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_000260.4(MYO7A):c.5481-1G>C	MYO7A	Likely pathogenic	11	76916506	76916506	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_153676.4(USH1C):c.2490+2T>C	USH1C	Likely pathogenic	11	17519707	17519707	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_153676.4(USH1C):c.2490+1G>T	USH1C	Likely pathogenic	11	17519708	17519708	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_153676.4(USH1C):c.2281-2A>G	USH1C	Likely pathogenic	11	17522699	17522699	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_153676.4(USH1C):c.2280+2T>C	USH1C	Likely pathogenic	11	17523027	17523027	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_153676.4(USH1C):c.2185-2A>G	USH1C	Likely pathogenic	11	17523529	17523529	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)	MYO7A	Pathogenic/Likely pathogenic	11	76841683	76841683	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.133-2A>G	MYO7A	Pathogenic	11	76858842	76858842	A	G	criteria provided, multiple submitters, no conflicts	OMIM:276903.0008
Duplication	NM_000260.4(MYO7A):c.224dup (p.Asp75fs)	MYO7A	Pathogenic/Likely pathogenic	11	76858934	76858935	G	GA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.285+2T>G	MYO7A	Pathogenic/Likely pathogenic	11	76858998	76858998	T	G	criteria provided, multiple submitters, no conflicts	-