遺伝性難聴 - MGenReviews

遺伝性難聴

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_004004.6(GJB2):c.195C>G (p.Tyr65Ter)	GJB2	Pathogenic/Likely pathogenic	13	20763526	20763526	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys)	MYO7A	Pathogenic/Likely pathogenic	11	76915228	76915228	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter)	GJB2	Pathogenic/Likely pathogenic	13	20763115	20763116	G	GCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_022124.6(CDH23):c.9284dup (p.Arg3096fs)	CDH23	Pathogenic/Likely pathogenic	10	73571473	73571474	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_022124.6(CDH23):c.6449del (p.Gly2150fs)	CDH23	Pathogenic/Likely pathogenic	10	73553131	73553131	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002473.6(MYH9):c.283G>A (p.Ala95Thr)	MYH9	Pathogenic/Likely pathogenic	22	36744999	36744999	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)	MYH9	Pathogenic/Likely pathogenic	22	36701983	36701983	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter)	TRIOBP	Pathogenic/Likely pathogenic	22	38120496	38120496	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004999.4(MYO6):c.1159C>T (p.Arg387Ter)	MYO6	Pathogenic/Likely pathogenic	6	76564936	76564936	C	T	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	-