Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_194454.3(KRIT1):c.1742_1748dup (p.Ile584fs) | KRIT1 | Pathogenic | 7 | 91843275 | 91843276 | G | GGATTTTA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_194454.3(KRIT1):c.1558A>T (p.Lys520Ter) | KRIT1 | Pathogenic | 7 | 91851221 | 91851221 | T | A | criteria provided, single submitter | - |
Deletion | NM_194454.3(KRIT1):c.1342del (p.Met448fs) | KRIT1 | Pathogenic | 7 | 91852205 | 91852205 | AT | A | criteria provided, single submitter | - |
Duplication | NM_194454.3(KRIT1):c.810dup (p.Trp271fs) | KRIT1 | Pathogenic | 7 | 91864156 | 91864157 | A | AT | criteria provided, single submitter | - |
Deletion | NM_194454.3(KRIT1):c.747_750del (p.Asn250fs) | KRIT1 | Pathogenic | 7 | 91864217 | 91864220 | GATTT | G | criteria provided, single submitter | - |
Duplication | NM_194454.3(KRIT1):c.659dup (p.Leu220fs) | KRIT1 | Pathogenic | 7 | 91864786 | 91864787 | T | TA | criteria provided, single submitter | - |
Deletion | NC_000003.12:g.(?_167684288)_(167720177_?)del | PDCD10 | Pathogenic | 3 | 167402076 | 167437965 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_031443.4(CCM2):c.745+1G>C | CCM2 | Pathogenic | 7 | 45109561 | 45109561 | G | C | criteria provided, single submitter | - |