single nucleotide variant | NM_004612.4(TGFBR1):c.1420T>C (p.Cys474Arg) | TGFBR1 | Likely pathogenic | 9 | 101911495 | 101911495 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA323032 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp) | TGFBR2 | Pathogenic/Likely pathogenic | 3 | 30729887 | 30729887 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA321611 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp) | TGFBR2 | Likely pathogenic | 3 | 30713727 | 30713727 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA351866 |
single nucleotide variant | NM_002317.7(LOX):c.893T>G (p.Met298Arg) | LOX | Pathogenic/Likely pathogenic | 5 | 121409850 | 121409850 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576645,OMIM:153455.0005 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1271A>G (p.Tyr424Cys) | TGFBR2 | Pathogenic | 3 | 30715613 | 30715613 | A | G | criteria provided, single submitter | ClinGen:CA10582147 |
Deletion | NM_003242.6(TGFBR2):c.1529del (p.Ile510fs) | TGFBR2 | Likely pathogenic | 3 | 30732916 | 30732916 | AT | A | criteria provided, single submitter | ClinGen:CA10582148 |
single nucleotide variant | NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn) | TGFBR2 | Pathogenic | 3 | 30713506 | 30713506 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10587565 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn) | TGFBR2 | Likely pathogenic | 3 | 30713864 | 30713864 | G | A | criteria provided, single submitter | ClinGen:CA10587567 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1136A>T (p.Asp379Val) | TGFBR2 | Pathogenic | 3 | 30713811 | 30713811 | A | T | criteria provided, single submitter | ClinGen:CA10587568 |
single nucleotide variant | NM_003242.6(TGFBR2):c.1178G>A (p.Cys393Tyr) | TGFBR2 | Pathogenic | 3 | 30713853 | 30713853 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10587569 |