Duplication | NM_194454.3(KRIT1):c.2083dup (p.Thr695fs) | KRIT1 | Likely pathogenic | 7 | 91830679 | 91830680 | G | GT | criteria provided, single submitter | - |
Deletion | NM_194454.3(KRIT1):c.2139del (p.Lys713fs) | KRIT1 | Likely pathogenic | 7 | 91830624 | 91830624 | GT | G | criteria provided, single submitter | - |
single nucleotide variant | NM_194454.3(KRIT1):c.2143-1G>C | KRIT1 | Likely pathogenic | 7 | 91830119 | 91830119 | C | G | criteria provided, single submitter | - |
Deletion | NM_031443.4(CCM2):c.790del (p.Glu264fs) | CCM2 | Likely pathogenic | 7 | 45112368 | 45112368 | TG | T | criteria provided, single submitter | - |
single nucleotide variant | NM_031443.4(CCM2):c.609G>A (p.Lys203=) | CCM2 | Likely pathogenic | 7 | 45108178 | 45108178 | G | A | criteria provided, single submitter | - |
Deletion | NM_031443.4(CCM2):c.586del (p.Val196fs) | CCM2 | Likely pathogenic | 7 | 45108154 | 45108154 | TG | T | criteria provided, single submitter | - |
Deletion | NM_031443.4(CCM2):c.298del (p.Gln100fs) | CCM2 | Likely pathogenic | 7 | 45104070 | 45104070 | AC | A | criteria provided, single submitter | - |
Deletion | NM_031443.4(CCM2):c.289-19_352del | CCM2 | Likely pathogenic | 7 | 45104042 | 45104124 | ATGCCCTGTGGTTCCTTCCAGAGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCG | A | criteria provided, single submitter | - |
Deletion | NM_007217.4(PDCD10):c.117del (p.Ala40fs) | PDCD10 | Likely pathogenic | 3 | 167422663 | 167422663 | CA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_007217.4(PDCD10):c.150+1G>T | PDCD10 | Likely pathogenic | 3 | 167422629 | 167422629 | C | A | criteria provided, single submitter | - |