原発性免疫不全症候群

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	NC_000022.11:g.(?_19755950)_(19759697_?)del	TBX1	Pathogenic	22	19743473	19747220	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_19755901)_(19766877_?)del	TBX1	Pathogenic	22	19743424	19754400	na	na	criteria provided, single submitter	-
Indel	NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter)	TNFRSF13B	Pathogenic	17	16843689	16843690	GG	TT	criteria provided, multiple submitters, no conflicts	ClinGen:CA117394,OMIM:604907.0005
single nucleotide variant	NM_012452.3(TNFRSF13B):c.431C>A (p.Ser144Ter)	TNFRSF13B	Pathogenic	17	16852066	16852066	G	T	criteria provided, single submitter	ClinGen:CA117397,OMIM:604907.0006
single nucleotide variant	NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter)	TNFRSF13B	Pathogenic/Likely pathogenic	17	16843779	16843779	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA203874
single nucleotide variant	NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter)	TNFRSF13B	Pathogenic	17	16852066	16852066	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA8414017
Deletion	NM_012452.3(TNFRSF13B):c.49del (p.Gln17fs)	TNFRSF13B	Pathogenic/Likely pathogenic	17	16875341	16875341	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798719
Duplication	NM_012452.3(TNFRSF13B):c.572dup (p.Asp191fs)	TNFRSF13B	Pathogenic	17	16843698	16843699	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter)	TNFRSF13B	Pathogenic	17	16843692	16843692	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr)	TNFRSF13B	Pathogenic/Likely pathogenic	17	16852186	16852186	C	T	criteria provided, multiple submitters, no conflicts	-