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.1000A>G (p.Lys334Glu)	POU3F4	Likely pathogenic	X	82764332	82764332	A	G	criteria provided, single submitter	ClinGen:CA255977,OMIM:300039.0005
single nucleotide variant	NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)	PRPS1	Likely pathogenic	X	106884169	106884169	T	C	criteria provided, single submitter	ClinGen:CA340960,UniProtKB:P60891#VAR_036942,OMIM:311850.0010
single nucleotide variant	NM_002764.4(PRPS1):c.547G>C (p.Asp183His)	PRPS1	Likely pathogenic	X	106888423	106888423	G	C	criteria provided, single submitter	ClinGen:CA254935,UniProtKB:P60891#VAR_004164,OMIM:311850.0002
single nucleotide variant	NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser)	PRPS1	Likely pathogenic	X	106884166	106884166	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA254933,UniProtKB:P60891#VAR_004163,OMIM:311850.0001
single nucleotide variant	NM_002473.6(MYH9):c.99G>C (p.Trp33Cys)	MYH9	Pathogenic	22	36745183	36745183	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002473.6(MYH9):c.2104C>A (p.Arg702Ser)	MYH9	Likely pathogenic	22	36702031	36702031	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_002473.6(MYH9):c.97T>G (p.Trp33Gly)	MYH9	Likely pathogenic	22	36745185	36745185	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_002473.6(MYH9):c.220A>G (p.Lys74Glu)	MYH9	Likely pathogenic	22	36745062	36745062	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002473.6(MYH9):c.283G>A (p.Ala95Thr)	MYH9	Pathogenic/Likely pathogenic	22	36744999	36744999	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002473.6(MYH9):c.1119G>C (p.Lys373Asn)	MYH9	Likely pathogenic	22	36714360	36714360	C	G	criteria provided, single submitter	-