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
Deletion	NM_000260.4(MYO7A):c.1563del (p.Asp521fs)	MYO7A	Pathogenic/Likely pathogenic	11	76873907	76873907	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619410
single nucleotide variant	NM_000260.4(MYO7A):c.2219G>C (p.Arg740Pro)	MYO7A	Likely pathogenic	11	76888626	76888626	G	C	criteria provided, single submitter	ClinGen:CA16619411
Deletion	NM_000260.4(MYO7A):c.3064_3067del (p.Leu1022fs)	MYO7A	Likely pathogenic	11	76893154	76893157	CCACT	C	criteria provided, single submitter	ClinGen:CA645509491
single nucleotide variant	NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu)	MYO7A	Likely pathogenic	11	76901162	76901162	C	T	criteria provided, single submitter	ClinGen:CA6198178
single nucleotide variant	NM_024678.6(NARS2):c.631T>A (p.Phe211Ile)	NARS2	Likely pathogenic	11	78239946	78239946	A	T	criteria provided, single submitter	ClinGen:CA6205769,OMIM:612803.0007
Deletion	NM_024678.6(NARS2):c.124del (p.Glu42fs)	NARS2	Likely pathogenic	11	78285410	78285410	TC	T	criteria provided, single submitter	ClinGen:CA16619412
single nucleotide variant	NM_001378609.3(OTOGL):c.2853C>G (p.Tyr951Ter)	OTOGL	Likely pathogenic	12	80672871	80672871	C	G	criteria provided, single submitter	ClinGen:CA6700912
Deletion	NM_001378609.3(OTOGL):c.3760del (p.Tyr1254fs)	OTOGL	Likely pathogenic	12	80712445	80712445	AT	A	criteria provided, single submitter	ClinGen:CA16619591
single nucleotide variant	NM_001378609.3(OTOGL):c.5743C>T (p.Arg1915Ter)	OTOGL	Pathogenic/Likely pathogenic	12	80749665	80749665	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619593
single nucleotide variant	NM_005982.4(SIX1):c.329G>A (p.Arg110Gln)	SIX1	Pathogenic	14	61115579	61115579	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619881