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_022124.6(CDH23):c.4210-2A>G	CDH23	Pathogenic/Likely pathogenic	10	73498253	73498253	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_022124.6(CDH23):c.945+1G>A	CDH23	Pathogenic/Likely pathogenic	10	73375374	73375374	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_005797.4(MPZL2):c.72del (p.Ile24fs)	MPZL2	Pathogenic/Likely pathogenic	11	118133799	118133799	CT	C	criteria provided, multiple submitters, no conflicts	OMIM:604873.0001
Indel	NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs)	TSPEAR	Pathogenic/Likely pathogenic	21	45929108	45929110	GAC	AA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter)	ILDR1	Pathogenic/Likely pathogenic	3	121712212	121712212	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76903177	76903177	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter)	CDC14A	Pathogenic/Likely pathogenic	1	100949903	100949903	C	T	criteria provided, multiple submitters, no conflicts	OMIM:603504.0007
single nucleotide variant	NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly)	CDC14A	Pathogenic/Likely pathogenic	1	100933607	100933607	C	G	criteria provided, multiple submitters, no conflicts	OMIM:603504.0004
single nucleotide variant	NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)	LOXHD1	Pathogenic/Likely pathogenic	18	44102147	44102147	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)	GJB2	Pathogenic/Likely pathogenic	13	20763627	20763627	G	T	criteria provided, multiple submitters, no conflicts	-