原発性免疫不全症候群

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.8036_8051del (p.Asn2679fs)	ATM	Pathogenic	11	108205720	108205735	AAATCTGGTGACTATAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA192972
Deletion	NM_000051.4(ATM):c.8251_8254del (p.Thr2751fs)	ATM	Pathogenic	11	108206669	108206672	TTAAC	T	criteria provided, single submitter	ClinGen:CA191745
single nucleotide variant	NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)	ATM	Pathogenic/Likely pathogenic	11	108213973	108213973	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA194563,UniProtKB:Q13315#VAR_010876
Deletion	NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs)	ATM	Pathogenic	11	108213982	108213994	TGAATGGTGCACAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA192423
Indel	NM_000051.4(ATM):c.8367delinsTT (p.Lys2789fs)	ATM	Pathogenic	11	108214047	108214047	A	TT	criteria provided, multiple submitters, no conflicts	ClinGen:CA192805
Duplication	NM_000051.4(ATM):c.8432dup (p.Ser2812fs)	ATM	Pathogenic	11	108216476	108216477	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA196792
Duplication	NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs)	ATM	Pathogenic	11	108216524	108216525	C	CAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA196050
single nucleotide variant	NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)	ATM	Likely pathogenic	11	108224532	108224532	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA194327,UniProtKB:Q13315#VAR_010889
single nucleotide variant	NM_000051.4(ATM):c.8786+1G>C	ATM	Pathogenic	11	108224608	108224608	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA196631
single nucleotide variant	NM_000051.4(ATM):c.8786+1G>T	ATM	Pathogenic/Likely pathogenic	11	108224608	108224608	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA189911