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_005612.5(REST):c.1310T>A (p.Leu437Ter)	REST	Likely pathogenic	4	57796334	57796334	T	A	criteria provided, single submitter	ClinGen:CA357006327,OMIM:600571.0005
Deletion	NM_005612.5(REST):c.2413del (p.Leu805fs)	REST	Likely pathogenic	4	57797434	57797434	TC	T	criteria provided, single submitter	ClinGen:CA645372752,OMIM:600571.0006
single nucleotide variant	NM_001243133.2(NLRP3):c.1065A>C (p.Lys355Asn)	NLRP3	Pathogenic	1	247587816	247587816	A	C	criteria provided, single submitter	ClinGen:CA345556009
single nucleotide variant	NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile)	WFS1	Pathogenic/Likely pathogenic	4	6302604	6302604	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2839213
single nucleotide variant	NM_006005.3(WFS1):c.2411T>C (p.Leu804Pro)	WFS1	Likely pathogenic	4	6303933	6303933	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA356178530
single nucleotide variant	NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)	SLC26A4	Likely pathogenic	7	107330681	107330681	A	G	reviewed by expert panel	ClinGen:CA4432734
single nucleotide variant	NM_000260.4(MYO7A):c.1652T>C (p.Ile551Thr)	MYO7A	Likely pathogenic	11	76873996	76873996	T	C	criteria provided, single submitter	ClinGen:CA381936277
single nucleotide variant	NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)	GJB2	Likely pathogenic	13	20763158	20763158	T	C	reviewed by expert panel	ClinGen:CA387460893
Deletion	NM_001199107.2(TBC1D24):c.557del (p.Leu186fs)	TBC1D24	Pathogenic	16	2546706	2546706	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA620709065
single nucleotide variant	NM_004208.4(AIFM1):c.1204C>A (p.Pro402Thr)	AIFM1	Likely pathogenic	X	129270121	129270121	G	T	criteria provided, single submitter	ClinGen:CA414575358