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_001199107.2(TBC1D24):c.691_700delinsCTT (p.Val231fs)	TBC1D24	Pathogenic	16	2546840	2546849	GTCTTCCTGG	CTT	criteria provided, single submitter	ClinGen:CA319071
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.725G>A (p.Arg242His)	TBC1D24	Pathogenic	16	2546874	2546874	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val)	TBC1D24	Likely pathogenic	16	2547015	2547015	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA394377660
single nucleotide variant	NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His)	TBC1D24	Pathogenic	16	2547068	2547068	A	C	criteria provided, single submitter	ClinGen:CA394377931
single nucleotide variant	NM_001199107.2(TBC1D24):c.971C>A (p.Ser324Ter)	TBC1D24	Pathogenic	16	2547716	2547716	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001199107.2(TBC1D24):c.983+2T>C	TBC1D24	Likely pathogenic	16	2547730	2547730	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe)	TBC1D24	Pathogenic	16	2548254	2548254	G	T	criteria provided, single submitter	ClinGen:CA347141,UniProtKB:Q9ULP9#VAR_070916
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
single nucleotide variant	NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His)	TBC1D24	Likely pathogenic	16	2548334	2548334	G	A	criteria provided, single submitter	OMIM:613577.0016