Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_014000.3(VCL):c.1544-2A>G | VCL | Likely pathogenic | 10 | 75855412 | 75855412 | A | G | criteria provided, single submitter | ClinGen:CA273292 |
single nucleotide variant | NM_014000.3(VCL):c.1762C>T (p.Gln588Ter) | VCL | Likely pathogenic | 10 | 75856980 | 75856980 | C | T | criteria provided, single submitter | ClinGen:CA273521 |
single nucleotide variant | NM_014000.3(VCL):c.1531G>T (p.Asp511Tyr) | VCL | Likely pathogenic | 10 | 75854207 | 75854207 | G | T | criteria provided, single submitter | ClinGen:CA279267 |
Duplication | NM_003373.4(VCL):c.670dup (p.Glu224fs) | VCL | Likely pathogenic | 10 | 75834547 | 75834548 | A | AG | criteria provided, single submitter | ClinGen:CA10576823 |