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_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter)	TBC1D24	Pathogenic	16	2546495	2546495	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His)	TBC1D24	Pathogenic	16	2546588	2546588	G	C	criteria provided, single submitter	ClinGen:CA339785,UniProtKB:Q9ULP9#VAR_064365,OMIM:613577.0001
single nucleotide variant	NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter)	TBC1D24	Pathogenic	16	2546591	2546591	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001199107.2(TBC1D24):c.475del (p.Leu159fs)	TBC1D24	Pathogenic/Likely pathogenic	16	2546623	2546623	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA319047
single nucleotide variant	NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter)	TBC1D24	Pathogenic/Likely pathogenic	16	2546632	2546632	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7844009
single nucleotide variant	NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)	TBC1D24	Pathogenic	16	2546682	2546682	C	T	criteria provided, single submitter	ClinGen:CA156356,UniProtKB:Q9ULP9#VAR_072107,OMIM:613577.0014
Deletion	NM_001199107.2(TBC1D24):c.557del (p.Leu186fs)	TBC1D24	Pathogenic	16	2546706	2546706	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA620709065
single nucleotide variant	NM_001199107.2(TBC1D24):c.619C>T (p.Gln207Ter)	TBC1D24	Pathogenic	16	2546768	2546768	C	T	criteria provided, single submitter	ClinGen:CA7844031
single nucleotide variant	NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu)	TBC1D24	Pathogenic/Likely pathogenic	16	2546829	2546829	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA319035
single nucleotide variant	NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser)	TBC1D24	Pathogenic	16	2546835	2546835	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA344789,UniProtKB:Q9ULP9#VAR_070102,OMIM:613577.0005