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_001199107.2(TBC1D24):c.439G>C (p.Asp147His)	TBC1D24	Pathogenic	16	2546588	2546588	G	C	criteria provided, single submitter	ClinGen:CA339785,UniProtKB:Q9ULP9#VAR_064365,OMIM:613577.0001
single nucleotide variant	NM_001080476.3(GRXCR1):c.628-9C>A	GRXCR1	Pathogenic	4	43022362	43022362	C	A	criteria provided, single submitter	ClinGen:CA114031,OMIM:613283.0001
single nucleotide variant	NM_001384474.1(LOXHD1):c.2008C>T (p.Arg670Ter)	LOXHD1	Pathogenic	18	44152088	44152088	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251486,OMIM:613072.0001
single nucleotide variant	NM_001393500.2(TOMT):c.143G>A (p.Arg48Gln)	LRTOMT	Pathogenic	11	71817140	71817140	G	A	criteria provided, multiple submitters, no conflicts	OMIM:612414.0002,ClinGen:CA251495,UniProtKB:Q8WZ04#VAR_054955
single nucleotide variant	NM_001038603.3(MARVELD2):c.1183-1G>A	MARVELD2	Likely pathogenic	5	68728353	68728353	G	A	criteria provided, single submitter	OMIM:610572.0001
single nucleotide variant	NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)	MARVELD2	Pathogenic/Likely pathogenic	5	68728915	68728915	C	T	criteria provided, multiple submitters, no conflicts	OMIM:610572.0004,ClinGen:CA114831
single nucleotide variant	NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp)	PJVK	Pathogenic	2	179320876	179320876	C	T	criteria provided, multiple submitters, no conflicts	OMIM:610219.0001,ClinGen:CA251743,UniProtKB:Q0ZLH3#VAR_027388
single nucleotide variant	NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter)	PJVK	Pathogenic/Likely pathogenic	2	179320828	179320828	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251745,OMIM:610219.0004
single nucleotide variant	NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter)	TRIOBP	Pathogenic	22	38119602	38119602	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251848,OMIM:609761.0001
single nucleotide variant	NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter)	TRIOBP	Pathogenic	22	38121912	38121912	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251858,OMIM:609761.0006