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_000051.4(ATM):c.8988-2A>C	ATM	Likely pathogenic	11	108236050	108236050	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter)	ATM	Likely pathogenic	11	108236173	108236173	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.5178-1G>A	ATM	Pathogenic/Likely pathogenic	11	108172374	108172374	G	A	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)	ATM	Pathogenic/Likely pathogenic	11	108172484	108172485	T	TAG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.5433T>A (p.Cys1811Ter)	ATM	Likely pathogenic	11	108173693	108173693	T	A	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.5896dup (p.Ser1966fs)	ATM	Likely pathogenic	11	108181016	108181017	G	GA	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.6325dup (p.Trp2109fs)	ATM	Pathogenic/Likely pathogenic	11	108188225	108188226	G	GT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.8106dup (p.Asp2703fs)	ATM	Likely pathogenic	11	108205790	108205791	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)	ATM	Pathogenic/Likely pathogenic	11	108119714	108119714	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.3024dup (p.Glu1009Ter)	ATM	Pathogenic/Likely pathogenic	11	108142079	108142080	C	CT	criteria provided, multiple submitters, no conflicts	-