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
Deletion	NM_004004.6(GJB2):c.514del (p.Trp172fs)	GJB2	Pathogenic/Likely pathogenic	13	20763207	20763207	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041593
single nucleotide variant	NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	GJB2	Pathogenic/Likely pathogenic	13	20763282	20763282	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6904269
single nucleotide variant	NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)	GJB2	Pathogenic/Likely pathogenic	13	20763483	20763483	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6904300
Deletion	NM_004004.6(GJB2):c.134del (p.Gly45fs)	GJB2	Likely pathogenic	13	20763587	20763587	TC	T	criteria provided, single submitter	ClinGen:CA16041594
single nucleotide variant	NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)	GJB2	Pathogenic/Likely pathogenic	13	20763662	20763662	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041595
single nucleotide variant	NM_004004.6(GJB2):c.2T>C (p.Met1Thr)	GJB2	Likely pathogenic	13	20763719	20763719	A	G	reviewed by expert panel	ClinGen:CA6904336
Deletion	NM_001854.4(COL11A1):c.1630-2del	COL11A1	Pathogenic	1	103474074	103474074	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042286,LOVD 3:COL11A1_000006,OMIM:120280.0005
single nucleotide variant	NM_004700.4(KCNQ4):c.824G>C (p.Trp275Ser)	KCNQ4	Likely pathogenic	1	41285134	41285134	G	C	criteria provided, single submitter	ClinGen:CA16042364
single nucleotide variant	NM_147196.3(TMIE):c.92A>G (p.Glu31Gly)	TMIE	Pathogenic/Likely pathogenic	3	46743069	46743069	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042503
Deletion	NM_002700.3(POU4F3):c.502del (p.Ala168fs)	POU4F3	Pathogenic/Likely pathogenic	5	145719491	145719491	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3491147