single nucleotide variant | NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter) | PLEKHG5 | Pathogenic/Likely pathogenic | 1 | 6528354 | 6528354 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter) | PLEKHG5 | Pathogenic/Likely pathogenic | 1 | 6529298 | 6529298 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA561265 |
single nucleotide variant | NM_020631.6(PLEKHG5):c.1080+1G>A | PLEKHG5 | Likely pathogenic | 1 | 6532586 | 6532586 | C | T | criteria provided, single submitter | ClinGen:CA338132434 |
single nucleotide variant | NM_020631.6(PLEKHG5):c.985-2A>G | PLEKHG5 | Pathogenic/Likely pathogenic | 1 | 6532684 | 6532684 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA338133178 |
Deletion | NM_020631.6(PLEKHG5):c.453_543del (p.Gly152fs) | PLEKHG5 | Pathogenic | 1 | 6534121 | 6534211 | GGGCGGGGGGCCCGGTCCCAGCTGGCCGCAGAATCGGCAAACTCAGGGACTTGGAGTCCTTCATGCCCTGCTCCACCTTGCCCTCATCTCCA | G | criteria provided, single submitter | - |
Deletion | NM_020631.6(PLEKHG5):c.58del (p.Arg20fs) | PLEKHG5 | Pathogenic | 1 | 6536082 | 6536082 | CG | C | criteria provided, single submitter | - |
Deletion | NC_000011.10:g.(?_9780408)_(10042991_?)del | SBF2 | Likely pathogenic | 11 | 9801955 | 10064538 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_030962.4(SBF2):c.5451+2T>G | SBF2 | Likely pathogenic | 11 | 9803052 | 9803052 | A | C | criteria provided, single submitter | ClinGen:CA10604738 |
Insertion | NM_030962.4(SBF2):c.5254_5255insTTAT (p.Lys1752fs) | SBF2 | Pathogenic/Likely pathogenic | 11 | 9805962 | 9805963 | T | TATAA | criteria provided, multiple submitters, no conflicts | ClinGen:CA16619420 |
single nucleotide variant | NM_030962.4(SBF2):c.5037+1G>A | SBF2 | Pathogenic | 11 | 9809180 | 9809180 | C | T | criteria provided, single submitter | ClinGen:CA16613472 |