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_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter)	MYO15A	Pathogenic	17	18046140	18046140	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8424429
single nucleotide variant	NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)	MYO15A	Pathogenic/Likely pathogenic	17	18058028	18058028	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8425074,ClinVar:424811
single nucleotide variant	NM_016239.4(MYO15A):c.9303+1G>T	MYO15A	Pathogenic/Likely pathogenic	17	18062994	18062994	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577028
Deletion	NM_001039876.1(SYNE4):c.(?_1)_(1215_?)del	SYNE4	Likely pathogenic	19	36494239	36499583	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_133261.3(GIPC3):c.411+1G>A	GIPC3	Pathogenic	19	3586679	3586679	G	A	criteria provided, single submitter	ClinGen:CA501223
single nucleotide variant	NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter)	SYNE4	Pathogenic/Likely pathogenic	19	36497711	36497711	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9393906
single nucleotide variant	NM_001039213.4(CEACAM16):c.1186A>G (p.Thr396Ala)	CEACAM16	Likely pathogenic	19	45211378	45211378	A	G	criteria provided, single submitter	ClinGen:CA9503252
single nucleotide variant	NM_000260.4(MYO7A):c.2904G>A (p.Glu968=)	MYO7A	Likely pathogenic	11	76892635	76892635	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6197949
single nucleotide variant	NM_000260.4(MYO7A):c.314T>G (p.Val105Gly)	MYO7A	Likely pathogenic	11	76866981	76866981	T	G	criteria provided, single submitter	ClinGen:CA10577199
single nucleotide variant	NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter)	MYO7A	Pathogenic	11	76886438	76886438	C	A	criteria provided, single submitter	ClinGen:CA6197712