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_004208.4(AIFM1):c.1204C>A (p.Pro402Thr)	AIFM1	Likely pathogenic	X	129270121	129270121	G	T	criteria provided, single submitter	ClinGen:CA414575358
single nucleotide variant	NM_000307.5(POU3F4):c.232C>T (p.Gln78Ter)	POU3F4	Pathogenic	X	82763564	82763564	C	T	criteria provided, single submitter	ClinGen:CA413751087
single nucleotide variant	NM_004208.4(AIFM1):c.578T>C (p.Phe193Ser)	AIFM1	Likely pathogenic	X	129281495	129281495	A	G	criteria provided, single submitter	ClinGen:CA414587939
single nucleotide variant	NM_000307.5(POU3F4):c.647G>A (p.Gly216Glu)	POU3F4	Likely pathogenic	X	82763979	82763979	G	A	criteria provided, single submitter	ClinGen:CA16621515
single nucleotide variant	NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)	AIFM1	Pathogenic/Likely pathogenic	X	129271109	129271109	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043577,OMIM:300169.0015
single nucleotide variant	NM_002764.4(PRPS1):c.361G>A (p.Ala121Thr)	PRPS1	Likely pathogenic	X	106884186	106884186	G	A	criteria provided, single submitter	ClinGen:CA10584630
single nucleotide variant	NM_002764.4(PRPS1):c.319A>G (p.Ile107Val)	PRPS1	Likely pathogenic	X	106884144	106884144	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584629
single nucleotide variant	NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)	AIFM1	Likely pathogenic	X	129267384	129267384	C	T	criteria provided, single submitter	ClinGen:CA279885,UniProtKB:O95831#VAR_076217,OMIM:300169.0003
single nucleotide variant	NM_004208.4(AIFM1):c.1184T>G (p.Val395Gly)	AIFM1	Likely pathogenic	X	129270141	129270141	A	C	criteria provided, single submitter	ClinGen:CA322395
Deletion	NM_000307.5(POU3F4):c.1086_*3del (p.Ter362TrpextTer?)	POU3F4	Likely pathogenic	X	82764415	82764418	TCTGA	T	criteria provided, single submitter	ClinGen:CA273213