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_153676.4(USH1C):c.1A>G (p.Met1Val)	USH1C	Likely pathogenic	11	17565854	17565854	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_153676.4(USH1C):c.2281-1G>A	USH1C	Likely pathogenic	11	17522698	17522698	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.19-2A>G	MYO7A	Pathogenic	11	76853753	76853753	A	G	criteria provided, single submitter	-
Deletion	NM_005709.4(USH1C):c.1220del (p.Gly407fs)	USH1C	Pathogenic	11	17539012	17539012	TC	T	criteria provided, multiple submitters, no conflicts	OMIM:605242.0013
single nucleotide variant	NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76853783	76853783	T	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_153676.4(USH1C):c.1146dup (p.Gln383fs)	USH1C	Pathogenic/Likely pathogenic	11	17542480	17542481	G	GT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000260.4(MYO7A):c.117_132+6del	MYO7A	Likely pathogenic	11	76853851	76853872	GGTGGATGATGAAGACAATGTGA	G	criteria provided, single submitter	-
Deletion	NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)	USH1C	Pathogenic/Likely pathogenic	11	17542488	17542488	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_153676.4(USH1C):c.877-1G>A	USH1C	Likely pathogenic	11	17544474	17544474	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.133-2A>C	MYO7A	Likely pathogenic	11	76858842	76858842	A	C	criteria provided, single submitter	-