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
Indel	NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla)	MYO7A	Pathogenic/Likely pathogenic	11	76909642	76909649	AGATCATG	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA278670
single nucleotide variant	NM_000260.4(MYO7A):c.458G>A (p.Cys153Tyr)	MYO7A	Likely pathogenic	11	76867125	76867125	G	A	criteria provided, single submitter	ClinGen:CA278672
single nucleotide variant	NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76910832	76910832	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278674
single nucleotide variant	NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)	MYO7A	Pathogenic	11	76867729	76867729	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278676,UniProtKB:Q13402#VAR_024043
Deletion	NM_000260.4(MYO7A):c.496del (p.Glu166fs)	MYO7A	Pathogenic	11	76867730	76867730	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA278677
single nucleotide variant	NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76913402	76913402	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278678
Duplication	NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs)	MYO7A	Pathogenic/Likely pathogenic	11	76914142	76914143	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA278680
single nucleotide variant	NM_000260.4(MYO7A):c.5327-11A>G	MYO7A	Likely pathogenic	11	76915110	76915110	A	G	criteria provided, single submitter	ClinGen:CA278681
single nucleotide variant	NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter)	MYO7A	Pathogenic	11	76915186	76915186	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278682
single nucleotide variant	NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)	MYO7A	Pathogenic/Likely pathogenic	11	76916599	76916599	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA278684,UniProtKB:Q13402#VAR_024052