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.93C>A (p.Cys31Ter)	MYO7A	Pathogenic	11	76853829	76853829	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA277965,OMIM:276903.0013
single nucleotide variant	NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)	MYO7A	Pathogenic	11	76885862	76885862	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277967,OMIM:276903.0016
single nucleotide variant	NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile)	MYO7A	Pathogenic	11	76873195	76873195	A	T	criteria provided, single submitter	ClinGen:CA256098,UniProtKB:Q13402#VAR_027306,OMIM:276903.0015
single nucleotide variant	NM_000245.4(MET):c.3392T>C (p.Met1131Thr)	MET	Pathogenic	7	116418881	116418881	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256991,OMIM:164860.0001
single nucleotide variant	NM_000245.4(MET):c.3658G>A (p.Val1220Ile)	MET	Pathogenic/Likely pathogenic	7	116423383	116423383	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256997,OMIM:164860.0003
single nucleotide variant	NM_000245.4(MET):c.3281A>G (p.His1094Arg)	MET	Pathogenic	7	116417464	116417464	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA221506,OMIM:164860.0007
single nucleotide variant	NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)	MYH9	Pathogenic	22	36678800	36678800	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257082,OMIM:160775.0001
single nucleotide variant	NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)	MYH9	Pathogenic/Likely pathogenic	22	36680520	36680520	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257085,UniProtKB:P35579#VAR_010797,OMIM:160775.0002
single nucleotide variant	NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)	MYH9	Pathogenic	22	36691115	36691115	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257087,UniProtKB:P35579#VAR_010795,OMIM:160775.0003
single nucleotide variant	NM_002473.6(MYH9):c.279C>G (p.Asn93Lys)	MYH9	Pathogenic	22	36745003	36745003	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA257089,UniProtKB:P35579#VAR_010791,OMIM:160775.0004