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_001145809.2(MYH14):c.590+1G>A	MYH14	Pathogenic/Likely pathogenic	19	50726368	50726368	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9592309
single nucleotide variant	NM_001854.4(COL11A1):c.4302+2T>C	COL11A1	Likely pathogenic	1	103363679	103363679	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA341155113,OMIM:120280.0015
Deletion	NM_016239.4(MYO15A):c.8309_8311del (p.Glu2770del)	MYO15A	Pathogenic/Likely pathogenic	17	18058506	18058508	GGGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684007
Deletion	NM_002473.6(MYH9):c.32_33del (p.Tyr11fs)	MYH9	Likely pathogenic	22	36745249	36745250	CAT	C	criteria provided, single submitter	ClinGen:CA658684273
Duplication	NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs)	DIAPH1	Likely pathogenic	5	140907144	140907145	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683431
single nucleotide variant	NM_001127453.2(GSDME):c.1183+1G>A	GSDME	Likely pathogenic	7	24745802	24745802	C	T	criteria provided, single submitter	ClinGen:CA367046833
single nucleotide variant	NM_001378609.3(OTOGL):c.5027C>G (p.Ser1676Ter)	OTOGL	Likely pathogenic	12	80733021	80733021	C	G	criteria provided, single submitter	ClinGen:CA385882773
single nucleotide variant	NM_001243133.2(NLRP3):c.55G>C (p.Asp19His)	NLRP3	Likely pathogenic	1	247582157	247582157	G	C	criteria provided, single submitter	ClinGen:CA1494741,OMIM:606416.0012
Deletion	NM_004004.6(GJB2):c.11del (p.Gly4fs)	GJB2	Pathogenic/Likely pathogenic	13	20763710	20763710	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA483154064
Deletion	NM_004004.6(GJB2):c.298del (p.His100fs)	GJB2	Pathogenic/Likely pathogenic	13	20763423	20763423	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6904286