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.3706C>T (p.Arg1236Ter)	CDH23	Pathogenic	10	73490352	73490352	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261780
single nucleotide variant	NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)	CDH23	Pathogenic	10	73498354	73498354	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261782
Deletion	NM_022124.6(CDH23):c.46del (p.Val16fs)	CDH23	Pathogenic	10	73199633	73199633	TG	T	criteria provided, single submitter	ClinGen:CA261784
single nucleotide variant	NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)	CDH23	Pathogenic	10	73544857	73544857	G	A	criteria provided, single submitter	ClinGen:CA261788
single nucleotide variant	NM_022124.6(CDH23):c.5923+1G>A	CDH23	Pathogenic	10	73548800	73548800	G	A	criteria provided, single submitter	ClinGen:CA261790
single nucleotide variant	NM_022124.6(CDH23):c.6049+1G>A	CDH23	Pathogenic	10	73550171	73550171	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261791
single nucleotide variant	NM_022124.6(CDH23):c.6050-9G>A	CDH23	Pathogenic	10	73550880	73550880	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261794
Deletion	NM_022124.6(CDH23):c.6412del (p.Glu2138fs)	CDH23	Likely pathogenic	10	73553096	73553096	AG	A	criteria provided, single submitter	ClinGen:CA261795
Deletion	NM_022124.6(CDH23):c.6968del (p.Pro2323fs)	CDH23	Pathogenic	10	73558247	73558247	AC	A	criteria provided, single submitter	ClinGen:CA261796
single nucleotide variant	NM_022124.6(CDH23):c.7776G>A (p.Trp2592Ter)	CDH23	Pathogenic	10	73563081	73563081	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261799