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.235C>T (p.Arg79Ter)	SLC26A4	Pathogenic/Likely pathogenic	7	107303811	107303811	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274174
single nucleotide variant	NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)	SLC26A4	Likely pathogenic	7	107303845	107303845	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274028,UniProtKB:O43511#VAR_021642
Deletion	NM_000441.2(SLC26A4):c.279del (p.Ser93fs)	SLC26A4	Pathogenic/Likely pathogenic	7	107303855	107303855	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273880,OMIM:605646.0016
single nucleotide variant	NM_000441.2(SLC26A4):c.304+2T>C	SLC26A4	Pathogenic/Likely pathogenic	7	107303882	107303882	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274448
Duplication	NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)	SLC26A4	Pathogenic	7	107312637	107312638	C	CT	reviewed by expert panel	ClinGen:CA274422
single nucleotide variant	NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)	SLC26A4	Likely pathogenic	7	107314747	107314747	G	C	reviewed by expert panel	ClinGen:CA274070,UniProtKB:O43511#VAR_064991
Deletion	NM_000441.2(SLC26A4):c.890del (p.Pro297fs)	SLC26A4	Pathogenic/Likely pathogenic	7	107323769	107323769	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274208
single nucleotide variant	NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	SLC26A4	Pathogenic/Likely pathogenic	7	107323982	107323982	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274302
single nucleotide variant	NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)	SLC26A4	Pathogenic/Likely pathogenic	7	107329575	107329575	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273966
Deletion	NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)	SLC26A4	Pathogenic/Likely pathogenic	7	107336459	107336459	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA274209