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_004999.4(MYO6):c.2545C>T (p.Arg849Ter)	MYO6	Pathogenic	6	76596598	76596598	C	T	criteria provided, single submitter	ClinGen:CA254507,OMIM:600970.0006
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_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.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_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_000260.4(MYO7A):c.448C>T (p.Arg150Ter)	MYO7A	Pathogenic	11	76867115	76867115	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277957,OMIM:276903.0001
single nucleotide variant	NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)	MYO7A	Pathogenic	11	76868015	76868015	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277959,OMIM:276903.0002
single nucleotide variant	NM_000260.4(MYO7A):c.635G>A (p.Arg212His)	MYO7A	Pathogenic/Likely pathogenic	11	76867950	76867950	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA277961,UniProtKB:Q13402#VAR_009319,OMIM:276903.0004
single nucleotide variant	NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)	MYO7A	Pathogenic	11	76867949	76867949	C	T	criteria provided, single submitter	ClinGen:CA277962,UniProtKB:Q13402#VAR_009318,OMIM:276903.0005
single nucleotide variant	NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)	MYO7A	Pathogenic	11	76883880	76883880	C	A	criteria provided, single submitter	ClinGen:CA277963,OMIM:276903.0012