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
Duplication	NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)	SLC26A4	Pathogenic/Likely pathogenic	7	107338487	107338488	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA273923
single nucleotide variant	NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)	SLC26A4	Pathogenic/Likely pathogenic	7	107338528	107338528	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA274438
single nucleotide variant	NM_000441.2(SLC26A4):c.1919G>A (p.Trp640Ter)	SLC26A4	Likely pathogenic	7	107342387	107342387	G	A	criteria provided, single submitter	ClinGen:CA274015
single nucleotide variant	NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)	SLC26A4	Pathogenic/Likely pathogenic	7	107342388	107342388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274264
single nucleotide variant	NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)	SLC26A4	Pathogenic/Likely pathogenic	7	107342443	107342443	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274086
single nucleotide variant	NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)	SLC26A4	Pathogenic/Likely pathogenic	7	107344827	107344827	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274444
Deletion	NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)	SLC26A4	Pathogenic/Likely pathogenic	7	107350534	107350534	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274062
single nucleotide variant	NM_001384140.1(PCDH15):c.3717+1G>A	PCDH15	Pathogenic/Likely pathogenic	10	55626401	55626401	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274358
single nucleotide variant	NM_004004.6(GJB2):c.598G>T (p.Gly200Ter)	GJB2	Likely pathogenic	13	20763123	20763123	C	A	criteria provided, single submitter	ClinGen:CA274205
single nucleotide variant	NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	GJB2	Pathogenic/Likely pathogenic	13	20763125	20763125	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274470