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.2283-1G>T	MYO7A	Pathogenic	11	76890090	76890090	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278646
single nucleotide variant	NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)	MYO7A	Likely pathogenic	11	76890971	76890971	G	A	reviewed by expert panel	ClinGen:CA132255
single nucleotide variant	NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)	MYO7A	Likely pathogenic	11	76892635	76892635	G	T	reviewed by expert panel	ClinGen:CA278647,UniProtKB:Q13402#VAR_024049
Deletion	NM_000260.4(MYO7A):c.3327del (p.His1109fs)	MYO7A	Pathogenic	11	76894154	76894154	AC	A	criteria provided, single submitter	ClinGen:CA278648
single nucleotide variant	NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)	MYO7A	Pathogenic/Likely pathogenic	11	76895733	76895733	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA132291
single nucleotide variant	NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)	MYO7A	Pathogenic	11	76900393	76900393	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278649,UniProtKB:Q13402#VAR_009336
Deletion	NM_000260.4(MYO7A):c.3532del (p.Gln1178fs)	MYO7A	Pathogenic/Likely pathogenic	11	76900417	76900417	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278650
single nucleotide variant	NM_000260.4(MYO7A):c.3533A>C (p.Gln1178Pro)	MYO7A	Likely pathogenic	11	76900418	76900418	A	C	criteria provided, single submitter	ClinGen:CA278651
single nucleotide variant	NM_000260.4(MYO7A):c.3572G>A (p.Gly1191Asp)	MYO7A	Likely pathogenic	11	76900457	76900457	G	A	criteria provided, single submitter	ClinGen:CA278654
Deletion	NM_000260.4(MYO7A):c.3696_3706del (p.Arg1232fs)	MYO7A	Pathogenic	11	76901130	76901140	AGAAGGACCTTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278656