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_153700.2(STRC):c.3670C>T (p.Arg1224Ter)	STRC	Pathogenic	15	43900289	43900289	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273238
single nucleotide variant	NM_001256317.3(TMPRSS3):c.1189C>T (p.Gln397Ter)	TMPRSS3	Pathogenic	21	43796652	43796652	G	A	criteria provided, single submitter	ClinGen:CA273449
single nucleotide variant	NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu)	MYH9	Pathogenic	22	36685142	36685142	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273196
single nucleotide variant	NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter)	TRIOBP	Pathogenic	22	38165057	38165057	C	T	criteria provided, single submitter	ClinGen:CA273246
single nucleotide variant	NM_000307.5(POU3F4):c.968G>A (p.Arg323His)	POU3F4	Likely pathogenic	X	82764300	82764300	G	A	criteria provided, single submitter	ClinGen:CA185522
single nucleotide variant	NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg)	TMPRSS3	Likely pathogenic	21	43803197	43803197	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273548
Deletion	NM_001256317.3(TMPRSS3):c.208del (p.His70fs)	TMPRSS3	Pathogenic/Likely pathogenic	21	43809152	43809152	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273243,OMIM:605511.0006
Deletion	NM_000307.5(POU3F4):c.1086_*3del (p.Ter362TrpextTer?)	POU3F4	Likely pathogenic	X	82764415	82764418	TCTGA	T	criteria provided, single submitter	ClinGen:CA273213
Deletion	NM_016239.4(MYO15A):c.5851del (p.Ser1951fs)	MYO15A	Pathogenic	17	18046095	18046095	GA	G	criteria provided, single submitter	ClinGen:CA273639
single nucleotide variant	NM_016239.4(MYO15A):c.6610C>T (p.Arg2204Cys)	MYO15A	Likely pathogenic	17	18051443	18051443	C	T	criteria provided, single submitter	ClinGen:CA177239