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
Duplication	NM_001379200.1(TBX1):c.1360_1381dup (p.Pro461fs)	TBX1	Likely pathogenic	22	19754233	19754234	A	ACGGCTACCACCCGCACGCGCAT	criteria provided, single submitter	ClinGen:CA16621037
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
Deletion	NC_000022.10:g.(?_18900668)_(19770565_?)del	TBX1	Pathogenic	22	18900668	19770565	na	na	criteria provided, single submitter	-
Deletion	NM_001379200.1(TBX1):c.1336_1337del (p.Pro446fs)	TBX1	Likely pathogenic	22	19754210	19754211	ACC	A	criteria provided, single submitter	ClinGen:CA658799490
single nucleotide variant	NM_001379200.1(TBX1):c.936-2A>G	TBX1	Pathogenic	22	19753423	19753423	A	G	criteria provided, single submitter	ClinGen:CA410683738
Deletion	NC_000022.10:g.(?_18910310)_(19770565_?)del	TBX1	Pathogenic	22	18910310	19770565	na	na	criteria provided, single submitter	-
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.(?_19755901)_(19783042_?)del	TBX1	Pathogenic	22	19743424	19770565	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_19722428)_(19975757_?)del	TBX1	Pathogenic	22	19709951	19963280	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001379200.1(TBX1):c.935G>A (p.Trp312Ter)	TBX1	Pathogenic	22	19753348	19753348	G	A	criteria provided, single submitter	-