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_001243133.2(NLRP3):c.919G>C (p.Gly307Arg)	NLRP3	Likely pathogenic	1	247587670	247587670	G	C	criteria provided, single submitter	ClinGen:CA16603604
single nucleotide variant	NM_006005.3(WFS1):c.2170C>T (p.Pro724Ser)	WFS1	Pathogenic	4	6303692	6303692	C	T	criteria provided, single submitter	ClinGen:CA2839633
single nucleotide variant	NM_005219.5(DIAPH1):c.2794C>T (p.Arg932Ter)	DIAPH1	Pathogenic	5	140908493	140908493	G	A	criteria provided, single submitter	ClinGen:CA16604818
single nucleotide variant	NM_004100.5(EYA4):c.1537C>T (p.Gln513Ter)	EYA4	Pathogenic	6	133836494	133836494	C	T	criteria provided, single submitter	ClinGen:CA16604856
single nucleotide variant	NM_004999.4(MYO6):c.817-1G>A	MYO6	Likely pathogenic	6	76554613	76554613	G	A	criteria provided, single submitter	ClinGen:CA16604993
single nucleotide variant	NM_000441.2(SLC26A4):c.1544+5G>A	SLC26A4	Likely pathogenic	7	107336489	107336489	G	A	criteria provided, single submitter	ClinGen:CA16605105
single nucleotide variant	NM_000441.2(SLC26A4):c.2206C>T (p.Gln736Ter)	SLC26A4	Pathogenic	7	107350615	107350615	C	T	criteria provided, single submitter	ClinGen:CA16605106
single nucleotide variant	NM_014208.3(DSPP):c.52-1G>C	DSPP	Likely pathogenic	4	88533256	88533256	G	C	criteria provided, single submitter	ClinGen:CA16605124
single nucleotide variant	NM_080680.3(COL11A2):c.2179G>T (p.Gly727Ter)	COL11A2	Likely pathogenic	6	33144071	33144071	C	A	criteria provided, single submitter	ClinGen:CA16605528
single nucleotide variant	NM_022124.6(CDH23):c.288+1G>C	CDH23	Pathogenic	10	73269982	73269982	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605678