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_002241.5(KCNJ10):c.500C>T (p.Ala167Val)	KCNJ10	Pathogenic	1	160011823	160011823	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA118812,UniProtKB:P78508#VAR_063063,OMIM:602208.0005
single nucleotide variant	NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)	KCNJ10	Pathogenic/Likely pathogenic	1	160011434	160011434	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA118813,UniProtKB:P78508#VAR_063064,OMIM:602208.0006
single nucleotide variant	NM_002241.5(KCNJ10):c.229G>C (p.Gly77Arg)	KCNJ10	Likely pathogenic	1	160012094	160012094	C	G	criteria provided, single submitter	ClinGen:CA118814,UniProtKB:P78508#VAR_063060,OMIM:602208.0007
single nucleotide variant	NM_001854.4(COL11A1):c.3943G>T (p.Gly1315Ter)	COL11A1	Pathogenic	1	103379943	103379943	C	A	criteria provided, single submitter	OMIM:120280.0011
single nucleotide variant	NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys)	KCNJ10	Likely pathogenic	1	160012130	160012130	G	A	criteria provided, single submitter	ClinGen:CA129068,OMIM:602208.0010
Deletion	NM_013296.5(GPSM2):c.742del (p.Gly249fs)	GPSM2	Pathogenic/Likely pathogenic	1	109441560	109441560	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA213046,OMIM:609245.0004
single nucleotide variant	NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter)	GPSM2	Pathogenic/Likely pathogenic	1	109466682	109466682	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129927,OMIM:609245.0005
single nucleotide variant	NM_013296.5(GPSM2):c.1062+1G>T	GPSM2	Pathogenic	1	109445857	109445857	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA213047,OMIM:609245.0006
single nucleotide variant	NM_001854.4(COL11A1):c.3816+1G>A	COL11A1	Pathogenic	1	103381186	103381186	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA281108,OMIM:120280.0002,OMIM:120280.0012
copy number loss	GRCh38/hg38 1p21.1(chr1:102915924-102966355)x1	COL11A1	Pathogenic	1	103381480	103431911	na	na	criteria provided, single submitter	dbVar:nssv577217