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_004004.6(GJB2):c.72G>A (p.Trp24Ter)	GJB2	Pathogenic	13	20763649	20763649	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004004.6(GJB2):c.2T>G (p.Met1Arg)	GJB2	Likely pathogenic	13	20763719	20763719	A	C	criteria provided, single submitter	-
Duplication	NM_004004.6(GJB2):c.239dup (p.Leu81fs)	GJB2	Pathogenic/Likely pathogenic	13	20763481	20763482	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)	GJB2	Pathogenic/Likely pathogenic	13	20763627	20763627	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001384474.1(LOXHD1):c.4096-1G>C	LOXHD1	Likely pathogenic	18	44114415	44114415	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)	LOXHD1	Pathogenic/Likely pathogenic	18	44102147	44102147	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln)	CDC14A	Likely pathogenic	1	100933608	100933608	G	A	criteria provided, single submitter	OMIM:603504.0003
single nucleotide variant	NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly)	CDC14A	Pathogenic/Likely pathogenic	1	100933607	100933607	C	G	criteria provided, multiple submitters, no conflicts	OMIM:603504.0004
single nucleotide variant	NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter)	CDC14A	Pathogenic/Likely pathogenic	1	100949903	100949903	C	T	criteria provided, multiple submitters, no conflicts	OMIM:603504.0007
single nucleotide variant	NM_016239.4(MYO15A):c.7050C>A (p.Tyr2350Ter)	MYO15A	Likely pathogenic	17	18052623	18052623	C	A	criteria provided, single submitter	-