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
Indel	NM_005219.5(DIAPH1):c.1971_1972delinsT (p.Leu657fs)	DIAPH1	Pathogenic	5	140953445	140953446	GC	A	criteria provided, single submitter	ClinGen:CA16618132
single nucleotide variant	NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)	COL11A2	Likely pathogenic	6	33139582	33139582	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618279
Duplication	NM_015404.4(WHRN):c.856dup (p.Asp286fs)	WHRN	Pathogenic/Likely pathogenic	9	117228653	117228654	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618729
single nucleotide variant	NM_022124.6(CDH23):c.494G>T (p.Gly165Val)	CDH23	Likely pathogenic	10	73326563	73326563	G	T	criteria provided, single submitter	ClinGen:CA16618978
Duplication	NM_022124.6(CDH23):c.1428dup (p.Thr477fs)	CDH23	Pathogenic	10	73406349	73406350	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA5543801
single nucleotide variant	NM_022124.6(CDH23):c.7225-1G>A	CDH23	Likely pathogenic	10	73559248	73559248	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618983
Insertion	NM_022124.6(CDH23):c.8770_8771insTGGCTGTA (p.Ser2924fs)	CDH23	Pathogenic	10	73569623	73569624	C	CATGGCTGT	criteria provided, single submitter	ClinGen:CA16618984
single nucleotide variant	NM_005422.4(TECTA):c.4977-1G>T	TECTA	Likely pathogenic	11	121032783	121032783	G	T	criteria provided, single submitter	ClinGen:CA6327635
single nucleotide variant	NM_000260.4(MYO7A):c.285+1G>C	MYO7A	Pathogenic/Likely pathogenic	11	76858997	76858997	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619408
Duplication	NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs)	MYO7A	Pathogenic	11	76867001	76867002	T	TCCATCTACTCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619409