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133 Possible Causes for 1 BP, 358G, CLDN1,, DEL

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  • Schneckenbecken Dysplasia

    SLC35D1, 1-BP DEL, 125A AND Schneckenbecken dysplasia Significance: Pathogenic ClinVar: RCV000001182 Variant: SLC35D1, 1-BP DEL, 125A Type: Variant Allele: SLC35D1, 1-BP DEL[gepedia.com] Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 CLCN7 16p13.3 Osteopetrosis, autosomal dominant 2 166600 Osteopetrosis, autosomal recessive 4 611490 CLDN1[institutobernabeu.com] […] cuello Cuidado y lesión del brazo Cuidado y lesión del codo Análisis de un caso: Stuart y Gloria han tenido cuatro niños saludables, cinco enanos mortinatos, y tres abortos[schneckenbeckendysplasiasickness.blogspot.com] […] hypoplastic vertebral bodies, metaphyseal cupping, squared iliac bones, horizontal acetabular roofs, hypoplastic ischia and pubis. read more Next Generation Sequencing NGS/Del[ctgt.net]

    Missing: 358G
  • Ichthyosis

    FGFR3 Del Dup NGS Camurati-Engelmann disease TGFB1 Del Dup NGS Cantu syndrome ABCC9 Del Dup NGS Cantu syndrome NGS panel ABCC9, KCNJ8 Del Dup NGS Cantu syndrome, KCNJ8 related[ctgt.net] 17,608) 99.99% 11-50 bps 99.07% (957/966) 99.99% Copy number variants (exon level dels/dups) Clinical samples (small CNVs, n 52) 1 exon level deletion 92.3% (24/26) NA 2[blueprintgenetics.com] The known pathogenic molecules involved in ichthyosis syndromes with prominent hair abnormalities include SPINK5, ERCC2, ERCC3, GTF2H5, MPLKIP, ST14, CLDN1 and MBTPS2.[ncbi.nlm.nih.gov] […] of Salamanca, Salamanca, Spain. 2 Department of Dermatology, Hospital Regional Honorio Delgado, Arequipa, Peru. 3 Department of Dermatology, Instituto Nacional de Salud del[ncbi.nlm.nih.gov]

    Missing: 358G
  • Lamellar Ichthyosis Type 2

    DEL METABOLISMO E DEL TRASPORTO DELLO ZINCO (RCG102) DIFETTI CONGENITI DEL METABOLISMO DEL RAME (RCG102) MENKES, SINDROME DI (RCG103) ALTRI DIFETTI CONGENITI DEL METABOLISMO[malattierare.toscana.it] The mutation was predicted to result in a glu1539-to-lys (E1539K) substitution in the nucleotide-binding fold (NBF1) domain. .0006 HARLEQUIN ICHTHYOSIS ABCA12, 1-BP DEL, 7541C[genome.jp] Tests Available Congenital Ichthyosis XomeDxSlice Forms and Documents Test Details Genes: ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CDSN, CERS3, CHST8, CLDN1[genedx.com] 17,608) 99.99% 11-50 bps 99.07% (957/966) 99.99% Copy number variants (exon level dels/dups) Clinical samples (small CNVs, n 52) 1 exon level deletion 92.3% (24/26) NA 2[blueprintgenetics.com]

    Missing: 358G
  • Congenital Ichthyosiform Erythroderma

    Uruguay : Colonia del Sacramento, La Barra, La Paloma, Maldonado, Montevideo, Piriápolis, Punta del Este, Salto, etc.[maria-online.com] Chipev CC1, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG, Steinert PM.[medresearch.in] Tests Available Congenital Ichthyosis XomeDxSlice Forms and Documents Test Details Genes: ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CDSN, CERS3, CHST8, CLDN1[genedx.com] Panama : Bocas del Toro, etc. Papua New Guinea : Port Moresby, etc. Paraguay : Asunción, Ciudad Del Este, Encarnación, Panama City, etc.[maria-online.com]

    Missing: 358G
  • Lamellar Ichthyosis

    METABOLISMO E DEL TRASPORTO DEI CARBOIDRATI Escluso: Diabete mellito SINONIMO RCG070 ALTERAZIONI CONGENITE DEL METABOLISMO DELLE LIPOPROTEINE.[docvadis.it] 17,608) 99.99% 11-50 bps 99.07% (957/966) 99.99% Copy number variants (exon level dels/dups) Clinical samples (small CNVs, n 52) 1 exon level deletion 92.3% (24/26) NA 2[blueprintgenetics.com] Tests Available Congenital Ichthyosis XomeDxSlice Forms and Documents Test Details Genes: ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CDSN, CERS3, CHST8, CLDN1[genedx.com] This mutation leads to a frameshift resulting in a premature termination codon 43 bp downstream from the mutation site.[ncbi.nlm.nih.gov]

    Missing: 358G
  • Refsum Disease

    Analysis methods PLUS SEQ DEL/DUP Test code ME0401 Panel size Small CPT codes SEQ 81405 DEL/DUP 81479 SEQ 81479 Summary The Blueprint Genetics Peroxisomal Disorders Panel[blueprintgenetics.com] Mutation analysis of PHYH cDNA from 22 patients with RD revealed 14 different missense mutations, a 3 bp insertion, and a 1 bp deletion, which were all confirmed at the genome[thedoctorsdoctor.com] Forms and Documents Test Details Genes: ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CDSN, CERS3, CHST8, CLDN1, CSTA, CYP4F22, EBP, ELOVL4, FLG, FLG2, GJB2[genedx.com] […] ciclo de la urea clinical heterogeneityheterogeneidad clínica collagen disordertrastorno del colágeno collagen disorderEnfermedad del colageno colour blindnessdaltonismo[lexigene.com]

    Missing: 358G
  • Troglitazone

    Troglitazona se usa en el tratamiento de la diabetes tipo II (no insulino-dependiente diabetes mellitus (DMNID), también conocida como diabetes del adulto).[pharmacycode.com] Author information 1 Université de Lorraine, SRSMC, UMR 7565, BP 70239, F-54506 Vandœuvre-lès-Nancy, France; CNRS, SRSMC, UMR 7565, BP 70239, F-54506 Vandœuvre-lès-Nancy,[ncbi.nlm.nih.gov] […] non-tumorigenic human breast epithelial cell line MCF-10A are treated with 20 μM of TGZ, RGZ, D2-TGZ, or DMSO (Ctrl) for 24 h and subjected to western blot analysis with claudin-1 (CLDN1[medchemexpress.com] Del Poeta G, Venditti A, Del Principe MI, Maurillo L, Buccisano F, Tamburini A, Cox MC, Franchi A, Bruno A, Mazzone C, Panetta P, Suppo G, Masi M, Amadori S: Amount of spontaneous[karger.com]

    Missing: 358G
  • Congenital Ichthyosis

    Author information 1 Genetics Unit, GENIUROS Group, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia. 2 Department of Dermatology, Universidad[ncbi.nlm.nih.gov] 17,608) 99.99% 11-50 bps 99.07% (957/966) 99.99% Copy number variants (exon level dels/dups) Clinical samples (small CNVs, n 52) 1 exon level deletion 92.3% (24/26) NA 2[blueprintgenetics.com] Forms and Documents Test Details Genes: ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CDSN, CERS3, CHST8, CLDN1, CSTA, CYP4F22, EBP, ELOVL4, FLG, FLG2, GJB2[genedx.com] The targeted NGS sequencing panel contained 38 genes ( ABCA12 , ABHD5 , AGPS , ALDH3A2 , ALOX12B , ALOXE3 , AP1S1 , ARSE , CERS3 , CLDN1 , CYP4F22 , EBP , ELOVL4 , GJB2 ,[nature.com]

    Missing: 358G
  • X-Linked Ichthyosis

    Test Code F STS* Test Synonyms del(X)(p22.32), X-linked ichthyosis Associations STS/CEP X Methodology Fluorescence in situ Hybridization (FISH) *performed by affiliate laboratory[mplnet.com] Case report Patients 1 and 2 were male monozygotic twins who were born at term in 1987 after an uneventful pregnancy and caesarian section at term in 1987.[jmg.bmj.com] Forms and Documents Test Details Genes: ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CDSN, CERS3, CHST8, CLDN1, CSTA, CYP4F22, EBP, ELOVL4, FLG, FLG2, GJB2[genedx.com] DEL METABOLISMO E DEL TRASPORTO DELLO ZINCO (RCG102) DIFETTI CONGENITI DEL METABOLISMO DEL RAME (RCG102) MENKES, SINDROME DI (RCG103) ALTRI DIFETTI CONGENITI DEL METABOLISMO[malattierare.toscana.it]

    Missing: 358G
  • Familial Cerebral Cavernous Malformation

    Analysis methods PLUS SEQ DEL/DUP Test code MA1001 Panel size Small CPT codes DEL/DUP 81479 SEQ 81479 Summary The Blueprint Genetics Cerebral Cavernous Malformation Panel[blueprintgenetics.com] The high MAF of c.358G A (rs11552377) in general population suggested it as a benign polymorphism, rather a disease-causing mutation.[journal.frontiersin.org] AS, Walcott BP, Kahle KT, Mordes DA, William CM, Ghogawala Z, Ogilvy CS.[tncjournal.com] […] metabolismo del surfattante (ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD)Pan172Malattie mitocondriali, geni del DNA nucleare (AARS, AARS2, AASS, ABAT, ABCB7, ACACA[bredagenetics.com]

    Missing: CLDN1