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.3546C>A (p.Asn1182Lys)	MYO7A	Likely pathogenic	11	76900431	76900431	C	A	reviewed by expert panel	ClinGen:CA381946913
Deletion	NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)	MYO7A	Pathogenic	11	76910849	76910849	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA475796669
single nucleotide variant	NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met)	MYO7A	Pathogenic	11	76925017	76925017	C	T	criteria provided, single submitter	ClinGen:CA381938356
single nucleotide variant	NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val)	MYO7A	Likely pathogenic	11	76873171	76873171	A	T	criteria provided, single submitter	ClinGen:CA381935201
Deletion	NM_015404.4(WHRN):c.837+1del	WHRN	Likely pathogenic	9	117240832	117240832	AC	A	criteria provided, single submitter	ClinGen:CA5206191
Duplication	NM_016239.4(MYO15A):c.2065dup (p.Arg689fs)	MYO15A	Likely pathogenic	17	18024175	18024176	G	GC	criteria provided, single submitter	ClinGen:CA658653837
Deletion	NM_016239.4(MYO15A):c.7476_7477del (p.Lys2492fs)	MYO15A	Likely pathogenic	17	18054426	18054427	AAC	A	criteria provided, single submitter	ClinGen:CA625315182
single nucleotide variant	NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)	CDH23	Pathogenic	10	73464800	73464800	G	A	reviewed by expert panel	ClinGen:CA5544361
single nucleotide variant	NM_022124.6(CDH23):c.6253+1G>A	CDH23	Pathogenic/Likely pathogenic	10	73551093	73551093	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377153293
Duplication	NM_014332.3(SMPX):c.99dup (p.Arg34fs)	SMPX	Likely pathogenic	X	21761900	21761901	T	TG	criteria provided, single submitter	ClinGen:CA10367229