single nucleotide variant | NM_020975.6(RET):c.1879+1G>A | RET | Pathogenic/Likely pathogenic | 10 | 43609124 | 43609124 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64577351 | 64577351 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA381187598 |
single nucleotide variant | NM_001370259.2(MEN1):c.784-1G>C | MEN1 | Pathogenic/Likely pathogenic | 11 | 64574692 | 64574692 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA381184025 |
Deletion | NM_001370259.2(MEN1):c.1602_1618del (p.Ala535fs) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64572021 | 64572037 | GGTGCTGGCACCTGAGCC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797660 |
Deletion | NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64577460 | 64577474 | CAGCACCAAGGAAAGG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369572 |
single nucleotide variant | NM_001370259.2(MEN1):c.514G>T (p.Asp172Tyr) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64575503 | 64575503 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA381186018 |
single nucleotide variant | NM_001370259.2(MEN1):c.913-2A>G | MEN1 | Pathogenic/Likely pathogenic | 11 | 64573842 | 64573842 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA381183467 |
single nucleotide variant | NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64573794 | 64573794 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA381183361 |
single nucleotide variant | NM_001370259.2(MEN1):c.1049+1G>C | MEN1 | Pathogenic/Likely pathogenic | 11 | 64573703 | 64573703 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA381183126 |
Deletion | NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64571971 | 64571974 | TCTCA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369569 |