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_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76903177	76903177	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001110219.3(GJB6):c.487del (p.Leu163fs)	GJB6	Likely pathogenic	13	20797133	20797133	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001614.5(ACTG1):c.277G>A (p.Glu93Lys)	ACTG1	Likely pathogenic	17	79479015	79479015	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter)	ILDR1	Pathogenic/Likely pathogenic	3	121712212	121712212	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_138691.3(TMC1):c.1220dup (p.Asn407fs)	TMC1	Pathogenic	9	75404222	75404223	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.20G>T (p.Gly7Val)	MYO7A	Pathogenic	11	76853756	76853756	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001031679.3(MSRB3):c.391-1G>A	MSRB3	Pathogenic	12	65856934	65856934	G	A	criteria provided, single submitter	-
Deletion	NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del	STRC	Pathogenic	15	43886857	43992627	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002473.6(MYH9):c.1271G>A (p.Arg424Gln)	MYH9	Likely pathogenic	22	36712671	36712671	C	T	criteria provided, single submitter	-
Deletion	NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)	WFS1	Likely pathogenic	4	6304163	6304166	CTTCT	C	criteria provided, multiple submitters, no conflicts	-