carboxyl OR 5234-68-4[All Fields] - ClinVar - NCBI

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The following term was not found in ClinVar: 5234-68-4[All Fields].
Showing results for Carboxin OR 5234-68-4 [rn]. Your search for Carboxin OR 5234-68-4 [rn] retrieved no results.

	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 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 2525355	NM_012405.4(ICMT):c.829A>G (p.Ile277Val)	ICMT (I277V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391550	NM_012405.4(ICMT):c.725G>A (p.Arg242Gln)	ICMT (R242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775494	NM_012405.4(ICMT):c.564G>A (p.Val188=)	ICMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2545407	NM_012405.4(ICMT):c.527C>T (p.Ala176Val)	ICMT (A176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314610	NM_012405.4(ICMT):c.443T>C (p.Ile148Thr)	ICMT (I148T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184370	NC_000001.11:g.6234122_6508845dup	ACOT7, ESPN +35 more	Duplication	not provided	GUncertain significance
Select item 3107980	NM_012405.4(ICMT):c.106G>A (p.Ala36Thr)	ICMT (A36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614679	NM_012405.4(ICMT):c.55G>T (p.Ala19Ser)	ICMT (A19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235868	NM_012405.4(ICMT):c.26C>T (p.Pro9Leu)	ICMT (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107981	NM_012405.4(ICMT):c.5C>A (p.Ala2Glu)	ICMT, LOC129929225 (A2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302249	NM_012405.4(ICMT):c.4G>T (p.Ala2Ser)	ICMT, LOC129929225 (A2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 11947	NM_001918.5(DBT):c.1448G>T (p.Ter483Leu)	DBT	Single nucleotide variant (stop lost)	Maple syrup urine disease type 2	GPathogenic
Select item 11946	NM_001918.5(DBT):c.1018-550A>G	DBT	Single nucleotide variant (intron variant)	DBT-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 192253	NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)	KCND3 (L450F)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 14517	NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)	LMNA (S573L +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 13122	NM_000537.4(REN):c.1159C>T (p.Arg387Ter)	REN (R387*)	Single nucleotide variant (nonsense)	Hyperproreninemia, familial	GPathogenic
Select item 2587823	NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala)	LOC126806068, RYR2 (G4140A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3063343	GRCh37/hg19 1p36.32-36.23(chr1:4536962-7934520)x1	ACOT7, AJAP1 +23 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	ACOT7, ACTRT2 +40 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1808536	GRCh37/hg19 1p36.31(chr1:5505039-7027995)x1	ACOT7, CAMTA1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703625	GRCh37/hg19 1p36.31-36.23(chr1:6250285-7943864)	ICMT, KLHL21 +19 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	DNAJC11, DVL1 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	PUSL1, RER1 +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 814045	GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 638116	GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	ACAP3, ACOT7 +100 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 565059	GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 443883	GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	ACAP3, ACOT7 +106 more	Copy number loss	See cases	GPathogenic
Select item 443478	GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	ACAP3, ACOT7 +98 more	Copy number loss	See cases	GPathogenic
Select item 442919	GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1	ACAP3, ACOT7 +88 more	Copy number loss	See cases	GPathogenic
Select item 442741	GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1	ACOT7, ACTRT2 +34 more	Copy number loss	See cases	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 441627	GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1	ACAP3, ACOT7 +86 more	Copy number loss	See cases	GPathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 393825	GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3	ACTRT2, AJAP1 +35 more	Copy number gain	See cases	GBenign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 17890	NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	APOB (R3527Q)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +9 more	GPathogenic/Likely pathogenic
Select item 12868	NM_005633.4(SOS1):c.3248dup (p.Arg1084fs)	SOS1 (R1084fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 161218	NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)	COL3A1 (K1313R)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 255	Multiple alleles	XPC	Microsatellite (inframe_insertion +1 more)	Xeroderma pigmentosum, group C	GPathogenic
Select item 12571	NM_001354712.2(THRB):c.1305dup (p.Ala436fs)	THRB (A436fs +2 more)	Duplication (frameshift variant)	Selective pituitary resistance to thyroid hormone	GPathogenic
Select item 472656	NC_000003.12:g.(?_52404447)_(52408612_?)del	BAP1	Deletion	BAP1-related tumor predisposition syndrome	GLikely pathogenic
Select item 2429331	NM_004656.4(BAP1):c.687C>A (p.Asn229Lys)	BAP1 (N229K)	Single nucleotide variant (missense variant)	Kury-Isidor syndrome	GLikely pathogenic
Select item 380595	NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)	PCCB (C291Y +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 12016	NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)	PCCB (T428I +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic
Select item 4867	NM_023067.4(FOXL2):c.959dup (p.Gln321fs)	FOXL2 (Q321fs)	Duplication (frameshift variant)	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	GPathogenic
Select item 960079	NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg)	IDUA	Single nucleotide variant (stop lost +1 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 11920	NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)	IDUA	Single nucleotide variant (stop lost +1 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 2637556	NM_004181.5(UCHL1):c.341T>A (p.Leu114Gln)	UCHL1 (L114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 18226	NM_000477.7(ALB):c.79C>T (p.His27Tyr)	ALB (H27Y)	Single nucleotide variant (missense variant)	ALBUMIN LARINO	Gother
Select item 16416	FIBRINOGEN NIEUWEGEIN	FGA	Duplication (frameshift variant)	FIBRINOGEN NIEUWEGEIN	Gother
Select item 932178	NM_001744.6(CAMK4):c.940C>T (p.Gln314Ter)	CAMK4 (Q117* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 183078	NM_000038.6(APC):c.3149del (p.Ala1050fs)	APC (A1009fs +12 more)	Deletion (frameshift variant)	Familial multiple polyposis syndrome +8 more	GPathogenic
Select item 17466	NM_000493.4(COL10A1):c.1841T>C (p.Leu614Pro)	COL10A1, NT5DC1 (L614P)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GPathogenic
Select item 17465	NM_000493.4(COL10A1):c.1792T>G (p.Tyr598Asp)	COL10A1, NT5DC1 (Y598D)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 623485	NM_014462.3(LSM1):c.231+4A>C	LSM1	Single nucleotide variant (intron variant)	Complex neurodevelopmental disorder +19 more	GUncertain significance
Select item 137614	NM_004318.4(ASPH):c.1852_1856delinsGGG (p.Asn618fs)	ASPH (N589fs +1 more)	Indel (frameshift variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	GPathogenic
Select item 56409	NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter)	RECQL4 (Q1091*)	Single nucleotide variant (nonsense)	Rapadilino syndrome	GPathogenic/Likely pathogenic
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	FAM95B1, FAM95C +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic

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