ClinVar (all) for Orgtrack (Select 506076) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576980	NM_023110.3(FGFR1):c.1179_2378dup (p.Val429_Asn763delinsGluSerArgTrpGlyIleCysThrLeuSerThrThrSerLeuSerGlyProLeuMetProCysProLeuHisCysProTer)	FGFR1	Duplication (nonsense +3 more)	Astrocytoma	GUncertain significance
Select item 1801817	NM_021733.2(TSKS):c.1731C>A (p.Ser577Arg)	TSKS (S577R)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801816	NM_017636.4(TRPM4):c.2543G>T (p.Gly848Val)	TRPM4 (G312V +4 more)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1801815	NM_015059.3(TLN2):c.5728C>A (p.Pro1910Thr)	TLN2 (P1910T)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801814	NM_001350162.2(TEX15):c.8824A>T (p.Ile2942Phe)	TEX15 (I2559F +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801813	NM_001365809.2(SYT7):c.193C>T (p.Arg65Cys)	SYT7 (R65C)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801812	NM_006873.4(STON1):c.2072G>T (p.Gly691Val)	STON1, STON1-GTF2A1L (G691V)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801811	NM_022842.5(CDCP1):c.2170A>T (p.Lys724Ter)	CDCP1 (K724*)	Single nucleotide variant (nonsense)	Myoepithelial tumor	GUncertain significance
Select item 1801810	NM_015670.6(SENP3):c.1544G>T (p.Trp515Leu)	SENP3, SENP3-EIF4A1 (W515L)	Single nucleotide variant (non-coding transcript variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1801809	NM_001039.4(SCNN1G):c.1691G>A (p.Arg564His)	SCNN1G (R564H)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801808	NM_001377960.1(RBM12B):c.486G>T (p.Leu162Phe)	RBM12B (L162F)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801807	NM_007039.4(PTPN21):c.339G>C (p.Gln113His)	PTPN21 (Q113H)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801806	NM_000959.4(PTGFR):c.449A>T (p.Lys150Ile)	PTGFR (K150I)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801805	NM_138777.5(MRRF):c.79T>G (p.Ser27Ala)	MRRF (S27A +1 more)	Single nucleotide variant (missense variant +3 more)	Myoepithelial tumor	GUncertain significance
Select item 1801804	NM_001101391.3(LINGO3):c.396C>A (p.Asp132Glu)	LINGO3 (D132E)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801803	NM_000213.5(ITGB4):c.2021G>A (p.Arg674Gln)	ITGB4 (R674Q)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801802	NM_031308.4(EPPK1):c.1912G>A (p.Gly638Ser)	EPPK1 (G638S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801801	NM_024706.5(ZNF668):c.1549G>C (p.Val517Leu)	ZNF668 (V517L +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801800	NM_003737.4(DCHS1):c.8890C>T (p.Arg2964Cys)	DCHS1 (R2964C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801799	NM_052820.4(CORO2A):c.398G>A (p.Arg133His)	CORO2A (R133H)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801798	NM_001846.4(COL4A2):c.1197G>C (p.Arg399Ser)	COL4A2 (R399S)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801797	NM_018071.5(ARHGEF40):c.1760_1771del (p.Gly587_Leu591delinsVal)	ARHGEF40	Deletion (5 prime UTR variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1801796	NM_001162383.2(ARHGEF2):c.2072G>T (p.Ser691Ile)	ARHGEF2 (S663I +4 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801795	NM_004690.4(LATS1):c.375A>T (p.Lys125Asn)	LATS1 (K125N +1 more)	Single nucleotide variant (missense variant +2 more)	Myoepithelial tumor	GPathogenic
Select item 1801794	NM_033396.3(TNKS1BP1):c.2386A>G (p.Ile796Val)	TNKS1BP1 (I796V)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801793	NM_025268.4(TMEM121):c.878_880del (p.Val293_Pro294delinsAla)	TMEM121	Deletion (inframe_indel)	Myoepithelial tumor	GUncertain significance
Select item 1801792	NM_001080477.4(TENM3):c.918C>A (p.Ser306Arg)	TENM3 (S306R)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801791	NM_012254.3(SLC27A5):c.1076C>A (p.Ala359Asp)	SLC27A5 (A275D +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801790	NM_021625.5(TRPV4):c.1186G>T (p.Asp396Tyr)	TRPV4 (D349Y +2 more)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1801789	NM_004259.7(RECQL5):c.1513A>C (p.Asn505His)	RECQL5 (N505H)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801788	NM_001317162.2(PLAGL1):c.1321C>T (p.Pro441Ser)	PLAGL1 (P389S +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801787	NM_000528.4(MAN2B1):c.928A>T (p.Asn310Tyr)	MAN2B1 (N310Y)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801786	NM_001301782.2(LENG9):c.551C>A (p.Ala184Asp)	LENG9 (A184D)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801785	NM_001007237.3(IGSF3):c.2179G>A (p.Gly727Ser)	IGSF3 (G727S +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801784	NM_020180.4(CELF4):c.658-152G>A	CELF4, LOC105372068	Single nucleotide variant (intron variant)	Myoepithelial tumor	GUncertain significance
Select item 1801783	NM_006185.4(NUMA1):c.3716G>C (p.Arg1239Pro)	NUMA1 (R1239P)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GPathogenic
Select item 1801782	NM_004454.3(ETV5):c.536A>C (p.His179Pro)	ETV5, ETV5-AS1 (H179P)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GPathogenic
Select item 1801781	NM_003382.5(VIPR2):c.51+37G>A	VIPR2	Single nucleotide variant (intron variant)	Myoepithelial tumor	GUncertain significance
Select item 1801780	NM_005015.5(OXA1L):c.961T>G (p.Ser321Ala)	OXA1L (S321A)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801779	NM_018052.5(VAC14):c.934G>C (p.Asp312His)	VAC14 (D312H +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801778	NM_148674.5(SMC1B):c.3475G>C (p.Asp1159His)	SMC1B (D1159H)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1801777	NM_198692.3(KRTAP10-11):c.112G>A (p.Ala38Thr)	KRTAP10-11, TSPEAR (A38T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1801776	NM_002209.3(ITGAL):c.101G>A (p.Arg34Gln)	ITGAL (R34Q)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801775	NM_023015.5(INTS3):c.2779T>G (p.Leu927Val)	INTS3 (L927V)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801774	NM_000876.4(IGF2R):c.2566G>A (p.Gly856Ser)	IGF2R (G856S)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801773	NM_001367711.1(HRH2):c.248A>G (p.Lys83Arg)	HRH2 (K83R)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1801772	NM_133445.3(GRIN3A):c.439T>A (p.Ser147Thr)	GRIN3A (S147T)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801771	NM_001142616.3(EHBP1):c.1699A>T (p.Ser567Cys)	EHBP1 (S567C +1 more)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1801770	NM_004938.4(DAPK1):c.415G>C (p.Asp139His)	DAPK1 (D139H)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801769	NM_000901.5(NR3C2):c.685A>G (p.Ile229Val)	NR3C2 (I229V)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1801768	NM_152562.4(CDCA2):c.696C>G (p.Asp232Glu)	CDCA2 (D217E +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801767	NM_015155.3(LARP4B):c.1345G>T (p.Val449Phe)	LARP4B (V449F)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GLikely pathogenic
Select item 1801766	NM_019589.3(YLPM1):c.2537A>G (p.Gln846Arg)	YLPM1 (Q846R)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801765	NM_020698.4(TMCC3):c.1149C>A (p.Cys383Ter)	TMCC3 (C352* +1 more)	Single nucleotide variant (nonsense)	Myoepithelial tumor	GUncertain significance
Select item 1801764	NM_004612.4(TGFBR1):c.98-866A>G	TGFBR1	Single nucleotide variant (intron variant)	Myoepithelial tumor	GUncertain significance
Select item 1801763	NM_018319.4(TDP1):c.1695G>A (p.Glu565=)	TDP1	Single nucleotide variant (synonymous variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1801762	NM_024562.2(TANGO6):c.659T>C (p.Phe220Ser)	TANGO6 (F220S)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801761	NM_033643.3(RPL36):c.34A>G (p.Asn12Asp)	RPL36 (N12D)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801760	NM_004851.3(NAPSA):c.609G>T (p.Met203Ile)	NAPSA (M203I)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801759	NM_021801.5(MMP26):c.395G>A (p.Ser132Asn)	MMP26 (S132N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801758	NM_001137550.2(LRRFIP1):c.131G>A (p.Arg44His)	LRRFIP1 (R34H +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801757	NM_004225.3(MFHAS1):c.818A>G (p.Gln273Arg)	MFHAS1 (Q273R)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801756	NM_014714.4(IFT140):c.1141A>G (p.Ile381Val)	IFT140, LOC105371046 (I381V)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801755	NM_002114.4(HIVEP1):c.6364A>G (p.Asn2122Asp)	HIVEP1 (N2122D)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801754	NM_001009993.4(FAM168B):c.481C>A (p.Leu161Met)	FAM168B (L161M)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801753	NM_004445.6(EPHB6):c.197G>C (p.Arg66Pro)	EPHB6 (R66P)	Single nucleotide variant (5 prime UTR variant +2 more)	Myoepithelial tumor	GUncertain significance
Select item 1801752	NM_021814.5(ELOVL5):c.58+1262G>A	ELOVL5 (C57Y)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1801751	NM_015439.3(CCDC28A):c.61G>A (p.Val21Ile)	CCDC28A (V21I)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801750	NM_006231.4(POLE):c.2489A>G (p.Glu830Gly)	POLE (E830G)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GPathogenic
Select item 1801749	NM_001370338.1(SLC7A2):c.1195+360C>T	SLC7A2 (T390M +1 more)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1801748	NM_002241.5(KCNJ10):c.361T>G (p.Phe121Val)	KCNJ10 (F121V)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801747	NM_024816.3(RABEP2):c.175G>A (p.Ala59Thr)	LOC130058743, RABEP2 (A59T)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801746	NM_152268.4(PARS2):c.559A>T (p.Lys187Ter)	PARS2 (K187*)	Single nucleotide variant (nonsense)	Myoepithelial tumor	GUncertain significance
Select item 1801745	NM_004714.3(DYRK1B):c.586A>C (p.Asn196His)	DYRK1B (N196H)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801744	NM_001048166.1(STIL):c.1639C>A (p.Gln547Lys)	STIL (Q500K +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GPathogenic
Select item 1801743	NM_015001.3(SPEN):c.5197G>A (p.Ala1733Thr)	SPEN (A1733T)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GPathogenic
Select item 1801742	NM_014363.6(SACS):c.734A>T (p.Asp245Val)	SACS (D245V +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801741	NM_001184970.3(PACSIN2):c.1361C>G (p.Thr454Ser)	PACSIN2 (T374S +4 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801740	NM_032951.3(MLXIPL):c.820G>A (p.Ala274Thr)	MLXIPL (A274T)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1801739	NM_001297436.2(HAS1):c.233G>T (p.Arg78Leu)	HAS1 (R78L +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801738	NM_006321.4(ARIH2):c.847G>A (p.Asp283Asn)	ARIH2 (D100N +4 more)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1801737	NM_053277.3(CLIC6):c.787G>A (p.Gly263Arg)	CLIC6 (G263R)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801736	NM_014045.5(LRP10):c.1798C>T (p.Arg600Cys)	LRP10 (R600C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1801735	NM_001376312.2(GTDC1):c.371T>G (p.Phe124Cys)	GTDC1 (F124C +1 more)	Single nucleotide variant (missense variant +2 more)	Myoepithelial tumor	GUncertain significance
Select item 1801734	NM_000814.6(GABRB3):c.479C>A (p.Ala160Glu)	GABRB3 (A160E +2 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801733	NM_022111.4(CLSPN):c.3585A>T (p.Glu1195Asp)	CLSPN (E1131D +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801732	NM_001025389.2(AMPD3):c.2101G>A (p.Val701Met)	AMPD3 (V542M +3 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801731	NM_004192.4(ASMTL):c.599C>T (p.Pro200Leu)	ASMTL (P142L +2 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801730	NM_002896.4(RBM4):c.899C>T (p.Ser300Phe)	RBM14-RBM4, RBM4 (S275F +1 more)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 1801729	NM_025074.7(FRAS1):c.2143C>T (p.His715Tyr)	FRAS1 (H715Y)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1801728	NM_001243439.2(SPECC1):c.1747A>G (p.Met583Val)	SPECC1 (M359V +3 more)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GLikely pathogenic
Select item 1677306	NM_203500.2(KEAP1):c.814C>T (p.Arg272Cys)	KEAP1 (R272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677305	NM_001291415.2(KDM6A):c.3208_3209del (p.Lys1070fs)	KDM6A (K1018fs +5 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1677304	NM_005343.4(HRAS):c.37_38inv (p.Gly13Pro)	HRAS, LRRC56 (G13P)	Inversion (missense variant +1 more)	not specified	GUncertain significance
Select item 1677303	NM_005269.3(GLI1):c.3301T>C (p.Phe1101Leu)	GLI1 (F1060L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677302	NM_005245.4(FAT1):c.8322T>A (p.Tyr2774Ter)	FAT1 (Y2774*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1677301	NM_000389.5(CDKN1A):c.154G>C (p.Asp52His)	CDKN1A (D52H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677300	NM_000389.5(CDKN1A):c.146G>C (p.Trp49Ser)	CDKN1A (W49S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677299	NM_138554.5(TLR4):c.526_544del (p.Asn176fs)	TLR4 (N136fs +1 more)	Deletion (frameshift variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1677298	NM_176795.5(HRAS):c.451-12_451del	HRAS, LRRC56	Deletion (intron variant +1 more)	not specified	GUncertain significance

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