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.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_000187.4(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.970dup (p.Val324fs)	HGD	Pathogenic/Likely pathogenic	3	120357337	120357338	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040887
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
Duplication	NM_000187.4(HGD):c.1064dup (p.Gly356fs)	HGD	Likely pathogenic	3	120352117	120352118	A	AC	criteria provided, single submitter	ClinGen:CA16040885
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.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
Duplication	NM_000187.4(HGD):c.1111dup (p.His371fs)	HGD	Pathogenic	3	120352070	120352071	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA344902
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.1188+1G>T	HGD	Pathogenic/Likely pathogenic	3	120351993	120351993	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2559950