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.3460C>T (p.Arg1154Ter)	STRC	Pathogenic/Likely pathogenic	15	43902548	43902548	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)	CDH23	Pathogenic/Likely pathogenic	10	73550922	73550922	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter)	COL11A1	Pathogenic	1	103377717	103377717	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_057176.3(BSND):c.262G>T (p.Glu88Ter)	BSND	Pathogenic	1	55470779	55470779	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194248.3(OTOF):c.1051C>T (p.Gln351Ter)	OTOF	Pathogenic	2	26707496	26707496	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_005612.5(REST):c.2227G>T (p.Glu743Ter)	REST	Pathogenic	4	57797251	57797251	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_006005.3(WFS1):c.1174C>T (p.Gln392Ter)	WFS1	Likely pathogenic	4	6302696	6302696	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001038603.3(MARVELD2):c.296G>A (p.Trp99Ter)	MARVELD2	Likely pathogenic	5	68715508	68715508	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001038603.3(MARVELD2):c.866G>A (p.Trp289Ter)	MARVELD2	Pathogenic	5	68716078	68716078	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001038603.3(MARVELD2):c.1160C>G (p.Ser387Ter)	MARVELD2	Pathogenic	5	68720441	68720441	C	G	criteria provided, single submitter	-