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
Duplication	NM_000260.4(MYO7A):c.5581dup (p.Arg1861fs)	MYO7A	Pathogenic	11	76916604	76916605	T	TC	criteria provided, single submitter	ClinGen:CA278685
single nucleotide variant	NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)	MYO7A	Pathogenic/Likely pathogenic	11	76916643	76916643	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278686,UniProtKB:Q13402#VAR_027314
single nucleotide variant	NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)	MYO7A	Pathogenic	11	76916644	76916644	G	A	reviewed by expert panel	ClinGen:CA278687
single nucleotide variant	NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)	MYO7A	Pathogenic/Likely pathogenic	11	76917153	76917153	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278689,UniProtKB:Q13402#VAR_024053
single nucleotide variant	NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)	MYO7A	Pathogenic/Likely pathogenic	11	76917165	76917165	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278690,UniProtKB:Q13402#VAR_024054
single nucleotide variant	NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)	MYO7A	Likely pathogenic	11	76918395	76918395	T	C	reviewed by expert panel	ClinGen:CA278691
single nucleotide variant	NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76918415	76918415	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278693
Deletion	NM_000260.4(MYO7A):c.582del (p.Ile195fs)	MYO7A	Pathogenic	11	76867813	76867813	AC	A	criteria provided, single submitter	ClinGen:CA278695
single nucleotide variant	NM_000260.4(MYO7A):c.587T>C (p.Leu196Pro)	MYO7A	Likely pathogenic	11	76867822	76867822	T	C	criteria provided, single submitter	ClinGen:CA278696
Deletion	NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)	MYO7A	Pathogenic	11	76919821	76919821	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278702