遺伝性難聴 - MGenReviews

遺伝性難聴

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_022124.6(CDH23):c.8222C>A (p.Ser2741Ter)	CDH23	Pathogenic	10	73567077	73567077	C	A	criteria provided, single submitter	ClinGen:CA377130937
single nucleotide variant	NM_005422.4(TECTA):c.3156G>A (p.Trp1052Ter)	TECTA	Likely pathogenic	11	121008344	121008344	G	A	criteria provided, single submitter	ClinGen:CA383019072
single nucleotide variant	NM_001292063.2(OTOG):c.1005C>G (p.Tyr335Ter)	OTOG	Likely pathogenic	11	17580093	17580093	C	G	criteria provided, single submitter	ClinGen:CA379815672
single nucleotide variant	NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter)	OTOG	Pathogenic	11	17618536	17618536	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5905758
single nucleotide variant	NM_001292063.2(OTOG):c.5056C>T (p.Gln1686Ter)	OTOG	Pathogenic	11	17631903	17631903	C	T	criteria provided, single submitter	ClinGen:CA218476029
single nucleotide variant	NM_000260.4(MYO7A):c.285+2T>C	MYO7A	Pathogenic/Likely pathogenic	11	76858998	76858998	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6197083
single nucleotide variant	NM_144672.4(OTOA):c.92-1G>T	OTOA	Pathogenic	16	21690235	21690235	G	T	criteria provided, single submitter	ClinGen:CA7952169
single nucleotide variant	NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter)	TBC1D24	Pathogenic/Likely pathogenic	16	2546632	2546632	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7844009
single nucleotide variant	NM_016239.4(MYO15A):c.10018C>T (p.Gln3340Ter)	MYO15A	Pathogenic	17	18070973	18070973	C	T	criteria provided, single submitter	ClinGen:CA398642874
single nucleotide variant	NM_001384474.1(LOXHD1):c.2598+1G>C	LOXHD1	Likely pathogenic	18	44143027	44143027	C	G	criteria provided, single submitter	ClinGen:CA402372175