clinvar - Robuta Search

https://www.ncbi.nlm.nih.gov/clinvar/RCV003582511/ NM_000098.3(CPT2):c.1362AG (p.Glu454=) AND Carnitine palmitoyltransferase II deficiency - ClinVar... ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV002218456/ NM_201596.3(CACNB2):c.214-18GA AND Brugada syndrome 4 - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/30886/ VCV000030886.4 - ClinVar - NCBI 4 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV002466760/ NM_001079668.3(NKX2-1):c.626GC (p.Arg209Pro) AND Brain-lung-thyroid syndrome - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/1998393/ VCV001998393.4 - ClinVar - NCBI 4 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/variation/879291/ VCV000879291.5 - ClinVar - NCBI 5 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV002298862/ NM_198904.4(GABRG2):c.893AC (p.Lys298Thr) AND not provided - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV000422097.1/ NM_000546.6(TP53):c.818GA (p.Arg273His) AND Squamous cell carcinoma of the head and neck - ClinVar... ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV002287473/ NM_000352.6(ABCC8):c.933GC (p.Leu311=) AND Maturity-onset diabetes of the young - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV003315186/ NM_000088.4(COL1A1):c.2858GT (p.Gly953Val) AND Osteogenesis imperfecta type III - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/1696032/ VCV001696032.4 - ClinVar - NCBI 4 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/variation/504191/ VCV000504191.11 - ClinVar - NCBI 11 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/variation/237852/ VCV000237852.15 - ClinVar - NCBI 15 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/variation/205363/ VCV000205363.9 - ClinVar - NCBI 9 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV001002532/ NM_000530.8(MPZ):c.418TA (p.Ser140Thr) AND not specified - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV000607441/ NM_001123385.2(BCOR):c.1260TC (p.Asp420=) AND Oculofaciocardiodental syndrome - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/submitters/505999/ Undiagnosed Diseases Network - Submitter - ClinVar ClinVar archives and aggregates information about relationships among variation and human health. undiagnosed diseases network submitter clinvar https://www.ncbi.nlm.nih.gov/clinvar/RCV002530904/ NM_000414.4(HSD17B4):c.1516CT (p.Arg506Cys) AND Inborn genetic diseases - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/983715/ VCV000983715.3 - ClinVar - NCBI 3 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV002971906/ NM_000295.5(SERPINA1):c.856CT (p.His286Tyr) AND Alpha-1-antitrypsin deficiency - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/700718/ VCV000700718.10 - ClinVar - NCBI 10 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV000254693.4/ NM_000546.5(TP53):c.818GA (p.Arg273His) AND not provided - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/submitters/506974/ Biochemistry Laboratory of CDMU - Submitter - ClinVar ClinVar archives and aggregates information about relationships among variation and human health. biochemistry laboratory submitter clinvar https://www.ncbi.nlm.nih.gov/clinvar/variation/1997202/ VCV001997202.4 - ClinVar - NCBI 4 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/variation/1497202/ VCV001497202.29 - ClinVar - NCBI 29 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV003445665/ NM_006516.4(SLC2A1):c.1396GA (p.Gly466Ser) AND Dystonia 9 - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV000212194.5/ NM_007294.4(BRCA1):c.5123CT (p.Ala1708Val) AND not specified - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV001194272/ NM_000051.4(ATM):c.5063TC (p.Ile1688Thr) AND not specified - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV003927731/ NM_000026.4(ADSL):c.616GT (p.Ala206Ser) AND ADSL-related disorder - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV000643636/ NM_001267550.2(TTN):c.93182GA (p.Arg31061His) AND multiple conditions - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/3581599/ VCV003581599.2 - ClinVar - NCBI 2 clinvar ncbi https://hl7.org/fhir/2018Sep/valueset-clinvar.html Valueset-clinvar - FHIR v3.5.0 valueset clinvar fhir v3 5 https://www.ncbi.nlm.nih.gov/clinvar/RCV005040108/ NM_000492.4(CFTR):c.1540GT (p.Glu514Ter) AND multiple conditions - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV000791388/ NM_000527.5(LDLR):c.907CT (p.Arg303Trp) AND Familial hypercholesterolemia - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV001131318/ NM_203486.3(DLL3):c.1101CT (p.Leu367=) AND Syndactyly - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV000261571/ NM_206933.4(USH2A):c.849-4AG AND Usher syndrome type 2A - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. usher syndrome type 2a https://www.ncbi.nlm.nih.gov/clinvar/RCV005051631/ NM_152419.3(HGSNAT):c.65del (p.Leu22fs) AND multiple conditions - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/4279838/?term=PKP2%3Ac.1101dup VCV004279838.1 - ClinVar - NCBI 1 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/submitters/320494/ Counsyl - Submitter - ClinVar ClinVar archives and aggregates information about relationships among variation and human health. counsyl submitter clinvar https://www.ncbi.nlm.nih.gov/clinvar/RCV000314246/ NM_139057.4(ADAMTS17):c.1062GA (p.Pro354=) AND Weill-Marchesani 4 syndrome, recessive - ClinVar -... ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/docs/review_status/ Review status in ClinVar ClinVar archives and aggregates information about relationships among variation and human health. review status clinvar https://www.ncbi.nlm.nih.gov/clinvar/variation/1488083/ VCV001488083.13 - ClinVar - NCBI 13 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV002554929/ NM_000186.4(CFH):c.2424AG (p.Ile808Met) AND not provided - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV000857102/ NM_014874.4(MFN2):c.1085CT (p.Thr362Met) AND Charcot-Marie-Tooth disease - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV005025397/ NM_017777.4(MKS1):c.1491-2AG AND multiple conditions - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV000440815.1/ NM_000546.6(TP53):c.818GA (p.Arg273His) AND Acute myeloid leukemia - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV001085755/ NM_014336.5(AIPL1):c.765TC (p.Asp255=) AND Leber congenital amaurosis 4 - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV003416097/ NM_001256317.3(TMPRSS3):c.326GA (p.Arg109Gln) AND TMPRSS3-related disorder - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV001293419/ NM_000492.4(CFTR):c.3274TC (p.Tyr1092His) AND not specified - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/1234513/ VCV001234513.5 - ClinVar - NCBI 5 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/variation/619261/ VCV000619261.2 - ClinVar - NCBI 2 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/variation/989621/ VCV000989621.5 - ClinVar - NCBI 5 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV004010924/ NM_000540.3(RYR1):c.985GA (p.Asp329Asn) AND Malignant hyperthermia, susceptibility to, 1 - ClinVar... ClinVar archives and aggregates information about relationships among variation and human health. https://www.news-medical.net/news/20161101/Illumina-donates-more-than-95000-human-genetic-variants-to-ClinVar-database.aspx Illumina donates more than 95,000 human genetic variants to ClinVar database Jun 19, 2019 - Illumina, Inc. announced that it has contributed over 95,000 human genetic variants to ClinVar, a public database hosted by the National Center for... more than 95 000 https://www.ncbi.nlm.nih.gov/clinvar/RCV003060381/ NM_147127.5(EVC2):c.3395CT (p.Ala1132Val) AND multiple conditions - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/1330720/ VCV001330720.7 - ClinVar - NCBI 7 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV000440474.1/ NM_000546.6(TP53):c.818GA (p.Arg273His) AND Medulloblastoma - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV000657894/ NM_000527.5(LDLR):c.907CT (p.Arg303Trp) AND not provided - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV001722631/ NM_005219.5(DIAPH1):c.3149-3del AND not provided - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/submitters/505504/ GeneKor MSA - Submitter - ClinVar ClinVar archives and aggregates information about relationships among variation and human health. msa submitter clinvar https://www.ncbi.nlm.nih.gov/clinvar/RCV000709646/ NM_152618.3(BBS12):c.116TC (p.Ile39Thr) AND Bardet-Biedl syndrome 1 - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/526653/ VCV000526653.9 - ClinVar - NCBI 9 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV002663011/ NM_000383.4(AIRE):c.108CG (p.Asp36Glu) AND Polyglandular autoimmune syndrome, type 1 - ClinVar -... ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/811484/ VCV000811484.8 - ClinVar - NCBI 8 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/variation/206996/ VCV000206996.9 - ClinVar - NCBI 9 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/variation/518335/ VCV000518335.2 - ClinVar - NCBI 2 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/variation/860867/ VCV000860867.12 - ClinVar - NCBI 12 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/variation/926746/?term=MYH7%3Ac.3200T%3EC VCV000926746.14 - ClinVar - NCBI 14 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/submitters/505231/ UCLA Clinical Genomics Center - Submitter - ClinVar ClinVar archives and aggregates information about relationships among variation and human health. clinical genomics ucla center submitter clinvar https://www.ncbi.nlm.nih.gov/clinvar/variation/127819/ VCV000127819.104 - ClinVar - NCBI 104 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV002513376/ NM_000307.5(POU3F4):c.341GA (p.Trp114Ter) AND not provided - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV000419960.1/ NM_000546.6(TP53):c.818GA (p.Arg273His) AND Gastric adenocarcinoma - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/1290564/ VCV001290564.4 - ClinVar - NCBI 4 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/submitters/506778/ Department of Medical Genetics - Submitter - ClinVar ClinVar archives and aggregates information about relationships among variation and human health. department of medical genetics submitter clinvar https://www.ncbi.nlm.nih.gov/clinvar/RCV001080843/ NM_152618.3(BBS12):c.116TC (p.Ile39Thr) AND Bardet-Biedl syndrome - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://pmc.ncbi.nlm.nih.gov/articles/PMC6943040/ ClinVar: improvements to accessing data - PMC ClinVar is a freely available, public archive of human genetic variants and interpretations of their relationships to diseases and other conditions, maintained... accessing data clinvar improvements pmc https://www.ncbi.nlm.nih.gov/clinvar/variation/1147168/ VCV001147168.9 - ClinVar - NCBI 9 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV004023444/ NM_000384.3(APOB):c.10700CT (p.Thr3567Met) AND Cardiovascular phenotype - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/submitters/505827/ Bioscientia Institut fuer Medizinische Diagnostik GmbH - Submitter - ClinVar ClinVar archives and aggregates information about relationships among variation and human health. institut fuer medizinische diagnostik gmbh https://www.ncbi.nlm.nih.gov/clinvar/RCV000122051/ NM_014159.7(SETD2):c.4193TC (p.Ile1398Thr) AND not specified - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/983132/ VCV000983132.3 - ClinVar - NCBI 3 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar?term=rs59417818%5BVariant%20ID%5D No items found - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. no items found clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV002483855/ NM_001267550.2(TTN):c.3235CA (p.Pro1079Thr) AND multiple conditions - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/docs/details/ The ClinVar RCV page ClinVar archives and aggregates information about relationships among variation and human health. clinvar rcv https://www.ncbi.nlm.nih.gov/clinvar/RCV000031221.6/ NM_007294.4(BRCA1):c.5123CT (p.Ala1708Val) AND Breast-ovarian cancer, familial 1 - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV000507221.1/ NM_000546.6(TP53):c.818GA (p.Arg273His) AND not specified - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV003448355/ NM_001001344.3(ATP2B3):c.2105GA (p.Arg702His) AND X-linked progressive cerebellar ataxia - ClinVar... ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/640804/ VCV000640804.10 - ClinVar - NCBI 10 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV000658373/ NM_022114.4(PRDM16):c.3352GA (p.Val1118Met) AND not provided - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/984347/ VCV000984347.8 - ClinVar - NCBI 8 clinvar ncbi https://www.ncbi.nlm.nih.gov/clinvar/RCV005028735/ NM_000064.4(C3):c.1598CT (p.Ala533Val) AND multiple conditions - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV002820267/ NM_003896.4(ST3GAL5):c.478CT (p.Pro160Ser) AND GM3 synthase deficiency - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV005250102/ NM_001378452.1(ITPR1):c.4333GA (p.Val1445Met) AND ITPR1-related disorders - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV004813048/ NM_000769.1(CYP2C19):c.-806CT AND Clopidogrel response - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. nm 1 c https://www.ncbi.nlm.nih.gov/clinvar/RCV002493076/ NM_004168.4(SDHA):c.841AG (p.Thr281Ala) AND multiple conditions - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV003768292/ NM_020366.4(RPGRIP1):c.673del (p.His225fs) AND multiple conditions - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/docs/datasources/ Sources of data in ClinVar ClinVar archives and aggregates information about relationships among variation and human health. sources data clinvar https://www.ncbi.nlm.nih.gov/clinvar/RCV000356959/ NM_001130987.2(DYSF):c.2477GA (p.Arg826Gln) AND not provided - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/RCV001106654/ NM_001368894.2(PAX6):c.511GA (p.Gly171Ser) AND Foveal hypoplasia 1 - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. https://www.ncbi.nlm.nih.gov/clinvar/variation/294490/ VCV000294490.51 - ClinVar - NCBI 51 clinvar ncbi