Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_194454.3(KRIT1):c.990-1G>A | KRIT1 | Likely pathogenic | 7 | 91855997 | 91855997 | C | T | criteria provided, single submitter | ClinGen:CA368153920 |
Deletion | NM_194454.3(KRIT1):c.1146+3_1146+4del | KRIT1 | Likely pathogenic | 7 | 91855836 | 91855837 | CTT | C | criteria provided, single submitter | ClinGen:CA658796966 |
single nucleotide variant | NM_031443.4(CCM2):c.635T>C (p.Leu212Pro) | CCM2 | Likely pathogenic | 7 | 45109450 | 45109450 | T | C | criteria provided, single submitter | ClinGen:CA367430545 |
single nucleotide variant | NM_031443.4(CCM2):c.31-2A>G | CCM2 | Likely pathogenic | 7 | 45077850 | 45077850 | A | G | criteria provided, single submitter | ClinGen:CA367426497 |
Duplication | NC_000007.13:g.(?_91864697)_(91867093_?)dup | KRIT1 | Likely pathogenic | 7 | 91864697 | 91867093 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_194454.3(KRIT1):c.730G>T (p.Val244Leu) | KRIT1 | Likely pathogenic | 7 | 91864237 | 91864237 | C | A | criteria provided, single submitter | ClinGen:CA368159083 |
single nucleotide variant | NM_194454.3(KRIT1):c.1579G>A (p.Ala527Thr) | KRIT1 | Likely pathogenic | 7 | 91844076 | 91844076 | C | T | criteria provided, single submitter | ClinGen:CA368142537 |
single nucleotide variant | NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly) | KRIT1 | Likely pathogenic | 7 | 91865802 | 91865802 | T | C | criteria provided, single submitter | ClinGen:CA253586,OMIM:604214.0008 |