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_000441.2(SLC26A4):c.1147del (p.Gln383fs)	SLC26A4	Pathogenic	7	107329642	107329642	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.1342-2A>C	SLC26A4	Likely pathogenic	7	107335064	107335064	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)	SLC26A4	Pathogenic/Likely pathogenic	7	107335067	107335067	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter)	SLC26A4	Pathogenic/Likely pathogenic	7	107335139	107335139	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.1768A>T (p.Lys590Ter)	SLC26A4	Likely pathogenic	7	107341606	107341606	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000441.2(SLC26A4):c.2044G>T (p.Glu682Ter)	SLC26A4	Pathogenic	7	107344785	107344785	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000441.2(SLC26A4):c.2090-1G>A	SLC26A4	Likely pathogenic	7	107350498	107350498	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)	SLC26A4	Likely pathogenic	7	107350595	107350595	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr)	SLC26A4	Likely pathogenic	7	107314633	107314633	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000441.2(SLC26A4):c.164+2T>A	SLC26A4	Likely pathogenic	7	107302252	107302252	T	A	criteria provided, single submitter	-