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.968G>A (p.Arg323His)	POU3F4	Likely pathogenic	X	82764300	82764300	G	A	criteria provided, single submitter	ClinGen:CA185522
single nucleotide variant	NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)	AIFM1	Pathogenic/Likely pathogenic	X	129270061	129270061	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA175066,UniProtKB:O95831#VAR_076215,OMIM:300169.0006
single nucleotide variant	NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)	AIFM1	Pathogenic	X	129270060	129270060	C	T	criteria provided, single submitter	ClinGen:CA175068,UniProtKB:O95831#VAR_076214,OMIM:300169.0007
single nucleotide variant	NM_002764.4(PRPS1):c.925G>T (p.Val309Phe)	PRPS1	Pathogenic	X	106893230	106893230	G	T	criteria provided, single submitter	ClinGen:CA270662,OMIM:311850.0023
single nucleotide variant	NM_002764.4(PRPS1):c.343A>G (p.Met115Val)	PRPS1	Pathogenic	X	106884168	106884168	A	G	criteria provided, single submitter	ClinGen:CA270659,OMIM:311850.0022
single nucleotide variant	NM_002764.4(PRPS1):c.337G>T (p.Ala113Ser)	PRPS1	Pathogenic	X	106884162	106884162	G	T	criteria provided, single submitter	ClinGen:CA270656,OMIM:311850.0021
Deletion	NM_000307.5(POU3F4):c.853_854del (p.Ile285fs)	POU3F4	Pathogenic	X	82764185	82764186	CAT	C	criteria provided, single submitter	ClinGen:CA261368
single nucleotide variant	NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr)	POU3F4	Likely pathogenic	X	82764027	82764027	T	C	criteria provided, single submitter	ClinGen:CA261366
single nucleotide variant	NM_000307.5(POU3F4):c.499C>T (p.Arg167Ter)	POU3F4	Pathogenic	X	82763831	82763831	C	T	criteria provided, single submitter	ClinGen:CA261364
single nucleotide variant	NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter)	POU3F4	Pathogenic/Likely pathogenic	X	82763673	82763673	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261362