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.674G>A (p.Arg225His)	HGD	Pathogenic/Likely pathogenic	3	120363266	120363266	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277989,UniProtKB:Q93099#VAR_005281
single nucleotide variant	NM_000187.4(HGD):c.808G>A (p.Gly270Arg)	HGD	Pathogenic/Likely pathogenic	3	120360507	120360507	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340049,UniProtKB:Q93099#VAR_009620,OMIM:607474.0011
single nucleotide variant	NM_000187.4(HGD):c.899T>G (p.Val300Gly)	HGD	Pathogenic/Likely pathogenic	3	120357409	120357409	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA340043,UniProtKB:Q93099#VAR_005286,OMIM:607474.0002
Deletion	NM_000187.3(HGD):c.651_652delGG	HGD	Pathogenic	3	120363288	120363289	GCC	G	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_120633127)_(120633348_?)del	HGD	Pathogenic	3	120351974	120352195	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000187.4(HGD):c.1078G>C (p.Gly360Arg)	HGD	Pathogenic	3	120352104	120352104	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000187.4(HGD):c.189G>T (p.Arg63Ser)	HGD	Pathogenic	3	120389367	120389367	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA354081558
Indel	NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs)	HGD	Pathogenic	3	120352163	120352165	CTC	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040886
single nucleotide variant	NM_000187.4(HGD):c.360T>G (p.Cys120Trp)	HGD	Pathogenic	3	120369695	120369695	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA344906,UniProtKB:Q93099#VAR_073089
Duplication	NM_000187.4(HGD):c.1111dup (p.His371fs)	HGD	Pathogenic	3	120352070	120352071	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA344902