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_194248.3(OTOF):c.2443del (p.Gln815fs)	OTOF	Pathogenic	2	26700120	26700120	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_004004.6(GJB2):c.158G>T (p.Cys53Phe)	GJB2	Likely pathogenic	13	20763563	20763563	C	A	criteria provided, single submitter	-
Deletion	NM_033109.5(PNPT1):c.420del (p.Leu141fs)	PNPT1	Likely pathogenic	2	55910953	55910953	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_001854.4(COL11A1):c.3647G>A (p.Gly1216Asp)	COL11A1	Likely pathogenic	1	103388899	103388899	C	T	criteria provided, single submitter	-
Deletion	NM_001854.4(COL11A1):c.867del (p.Thr289_Val290insTer)	COL11A1	Likely pathogenic	1	103491802	103491802	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_002906.4(RDX):c.551+2T>C	RDX	Pathogenic	11	110128829	110128829	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_003672.4(CDC14A):c.417C>G (p.Tyr139Ter)	CDC14A	Pathogenic	1	100905515	100905515	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_003672.4(CDC14A):c.959A>C (p.Gln320Pro)	CDC14A	Likely pathogenic	1	100933632	100933632	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001243133.2(NLRP3):c.1976T>G (p.Met659Arg)	NLRP3	Likely pathogenic	1	247588727	247588727	T	G	criteria provided, single submitter	-
Duplication	NM_005612.5(REST):c.265dup (p.Glu89fs)	REST	Pathogenic	4	57777068	57777069	A	AG	criteria provided, single submitter	-