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	NC_000016.10:g.(?_2496129)_(2500978_?)del	TBC1D24	Pathogenic	16	2546130	2550979	na	na	criteria provided, single submitter	-
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
single nucleotide variant	NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter)	TBC1D24	Pathogenic	16	2546207	2546207	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7843914
single nucleotide variant	NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val)	TBC1D24	Pathogenic	16	2546265	2546265	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7843924
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.119G>T (p.Arg40Leu)	TBC1D24	Pathogenic/Likely pathogenic	16	2546268	2546268	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347136
single nucleotide variant	NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)	TBC1D24	Pathogenic	16	2546270	2546270	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608135
single nucleotide variant	NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter)	TBC1D24	Pathogenic	16	2546280	2546280	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer)	TBC1D24	Pathogenic	16	2546320	2546320	GC	G	criteria provided, single submitter	ClinGen:CA620709056
single nucleotide variant	NM_001199107.2(TBC1D24):c.192C>A (p.Cys64Ter)	TBC1D24	Likely pathogenic	16	2546341	2546341	C	A	criteria provided, single submitter	ClinGen:CA16620168