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.3495_3497dupGAA (p.Lys1165_Asn1166insLys) | -1 | - | Likely pathogenic | 776528706 | RCV000192678; | N | MedGen:CN074082,OMIM:613676 | 13 | 25458582 | 25458584 | NM_018451.4:c.3495_3497dupGAA | NP_060921.3:p.Lys1165_Asn1166insLys | NC_000013.10:g.25458582_25458584dupTTC | - | CN074082 613676 Seckel syndrome 4 | | |
NM_018451.4(CENPJ):c.3302-1G>C | -1 | - | Pathogenic | 864321658 | RCV000001893; | N | MedGen:CN074082,OMIM:613676 | 13 | 25459809 | 25459809 | NM_018451.4:c.3302-1G>C | | NC_000013.10:g.25459809C>G | OMIM Allelic Variant:609279.0004 | CN074082 613676 Seckel syndrome 4 | | |
NM_018451.4(CENPJ):c.3007dupA (p.Ile1003Asnfs) | 55835 | CENPJ | Pathogenic | 797045452 | RCV000194172; | N | MedGen:CN074082,OMIM:613676 | 13 | 25466990 | 25466990 | NM_018451.4:c.3007dupA | NP_060921.3:p.Ile1003Asnfs | NC_000013.10:g.25466990dupT | - | CN074082 613676 Seckel syndrome 4 | | |
NM_018451.4(CENPJ):c.1969C>T (p.Gln657Ter) | 55835 | CENPJ | Pathogenic | 797045450 | RCV000192998; | N | MedGen:CN074082,OMIM:613676 | 13 | 25480207 | 25480207 | NM_018451.4:c.1969C>T | NP_060921.3:p.Gln657Ter | NC_000013.10:g.25480207G>A | - | CN074082 613676 Seckel syndrome 4 | | |
NM_018451.4(CENPJ):c.1882delG (p.Ala628Glnfs) | 55835 | CENPJ | Pathogenic | 797045449 | RCV000194611; | N | MedGen:CN074082,OMIM:613676 | 13 | 25480294 | 25480294 | NM_018451.4:c.1882delG | NP_060921.3:p.Ala628Glnfs | NC_000013.10:g.25480294delC | - | CN074082 613676 Seckel syndrome 4 | | |
NM_018451.4(CENPJ):c.1850_1851delCT (p.Pro617Argfs) | 55835 | CENPJ | Pathogenic | 797045448 | RCV000192528; | N | MedGen:CN074082,OMIM:613676 | 13 | 25480325 | 25480326 | NM_018451.4:c.1850_1851delCT | NP_060921.3:p.Pro617Argfs | NC_000013.10:g.25480325_25480326delAG | - | CN074082 613676 Seckel syndrome 4 | | |
NM_018451.4(CENPJ):c.1404_1407delTTCT (p.Ser469Argfs) | 55835 | CENPJ | Pathogenic | 777893196 | RCV000194484; | N | MedGen:CN074082,OMIM:613676 | 13 | 25480769 | 25480772 | NM_018451.4:c.1404_1407delTTCT | NP_060921.3:p.Ser469Argfs | NC_000013.10:g.25480769_25480772delAGAA | - | CN074082 613676 Seckel syndrome 4 | | |
NM_018451.4(CENPJ):c.1339A>T (p.Lys447Ter) | 55835 | CENPJ | Pathogenic | 797045447 | RCV000192408; | N | MedGen:CN074082,OMIM:613676 | 13 | 25480837 | 25480837 | NM_018451.4:c.1339A>T | NP_060921.3:p.Lys447Ter | NC_000013.10:g.25480837T>A | - | CN074082 613676 Seckel syndrome 4 | | |
NM_018451.4(CENPJ):c.1263G>C (p.Gln421His) | 55835 | CENPJ | Likely pathogenic | 201088712 | RCV000194381; | N | MedGen:CN074082,OMIM:613676 | 13 | 25480913 | 25480913 | NM_018451.4:c.1263G>C | NP_060921.3:p.Gln421His | NC_000013.10:g.25480913C>G | - | CN074082 613676 Seckel syndrome 4 | | |
NM_018451.4(CENPJ):c.897_898delAG (p.Glu300Thrfs) | 55835 | CENPJ | Pathogenic | 797045454 | RCV000193152; | N | MedGen:CN074082,OMIM:613676 | 13 | 25482232 | 25482233 | NM_018451.4:c.897_898delAG | NP_060921.3:p.Glu300Thrfs | NC_000013.10:g.25482232_25482233delCT | - | CN074082 613676 Seckel syndrome 4 | | |