single nucleotide variant | NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys) | KCNJ10 | Likely pathogenic | 1 | 160012130 | 160012130 | G | A | criteria provided, single submitter | ClinGen:CA129068,OMIM:602208.0010 |
single nucleotide variant | NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) | CIB2 | Likely pathogenic | 15 | 78401651 | 78401651 | A | G | criteria provided, single submitter | ClinGen:CA130456,UniProtKB:O75838#VAR_069087,OMIM:605564.0001 |
single nucleotide variant | NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val) | MYO7A | Likely pathogenic | 11 | 76873192 | 76873192 | C | T | criteria provided, single submitter | ClinGen:CA278624,UniProtKB:Q13402#VAR_024046 |
single nucleotide variant | NM_000260.4(MYO7A):c.1690+1G>A | MYO7A | Likely pathogenic | 11 | 76874035 | 76874035 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278631 |
Duplication | NM_000260.4(MYO7A):c.1833_1838dup (p.Ser612_Gln613insHisSer) | MYO7A | Likely pathogenic | 11 | 76883828 | 76883829 | G | GCAGCCA | criteria provided, single submitter | ClinGen:CA278632 |
single nucleotide variant | NM_000260.4(MYO7A):c.19-1G>A | MYO7A | Likely pathogenic | 11 | 76853754 | 76853754 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278634 |
Insertion | NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs) | MYO7A | Likely pathogenic | 11 | 76885818 | 76885819 | T | TAG | criteria provided, single submitter | ClinGen:CA278637 |
single nucleotide variant | NM_000260.4(MYO7A):c.2094+1G>C | MYO7A | Likely pathogenic | 11 | 76885961 | 76885961 | G | C | criteria provided, single submitter | ClinGen:CA278643 |
single nucleotide variant | NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) | MYO7A | Likely pathogenic | 11 | 76890971 | 76890971 | G | A | reviewed by expert panel | ClinGen:CA132255 |
single nucleotide variant | NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) | MYO7A | Likely pathogenic | 11 | 76892635 | 76892635 | G | T | reviewed by expert panel | ClinGen:CA278647,UniProtKB:Q13402#VAR_024049 |