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.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_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.595C>T (p.Arg199Ter)	KCNJ10	Pathogenic/Likely pathogenic	1	160011728	160011728	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA118808,OMIM:602208.0002
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
Deletion	NM_002700.3(POU4F3):c.502del (p.Ala168fs)	POU4F3	Pathogenic/Likely pathogenic	5	145719491	145719491	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3491147
single nucleotide variant	NM_002039.4(GAB1):c.347G>A (p.Gly116Glu)	GAB1	Pathogenic	4	144336904	144336904	G	A	criteria provided, single submitter	OMIM:604439.0001
copy number loss	GRCh37/hg19 5q31.3(chr5:140953993-140992629)	DIAPH1	Pathogenic	5	140953993	140992629	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_005219.5(DIAPH1):c.627C>A (p.Tyr209Ter)	DIAPH1	Pathogenic	5	140961936	140961936	G	T	criteria provided, single submitter	ClinGen:CA361540052
Indel	NM_005219.5(DIAPH1):c.1971_1972delinsT (p.Leu657fs)	DIAPH1	Pathogenic	5	140953445	140953446	GC	A	criteria provided, single submitter	ClinGen:CA16618132
single nucleotide variant	NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)	DIAPH1	Pathogenic	5	140953085	140953085	G	A	criteria provided, single submitter	ClinGen:CA210348,OMIM:602121.0002