(-)-(S)-Cibenzoline-D4 - ClinVar - NCBI

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The following term was not found in ClinVar: Cibenzoline.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2413543	NM_170707.4(LMNA):c.674G>C (p.Arg225Pro)	LMNA (D4H +5 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 2733996	NM_170707.4(LMNA):c.676C>G (p.Leu226Val)	LMNA (D4E +5 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2458734	NM_012184.5(FOXD4L1):c.22C>A (p.Arg8Ser)	FOXD4L1 (R8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096326	NM_012184.5(FOXD4L1):c.282G>T (p.Arg94Ser)	FOXD4L1 (R94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261158	NM_012184.5(FOXD4L1):c.730C>T (p.Pro244Ser)	FOXD4L1 (P244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215993	NM_012184.5(FOXD4L1):c.772C>T (p.Pro258Ser)	FOXD4L1 (P258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279537	NM_012184.5(FOXD4L1):c.778G>T (p.Ala260Ser)	FOXD4L1 (A260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394679	NM_012184.5(FOXD4L1):c.881C>G (p.Thr294Ser)	FOXD4L1 (T294S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 68556	NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met)	LOC102724058, SCN1A (V1619M +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 3284700	NM_014621.3(HOXD4):c.709C>T (p.Pro237Ser)	HOXD3, HOXD4 (P237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 9377	NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	SCN5A (E1784K +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +7 more	GPathogenic/Likely pathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 911766	NM_000162.5(GCK):c.10G>A (p.Asp4Asn)	GCK (D4N)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 570759	NM_001308093.3(GATA4):c.631G>A (p.Asp211Asn)	GATA4 (D210N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 3279532	NM_207305.5(FOXD4):c.1234G>T (p.Ala412Ser)	FOXD4 (A412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408033	NM_207305.5(FOXD4):c.1168T>A (p.Ser390Thr)	FOXD4 (S390T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380064	NM_207305.5(FOXD4):c.1156G>A (p.Gly386Ser)	FOXD4 (G386S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096313	NM_207305.5(FOXD4):c.1147G>T (p.Ala383Ser)	FOXD4 (A383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279529	NM_207305.5(FOXD4):c.1057A>T (p.Ser353Cys)	FOXD4 (S353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272154	NM_207305.5(FOXD4):c.1024C>T (p.Pro342Ser)	FOXD4 (P342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477975	NM_207305.5(FOXD4):c.988T>G (p.Ser330Ala)	FOXD4 (S330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495935	NM_207305.5(FOXD4):c.814C>T (p.Pro272Ser)	FOXD4 (P272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279530	NM_207305.5(FOXD4):c.640C>T (p.Pro214Ser)	FOXD4 (P214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276578	NM_207305.5(FOXD4):c.496C>T (p.Pro166Ser)	FOXD4 (P166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279533	NM_207305.5(FOXD4):c.464A>G (p.Asn155Ser)	FOXD4 (N155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598841	NM_207305.5(FOXD4):c.384C>A (p.Ser128Arg)	FOXD4 (S128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279535	NM_207305.5(FOXD4):c.383G>A (p.Ser128Asn)	FOXD4 (S128N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 2613156	NM_001085476.4(FOXD4L6):c.1166G>A (p.Ser389Asn)	FOXD4L6 (S389N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558237	NM_001085476.4(FOXD4L6):c.1160G>C (p.Ser387Thr)	FOXD4L6 (S387T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279557	NM_001085476.4(FOXD4L6):c.936G>T (p.Arg312Ser)	FOXD4L6 (R312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096363	NM_001085476.4(FOXD4L6):c.664C>T (p.Pro222Ser)	FOXD4L6 (P222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468405	NM_001085476.4(FOXD4L6):c.549C>G (p.Ser183Arg)	FOXD4L6 (S183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096346	NM_001126334.1(FOXD4L5):c.1169T>G (p.Ile390Ser)	FOXD4L5 (I390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096345	NM_001126334.1(FOXD4L5):c.1167C>G (p.Ser389Arg)	FOXD4L5 (S389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096344	NM_001126334.1(FOXD4L5):c.1166G>T (p.Ser389Ile)	FOXD4L5 (S389I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394310	NM_001126334.1(FOXD4L5):c.1112G>C (p.Cys371Ser)	FOXD4L5 (C371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222094	NM_001126334.1(FOXD4L5):c.526C>T (p.Pro176Ser)	FOXD4L5 (P176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281508	NM_001126334.1(FOXD4L5):c.469C>A (p.Arg157Ser)	FOXD4L5 (R157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544385	NM_001126334.1(FOXD4L5):c.335C>T (p.Ser112Leu)	FOXD4L5 (S112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218733	NM_001126334.1(FOXD4L5):c.298T>C (p.Ser100Pro)	FOXD4L5 (S100P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312979	NM_001126334.1(FOXD4L5):c.32C>T (p.Ser11Phe)	FOXD4L5 (S11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279543	NM_199135.4(FOXD4L3):c.287C>T (p.Ser96Phe)	FOXD4L3 (S96F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300250	NM_199135.4(FOXD4L3):c.694C>A (p.Arg232Ser)	FOXD4L3 (R232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096337	NM_199135.4(FOXD4L3):c.775C>T (p.Pro259Ser)	FOXD4L3 (P259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611079	NM_199135.4(FOXD4L3):c.1159A>G (p.Ser387Gly)	FOXD4L3 (S387G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279541	NM_199135.4(FOXD4L3):c.1161C>A (p.Ser387Arg)	FOXD4L3 (S387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic

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