single nucleotide variant | NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) | IFT140 | Pathogenic/Likely pathogenic | 16 | 1569983 | 1569983 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA276675316 |
Duplication | NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) | IFT140 | Pathogenic | 16 | 1570005 | 1570006 | G | GC | criteria provided, single submitter | ClinGen:CA129890,OMIM:614620.0006 |
single nucleotide variant | NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu) | IFT140 | Pathogenic | 16 | 1570178 | 1570178 | C | T | criteria provided, single submitter | ClinGen:CA277670 |
Duplication | NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) | IFT140 | Pathogenic/Likely pathogenic | 16 | 1573845 | 1573846 | A | ACCGC | criteria provided, multiple submitters, no conflicts | ClinGen:CA7813238 |
single nucleotide variant | NM_014714.4(IFT140):c.3141+1G>T | IFT140 | Pathogenic | 16 | 1574552 | 1574552 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA7813303 |
single nucleotide variant | NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter) | IFT140 | Pathogenic | 16 | 1576000 | 1576000 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) | IFT140 | Likely pathogenic | 16 | 1576058 | 1576058 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_014714.4(IFT140):c.2577+25G>A | IFT140 | Pathogenic/Likely pathogenic | 16 | 1576595 | 1576595 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658798460 |
single nucleotide variant | NM_014714.4(IFT140):c.2400-2A>G | IFT140 | Pathogenic/Likely pathogenic | 16 | 1576799 | 1576799 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA394228609 |
single nucleotide variant | NM_014714.4(IFT140):c.2399+1G>T | IFT140 | Pathogenic | 16 | 1607935 | 1607935 | C | A | criteria provided, multiple submitters, no conflicts | OMIM:614620.0002,ClinGen:CA129886 |