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
Indel	NM_194248.3(OTOF):c.2905_2923delinsCTCCGAGCGCA (p.Ala969fs)	OTOF	Likely pathogenic	2	26698850	26698868	CGGCAAAGAGGCTGCGGGC	TGCGCTCGGAG	criteria provided, single submitter	ClinGen:CA345111
single nucleotide variant	NM_194248.3(OTOF):c.3239G>C (p.Arg1080Pro)	OTOF	Likely pathogenic	2	26697430	26697430	C	G	criteria provided, single submitter	ClinGen:CA345113
single nucleotide variant	NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter)	OTOF	Pathogenic	2	26696867	26696867	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345117
single nucleotide variant	NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter)	OTOF	Pathogenic	2	26689599	26689599	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345125
single nucleotide variant	NM_194248.3(OTOF):c.5567G>A (p.Arg1856Gln)	OTOF	Pathogenic	2	26683865	26683865	C	T	criteria provided, single submitter	ClinGen:CA345139
Duplication	NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)	OTOF	Pathogenic/Likely pathogenic	2	26683527	26683528	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA345141
single nucleotide variant	NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	TBC1D24	Pathogenic/Likely pathogenic	16	2546873	2546873	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA319025,UniProtKB:Q9ULP9#VAR_070915,OMIM:613577.0007
single nucleotide variant	NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys)	TBC1D24	Pathogenic	16	2546267	2546267	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345418,UniProtKB:Q9ULP9#VAR_070913,OMIM:613577.0008
single nucleotide variant	NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu)	TBC1D24	Pathogenic	16	2546207	2546207	C	G	criteria provided, single submitter	ClinGen:CA266220,UniProtKB:Q9ULP9#VAR_070912,OMIM:613577.0009
Deletion	NM_001199107.2(TBC1D24):c.1008del (p.His336fs)	TBC1D24	Pathogenic	16	2548263	2548263	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA319081,OMIM:613577.0010