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
Duplication	NM_001128228.3(TPRN):c.1964dup (p.Gly656fs)	TPRN	Likely pathogenic	9	140086904	140086905	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_138691.3(TMC1):c.1534C>T (p.Arg512Ter)	TMC1	Pathogenic	9	75407236	75407236	C	T	criteria provided, single submitter	-
Duplication	NM_001384474.1(LOXHD1):c.4683dup (p.Arg1562fs)	LOXHD1	Pathogenic	18	44104727	44104728	G	GC	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer)	COL11A1	Pathogenic/Likely pathogenic	1	103488352	103488353	A	AG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001378609.3(OTOGL):c.1711+1G>A	OTOGL	Likely pathogenic	12	80650241	80650241	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001614.5(ACTG1):c.847A>G (p.Met283Val)	ACTG1	Likely pathogenic	17	79478090	79478090	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.4442-1G>C	MYO7A	Pathogenic/Likely pathogenic	11	76909539	76909539	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_080680.3(COL11A2):c.982C>T (p.Gln328Ter)	COL11A2	Likely pathogenic	6	33152059	33152059	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln)	OTOF	Pathogenic	2	26681086	26681086	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000441.2(SLC26A4):c.737del (p.Asn246fs)	SLC26A4	Pathogenic/Likely pathogenic	7	107315522	107315522	CA	C	criteria provided, multiple submitters, no conflicts	-