Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_194318.3(B3GLCT):c.347+5G>A | 145173 | B3GLCT | Pathogenic | 80338850 | RCV000001327; | N | MedGen:C0796012,OMIM:261540,ORPHA:709 | 13 | 31821241 | 31821241 | NM_194318.3:c.347+5G>A | | NC_000013.10:g.31821241G>A | OMIM Allelic Variant:610308.0002 | C0796012 261540 Peters plus syndrome | | |
NM_194318.3(B3GLCT):c.660+1G>A | 145173 | B3GLCT | Pathogenic | 80338851 | RCV000001326; RCV000082789; | N | MedGen:C0796012,OMIM:261540,ORPHA:709; MedGen:CN221809 | 13 | 31843415 | 31843415 | NM_194318.3:c.660+1G>A | | NC_000013.10:g.31843415G>A | HGMD:CS064369,OMIM Allelic Variant:610308.0001 | CN221809 not provided; C0796012 261540 Peters plus syndrome | | |
NM_194318.3(B3GLCT):c.1065-1G>A | 145173 | B3GLCT | Pathogenic | 371904655 | RCV000174622; | N | MedGen:C0796012,OMIM:261540,ORPHA:709 | 13 | 31891702 | 31891702 | NM_194318.3:c.1065-1G>A | | NC_000013.10:g.31891702G>A | - | C0796012 261540 Peters plus syndrome | | |
NM_194318.3(B3GLCT):c.1067_1082del16 (p.Ile356Thrfs) | 145173 | B3GLCT | Pathogenic | 794727108 | RCV000174621; | N | MedGen:C0796012,OMIM:261540,ORPHA:709 | 13 | 31891705 | 31891720 | NM_194318.3:c.1067_1082del16 | NP_919299.3:p.Ile356Thrfs | NC_000013.10:g.31891705_31891720delTCTCCAGGCTCCAGCA | - | C0796012 261540 Peters plus syndrome | | |
NM_194318.3(B3GLCT):c.1098T>A (p.Tyr366Ter) | 145173 | B3GLCT | Pathogenic | 80338852 | RCV000021077; | N | MedGen:C0796012,OMIM:261540,ORPHA:709 | 13 | 31891736 | 31891736 | NM_194318.3:c.1098T>A | NP_919299.3:p.Tyr366Ter | NC_000013.10:g.31891736T>A | - | C0796012 261540 Peters plus syndrome | | |
NM_194318.3(B3GLCT):c.1178G>A (p.Gly393Glu) | 145173 | B3GLCT | Pathogenic | 267606675 | RCV000001330; | N | MedGen:C0796012,OMIM:261540,ORPHA:709 | 13 | 31891816 | 31891816 | NM_194318.3:c.1178G>A | NP_919299.3:p.Gly393Glu | NC_000013.10:g.31891816G>A | OMIM Allelic Variant:610308.0005 | C0796012 261540 Peters plus syndrome | | |