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_000441.2(SLC26A4):c.619C>T (p.Gln207Ter)	SLC26A4	Pathogenic/Likely pathogenic	7	107315408	107315408	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041104
Deletion	NM_000441.2(SLC26A4):c.858_865del (p.Lys286_Glu287insTer)	SLC26A4	Likely pathogenic	7	107323735	107323742	GTTAAGGAA	G	criteria provided, single submitter	ClinGen:CA16041105
Duplication	NM_000441.2(SLC26A4):c.916dup (p.Val306fs)	SLC26A4	Pathogenic/Likely pathogenic	7	107323796	107323797	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA4432610
single nucleotide variant	NM_000441.2(SLC26A4):c.1001+1G>T	SLC26A4	Pathogenic/Likely pathogenic	7	107323983	107323983	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4432643
single nucleotide variant	NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val)	SLC26A4	Pathogenic/Likely pathogenic	7	107330579	107330579	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4432713
single nucleotide variant	NM_000441.2(SLC26A4):c.1173C>A (p.Ser391Arg)	SLC26A4	Likely pathogenic	7	107330592	107330592	C	A	criteria provided, single submitter	ClinGen:CA16041107
single nucleotide variant	NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)	SLC26A4	Pathogenic/Likely pathogenic	7	107330644	107330644	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4432722
single nucleotide variant	NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)	SLC26A4	Pathogenic/Likely pathogenic	7	107330657	107330657	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA4432728
Deletion	NM_000441.2(SLC26A4):c.1238del (p.Gln413fs)	SLC26A4	Likely pathogenic	7	107330657	107330657	CA	C	criteria provided, single submitter	ClinGen:CA16041108
single nucleotide variant	NM_000441.2(SLC26A4):c.1263+1G>A	SLC26A4	Pathogenic/Likely pathogenic	7	107330683	107330683	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041109