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
Deletion	NM_022124.6(CDH23):c.6831del (p.Lys2278fs)	CDH23	Pathogenic/Likely pathogenic	10	73558111	73558111	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005709.4(USH1C):c.1270G>T (p.Glu424Ter)	USH1C	Pathogenic	11	17538962	17538962	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter)	USH1C	Pathogenic	11	17542493	17542493	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.4248C>A (p.Tyr1416Ter)	MYO7A	Likely pathogenic	11	76905494	76905494	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76914151	76914151	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000260.4(MYO7A):c.6044_6047dup (p.Tyr2016Ter)	MYO7A	Pathogenic	11	76919840	76919841	T	TATTA	criteria provided, single submitter	-
Deletion	NM_000260.4(MYO7A):c.6196del (p.Gln2066fs)	MYO7A	Pathogenic	11	76922338	76922338	GC	G	criteria provided, single submitter	-
Deletion	NM_004004.6(GJB2):c.576del (p.Val193fs)	GJB2	Pathogenic/Likely pathogenic	13	20763145	20763145	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His)	TBC1D24	Pathogenic	16	2546874	2546874	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001384474.1(LOXHD1):c.5963G>A (p.Trp1988Ter)	LOXHD1	Pathogenic	18	44069021	44069021	C	T	criteria provided, single submitter	-