無セルロプラスミン血症

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_000096.4(CP):c.607+1del	CP	Pathogenic/Likely pathogenic	3	148927953	148927953	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2661285
single nucleotide variant	NM_000096.4(CP):c.2879-1G>T	CP	Likely pathogenic	3	148895767	148895767	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA85528141
single nucleotide variant	NM_000096.4(CP):c.2756T>C (p.Leu919Pro)	CP	Pathogenic/Likely pathogenic	3	148896324	148896324	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA354929700
single nucleotide variant	NM_000096.4(CP):c.1208+1G>A	CP	Pathogenic	3	148923954	148923954	C	T	criteria provided, single submitter	ClinGen:CA354912612
Deletion	NC_000003.12:g.(?_149206148)_(149206359_?)del	CP	Pathogenic	3	148923935	148924146	na	na	criteria provided, single submitter	-
Deletion	NM_000096.4(CP):c.48del (p.Ala17fs)	CP	Likely pathogenic	3	148939532	148939532	CT	C	criteria provided, single submitter	-
Duplication	NM_000096.4(CP):c.2702dup (p.Arg902fs)	CP	Pathogenic	3	148896377	148896378	T	TC	criteria provided, single submitter	-
single nucleotide variant	NM_000096.4(CP):c.2253G>A (p.Trp751Ter)	CP	Pathogenic	3	148903058	148903058	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000096.4(CP):c.2498C>G (p.Ser833Ter)	CP	Pathogenic	3	148899848	148899848	G	C	criteria provided, single submitter	-
Deletion	NM_000096.4(CP):c.1613del (p.Met538fs)	CP	Pathogenic	3	148916254	148916254	CA	C	criteria provided, single submitter	-