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25 records found for search term Cenpj
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
126736105CV1021154deletionNM_018451.5(CENPJ):c.3268del (p.Glu1090fs)Seckel syndrome 4 [RCV001335003]pathogenic132488934924889349Humanname
150536844CV1314324deletionNM_018451.5(CENPJ):c.2325_2326del (p.His775fs)not provided [RCV001780750]likely pathogenic132490571224905713Humanname
150536846CV1314325duplicationNM_018451.5(CENPJ):c.3762_3765dup (p.Phe1256fs)not provided [RCV001780751]likely pathogenic132488402124884022Humanname
9682121CV169015single nucleotide variantNM_018451.5(CPAP):c.3920C>T (p.Thr1307Ile)CENPJ-related disorder [RCV004532642]|Inborn genetic diseases [RCV004019766]|Microcephaly 6, primary, autosomal recessive [RCV000145580]|Microcephaly 6, primary, autosomal recessive [RCV000765126]|Seckel syndrome 4 [RCV001110754]|not provided [RCV000513419]likely benign|conflicting interpretations of pathogenicity|uncertain significance132488327424883274Human3trait , alternate_id
9682098CV169034single nucleotide variantNM_018451.5(CPAP):c.1233G>A (p.Pro411=)CENPJ-related disorder [RCV004532641]|Microcephaly 6, primary, autosomal recessive [RCV000297118]|Seckel syndrome 4 [RCV000262974]|not provided [RCV000827176]|not specified [RCV000145552]benign|likely benign|uncertain significance132490680524906805Human2trait , alternate_id
9682113CV169040single nucleotide variantNM_018451.5(CPAP):c.287A>G (p.His96Arg)CENPJ-related disorder [RCV004544334]|Microcephaly 6, primary, autosomal recessive [RCV000285892]|Seckel syndrome 4 [RCV000380274]|not provided [RCV000428611]|not specified [RCV000145572]benign|likely benign132491273924912739Human2trait , alternate_id
9682103CV169043single nucleotide variantNM_018451.5(CPAP):c.175A>G (p.Thr59Ala)CENPJ-related disorder [RCV004544333]|Microcephaly 6, primary, autosomal recessive [RCV000145559]|not provided [RCV000884871]|not specified [RCV000300812]benign|likely benign|uncertain significance132491285124912851Human2trait , alternate_id
156298044CV1919796single nucleotide variantNM_018451.5(CPAP):c.2693-4A>TCENPJ-related disorder [RCV004540569]|Inborn genetic diseases [RCV002599036]|not provided [RCV002599035]likely benign|uncertain significance132490406224904062Human2trait , alternate_id
10052205CV194480single nucleotide variantNM_018451.5(CPAP):c.646T>C (p.Cys216Arg)CENPJ-related disorder [RCV004539665]|Inborn genetic diseases [RCV002516772]|Microcephaly 6, primary, autosomal recessive [RCV000338851]|Seckel syndrome 4 [RCV000402235]|not provided [RCV000724022]|not specified [RCV000178319]likely benign|conflicting interpretations of pathogenicity|uncertain significance132491000924910009Human3trait , alternate_id
155985782CV2030421deletionNM_018451.5(CPAP):c.2992-18_2992-14delCENPJ-related disorder [RCV004534189]|not provided [RCV002755531]likely benign132489288124892885Human1trait , alternate_id
10408343CV208038single nucleotide variantNM_018451.5(CPAP):c.1021T>G (p.Tyr341Asp)CENPJ-related disorder [RCV004530106]|Microcephaly 6, primary, autosomal recessive [RCV000354935]|Seckel syndrome 4 [RCV000276505]|not provided [RCV000725452]|not specified [RCV000193327]likely benign|conflicting interpretations of pathogenicity|uncertain significance132490714724907147Human2trait , alternate_id
401926118CV2803405microsatelliteNM_018451.5(CPAP):c.2205_2206del (p.Cys735_Asp736delinsTer)CENPJ-related disorder [RCV004528002]likely pathogenic132490583224905833Humantrait , alternate_id
405286288CV3192710single nucleotide variantNM_018451.5(CPAP):c.3561C>G (p.Thr1187=)CENPJ-related disorder [RCV004540954]likely benign132488438024884380Humantrait , alternate_id
11604148CV319335single nucleotide variantNM_018451.5(CPAP):c.2298T>A (p.Asp766Glu)CENPJ-related disorder [RCV004544548]|Inborn genetic diseases [RCV002520877]|Microcephaly 6, primary, autosomal recessive [RCV000363604]|Seckel syndrome 4 [RCV000306526]|not provided [RCV000915656]likely benign|uncertain significance132490574024905740Human3trait , alternate_id
11602016CV319344single nucleotide variantNM_018451.5(CPAP):c.659C>T (p.Ser220Leu)CENPJ-related disorder [RCV004537767]|Inborn genetic diseases [RCV004021567]|Meniere disease [RCV004567855]|Microcephaly 6, primary, autosomal recessive [RCV000287372]|Microcephaly 6, primary, autosomal recessive [RCV002480123]|Seckel syndrome 4 [RCV000340077]|nuncertain significance132490999624909996Human4trait , alternate_id
405280535CV3195585single nucleotide variantNM_018451.5(CPAP):c.2916G>A (p.Lys972=)CENPJ-related disorder [RCV004536984]likely benign132489949424899494Humantrait , alternate_id
405268330CV3198857deletionNM_018451.5(CPAP):c.784_787del (p.Asn262fs)CENPJ-related disorder [RCV004537048]likely benign132490986824909871Humantrait , alternate_id
405275255CV3200065single nucleotide variantNM_018451.5(CPAP):c.564T>A (p.Leu188=)CENPJ-related disorder [RCV004540927]likely benign132491195024911950Humantrait , alternate_id
405279549CV3206973single nucleotide variantNM_018451.5(CPAP):c.*9A>CCENPJ-related disorder [RCV004539415]uncertain significance132488316824883168Humantrait , alternate_id
405283886CV3213453deletionNM_018451.5(CPAP):c.777_781del (p.Ala259_Ser260insTer)CENPJ-related disorder [RCV004539444]likely benign132490987424909878Humantrait , alternate_id
11617663CV327863single nucleotide variantNM_018451.5(CPAP):c.3960C>T (p.Ser1320=)CENPJ-related disorder [RCV004537766]|Microcephaly 6, primary, autosomal recessive [RCV000306596]|Seckel syndrome 4 [RCV000342831]|not provided [RCV000901757]benign|likely benign|uncertain significance132488323424883234Human2trait , alternate_id
11618240CV327879single nucleotide variantNM_018451.5(CPAP):c.2571C>G (p.Ser857Arg)CENPJ-related disorder [RCV004544547]|Inborn genetic diseases [RCV002520876]|Microcephaly 6, primary, autosomal recessive [RCV000399339]|Seckel syndrome 4 [RCV000312222]|not provided [RCV000915655]likely benign|uncertain significance132490546724905467Human3trait , alternate_id
11614997CV335838single nucleotide variantNM_018451.5(CPAP):c.656C>T (p.Pro219Leu)CENPJ-related disorder [RCV004544549]|Inborn genetic diseases [RCV002520878]|Microcephaly 6, primary, autosomal recessive [RCV000281498]|Seckel syndrome 4 [RCV000396963]|not provided [RCV000891493]|not specified [RCV000499828]likely benign|uncertain significance132490999924909999Human3trait , alternate_id
8602323CV39740single nucleotide variantNM_018451.5(CPAP):c.2462C>T (p.Thr821Met)CENPJ-related disorder [RCV004541015]|Microcephaly 6, primary, autosomal recessive [RCV000023763]|Seckel syndrome 1 [RCV000988967]|Seckel syndrome 4 [RCV001110892]|not provided [RCV000885649]|not specified [RCV000597472]pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters132490557624905576Human3trait , alternate_id
28911089CV870979single nucleotide variantNM_018451.5(CPAP):c.4016G>A (p.Ter1339=)CENPJ-related disorder [RCV004538333]|Microcephaly 6, primary, autosomal recessive [RCV001109967]|Seckel syndrome 4 [RCV001109966]|not provided [RCV002069779]likely benign|uncertain significance132488317824883178Human2trait , alternate_id