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_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter)	DIAPH1	Pathogenic	5	140903734	140903734	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576652,OMIM:602121.0005
single nucleotide variant	NM_001038603.3(MARVELD2):c.1331+1G>A	MARVELD2	Pathogenic	5	68728503	68728503	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3294229,OMIM:610572.0005
single nucleotide variant	NM_004100.5(EYA4):c.371-2A>C	EYA4	Likely pathogenic	6	133782250	133782250	A	C	criteria provided, single submitter	ClinGen:CA10576681
single nucleotide variant	NM_004999.4(MYO6):c.458C>G (p.Ser153Ter)	MYO6	Pathogenic	6	76542625	76542625	C	G	criteria provided, single submitter	ClinGen:CA10576702
Deletion	NM_004999.4(MYO6):c.2814_2815del (p.Arg939fs)	MYO6	Pathogenic	6	76599926	76599927	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3897461
single nucleotide variant	NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter)	MYO6	Pathogenic/Likely pathogenic	6	76599954	76599954	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576708
Deletion	NM_004403.2(GSDME):c.(?_863)-60_(1257_?)+61del	GSDME	Likely pathogenic	7	24742318	24747933	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000441.2(SLC26A4):c.1544+1G>A	SLC26A4	Pathogenic/Likely pathogenic	7	107336485	107336485	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576713
single nucleotide variant	NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)	SLC26A4	Pathogenic/Likely pathogenic	7	107350580	107350580	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA4433064
Deletion	NM_000441.2(SLC26A4):c.2224del (p.Ile742fs)	SLC26A4	Pathogenic	7	107350633	107350633	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576715