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.688C>T (p.Pro230Ser)	HGD	Pathogenic	3	120363252	120363252	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340042,UniProtKB:Q93099#VAR_005283,OMIM:607474.0001
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
single nucleotide variant	NM_000187.4(HGD):c.481G>A (p.Gly161Arg)	HGD	Pathogenic	3	120365888	120365888	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340044,UniProtKB:Q93099#VAR_005278,OMIM:607474.0003
Duplication	NM_000187.4(HGD):c.457dup (p.Asp153fs)	HGD	Pathogenic	3	120366735	120366736	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA340045,OMIM:607474.0004,OMIM:607474.0010
single nucleotide variant	NM_000187.4(HGD):c.16-1G>A	HGD	Pathogenic	3	120394711	120394711	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340046,OMIM:607474.0005
Deletion	NM_000187.4(HGD):c.175del (p.Ser59fs)	HGD	Pathogenic	3	120393749	120393749	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA340047,OMIM:607474.0006
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.1102A>G (p.Met368Val)	HGD	Pathogenic	3	120352080	120352080	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA340048,UniProtKB:Q93099#VAR_005287,OMIM:607474.0009
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
Duplication	NM_000187.4(HGD):c.1111dup (p.His371fs)	HGD	Pathogenic	3	120352070	120352071	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA344902