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.3952del (p.Val1318fs)	ATM	Pathogenic/Likely pathogenic	11	108155158	108155158	AG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.3955_3958dup (p.Asp1320delinsValTer)	ATM	Pathogenic	11	108155161	108155162	C	CTATG	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.4011del (p.Ser1338fs)	ATM	Pathogenic	11	108158343	108158343	AT	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.4280del (p.Ala1427fs)	ATM	Pathogenic	11	108160372	108160372	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter)	ATM	Pathogenic	11	108160475	108160475	G	A	criteria provided, single submitter	-
Indel	NM_000051.4(ATM):c.4402_4403delinsA (p.Val1468fs)	ATM	Pathogenic	11	108160494	108160495	GT	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.4669del (p.Ile1557fs)	ATM	Pathogenic	11	108164097	108164097	TA	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.5076del (p.Asp1693fs)	ATM	Pathogenic	11	108170509	108170509	TA	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.5286_5293del (p.Tyr1763fs)	ATM	Pathogenic	11	108172482	108172489	GCCTATCTA	G	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)	ATM	Pathogenic	11	108173612	108173615	ACCCT	A	criteria provided, multiple submitters, no conflicts	-