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_000307.5(POU3F4):c.385C>T (p.Gln129Ter)	POU3F4	Likely pathogenic	X	82763717	82763717	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter)	POU3F4	Pathogenic	X	82764307	82764307	G	A	criteria provided, single submitter	-
Duplication	NM_000307.5(POU3F4):c.249dup (p.Gly84fs)	POU3F4	Pathogenic	X	82763578	82763579	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_002764.4(PRPS1):c.307-2A>G	PRPS1	Pathogenic	X	106884130	106884130	A	G	criteria provided, single submitter	ClinGen:CA413806127
Deletion	NM_000307.5(POU3F4):c.410del (p.Pro137fs)	POU3F4	Likely pathogenic	X	82763741	82763741	GC	G	criteria provided, single submitter	ClinGen:CA658799810
single nucleotide variant	NM_004208.4(AIFM1):c.710A>T (p.Asp237Val)	AIFM1	Likely pathogenic	X	129274579	129274579	T	A	criteria provided, single submitter	ClinGen:CA414583508
single nucleotide variant	NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp)	PRPS1	Likely pathogenic	X	106888516	106888516	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA413812308
single nucleotide variant	NM_002764.4(PRPS1):c.586C>T (p.Arg196Trp)	PRPS1	Pathogenic/Likely pathogenic	X	106888462	106888462	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA413811807
Duplication	NM_014332.3(SMPX):c.99dup (p.Arg34fs)	SMPX	Likely pathogenic	X	21761900	21761901	T	TG	criteria provided, single submitter	ClinGen:CA10367229
single nucleotide variant	NM_004208.4(AIFM1):c.469G>T (p.Ala157Ser)	AIFM1	Likely pathogenic	X	129281732	129281732	C	A	criteria provided, single submitter	ClinGen:CA414588706