single nucleotide variant | NM_000117.3(EMD):c.123C>A (p.Tyr41Ter) | EMD | Pathogenic | X | 153608090 | 153608090 | C | A | criteria provided, single submitter | ClinGen:CA16616634 |
single nucleotide variant | NM_000117.3(EMD):c.419T>A (p.Leu140Ter) | EMD | Pathogenic | X | 153609132 | 153609132 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16608835 |
single nucleotide variant | NM_000117.3(EMD):c.512C>A (p.Ser171Ter) | EMD | Pathogenic | X | 153609304 | 153609304 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10606711 |
Deletion | NM_000117.3(EMD):c.251_255del (p.Leu84fs) | EMD | Pathogenic | X | 153608362 | 153608366 | TTACTC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10561551,LOVD 3:EMD_000023,OMIM:300384.0010 |
single nucleotide variant | NM_000117.3(EMD):c.3G>A (p.Met1Ile) | EMD | Pathogenic | X | 153607847 | 153607847 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603810 |
single nucleotide variant | NM_000117.3(EMD):c.103G>T (p.Glu35Ter) | EMD | Pathogenic | X | 153608070 | 153608070 | G | T | criteria provided, single submitter | ClinGen:CA10603420 |
Deletion | NM_000117.3(EMD):c.60del (p.Asn20fs) | EMD | Pathogenic/Likely pathogenic | X | 153607904 | 153607904 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603419 |
Duplication | NM_000117.3(EMD):c.153dup (p.Ser52fs) | EMD | Pathogenic | X | 153608114 | 153608115 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA10581192 |
single nucleotide variant | NM_000117.3(EMD):c.187+1G>T | EMD | Pathogenic | X | 153608155 | 153608155 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA335148 |
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 |