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_001384140.1(PCDH15):c.29del (p.Cys10fs)	PCDH15	Likely pathogenic	10	56423994	56423994	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_153676.4(USH1C):c.2381-2A>G	USH1C	Likely pathogenic	11	17519820	17519820	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_153676.4(USH1C):c.2227-1G>T	USH1C	Pathogenic/Likely pathogenic	11	17523083	17523083	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_153676.4(USH1C):c.760-1G>T	USH1C	Likely pathogenic	11	17545026	17545026	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_153676.4(USH1C):c.674+2T>G	USH1C	Pathogenic/Likely pathogenic	11	17547892	17547892	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)	USH1C	Pathogenic/Likely pathogenic	11	17547896	17547896	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_153676.4(USH1C):c.2326dup (p.Ile776fs)	USH1C	Pathogenic/Likely pathogenic	11	17522651	17522652	A	AT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_153676.4(USH1C):c.1020-2A>C	USH1C	Likely pathogenic	11	17542960	17542960	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_153676.4(USH1C):c.496+1G>T	USH1C	Pathogenic	11	17548769	17548769	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_153676.4(USH1C):c.248+1G>A	USH1C	Likely pathogenic	11	17552945	17552945	C	T	criteria provided, multiple submitters, no conflicts	-