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.706C>G (p.Leu236Val)	SLC26A4	Likely pathogenic	7	107315495	107315495	C	G	reviewed by expert panel	ClinGen:CA132738
single nucleotide variant	NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	SLC26A4	Pathogenic/Likely pathogenic	7	107315505	107315505	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261438,UniProtKB:O43511#VAR_021653
single nucleotide variant	NM_000441.2(SLC26A4):c.765+2T>C	SLC26A4	Pathogenic/Likely pathogenic	7	107315556	107315556	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261439
single nucleotide variant	NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)	SLC26A4	Likely pathogenic	7	107323726	107323726	G	A	reviewed by expert panel	ClinGen:CA261440
single nucleotide variant	NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)	SLC26A4	Pathogenic/Likely pathogenic	7	107302171	107302171	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261442
single nucleotide variant	NM_000441.2(SLC26A4):c.918+1G>T	SLC26A4	Pathogenic/Likely pathogenic	7	107323800	107323800	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261444
Deletion	NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	PDZD7	Pathogenic/Likely pathogenic	10	102770539	102770539	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA133622,OMIM:612971.0009
single nucleotide variant	NM_004004.6(GJB2):c.101T>G (p.Met34Arg)	GJB2	Likely pathogenic	13	20763620	20763620	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261633
single nucleotide variant	NM_004004.6(GJB2):c.119C>A (p.Ala40Glu)	GJB2	Likely pathogenic	13	20763602	20763602	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261635
single nucleotide variant	NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)	GJB2	Pathogenic	13	20763552	20763552	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261637