Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
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(GRCh37) |
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Deletion | NM_017739.4(POMGNT1):c.10del (p.Trp4fs) | POMGNT1 | Pathogenic | 1 | 46663484 | 46663484 | CA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) | RPE65 | Pathogenic/Likely pathogenic | 1 | 68897192 | 68897192 | C | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000329.3(RPE65):c.991_993dup (p.Trp331dup) | RPE65 | Pathogenic | 1 | 68904629 | 68904630 | T | TCCA | criteria provided, single submitter | - |
single nucleotide variant | NM_201548.5(CERKL):c.334C>T (p.Gln112Ter) | CERKL | Pathogenic | 2 | 182468711 | 182468711 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_201548.5(CERKL):c.2T>G (p.Met1Arg) | CERKL | Pathogenic | 2 | 182521732 | 182521732 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_201548.5(CERKL):c.2T>C (p.Met1Thr) | CERKL | Pathogenic | 2 | 182521732 | 182521732 | A | G | criteria provided, single submitter | - |
Deletion | NM_001201543.2(FAM161A):c.336del (p.Lys112fs) | FAM161A | Pathogenic | 2 | 62069343 | 62069343 | AT | A | criteria provided, single submitter | - |
Deletion | NM_174878.3(CLRN1):c.578del (p.Phe193fs) | CLRN1 | Pathogenic | 3 | 150645844 | 150645844 | GA | G | criteria provided, single submitter | - |
Duplication | NM_174878.3(CLRN1):c.121_136dup (p.Leu46fs) | CLRN1 | Pathogenic | 3 | 150690359 | 150690360 | A | AGCAGAGCTCCCGTTTT | criteria provided, single submitter | - |
Deletion | NM_182916.3(TRNT1):c.324_330del (p.His108fs) | TRNT1 | Pathogenic | 3 | 3179117 | 3179123 | GCACGGAA | G | criteria provided, single submitter | - |