Deletion | NM_144997.7(FLCN):c.235_238del (p.Ser79fs) | FLCN | Pathogenic | 17 | 17131214 | 17131217 | TCCGA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA8416487,OMIM:607273.0009 |
Deletion | NM_144997.7(FLCN):c.239del (p.Asp80fs) | FLCN | Pathogenic | 17 | 17131213 | 17131213 | GT | G | criteria provided, single submitter | ClinGen:CA16615385 |
Duplication | NM_144997.7(FLCN):c.237_240dup (p.Met81fs) | FLCN | Pathogenic | 17 | 17131211 | 17131212 | T | TGTCC | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_144997.7(FLCN):c.241_242del (p.Met81fs) | FLCN | Pathogenic | 17 | 17131210 | 17131211 | CAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16043012 |
single nucleotide variant | NM_144997.7(FLCN):c.249+1G>T | FLCN | Likely pathogenic | 17 | 17131202 | 17131202 | C | A | criteria provided, single submitter | ClinGen:CA16615127 |
single nucleotide variant | NM_144997.7(FLCN):c.250-2A>G | FLCN | Pathogenic/Likely pathogenic | 17 | 17129638 | 17129638 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA224166,OMIM:607273.0014 |
single nucleotide variant | NM_144997.7(FLCN):c.250-1G>A | FLCN | Pathogenic/Likely pathogenic | 17 | 17129637 | 17129637 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA191617 |
Deletion | NM_144997.7(FLCN):c.296del (p.Asp99fs) | FLCN | Pathogenic | 17 | 17129590 | 17129590 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA224167 |
Deletion | NM_144997.7(FLCN):c.312del (p.Lys105fs) | FLCN | Pathogenic | 17 | 17129574 | 17129574 | TA | T | criteria provided, single submitter | - |
Indel | NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs) | FLCN | Pathogenic | 17 | 17129566 | 17129567 | AC | GTG | criteria provided, multiple submitters, no conflicts | ClinGen:CA224168 |