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_015404.4(WHRN):c.26C>A (p.Ser9Ter)	WHRN	Pathogenic	9	117267056	117267056	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)	CDH23	Likely pathogenic	10	73569774	73569774	G	T	criteria provided, single submitter	-
Duplication	NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter)	GJB2	Pathogenic/Likely pathogenic	13	20763115	20763116	G	GCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.1798-1G>T	MYO7A	Likely pathogenic	11	76883793	76883793	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.6237+1G>A	MYO7A	Likely pathogenic	11	76922383	76922383	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_016239.4(MYO15A):c.6177+1G>T	MYO15A	Pathogenic	17	18047315	18047315	G	T	criteria provided, multiple submitters, no conflicts	-
Inversion	NM_005219.5(DIAPH1):c.3575-50_3661+36inv	DIAPH1	Likely pathogenic	5	140903674	140903846	TTCGACACCCAGGATGAGCTCCATGTGCTTACTTACCTTGACGGGGCCCTCTCTTCCGTCGGAATGCTGCCCCTGACTGCAGGGCTTCTAGAAGACTGTCCATCACACCTGTCTCATCGCCCTCTGTTATAAAGAACAAGATGGAGATGTGAACTCTTCAGCCAGAGCAGCAT	ATGCTGCTCTGGCTGAAGAGTTCACATCTCCATCTTGTTCTTTATAACAGAGGGCGATGAGACAGGTGTGATGGACAGTCTTCTAGAAGCCCTGCAGTCAGGGGCAGCATTCCGACGGAAGAGAGGGCCCCGTCAAGGTAAGTAAGCACATGGAGCTCATCCTGGGTGTCGAA	criteria provided, single submitter	-
single nucleotide variant	NM_194248.3(OTOF):c.3409-2A>C	OTOF	Likely pathogenic	2	26696437	26696437	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter)	TJP2	Pathogenic	9	71851057	71851057	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys)	MYO7A	Pathogenic/Likely pathogenic	11	76915228	76915228	G	A	criteria provided, multiple submitters, no conflicts	-