Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_018451.4(CENPJ):c.3920C>T (p.Thr1307Ile) | -1 | - | Uncertain significance | 144251950 | RCV000145580; | N | MedGen:C1842109,OMIM:608393 | 13 | 25457412 | 25457412 | NM_018451.4:c.3920C>T | NP_060921.3:p.Thr1307Ile | NC_000013.10:g.25457412G>A | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.3704A>T (p.Glu1235Val) | -1 | - | Pathogenic | 121434311 | RCV000001891; | N | MedGen:C1842109,OMIM:608393 | 13 | 25458221 | 25458221 | NM_018451.4:c.3704A>T | NP_060921.3:p.Glu1235Val | NC_000013.10:g.25458221T>A | OMIM Allelic Variant:609279.0002 | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.3448C>T (p.Gln1150Ter) | -1 | - | Pathogenic | 587783410 | RCV000145577; | N | MedGen:C1842109,OMIM:608393 | 13 | 25459443 | 25459443 | NM_018451.4:c.3448C>T | NP_060921.3:p.Gln1150Ter | NC_000013.10:g.25459443G>A | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.3367-4A>G | -1 | - | Uncertain significance | 587783409 | RCV000145576; | N | MedGen:C1842109,OMIM:608393 | 13 | 25459528 | 25459528 | NM_018451.4:c.3367-4A>G | | NC_000013.10:g.25459528T>C | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.3305A>G (p.Asn1102Ser) | -1 | - | Benign | 41300592 | RCV000020854; | N | MedGen:C1842109,OMIM:608393 | 13 | 25459805 | 25459805 | NM_018451.4:c.3305A>G | NP_060921.3:p.Asn1102Ser | NC_000013.10:g.25459805T>C | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.3243_3246delTCAG (p.Ser1081Argfs) | 55835 | CENPJ | Pathogenic | 199422203 | RCV000001892; | N | MedGen:C1842109,OMIM:608393 | 13 | 25463509 | 25463512 | NM_018451.4:c.3243_3246delTCAG | NP_060921.3:p.Ser1081Argfs | NC_000013.10:g.25463509_25463512delCTGA | OMIM Allelic Variant:609279.0003 | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.2852A>G (p.Gln951Arg) | 55835 | CENPJ | Uncertain significance | 138675304 | RCV000145571; | N | MedGen:C1842109,OMIM:608393 | 13 | 25473696 | 25473696 | NM_018451.4:c.2852A>G | NP_060921.3:p.Gln951Arg | NC_000013.10:g.25473696T>C | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.2678A>C (p.Gln893Pro) | 55835 | CENPJ | Benign | 41306029 | RCV000020852; | N | MedGen:C1842109,OMIM:608393 | 13 | 25479498 | 25479498 | NM_018451.4:c.2678A>C | NP_060921.3:p.Gln893Pro | NC_000013.10:g.25479498T>G | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.2635T>G (p.Ser879Ala) | 55835 | CENPJ | Benign | 17402892 | RCV000020851; RCV000145569; | N | MedGen:C1842109,OMIM:608393; MedGen:CN169374 | 13 | 25479541 | 25479541 | NM_018451.4:c.2635T>G | NP_060921.3:p.Ser879Ala | NC_000013.10:g.25479541A>C | - | CN169374 not specified; C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.2470A>T (p.Thr824Ser) | 55835 | CENPJ | Uncertain significance | 149885751 | RCV000145567; | N | MedGen:C1842109,OMIM:608393 | 13 | 25479706 | 25479706 | NM_018451.4:c.2470A>T | NP_060921.3:p.Thr824Ser | NC_000013.10:g.25479706T>A | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.2462C>T (p.Thr821Met) | 55835 | CENPJ | Pathogenic;Uncertain significance | 144938364 | RCV000023763; | N | MedGen:C1842109,OMIM:608393 | 13 | 25479714 | 25479714 | NM_018451.4:c.2462C>T | NP_060921.3:p.Thr821Met | NC_000013.10:g.25479714G>A | OMIM Allelic Variant:609279.0005 | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.2210A>G (p.Asp737Gly) | 55835 | CENPJ | Uncertain significance | 587783408 | RCV000145566; | N | MedGen:C1842109,OMIM:608393 | 13 | 25479966 | 25479966 | NM_018451.4:c.2210A>G | NP_060921.3:p.Asp737Gly | NC_000013.10:g.25479966T>C | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.1960G>A (p.Ala654Thr) | 55835 | CENPJ | Uncertain significance | 140927921 | RCV000145563; | N | MedGen:C1842109,OMIM:608393 | 13 | 25480216 | 25480216 | NM_018451.4:c.1960G>A | NP_060921.3:p.Ala654Thr | NC_000013.10:g.25480216C>T | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.1586C>G (p.Ser529Ter) | 55835 | CENPJ | Pathogenic | 202058504 | RCV000145556; | N | MedGen:C1842109,OMIM:608393 | 13 | 25480590 | 25480590 | NM_018451.4:c.1586C>G | NP_060921.3:p.Ser529Ter | NC_000013.10:g.25480590G>C | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.1513G>A (p.Glu505Lys) | 55835 | CENPJ | Uncertain significance | 145679691 | RCV000145554; RCV000179958; | N | MedGen:C1842109,OMIM:608393; MedGen:CN221809 | 13 | 25480663 | 25480663 | NM_018451.4:c.1513G>A | NP_060921.3:p.Glu505Lys | NC_000013.10:g.25480663C>T | - | CN221809 not provided; C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.1410G>A (p.Pro470=) | 55835 | CENPJ | Uncertain significance | 115628561 | RCV000145553; | N | MedGen:C1842109,OMIM:608393 | 13 | 25480766 | 25480766 | NM_018451.4:c.1410G>A | NP_060921.3:p.Pro470= | NC_000013.10:g.25480766C>T | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.810A>G (p.Gln270=) | 55835 | CENPJ | Uncertain significance | 572213217 | RCV000145587; | N | MedGen:C1842109,OMIM:608393 | 13 | 25483983 | 25483983 | NM_018451.4:c.810A>G | NP_060921.3:p.Gln270= | NC_000013.10:g.25483983T>C | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.699G>A (p.Pro233=) | 55835 | CENPJ | Uncertain significance | 587783413 | RCV000145586; | N | MedGen:C1842109,OMIM:608393 | 13 | 25484094 | 25484094 | NM_018451.4:c.699G>A | NP_060921.3:p.Pro233= | NC_000013.10:g.25484094C>T | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.650G>A (p.Cys217Tyr) | 55835 | CENPJ | Uncertain significance | 587783412 | RCV000145584; | N | MedGen:C1842109,OMIM:608393 | 13 | 25484143 | 25484143 | NM_018451.4:c.650G>A | NP_060921.3:p.Cys217Tyr | NC_000013.10:g.25484143C>T | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.600G>T (p.Gln200His) | 55835 | CENPJ | Uncertain significance | 200061825 | RCV000145582; | N | MedGen:C1842109,OMIM:608393 | 13 | 25484193 | 25484193 | NM_018451.4:c.600G>T | NP_060921.3:p.Gln200His | NC_000013.10:g.25484193C>A | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.452A>G (p.Glu151Gly) | 55835 | CENPJ | Benign;Uncertain significance | 34177811 | RCV000020855; | N | MedGen:C1842109,OMIM:608393 | 13 | 25486200 | 25486200 | NM_018451.4:c.452A>G | NP_060921.3:p.Glu151Gly | NC_000013.10:g.25486200T>C | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.444+3A>G | 55835 | CENPJ | Uncertain significance | 587783411 | RCV000145581; | N | MedGen:C1842109,OMIM:608393 | 13 | 25486717 | 25486717 | NM_018451.4:c.444+3A>G | | NC_000013.10:g.25486717T>C | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.289A>G (p.Thr97Ala) | 55835 | CENPJ | Benign;Uncertain significance | 41306027 | RCV000020853; | N | MedGen:C1842109,OMIM:608393 | 13 | 25486875 | 25486875 | NM_018451.4:c.289A>G | NP_060921.3:p.Thr97Ala | NC_000013.10:g.25486875T>C | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.216T>G (p.Asp72Glu) | 55835 | CENPJ | Uncertain significance | 34395671 | RCV000145565; | N | MedGen:C1842109,OMIM:608393 | 13 | 25486948 | 25486948 | NM_018451.4:c.216T>G | NP_060921.3:p.Asp72Glu | NC_000013.10:g.25486948A>C | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.187G>C (p.Asp63His) | 55835 | CENPJ | Benign | 7336216 | RCV000020850; RCV000145560; | N | MedGen:C1842109,OMIM:608393; MedGen:CN169374 | 13 | 25486977 | 25486977 | NM_018451.4:c.187G>C | NP_060921.3:p.Asp63His | NC_000013.10:g.25486977C>G | - | CN169374 not specified; C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.175A>G (p.Thr59Ala) | 55835 | CENPJ | Uncertain significance | 138732534 | RCV000145559; | N | MedGen:C1842109,OMIM:608393 | 13 | 25486989 | 25486989 | NM_018451.4:c.175A>G | NP_060921.3:p.Thr59Ala | NC_000013.10:g.25486989T>C | - | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.163C>G (p.Pro55Ala) | 55835 | CENPJ | Benign;Likely benign | 17081389 | RCV000020849; RCV000145558; | N | MedGen:C1842109,OMIM:608393; MedGen:CN169374 | 13 | 25487001 | 25487001 | NM_018451.4:c.163C>G | NP_060921.3:p.Pro55Ala | NC_000013.10:g.25487001G>C | - | CN169374 not specified; C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.61A>G (p.Met21Val) | 55835 | CENPJ | Benign | 35498994 | RCV000020856; RCV000081958; | N | MedGen:C1842109,OMIM:608393; MedGen:CN169374 | 13 | 25487103 | 25487103 | NM_018451.4:c.61A>G | NP_060921.3:p.Met21Val | NC_000013.10:g.25487103T>A,NC_000013.10:g.25487103T>C | - | CN169374 not specified; C1842109 608393 Primary autosomal recessive microcephaly 6 | | |
NM_018451.4(CENPJ):c.17delC (p.Ser7Leufs) | 55835 | CENPJ | Pathogenic | 199422202 | RCV000001890; | N | MedGen:C1842109,OMIM:608393 | 13 | 25487147 | 25487147 | NM_018451.4:c.17delC | NP_060921.3:p.Ser7Leufs | NC_000013.10:g.25487147delG | OMIM Allelic Variant:609279.0001 | C1842109 608393 Primary autosomal recessive microcephaly 6 | | |