single nucleotide variant | NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15291028 | 15291028 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16620807 |
single nucleotide variant | NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15290984 | 15290984 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA404513546 |
single nucleotide variant | NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15290914 | 15290914 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA404513034 |
single nucleotide variant | NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) | NOTCH3 | Pathogenic/Likely pathogenic | 19 | 15290279 | 15290279 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA404512422 |
Duplication | NM_000435.3(NOTCH3):c.5926dup (p.Leu1976fs) | NOTCH3 | Likely pathogenic | 19 | 15272512 | 15272513 | A | AG | criteria provided, single submitter | ClinGen:CA16620806 |
single nucleotide variant | NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter) | NOTCH3 | Pathogenic | 19 | 15272192 | 15272192 | T | A | criteria provided, single submitter | ClinGen:CA204353,OMIM:600276.0017 |
Deletion | NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs) | NOTCH3 | Pathogenic | 19 | 15271953 | 15271978 | GCAGGCCCAGGCTGAGTACACATCCTC | G | criteria provided, single submitter | ClinGen:CA358561,OMIM:600276.0013 |
Duplication | NM_000435.3(NOTCH3):c.6508dup (p.Leu2170fs) | NOTCH3 | Pathogenic | 19 | 15271930 | 15271931 | A | AG | criteria provided, single submitter | ClinGen:CA658799172 |
single nucleotide variant | NM_000435.3(NOTCH3):c.6633C>G (p.Tyr2211Ter) | NOTCH3 | Pathogenic | 19 | 15271806 | 15271806 | G | C | criteria provided, single submitter | ClinGen:CA16043086 |
single nucleotide variant | NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter) | NOTCH3 | Pathogenic | 19 | 15271776 | 15271776 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA358562,OMIM:600276.0016 |