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_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)	MYO7A	Pathogenic/Likely pathogenic	11	76905429	76905430	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.4569-1G>A	MYO7A	Likely pathogenic	11	76910579	76910579	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000260.4(MYO7A):c.5229del (p.Leu1744fs)	MYO7A	Likely pathogenic	11	76914164	76914164	CG	C	criteria provided, single submitter	-
Deletion	NM_000260.4(MYO7A):c.5543del (p.Asn1848fs)	MYO7A	Pathogenic/Likely pathogenic	11	76916568	76916568	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)	MYO7A	Pathogenic	11	76916607	76916607	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.5857-2A>G	MYO7A	Likely pathogenic	11	76919473	76919473	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer)	MYO7A	Likely pathogenic	11	76866980	76866980	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.6051+1G>A	MYO7A	Pathogenic/Likely pathogenic	11	76919849	76919849	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.471-1G>A	MYO7A	Likely pathogenic	11	76867705	76867705	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)	MYO7A	Pathogenic/Likely pathogenic	11	76871318	76871318	C	A	criteria provided, multiple submitters, no conflicts	-