Database of Pathogenic Variants

Disease Name

Partial deafness
MedGen:C0018772

Associated Genes and Variants

POU3F4	NM_000307.4:c.731dupA
TRIOBP	NM_001039141.2:c.709C>T NM_001039141.2:c.951G>T
USH1C	NM_005709:c.464G>C
ACTG1	NM_001614.4:c.353A>T NM_001614.4:c.485C>T NM_001614.4:c.721G>A NM_001614.4:c.802G>A NM_001614.4:c.895C>G
ADGRV1	NM_032119.3:c.16607_16611+3delCCCAGGTA NM_032119:c.11954T>C NM_032119:c.9464C>A
CDH23	NM_001171930:c.2005C>T NM_001171930:c.2866G>A NM_001171930:c.4103C>T NM_001171930:c.719C>T NM_001171933.1:c.1610T>C NM_001171933.1:c.698T>C NM_022124.5:c.1616G>A NM_022124.5:c.1934A>G NM_022124.5:c.4249C>T NM_022124.5:c.4762C>T NM_022124.5:c.5147A>C NM_022124.5:c.6085C>T NM_022124.5:c.6655G>A NM_022124.5:c.6667delC NM_022124.5:c.6861T>G NM_022124.5:c.7312G>A NM_022124.5:c.9129delG NM_052836:c.719C>T NM_052836:c.902G>A
CLRN1	NM_001195794:c.9C>A
COCH	NM_004086:c.1115T>C NM_004086:c.1624T>C NM_004086:c.263G>A NM_004086:c.355G>A
COL11A2	NM_080680.2:c.688G>T
CRYM	NM_001888:c.941A>C NM_001888:c.945A>T
GJB2	NM_004004.5:c.134G>A NM_004004.5:c.179G>A NM_004004.5:c.189G>T NM_004004.5:c.212T>C NM_004004.5:c.235delC NM_004004.5:c.23C>T NM_004004.5:c.318C>A NM_004004.5:c.380G>A NM_004004.5:c.408C>A NM_004004.5:c.427C>T NM_004004.5:c.508_511dupAACG NM_004004.5:c.571T>C NM_004004:c.109G>A NM_004004:c.134G>A NM_004004:c.146C>T NM_004004:c.161A>G NM_004004:c.203A>G NM_004004:c.212T>C NM_004004:c.217C>T NM_004004:c.23C>T NM_004004:c.257C>G NM_004004:c.279G>A NM_004004:c.317T>A NM_004004:c.335A>T NM_004004:c.398G>A NM_004004:c.401G>A NM_004004:c.408C>A NM_004004:c.427C>T NM_004004:c.521G>C NM_004004:c.571T>C NM_004004:c.583A>G NM_004004:c.98T>A
GJB3	NM_001005752:c.250G>A NM_001005752:c.580G>A
LOXHD1	NM_001145472.2:c.1324G>A NM_001145472.2:c.524G>T NM_001145472.2:c.757G>A NM_001145472.2:c.879+1G>A NM_144612:c.2174A>G
MYO3A	NM_017433:c.1324C>A NM_017433:c.610G>A
MYO6	NM_004999.3:c.2111G>A NM_004999.3:c.2467delA NM_004999.3:c.2998C>T
MYO7A	NM_000260.3:c.6235C>T NM_000260.3:c.6558+1G>C
MYO15A	NM_016239.3:c.2336C>A NM_016239.3:c.419delA NM_016239.3:c.6486delG NM_016239.3:c.8065T>C NM_016239:c.4322G>T NM_016239:c.5117G>T NM_016239:c.6457delG NM_016239:c.9413T>A
MYH14	NM_001077186.1:c.5285G>A
OTOF	NM_194248.2:c.1292G>T NM_194248.2:c.951C>G NM_194248:c.1273C>T NM_194248:c.1422T>A NM_194248:c.157G>A NM_194248:c.1621G>A NM_194248:c.2151G>A NM_194248:c.3192C>G NM_194248:c.4103C>G NM_194248:c.4748G>A NM_194248:c.5466C>G NM_194248:c.5524G>A NM_194248:c.5567G>A NM_194248:c.5713-2A>G NM_194248:c.5816G>A NM_194248:c.897+5G>A
KCNQ4	NM_004700.3:c.211delC NM_004700:c.2014G>A NM_004700:c.689T>A NM_004700:c.808T>C NM_004700:c.827G>C NM_004700:c.871C>T NM_004700:c.872C>T NM_004700:c.891G>T
PCDH15	NM_001142763.1:c.4174T>C NM_033056.3:c.3466G>A NM_033056.3:c.4766delC NM_033056.3:c.5241T>A
P2RX2	NM_012226:c.601G>T
SLC26A4	NM_000441.1:c.1001+1G>A NM_000441.1:c.1105A>G NM_000441.1:c.1115C>T NM_000441.1:c.1174A>T NM_000441.1:c.1187G>A NM_000441.1:c.1229C>T NM_000441.1:c.1300G>A NM_000441.1:c.1315G>A NM_000441.1:c.1343C>T NM_000441.1:c.1579A>C NM_000441.1:c.1586T>G NM_000441.1:c.1595G>T NM_000441.1:c.1694G>A NM_000441.1:c.1743G>C NM_000441.1:c.1829C>A NM_000441.1:c.1970G>A NM_000441.1:c.1975G>C NM_000441.1:c.1997C>T NM_000441.1:c.2007C>A NM_000441.1:c.2106_2107insGCTGG NM_000441.1:c.2162C>T NM_000441.1:c.2167C>T NM_000441.1:c.2168A>G NM_000441.1:c.226C>T NM_000441.1:c.281C>T NM_000441.1:c.367C>T NM_000441.1:c.416-1G>A NM_000441.1:c.439A>G NM_000441.1:c.587T>A NM_000441.1:c.600+1G>T NM_000441.1:c.601-1G>A NM_000441.1:c.890C>A NM_000441.1:c.919-2A>G
TECTA	NM_005422.2:c.1899C>A NM_005422.2:c.2087G>C NM_005422.2:c.3850C>T NM_005422.2:c.65-3C>T NM_005422:c.1471C>T NM_005422:c.1685C>T NM_005422:c.5317C>T NM_005422:c.5372C>G NM_005422:c.5597C>T NM_005422:c.589G>A NM_005422:c.5990T>C NM_005422:c.6062G>A
TMC1	NM_138691.2:c.1627G>A
TMPRSS3	NM_024022.2:c.239G>A NM_024022.2:c.607C>T NM_032404:c.778G>A NM_032405:c.316C>T NM_032405:c.325C>T NM_032405:c.554A>T NM_032405:c.771C>G NM_032405:c.916G>A
USH2A	NM_206933.2:c.57_58delGT NM_206933:c.13478G>A NM_206933:c.6628C>G NM_206933:c.6683T>A NM_206933:c.8342C>T
WFS1	NM_001145853.1:c.1234G>C NM_001145853.1:c.1235T>C NM_006005.3:c.2590G>A NM_006005.3:c.908T>C NM_006005:c.1669C>T NM_006005:c.1846G>T NM_006005:c.1871T>C NM_006005:c.1901A>C NM_006005:c.2033G>T NM_006005:c.2146G>A NM_006005:c.2185G>A NM_006005:c.2590G>A

Disease Detail