single nucleotide variant | NM_001005373.4(LRSAM1):c.388C>T (p.Gln130Ter) | LRSAM1 | Pathogenic | 9 | 130223518 | 130223518 | C | T | criteria provided, single submitter | ClinGen:CA374968146 |
single nucleotide variant | NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) | GDAP1 | Pathogenic/Likely pathogenic | 8 | 75274205 | 75274205 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA371549300 |
single nucleotide variant | NM_001005373.4(LRSAM1):c.636C>G (p.Tyr212Ter) | LRSAM1 | Pathogenic | 9 | 130236096 | 130236096 | C | G | criteria provided, single submitter | ClinGen:CA374929642 |
single nucleotide variant | NM_001005373.4(LRSAM1):c.252+1G>A | LRSAM1 | Likely pathogenic | 9 | 130219673 | 130219673 | G | A | criteria provided, single submitter | ClinGen:CA374964715 |
Deletion | NM_001005373.4(LRSAM1):c.2102del (p.Gln701fs) | LRSAM1 | Likely pathogenic | 9 | 130265108 | 130265108 | CA | C | criteria provided, single submitter | ClinGen:CA658797277 |
single nucleotide variant | NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn) | IGHMBP2 | Pathogenic/Likely pathogenic | 11 | 68696788 | 68696788 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA6153542 |
single nucleotide variant | NM_021625.5(TRPV4):c.805C>A (p.Arg269Ser) | TRPV4 | Likely pathogenic | 12 | 110238471 | 110238471 | G | T | criteria provided, single submitter | ClinGen:CA386655325 |
single nucleotide variant | NM_021625.5(TRPV4):c.710G>T (p.Arg237Leu) | TRPV4 | Likely pathogenic | 12 | 110240798 | 110240798 | C | A | criteria provided, single submitter | ClinGen:CA386655927 |
single nucleotide variant | NM_016156.6(MTMR2):c.993+1G>A | MTMR2 | Likely pathogenic | 11 | 95582837 | 95582837 | C | T | criteria provided, single submitter | ClinGen:CA382425108 |
single nucleotide variant | NM_016156.6(MTMR2):c.804+2T>G | MTMR2 | Likely pathogenic | 11 | 95583762 | 95583762 | A | C | criteria provided, single submitter | ClinGen:CA382425665 |