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_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)	COL11A1	Likely pathogenic	1	103377736	103377753	GTGGGCCAGCCTCACCAGA	G	criteria provided, single submitter	ClinGen:CA658795491
Deletion	NM_001199799.2(ILDR1):c.745del (p.Ser249fs)	ILDR1	Pathogenic/Likely pathogenic	3	121713062	121713062	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA82735858
single nucleotide variant	NM_001145026.2(PTPRQ):c.6475C>T (p.Arg2159Ter)	PTPRQ	Pathogenic	12	81064144	81064144	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA385936344
single nucleotide variant	NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter)	MYO15A	Pathogenic/Likely pathogenic	17	18060373	18060373	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8425228
single nucleotide variant	NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly)	MYH9	Likely pathogenic	22	36688105	36688105	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA323590385
single nucleotide variant	NM_001384474.1(LOXHD1):c.3061+1G>A	LOXHD1	Pathogenic/Likely pathogenic	18	44140045	44140045	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299794248
single nucleotide variant	NM_022124.6(CDH23):c.805C>T (p.Arg269Trp)	CDH23	Likely pathogenic	10	73337722	73337722	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter)	EYA4	Pathogenic	6	133846312	133846312	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA365700536,OMIM:603550.0002
Indel	NM_004999.4(MYO6):c.790_795delinsAA (p.His264fs)	MYO6	Pathogenic	6	76551069	76551074	CATTTG	AA	criteria provided, single submitter	ClinGen:CA658796791
Duplication	NM_004999.4(MYO6):c.2751dup (p.Gln918fs)	MYO6	Likely pathogenic	6	76599857	76599858	G	GA	reviewed by expert panel	ClinGen:CA3897446