proton nitens - ClinVar - NCBI

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The following term was not found in ClinVar: nitens.
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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 998126	NM_006015.6(ARID1A):c.4689del (p.Pro1563_Met1564insTer)	ARID1A	Deletion (frameshift variant +1 more)	Colorectal cancer	GPathogenic
Select item 998125	NM_006015.6(ARID1A):c.5715del (p.Lys1905fs)	ARID1A (K1688fs +1 more)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 998147	NM_001048174.2(MUTYH):c.1562del (p.Gln521fs)	MUTYH (Q406fs +7 more)	Deletion (frameshift variant +1 more)	Colorectal cancer	GPathogenic
Select item 99371	NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)	ABCA4 (A1794D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 370032	NM_013386.5(SLC25A24):c.650G>A (p.Arg217His)	SLC25A24 (R198H +1 more)	Single nucleotide variant (missense variant)	Fontaine progeroid syndrome +1 more	GPathogenic
Select item 369980	NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys)	SLC25A24 (R198C +1 more)	Single nucleotide variant (missense variant)	Fontaine progeroid syndrome +1 more	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 1338832	GRCh38/hg38 1q32.3(chr1:212337801-213362035)	LOC122149494, LOC122149495 +66 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 3207864	NM_018252.3(PACC1):c.1040G>A (p.Ser347Asn)	PACC1 (S270N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3207863	NM_018252.3(PACC1):c.1037C>T (p.Thr346Met)	PACC1 (T269M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3303880	NM_018252.3(PACC1):c.926T>C (p.Leu309Pro)	PACC1 (L370P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3303877	NM_018252.3(PACC1):c.845T>C (p.Phe282Ser)	PACC1 (F212S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2565596	NM_018252.3(PACC1):c.785C>T (p.Thr262Ile)	PACC1 (Q214* +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207880	NM_018252.3(PACC1):c.758G>A (p.Arg253Gln)	PACC1 (R176Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482135	NM_018252.3(PACC1):c.750G>C (p.Glu250Asp)	PACC1 (E250D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207878	NM_018252.3(PACC1):c.710G>A (p.Arg237His)	PACC1 (R167H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3303878	NM_018252.3(PACC1):c.649G>T (p.Val217Leu)	PACC1 (V147L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207877	NM_018252.3(PACC1):c.586T>C (p.Phe196Leu)	PACC1 (F196L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207876	NM_018252.3(PACC1):c.572A>G (p.Lys191Arg)	PACC1 (K191R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207875	NM_018252.3(PACC1):c.563G>A (p.Arg188His)	PACC1 (R118H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481456	NM_018252.3(PACC1):c.475C>G (p.Pro159Ala)	PACC1 (P159A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207874	NM_018252.3(PACC1):c.436G>A (p.Asp146Asn)	PACC1 (D146N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207872	NM_018252.3(PACC1):c.424G>A (p.Gly142Ser)	PACC1 (G203S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207871	NM_018252.3(PACC1):c.380G>A (p.Ser127Asn)	PACC1 (S50N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207870	NM_018252.3(PACC1):c.364C>A (p.Gln122Lys)	PACC1 (Q183K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207869	NM_018252.3(PACC1):c.328C>T (p.Arg110Cys)	PACC1 (R33C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207867	NM_018252.3(PACC1):c.200C>T (p.Ser67Leu)	PACC1 (S128L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3303874	NM_018252.3(PACC1):c.193G>A (p.Val65Ile)	PACC1 (V126I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2466765	NM_018252.3(PACC1):c.167G>A (p.Arg56His)	PACC1 (R117H +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3303876	NM_018252.3(PACC1):c.122G>A (p.Gly41Asp)	PACC1 (G102D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3303875	NM_018252.3(PACC1):c.101C>T (p.Thr34Met)	PACC1 (T34M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3303879	NM_018252.3(PACC1):c.52G>A (p.Val18Ile)	PACC1 (V79I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207866	NM_018252.3(PACC1):c.36+781C>G	PACC1 (P59R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531553	NM_018252.3(PACC1):c.36+777G>C	PACC1 (V58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207865	NM_018252.3(PACC1):c.36+760G>C	PACC1 (W52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207868	NM_018252.3(PACC1):c.36+652C>T	PACC1 (P16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207879	NM_018252.3(PACC1):c.8G>C (p.Arg3Pro)	PACC1 (R3P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565220	GRCh37/hg19 1q32.3(chr1:212323040-212681049)x3	NENF, PPP2R5A +1 more	Copy number gain	not provided	GLikely benign
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 997097	NM_003183.6(ADAM17):c.851T>C (p.Ile284Thr)	ADAM17 (I284T +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1 +1 more	GConflicting classifications of pathogenicity
Select item 998146	NM_000251.3(MSH2):c.43del (p.Ala15fs)	MSH2 (A15fs)	Deletion (frameshift variant +1 more)	Colorectal cancer	GPathogenic
Select item 567689	NM_000179.3(MSH6):c.2079del (p.Lys693fs)	MSH6 (K563fs +2 more)	Deletion (frameshift variant)	Lynch syndrome 5 +4 more	GPathogenic
Select item 998151	NM_000534.5(PMS1):c.2766del (p.His923fs)	PMS1 (H722fs +5 more)	Deletion (frameshift variant +1 more)	Colorectal cancer	GPathogenic
Select item 998148	NM_001130158.3(MYO1B):c.2775del (p.Lys925fs)	MYO1B (K867fs +2 more)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 599650	NM_018897.3(DNAH7):c.11947C>T (p.Arg3983Trp)	DNAH7 (R3983W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 599649	NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser)	DNAH7 (G2737S)	Single nucleotide variant (missense variant)	Abdominal situs inversus +1 more	GPathogenic
Select item 253023	NM_001378452.1(ITPR1):c.5504T>C (p.Leu1835Pro)	ITPR1 (L1787P +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 29	GPathogenic
Select item 39444	NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)	SCN5A (R222Q)	Single nucleotide variant (missense variant +1 more)	SUDDEN INFANT DEATH SYNDROME +8 more	GPathogenic
Select item 242206	NM_000335.5(SCN5A):c.656G>A (p.Arg219His)	SCN5A (R219H)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia +5 more	GConflicting classifications of pathogenicity
Select item 545525	NM_001690.4(ATP6V1A):c.1045G>A (p.Asp349Asn)	ATP6V1A (D349N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 3	GPathogenic
Select item 208419	NM_001353108.3(CEP63):c.686_687delinsTT (p.Arg229Leu)	CEP63 (R229L +3 more)	Indel (missense variant +1 more)	Developmental dyslexia	Gnot provided
Select item 998156	NM_173653.4(SLC9A9):c.587del (p.Asn196fs)	SLC9A9 (N196fs)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 998149	NM_006218.4(PIK3CA):c.685del (p.Thr229fs)	PIK3CA (T229fs)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 427806	NM_001510.4(GRID2):c.2128C>T (p.Arg710Trp)	GRID2 (R710W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 18	GPathogenic
Select item 998140	NM_001349798.2(FBXW7):c.256del (p.Ser86fs)	FBXW7 (S86fs)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 437868	NM_018359.5(UFSP2):c.1277A>C (p.Asp426Ala)	UFSP2 (D426A)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, di rocco type +1 more	GPathogenic
Select item 581412	NM_004168.4(SDHA):c.1352G>A (p.Arg451His)	SDHA (R451H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 625848	NM_004174.4(SLC9A3):c.1039G>A (p.Glu347Lys)	SLC9A3 (E347K)	Single nucleotide variant (missense variant)	Congenital secretory sodium diarrhea 8	GLikely pathogenic
Select item 998150	NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)	PIK3R1 (K148fs +3 more)	Deletion (frameshift variant)	SHORT syndrome +2 more	GPathogenic/Likely pathogenic
Select item 998124	NM_000038.6(APC):c.3753_3754del (p.Ser1252fs)	APC (S1092fs +12 more)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 998123	NM_000038.6(APC):c.6907G>T (p.Gly2303Ter)	APC (G2020* +12 more)	Single nucleotide variant (nonsense)	Colorectal cancer	GPathogenic
Select item 995862	NM_002317.7(LOX):c.1021A>C (p.Thr341Pro)	LOX, SRFBP1 (T111P +2 more)	Single nucleotide variant (missense variant)	Generalized arterial tortuosity +1 more	GLikely pathogenic
Select item 1700598	NM_001903.5(CTNNA1):c.163T>C (p.Ser55Pro)	CTNNA1 (S55P)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer	GUncertain significance
Select item 1700651	NM_001903.5(CTNNA1):c.235del (p.Ile79fs)	CTNNA1 (I79fs)	Deletion (frameshift variant +1 more)	Polyposis syndrome, hereditary mixed, 1	GLikely pathogenic
Select item 1700592	NM_001903.5(CTNNA1):c.297del (p.Lys99fs)	CTNNA1 (K99fs)	Deletion (frameshift variant +1 more)	Colorectal cancer	GPathogenic
Select item 645011	NM_001903.5(CTNNA1):c.339T>A (p.Asp113Glu)	CTNNA1 (D113E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1700593	NM_001903.5(CTNNA1):c.1045del (p.Ser349fs)	CTNNA1 (S226fs +2 more)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 1700590	NM_001903.5(CTNNA1):c.1229A>G (p.Asn410Ser)	CTNNA1 (N287S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1700652	NM_001903.5(CTNNA1):c.1392del (p.Ile465fs)	CTNNA1 (I14fs +6 more)	Deletion (frameshift variant +1 more)	Polyposis syndrome, hereditary mixed, 1	GUncertain significance
Select item 1042674	NM_001903.5(CTNNA1):c.1479del (p.Lys493fs)	CTNNA1 (K10fs +7 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 998134	NM_001903.5(CTNNA1):c.1526_1527insC (p.Asp509_Asp510insTer)	CTNNA1	Insertion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 1700653	NM_001903.5(CTNNA1):c.1559del (p.Leu520fs)	CTNNA1 (L119fs +7 more)	Deletion (frameshift variant)	Polyposis syndrome, hereditary mixed, 1	GLikely pathogenic
Select item 1700595	NM_001903.5(CTNNA1):c.1597A>G (p.Lys533Glu)	CTNNA1 (K132E +7 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1700594	NM_001903.5(CTNNA1):c.1645del (p.Ala549fs)	CTNNA1 (A148fs +7 more)	Deletion (frameshift variant)	Colorectal cancer	GUncertain significance
Select item 1700654	NM_001903.5(CTNNA1):c.1715T>C (p.Val572Ala)	CTNNA1 (V121A +7 more)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 1	GUncertain significance
Select item 1700596	NM_001903.5(CTNNA1):c.1944del (p.Phe648fs)	CTNNA1 (F165fs +7 more)	Deletion (frameshift variant)	Colorectal cancer	GUncertain significance
Select item 1700591	NM_001903.5(CTNNA1):c.2043del (p.Ala682fs)	CTNNA1 (A199fs +7 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1700597	NM_001903.5(CTNNA1):c.2047A>G (p.Lys683Glu)	CTNNA1 (K200E +7 more)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 1700589	NM_001903.5(CTNNA1):c.2213del (p.Asn738fs)	CTNNA1 (N255fs +7 more)	Deletion (frameshift variant)	Colorectal cancer	GLikely pathogenic
Select item 1700650	NM_001903.5(CTNNA1):c.2470A>G (p.Asn824Asp)	CTNNA1 (N341D +9 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Colorectal cancer	GUncertain significance
Select item 1700648	NM_001903.5(CTNNA1):c.2600del (p.Lys867fs)	CTNNA1 (K384fs +9 more)	Deletion (3 prime UTR variant +1 more)	Colorectal cancer	GPathogenic
Select item 1700655	NM_001903.5(CTNNA1):c.2665A>G (p.Lys889Glu)	CTNNA1 (K406E +9 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Polyposis syndrome, hereditary mixed, 1	GUncertain significance
Select item 998159	NM_001382548.1(TCERG1):c.192del (p.Pro65fs)	TCERG1 (P65fs)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic

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