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.8325del (p.Ile2776fs)	ATM	Pathogenic	11	108214002	108214002	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588511
Deletion	NM_000051.4(ATM):c.8564del (p.Ser2855fs)	ATM	Likely pathogenic	11	108216615	108216615	AG	A	criteria provided, single submitter	ClinGen:CA10588512
single nucleotide variant	NM_000051.4(ATM):c.8851-2A>G	ATM	Likely pathogenic	11	108235807	108235807	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588513
single nucleotide variant	NM_000051.4(ATM):c.663-2A>G	ATM	Likely pathogenic	11	108115513	108115513	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603087
Deletion	NM_000051.4(ATM):c.4405del (p.Ile1469fs)	ATM	Likely pathogenic	11	108160497	108160497	TA	T	criteria provided, single submitter	ClinGen:CA10603089
single nucleotide variant	NM_000051.4(ATM):c.8672-1G>C	ATM	Pathogenic/Likely pathogenic	11	108224492	108224492	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603097
Duplication	NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)	ATM	Pathogenic	11	108119732	108119733	T	TACAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603226
Duplication	NM_000051.4(ATM):c.7010_7065dup (p.Ile2356delinsValTer)	ATM	Pathogenic	11	108198405	108198406	T	TGTCTGAGGGTTTGTGGCAACTGGTTAGCAGAAACGTGCTTAGAAAATCCTGCGGTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603232
Deletion	NM_000051.4(ATM):c.588del (p.Gly197fs)	ATM	Likely pathogenic	11	108114769	108114769	CA	C	criteria provided, single submitter	ClinGen:CA16041382
single nucleotide variant	NM_000051.4(ATM):c.877A>T (p.Lys293Ter)	ATM	Pathogenic/Likely pathogenic	11	108115729	108115729	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041383