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_000260.4(MYO7A):c.5856G>A (p.Lys1952=)	MYO7A	Pathogenic/Likely pathogenic	11	76918447	76918447	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs)	MYO7A	Pathogenic	11	76919502	76919505	CTTCT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.6238-2A>C	MYO7A	Likely pathogenic	11	76922864	76922864	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter)	MYO7A	Pathogenic	11	76922949	76922949	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004004.6(GJB2):c.668_671del (p.Lys223fs)	GJB2	Likely pathogenic	13	20763050	20763053	CTTTT	C	criteria provided, single submitter	-
Duplication	NM_004004.6(GJB2):c.232dup (p.Ala78fs)	GJB2	Pathogenic/Likely pathogenic	13	20763488	20763489	G	GC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.18+2T>A	MYO7A	Likely pathogenic	11	76841700	76841700	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter)	MYO7A	Likely pathogenic	11	76890169	76890169	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76894125	76894125	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter)	MYO7A	Likely pathogenic	11	76894137	76894137	A	T	criteria provided, single submitter	-