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
single nucleotide variant	NM_001379200.1(TBX1):c.1296C>G (p.Tyr432Ter)	TBX1	Likely pathogenic	22	19754171	19754171	C	G	criteria provided, single submitter	ClinGen:CA410684880
Duplication	NM_001379200.1(TBX1):c.1203_1222dup (p.Glu408fs)	TBX1	Pathogenic	22	19754074	19754075	G	GCCGGCCCAGTCCCCCGAACC	criteria provided, single submitter	ClinGen:CA16043162
single nucleotide variant	NM_001379200.1(TBX1):c.936-2A>G	TBX1	Pathogenic	22	19753423	19753423	A	G	criteria provided, single submitter	ClinGen:CA410683738
single nucleotide variant	NM_001379200.1(TBX1):c.935G>A (p.Trp312Ter)	TBX1	Pathogenic	22	19753348	19753348	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001379200.1(TBX1):c.823G>T (p.Glu275Ter)	TBX1	Pathogenic	22	19752592	19752592	G	T	criteria provided, single submitter	ClinGen:CA16621036
Duplication	NM_001379200.1(TBX1):c.525_528dup (p.Lys177delinsArgTer)	TBX1	Pathogenic	22	19750850	19750851	A	ACGAT	criteria provided, single submitter	ClinGen:CA10603687
single nucleotide variant	NM_001379200.1(TBX1):c.319A>T (p.Lys107Ter)	TBX1	Pathogenic	22	19748685	19748685	A	T	criteria provided, single submitter	ClinGen:CA410681602
Deletion	NC_000022.11:g.(?_19755950)_(19759697_?)del	TBX1	Pathogenic	22	19743473	19747220	na	na	criteria provided, single submitter	-
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
single nucleotide variant	NM_012452.3(TNFRSF13B):c.61+1G>T	TNFRSF13B	Pathogenic	17	16875328	16875328	C	A	criteria provided, single submitter	-