single nucleotide variant | NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) | GPSM2 | Pathogenic/Likely pathogenic | 1 | 109466682 | 109466682 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA129927,OMIM:609245.0005 |
Deletion | NM_013296.5(GPSM2):c.742del (p.Gly249fs) | GPSM2 | Pathogenic/Likely pathogenic | 1 | 109441560 | 109441560 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA213046,OMIM:609245.0004 |
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_001854.4(COL11A1):c.3943G>T (p.Gly1315Ter) | COL11A1 | Pathogenic | 1 | 103379943 | 103379943 | C | A | criteria provided, single submitter | OMIM:120280.0011 |
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_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.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.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_024009.3(GJB3):c.35G>A (p.Gly12Asp) | GJB3 | Pathogenic | 1 | 35250398 | 35250398 | G | A | criteria provided, single submitter | ClinGen:CA118303,UniProtKB:O75712#VAR_002147,OMIM:603324.0002 |
single nucleotide variant | NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) | KCNQ4 | Pathogenic | 1 | 41285554 | 41285554 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA340537,UniProtKB:P56696#VAR_010937,OMIM:603537.0006 |