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_000260.4(MYO7A):c.73G>A (p.Gly25Arg)	MYO7A	Pathogenic/Likely pathogenic	11	76853809	76853809	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278727,UniProtKB:Q13402#VAR_009316
single nucleotide variant	NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu)	MYO7A	Pathogenic	11	76853813	76853813	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278728,UniProtKB:Q13402#VAR_024039
single nucleotide variant	NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser)	MYO7A	Pathogenic/Likely pathogenic	11	76892594	76892594	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278729,UniProtKB:Q13402#VAR_009334
single nucleotide variant	NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)	MYO7A	Likely pathogenic	11	76872026	76872026	A	G	reviewed by expert panel	ClinGen:CA278736
single nucleotide variant	NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)	MYO7A	Pathogenic/Likely pathogenic	11	76868004	76868004	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278740
Indel	NM_000260.4(MYO7A):c.3564_3571delinsA (p.Tyr1188_Gly1191delinsTer)	MYO7A	Pathogenic	11	76900449	76900456	TGCCCGGG	A	criteria provided, single submitter	ClinGen:CA278742
Duplication	NM_138691.3(TMC1):c.215_219dup (p.Arg74fs)	TMC1	Pathogenic	9	75309608	75309609	A	AGGAGG	criteria provided, single submitter	ClinGen:CA273627
single nucleotide variant	NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)	MYO7A	Pathogenic	11	76895760	76895760	G	A	reviewed by expert panel	ClinGen:CA184505
single nucleotide variant	NM_000260.4(MYO7A):c.1A>G (p.Met1Val)	MYO7A	Likely pathogenic	11	76841681	76841681	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278743
single nucleotide variant	NM_016356.5(DCDC2):c.349-2A>G	DCDC2	Pathogenic	6	24302274	24302274	T	C	criteria provided, multiple submitters, no conflicts	OMIM:605755.0003,ClinGen:CA3654791