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
Deletion	NM_000187.4(HGD):c.956del (p.Pro319fs)	HGD	Likely pathogenic	3	120357352	120357352	TG	T	criteria provided, single submitter	ClinGen:CA16040888
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.879+1G>A	HGD	Likely pathogenic	3	120360435	120360435	C	T	criteria provided, single submitter	-
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.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.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.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
Deletion	NM_000187.4(HGD):c.652del	HGD	Pathogenic/Likely pathogenic	3	120363288	120363288	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA277987
Deletion	NM_000187.3(HGD):c.651_652delGG	HGD	Pathogenic	3	120363288	120363289	GCC	G	criteria provided, single submitter	-
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