pygeum wilson s - ClinVar - NCBI

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The following term was not found in ClinVar: pygeum.
Showing results for Pygeum wilsonii. Your search for Pygeum wilsonii retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response
Select item 1067257	NM_002633.3(PGM1):c.988G>C (p.Gly330Arg)	PGM1 (G133R +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 14281	NM_000254.3(MTR):c.340-166A>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 181763	NM_014795.4(ZEB2):c.3499del (p.Ser1167fs)	ZEB2 (S1143fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 181748	NM_014795.4(ZEB2):c.3409G>A (p.Glu1137Lys)	ZEB2 (E1137K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 534639	NM_014795.4(ZEB2):c.3357G>C (p.Gln1119His)	ZEB2 (Q1119H +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 181746	NM_014795.4(ZEB2):c.3277C>G (p.Arg1093Gly)	ZEB2 (R1093G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2810828	NM_014795.4(ZEB2):c.3213_3214insGG (p.Gln1072fs)	ZEB2 (Q1072fs +1 more)	Insertion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2744546	NM_014795.4(ZEB2):c.3208_3213del (p.Tyr1070_Ser1071del)	ZEB2	Deletion (inframe_deletion)	Mowat-Wilson syndrome	GUncertain significance
Select item 56826	NM_014795.4(ZEB2):c.3211T>C (p.Ser1071Pro)	ZEB2 (S1071P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2835737	NM_014795.4(ZEB2):c.3210C>A (p.Tyr1070Ter)	ZEB2 (Y1046* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 489157	NM_014795.4(ZEB2):c.3206C>A (p.Ser1069Ter)	ZEB2 (S1069* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2014893	NM_014795.4(ZEB2):c.3203del (p.Gly1068fs)	ZEB2 (G1044fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1496351	NM_014795.4(ZEB2):c.3198_3202del (p.His1066fs)	ZEB2 (H1042fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 181756	NM_014795.4(ZEB2):c.3195dup (p.His1066fs)	ZEB2 (H1042fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2101413	NM_014795.4(ZEB2):c.3166C>T (p.Gln1056Ter)	ZEB2 (Q1032* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 1428527	NM_014795.4(ZEB2):c.3154G>T (p.Glu1052Ter)	ZEB2 (E1052* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 1026904	NM_014795.4(ZEB2):c.3146A>G (p.His1049Arg)	ZEB2 (H1025R +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 2837185	NM_014795.4(ZEB2):c.3134A>T (p.His1045Leu)	ZEB2 (H1021L +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2849803	NM_014795.4(ZEB2):c.3119ACC[3] (p.His1041_Leu1042insHis)	ZEB2	Microsatellite (inframe_insertion)	Mowat-Wilson syndrome	GUncertain significance
Select item 2077030	NM_014795.4(ZEB2):c.3100_3103del (p.Lys1034fs)	ZEB2 (K1034fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 405331	NM_014795.4(ZEB2):c.3095del (p.Cys1032fs)	ZEB2 (C1032fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic/Likely pathogenic
Select item 1071821	NM_014795.4(ZEB2):c.3094del (p.Cys1032fs)	ZEB2 (C1008fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2771822	NM_014795.4(ZEB2):c.3077_3084dup (p.Cys1029fs)	ZEB2 (C1005fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 181762	NM_014795.4(ZEB2):c.3073del (p.Arg1025fs)	ZEB2 (R1001fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1698349	NM_014795.4(ZEB2):c.3047G>A (p.Arg1016Gln)	ZEB2 (R1016Q +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 280856	NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)	ZEB2 (R1016* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome +2 more	GPathogenic/Likely pathogenic
Select item 181755	NM_014795.4(ZEB2):c.3002del (p.Cys1001fs)	ZEB2 (C1001fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2734276	NM_014795.4(ZEB2):c.2856del (p.Arg953fs)	ZEB2 (R929fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome +1 more	GPathogenic
Select item 2734277	NM_014795.4(ZEB2):c.2769C>A (p.Tyr923Ter)	ZEB2 (Y899* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 2203152	NM_014795.4(ZEB2):c.2769C>G (p.Tyr923Ter)	ZEB2 (Y923* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 160323	NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)	ZEB2 (R921* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 181743	NM_014795.4(ZEB2):c.2729T>C (p.Met910Thr)	ZEB2 (M910T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1172771	NM_014795.4(ZEB2):c.2717del (p.Pro906fs)	ZEB2 (P882fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 181741	NM_014795.4(ZEB2):c.2624T>G (p.Leu875Arg)	ZEB2 (L875R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 848011	NM_014795.4(ZEB2):c.2619_2620delinsAT (p.Asn873_Asn874delinsLysTyr)	ZEB2	Indel (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2857518	NM_014795.4(ZEB2):c.2553_2555del (p.Ser853del)	ZEB2 (S829del +1 more)	Deletion (inframe_deletion)	Mowat-Wilson syndrome	GUncertain significance
Select item 1101915	NM_014795.4(ZEB2):c.2549C>A (p.Ser850Tyr)	ZEB2 (S826Y +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2734278	NM_014795.4(ZEB2):c.2531T>G (p.Leu844Ter)	ZEB2 (L820* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 181739	NM_014795.4(ZEB2):c.2365T>C (p.Ser789Pro)	ZEB2 (S789P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 698511	NM_014795.4(ZEB2):c.2342A>G (p.Asn781Ser)	ZEB2 (N757S +1 more)	Single nucleotide variant (missense variant)	ZEB2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 181754	NM_014795.4(ZEB2):c.2228_2229del (p.Ser743fs)	ZEB2 (S719fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 189288	NM_014795.4(ZEB2):c.2177_2180del (p.Ser726fs)	ZEB2 (S726fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 189276	NM_014795.4(ZEB2):c.2179_2180del (p.Leu727fs)	ZEB2 (L727fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 857081	NM_014795.4(ZEB2):c.2050_2064del (p.Pro684_Val688del)	ZEB2	Deletion (inframe_deletion)	Mowat-Wilson syndrome	GUncertain significance
Select item 2018702	NM_014795.4(ZEB2):c.1910C>A (p.Ser637Ter)	ZEB2 (S637* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 181734	NM_014795.4(ZEB2):c.1681A>G (p.Thr561Ala)	ZEB2 (T561A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4757	NM_014795.4(ZEB2):c.1426dup (p.Met476fs)	ZEB2 (M476fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 95620	NM_014795.4(ZEB2):c.1381C>T (p.Gln461Ter)	ZEB2 (Q461* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 181731	NM_014795.4(ZEB2):c.1283T>C (p.Val428Ala)	ZEB2 (V428A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 280042	NM_014795.4(ZEB2):c.1102C>T (p.Gln368Ter)	ZEB2 (Q368* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome +1 more	GPathogenic
Select item 947462	NM_014795.4(ZEB2):c.1077_1081del (p.Ser360fs)	ZEB2 (S336fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1439651	NM_014795.4(ZEB2):c.1072T>A (p.Ser358Thr)	ZEB2 (S334T +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 181751	NM_014795.4(ZEB2):c.999del (p.Lys333fs)	ZEB2 (K309fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 181730	NM_014795.4(ZEB2):c.962A>C (p.His321Pro)	ZEB2 (H321P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985660	NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp)	ZEB2 (G282D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 945657	NM_014795.4(ZEB2):c.916+5G>A	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1766011	NM_014795.4(ZEB2):c.916+1G>A	ZEB2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 641571	NM_014795.4(ZEB2):c.857_858del (p.Glu286fs)	ZEB2 (E262fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1072214	NM_014795.4(ZEB2):c.818_821dup (p.Gln275fs)	ZEB2 (Q251fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1445094	NM_014795.4(ZEB2):c.712G>T (p.Glu238Ter)	ZEB2 (E214* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 1076322	NM_014795.4(ZEB2):c.696C>A (p.Tyr232Ter)	ZEB2 (Y208* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 181728	NM_014795.4(ZEB2):c.664C>T (p.Arg222Cys)	ZEB2 (R222C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 181727	NM_014795.4(ZEB2):c.477T>G (p.His159Gln)	ZEB2 (H159Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203155	NM_014795.4(ZEB2):c.425C>G (p.Ser142Ter)	ZEB2 (S118* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 4764	NM_014795.4(ZEB2):c.295AAC[1] (p.Asn100del)	ZEB2 (N100del)	Microsatellite (inframe_deletion)	Mowat-Wilson syndrome	GUncertain significance
Select item 180207	NM_014795.4(ZEB2):c.289del (p.Trp97fs)	ZEB2 (W97fs)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1956510	NM_014795.4(ZEB2):c.246GGAAGA[1] (p.Glu84_Glu85del)	ZEB2	Microsatellite (inframe_deletion)	Mowat-Wilson syndrome	GUncertain significance
Select item 181758	NM_014795.4(ZEB2):c.178_190delinsGTT (p.Thr60fs)	ZEB2 (T60fs)	Indel (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 934845	NM_014795.4(ZEB2):c.128A>G (p.Lys43Arg)	ZEB2 (K43R)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 181757	NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del)	ZEB2	Deletion (inframe_deletion)	Mowat-Wilson syndrome	GConflicting classifications of pathogenicity
Select item 44261	NM_001927.4(DES):c.407T>A (p.Leu136His)	DES (L136H)	Single nucleotide variant (missense variant)	not provided +20 more	GUncertain significance
Select item 3247279	NC_000002.11:g.(?_145274845)_(145274917_?)dup	ZEB2	Duplication	Mowat-Wilson syndrome	GUncertain significance
Select item 2425974	NC_000002.11:g.(?_145182343)_(145187613_?)del	ZEB2	Deletion	Mowat-Wilson syndrome	GUncertain significance
Select item 1456430	NC_000002.11:g.(?_145153959)_(145158894_?)del	ZEB2	Deletion	Mowat-Wilson syndrome	GPathogenic
Select item 1456429	NC_000002.11:g.(?_145274825)_(145274988_?)del	ZEB2	Deletion	Mowat-Wilson syndrome	GPathogenic
Select item 1072089	NC_000002.11:g.(?_145147018)_(145753167_?)del	ZEB2	Deletion	Mowat-Wilson syndrome	GPathogenic
Select item 1007970	NC_000002.11:g.(?_145182343)_(145182454_?)del	ZEB2	Deletion	Mowat-Wilson syndrome	GUncertain significance
Select item 16356	NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys)	FGFR3 (S279C)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +1 more	GPathogenic
Select item 666994	NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)	MTRR (R114*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblE +2 more	GPathogenic
Select item 12155	NM_000500.9(CYP21A2):c.293-13C>G	CYP21A2, LOC106780800	Single nucleotide variant (5 prime UTR variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +5 more	GPathogenic/Likely pathogenic
Select item 12164	NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)	CYP21A2, LOC106780800 (G81fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic STier I - Strong OOncogenic
Select item 1531	NM_000237.3(LPL):c.300C>A (p.Tyr100Ter)	LPL (Y100*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1545	NM_000237.3(LPL):c.306A>C (p.Arg102Ser)	LPL (R102S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1522	NM_000237.3(LPL):c.644G>A (p.Gly215Glu)	LPL (G215E)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +3 more	GPathogenic/Likely pathogenic
Select item 428829	NM_000264.5(PTCH1):c.1804C>T (p.Arg602Ter)	LOC100507346, PTCH1 (R536* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GPathogenic
Select item 632074	NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)	ADAMTS13 (D187H)	Single nucleotide variant (missense variant +1 more)	Upshaw-Schulman syndrome +2 more	GConflicting classifications of pathogenicity
Select item 549960	NM_000124.4(ERCC6):c.4063-1G>C	ERCC6	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 666409	NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)	SLC18A2 (P237H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 53092	NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)	KCNQ1 (R243H +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GPathogenic/Likely pathogenic
Select item 53103	NM_000218.3(KCNQ1):c.781G>A (p.Glu261Lys)	KCNQ1 (E261K +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GLikely pathogenic
Select item 52956	NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)	KCNQ1 (R366Q +2 more)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 3131	NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	KCNQ1 (R518* +4 more)	Single nucleotide variant (nonsense)	Long QT syndrome 1 +8 more	GPathogenic
Select item 53018	NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	KCNQ1 (R594Q +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +9 more	GPathogenic/Likely pathogenic
Select item 15585	NM_000518.5(HBB):c.401T>C (p.Val134Ala)	HBB, LOC107133510 +1 more (V134A)	Single nucleotide variant (missense variant)	HEMOGLOBIN RENERT	Gother
Select item 446740	NM_000518.4(HBB):c.[280T>C;364G>C]	HBB, LOC107133510 +2 more (E122Q +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN CLEVELAND	Gother
Select item 15138	NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	HBB, LOC106099062 +1 more (G70S)	Single nucleotide variant (missense variant)	Hb SS disease +11 more	GConflicting classifications of pathogenicity
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	HBB, LOC106099062 +1 more (E7V)	Single nucleotide variant (missense variant)	HBB-related disorder +15 more	GPathogenic
Select item 42596	NM_000256.3(MYBPC3):c.2096delC	MYBPC3	Deletion	Cardiomyopathy +5 more	GPathogenic

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