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.6070C>T (p.Arg2024Ter)	MYO7A	Pathogenic	11	76922215	76922215	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278705
single nucleotide variant	NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)	MYO7A	Likely pathogenic	11	76867946	76867946	A	G	reviewed by expert panel	ClinGen:CA278707
single nucleotide variant	NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)	MYO7A	Pathogenic	11	76867955	76867955	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278709,UniProtKB:Q13402#VAR_009320
single nucleotide variant	NM_000260.4(MYO7A):c.6439-2A>G	MYO7A	Pathogenic/Likely pathogenic	11	76924903	76924903	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278710
single nucleotide variant	NM_000260.4(MYO7A):c.6498C>A (p.Tyr2166Ter)	MYO7A	Pathogenic	11	76924964	76924964	C	A	criteria provided, single submitter	ClinGen:CA278711
single nucleotide variant	NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)	MYO7A	Likely pathogenic	11	76925653	76925653	G	A	reviewed by expert panel	ClinGen:CA278713,UniProtKB:Q13402#VAR_024055
single nucleotide variant	NM_000260.4(MYO7A):c.722G>A (p.Arg241His)	MYO7A	Pathogenic/Likely pathogenic	11	76868037	76868037	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278714
single nucleotide variant	NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)	MYO7A	Pathogenic	11	76869472	76869472	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278716
single nucleotide variant	NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter)	POU3F4	Pathogenic/Likely pathogenic	X	82763673	82763673	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261362
single nucleotide variant	NM_000307.5(POU3F4):c.499C>T (p.Arg167Ter)	POU3F4	Pathogenic	X	82763831	82763831	C	T	criteria provided, single submitter	ClinGen:CA261364