198576.4(AGRN):c.1978C>T (p.Arg660Trp)	AGRN (R555W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 263169	NM_198576.4(AGRN):c.2266G>A (p.Ala756Thr)	AGRN (A756T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2153720	NM_198576.4(AGRN):c.2789A>C (p.Glu930Ala)	AGRN (E930A +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 835290	NM_198576.4(AGRN):c.3256G>A (p.Glu1086Lys)	AGRN (E1086K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 1507814	NM_198576.4(AGRN):c.3301G>A (p.Glu1101Lys)	AGRN (E1101K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2494833	NM_198576.4(AGRN):c.3488G>A (p.Gly1163Glu)	AGRN (G1058E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 569151	NM_198576.4(AGRN):c.3803G>A (p.Gly1268Glu)	AGRN (G1268E +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 571223	NM_198576.4(AGRN):c.4435G>A (p.Glu1479Lys)	AGRN (E1479K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 1156526	NM_198576.4(AGRN):c.4476C>T (p.Asp1492=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 1690680	NM_198576.4(AGRN):c.4585C>T (p.Arg1529Cys)	AGRN (R1424C +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1420947	NM_198576.4(AGRN):c.4790G>T (p.Cys1597Phe)	AGRN (C1597F +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 582351	NM_198576.4(AGRN):c.4834C>G (p.Gln1612Glu)	AGRN (Q1612E +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GUncertain significance
Select item 2484374	NM_198576.4(AGRN):c.5063G>A (p.Gly1688Glu)	AGRN (G1583E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097121	NM_198576.4(AGRN):c.5537G>A (p.Gly1846Glu)	AGRN (G1850E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 579722	NM_198576.4(AGRN):c.5626G>A (p.Glu1876Lys)	AGRN (E1876K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3155357	NM_001205252.2(RNF223):c.505G>A (p.Glu169Lys)	RNF223 (E169K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155354	NM_001205252.2(RNF223):c.412G>A (p.Glu138Lys)	RNF223 (E138K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236155	NM_017891.5(C1orf159):c.232G>A (p.Glu78Lys)	C1orf159 (E78K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256685	NM_017891.5(C1orf159):c.85G>A (p.Glu29Lys)	C1orf159 (E29K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184529	NM_001130045.2(TTLL10):c.378T>A (p.Asp126Glu)	TTLL10 (D126E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472947	NM_001130045.2(TTLL10):c.886G>A (p.Glu296Lys)	TTLL10 (E223K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321822	NM_001130045.2(TTLL10):c.917A>C (p.Glu306Ala)	TTLL10 (E233A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455748	NM_001130045.2(TTLL10):c.991G>A (p.Glu331Lys)	TTLL10 (E258K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398750	NM_001130045.2(TTLL10):c.1357A>G (p.Lys453Glu)	TTLL10 (K453E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184525	NM_001130045.2(TTLL10):c.1999G>A (p.Glu667Lys)	TTLL10 (E667K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184526	NM_001130045.2(TTLL10):c.2001G>T (p.Glu667Asp)	TTLL10 (E667D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392357	NM_004195.3(TNFRSF18):c.205G>A (p.Glu69Lys)	TNFRSF18 (E69K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394592	NM_003327.4(TNFRSF4):c.510C>A (p.Asp170Glu)	TNFRSF4 (D170E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2280826	NM_003327.4(TNFRSF4):c.358A>G (p.Lys120Glu)	TNFRSF4 (K120E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316809	NM_016176.6(SDF4):c.989A>G (p.Glu330Gly)	SDF4 (E330G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374627	NM_016176.6(SDF4):c.798C>G (p.Asp266Glu)	SDF4 (D266E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316813	NM_016176.6(SDF4):c.550G>A (p.Glu184Lys)	SDF4 (E184K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316814	NM_016176.6(SDF4):c.499G>A (p.Glu167Lys)	SDF4 (E167K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537397	NM_016176.6(SDF4):c.376G>A (p.Glu126Lys)	SDF4 (E126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158911	NM_016176.6(SDF4):c.258C>G (p.Asp86Glu)	SDF4 (D86E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529210	NM_016176.6(SDF4):c.254A>G (p.Glu85Gly)	SDF4 (E85G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158910	NM_016176.6(SDF4):c.191G>A (p.Gly64Glu)	SDF4 (G64E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316807	NM_016176.6(SDF4):c.135G>C (p.Glu45Asp)	SDF4 (E45D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 661179	NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu)	B3GALT6 (A114E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1436880	NM_080605.4(B3GALT6):c.520G>C (p.Glu174Gln)	B3GALT6 (E174Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2229207	NM_080605.4(B3GALT6):c.521A>C (p.Glu174Ala)	B3GALT6 (E174A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132543	NM_080605.4(B3GALT6):c.621C>G (p.Asp207Glu)	B3GALT6 (D207E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132544	NM_080605.4(B3GALT6):c.726C>A (p.Asp242Glu)	B3GALT6 (D242E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 666963	NM_080605.4(B3GALT6):c.763C>T (p.Gln255Ter)	B3GALT6 (Q255*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia	GLikely pathogenic
Select item 3135749	NM_001014980.3(C1QTNF12):c.367G>A (p.Glu123Lys)	C1QTNF12 (E123K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457230	NM_001014980.3(C1QTNF12):c.154G>A (p.Glu52Lys)	C1QTNF12 (E52K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376110	NM_001130413.4(SCNN1D):c.352G>A (p.Glu118Lys)	SCNN1D (E118K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240054	NM_001130413.4(SCNN1D):c.1701G>C (p.Glu567Asp)	LOC110599576, SCNN1D (E567D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595862	NM_001130413.4(SCNN1D):c.1747G>A (p.Glu583Lys)	LOC110599576, SCNN1D (E583K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283453	NM_001130413.4(SCNN1D):c.1814A>G (p.Glu605Gly)	LOC110599576, SCNN1D (E605G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410900	NM_001130413.4(SCNN1D):c.1945C>G (p.Gln649Glu)	LOC110599576, SCNN1D (Q649E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344045	NM_001130413.4(SCNN1D):c.2362G>A (p.Glu788Lys)	LOC110599576, SCNN1D (E788K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158616	NM_001130413.4(SCNN1D):c.2367G>T (p.Glu789Asp)	LOC110599576, SCNN1D (E789D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278962	NM_030649.3(ACAP3):c.997G>A (p.Glu333Lys)	ACAP3 (E333K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624388	NM_030649.3(ACAP3):c.337G>A (p.Glu113Lys)	ACAP3 (E113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360917	NM_030649.3(ACAP3):c.213C>A (p.Asp71Glu)	ACAP3 (D71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261150	NM_030649.3(ACAP3):c.61G>A (p.Glu21Lys)	ACAP3 (E21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307579	NM_153339.3(PUSL1):c.673G>A (p.Glu225Lys)	PUSL1 (E225K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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