single nucleotide variant | NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys) | TECTA | Pathogenic/Likely pathogenic | 11 | 121038844 | 121038844 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA254071,UniProtKB:O75443#VAR_066094,OMIM:602574.0010 |
single nucleotide variant | NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) | KCNJ10 | Pathogenic/Likely pathogenic | 1 | 160011728 | 160011728 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA118808,OMIM:602208.0002 |
single nucleotide variant | NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val) | KCNJ10 | Pathogenic | 1 | 160011823 | 160011823 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA118812,UniProtKB:P78508#VAR_063063,OMIM:602208.0005 |
single nucleotide variant | NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys) | KCNJ10 | Pathogenic/Likely pathogenic | 1 | 160011434 | 160011434 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA118813,UniProtKB:P78508#VAR_063064,OMIM:602208.0006 |
single nucleotide variant | NM_002241.5(KCNJ10):c.229G>C (p.Gly77Arg) | KCNJ10 | Likely pathogenic | 1 | 160012094 | 160012094 | C | G | criteria provided, single submitter | ClinGen:CA118814,UniProtKB:P78508#VAR_063060,OMIM:602208.0007 |
single nucleotide variant | NM_005219.5(DIAPH1):c.3661+1G>T | DIAPH1 | Pathogenic | 5 | 140903709 | 140903709 | C | A | criteria provided, single submitter | OMIM:602121.0001 |
single nucleotide variant | NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) | SIX1 | Pathogenic/Likely pathogenic | 14 | 61115522 | 61115522 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA254381,UniProtKB:Q15475#VAR_031025,OMIM:601205.0001 |
single nucleotide variant | NM_005982.4(SIX1):c.328C>T (p.Arg110Trp) | SIX1 | Pathogenic | 14 | 61115580 | 61115580 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA340772,UniProtKB:Q15475#VAR_031024,OMIM:601205.0002 |
single nucleotide variant | NM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter) | MYO6 | Pathogenic | 6 | 76623836 | 76623836 | C | T | criteria provided, single submitter | ClinGen:CA254505,OMIM:600970.0003 |
single nucleotide variant | NM_004999.4(MYO6):c.737A>G (p.His246Arg) | MYO6 | Pathogenic/Likely pathogenic | 6 | 76551016 | 76551016 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA119764,OMIM:600970.0005 |