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	NM_000051.4(ATM):c.475del (p.Ile159fs)	ATM	Pathogenic	11	108106538	108106538	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656161
Deletion	NM_000051.4(ATM):c.2624del (p.Ser875fs)	ATM	Pathogenic	11	108138055	108138055	AG	A	criteria provided, single submitter	ClinGen:CA658656244
single nucleotide variant	NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter)	ATM	Pathogenic	11	108163496	108163496	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA382533971
Duplication	NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)	ATM	Pathogenic/Likely pathogenic	11	108119702	108119703	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656209
single nucleotide variant	NM_000051.4(ATM):c.3403-1G>A	ATM	Likely pathogenic	11	108151721	108151721	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382518811
Duplication	NM_000051.4(ATM):c.1358dup (p.Tyr454fs)	ATM	Pathogenic	11	108121548	108121549	A	AC	criteria provided, single submitter	ClinGen:CA658656141
Deletion	NM_000051.4(ATM):c.1435_1436del (p.Asp479fs)	ATM	Pathogenic/Likely pathogenic	11	108121626	108121627	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656143
Deletion	NM_000051.4(ATM):c.1512del (p.Phe505fs)	ATM	Pathogenic	11	108121704	108121704	AC	A	criteria provided, single submitter	ClinGen:CA658656151
Deletion	NM_000051.4(ATM):c.5185del (p.Val1729fs)	ATM	Pathogenic	11	108172382	108172382	AG	A	criteria provided, single submitter	ClinGen:CA658656241
Deletion	NM_000051.4(ATM):c.454del (p.Ser151_Val152insTer)	ATM	Pathogenic	11	108106519	108106519	TG	T	criteria provided, single submitter	ClinGen:CA658656158