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_016239.4(MYO15A):c.8467G>A (p.Asp2823Asn)	MYO15A	Pathogenic	17	18059516	18059516	G	A	criteria provided, single submitter	ClinGen:CA10581514
single nucleotide variant	NM_022124.6(CDH23):c.2398-1G>T	CDH23	Pathogenic/Likely pathogenic	10	73461778	73461778	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5544221
single nucleotide variant	NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)	CDH23	Pathogenic	10	73565598	73565598	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581675
single nucleotide variant	NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)	MYO7A	Pathogenic	11	76885842	76885842	C	A	criteria provided, single submitter	ClinGen:CA10581681
single nucleotide variant	NM_000260.4(MYO7A):c.3628A>T (p.Lys1210Ter)	MYO7A	Pathogenic	11	76900513	76900513	A	T	criteria provided, single submitter	ClinGen:CA10581682
single nucleotide variant	NM_002764.4(PRPS1):c.319A>G (p.Ile107Val)	PRPS1	Likely pathogenic	X	106884144	106884144	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584629
single nucleotide variant	NM_002764.4(PRPS1):c.361G>A (p.Ala121Thr)	PRPS1	Likely pathogenic	X	106884186	106884186	G	A	criteria provided, single submitter	ClinGen:CA10584630
single nucleotide variant	NM_144672.4(OTOA):c.755G>A (p.Trp252Ter)	OTOA	Pathogenic/Likely pathogenic	16	21709111	21709111	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586024
single nucleotide variant	NM_004004.6(GJB2):c.193T>C (p.Tyr65His)	GJB2	Likely pathogenic	13	20763528	20763528	A	G	criteria provided, single submitter	ClinGen:CA10586212,OMIM:121011.0041
single nucleotide variant	NM_033109.5(PNPT1):c.1528G>C (p.Ala510Pro)	PNPT1	Pathogenic/Likely pathogenic	2	55874556	55874556	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586243,OMIM:610316.0012