single nucleotide variant | NM_000117.3(EMD):c.83-2A>G | EMD | Likely pathogenic | X | 153608048 | 153608048 | A | G | criteria provided, single submitter | ClinGen:CA273634 |
Deletion | NM_000117.3(EMD):c.284_298del (p.Tyr95_Tyr99del) | EMD | Likely pathogenic | X | 153608607 | 153608621 | ACTACTATGAAGAGAG | A | criteria provided, single submitter | ClinGen:CA220362 |
single nucleotide variant | NM_170707.4(LMNA):c.99G>C (p.Glu33Asp) | LMNA | Likely pathogenic | 1 | 156084808 | 156084808 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA018946,UniProtKB:P02545#VAR_039750 |
single nucleotide variant | NM_170707.4(LMNA):c.74G>C (p.Arg25Pro) | LMNA | Likely pathogenic | 1 | 156084783 | 156084783 | G | C | criteria provided, single submitter | ClinGen:CA018579,UniProtKB:P02545#VAR_039747 |
single nucleotide variant | NM_170707.4(LMNA):c.73C>T (p.Arg25Cys) | LMNA | Likely pathogenic | 1 | 156084782 | 156084782 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA018538 |
single nucleotide variant | NM_170707.4(LMNA):c.694G>C (p.Gly232Arg) | LMNA | Likely pathogenic | 1 | 156104650 | 156104650 | G | C | criteria provided, single submitter | ClinGen:CA018465 |
single nucleotide variant | NM_170707.4(LMNA):c.656A>C (p.Lys219Thr) | LMNA | Likely pathogenic | 1 | 156104612 | 156104612 | A | C | criteria provided, single submitter | ClinGen:CA018400 |
Deletion | NM_170707.4(LMNA):c.626del (p.Asn209fs) | LMNA | Likely pathogenic | 1 | 156104305 | 156104305 | GA | G | criteria provided, single submitter | ClinGen:CA018329 |
single nucleotide variant | NM_170707.4(LMNA):c.608A>T (p.Glu203Val) | LMNA | Likely pathogenic | 1 | 156104288 | 156104288 | A | T | criteria provided, single submitter | ClinGen:CA018303 |
single nucleotide variant | NM_170707.4(LMNA):c.575A>T (p.Asp192Val) | LMNA | Likely pathogenic | 1 | 156104255 | 156104255 | A | T | criteria provided, single submitter | ClinGen:CA018263 |