アルカプトン尿症

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_000187.4(HGD):c.1112A>G (p.His371Arg)	HGD	Likely pathogenic	3	120352070	120352070	T	C	criteria provided, single submitter	ClinGen:CA277917,UniProtKB:Q93099#VAR_008745,OMIM:607474.0008
single nucleotide variant	NM_000187.4(HGD):c.342+1G>A	HGD	Likely pathogenic	3	120371438	120371438	C	T	criteria provided, single submitter	ClinGen:CA344905
Duplication	NM_000187.4(HGD):c.1064dup (p.Gly356fs)	HGD	Likely pathogenic	3	120352117	120352118	A	AC	criteria provided, single submitter	ClinGen:CA16040885
Deletion	NM_000187.4(HGD):c.956del (p.Pro319fs)	HGD	Likely pathogenic	3	120357352	120357352	TG	T	criteria provided, single submitter	ClinGen:CA16040888
Duplication	NM_000187.4(HGD):c.781dup (p.Ser261fs)	HGD	Likely pathogenic	3	120360533	120360534	G	GA	criteria provided, single submitter	ClinGen:CA16040889
single nucleotide variant	NM_000187.4(HGD):c.649+2T>C	HGD	Likely pathogenic	3	120365112	120365112	A	G	criteria provided, single submitter	ClinGen:CA16040890
Deletion	NM_000187.4(HGD):c.409del (p.Leu137fs)	HGD	Likely pathogenic	3	120369646	120369646	AG	A	criteria provided, single submitter	ClinGen:CA16040891
Deletion	NM_000187.4(HGD):c.390del (p.Ala132fs)	HGD	Likely pathogenic	3	120369665	120369665	GC	G	criteria provided, single submitter	ClinGen:CA16040892
Deletion	NM_000187.4(HGD):c.376_377del (p.Lys126fs)	HGD	Likely pathogenic	3	120369678	120369679	CTT	C	criteria provided, single submitter	ClinGen:CA16040893
Deletion	NM_000187.4(HGD):c.346del (p.Leu116fs)	HGD	Likely pathogenic	3	120369709	120369709	AG	A	criteria provided, single submitter	ClinGen:CA16040894