遺伝性難聴 - MGenReviews

遺伝性難聴

小児・神経疾患

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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_001199107.2(TBC1D24):c.971C>A (p.Ser324Ter)	TBC1D24	Pathogenic	16	2547716	2547716	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter)	MYO15A	Pathogenic	17	18024533	18024533	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_016239.4(MYO15A):c.7012C>T (p.Gln2338Ter)	MYO15A	Pathogenic	17	18052585	18052585	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_016239.4(MYO15A):c.7495C>T (p.Gln2499Ter)	MYO15A	Likely pathogenic	17	18054445	18054445	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter)	TRIOBP	Pathogenic/Likely pathogenic	22	38120496	38120496	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001039141.3(TRIOBP):c.2968C>T (p.Arg990Ter)	TRIOBP	Pathogenic	22	38121531	38121531	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000307.5(POU3F4):c.385C>T (p.Gln129Ter)	POU3F4	Likely pathogenic	X	82763717	82763717	C	T	criteria provided, single submitter	-
Deletion	NM_006005.3(WFS1):c.439del (p.Arg147fs)	WFS1	Pathogenic	4	6290836	6290836	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138691.3(TMC1):c.885-2A>C	TMC1	Pathogenic	9	75403253	75403253	A	C	criteria provided, single submitter	-
Deletion	NM_002473.6(MYH9):c.5808del (p.Gly1938fs)	MYH9	Likely pathogenic	22	36678789	36678789	TC	T	criteria provided, single submitter	-