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_004004.6(GJB2):c.526A>G (p.Asn176Asp)	GJB2	Pathogenic/Likely pathogenic	13	20763195	20763195	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)	GJB2	Pathogenic	13	20763205	20763205	C	G	reviewed by expert panel	-
single nucleotide variant	NM_000441.2(SLC26A4):c.1708-1G>A	SLC26A4	Likely pathogenic	7	107341545	107341545	G	A	criteria provided, single submitter	-
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	-
Duplication	NM_004817.4(TJP2):c.84dup (p.Trp29fs)	TJP2	Pathogenic	9	71827486	71827487	T	TA	criteria provided, single submitter	-
Duplication	NM_016356.5(DCDC2):c.293dup (p.Asn98fs)	DCDC2	Pathogenic	6	24357685	24357686	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_144991.3(TSPEAR):c.942C>G (p.Tyr314Ter)	TSPEAR	Likely pathogenic	21	45947382	45947382	G	C	criteria provided, single submitter	-
Deletion	NM_005422.4(TECTA):c.730_737del (p.Arg244fs)	TECTA	Pathogenic	11	120984364	120984371	AGGCCGCTG	A	criteria provided, single submitter	-
single nucleotide variant	NM_031475.3(ESPN):c.264G>A (p.Trp88Ter)	ESPN	Pathogenic	1	6485279	6485279	G	A	criteria provided, single submitter	-