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.6080del (p.Leu2027fs)	ATM	Pathogenic	11	108186622	108186622	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613460
Duplication	NM_000051.4(ATM):c.6463_6478dup (p.Lys2160delinsSerGlyArgAspValTer)	ATM	Pathogenic	11	108192036	108192037	A	AAGTGGAAGAGATGTGT	criteria provided, single submitter	ClinGen:CA16613471
Deletion	NM_000051.4(ATM):c.7293_7294del (p.Lys2431fs)	ATM	Pathogenic	11	108199949	108199950	TAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613490
single nucleotide variant	NM_000051.4(ATM):c.8122G>C (p.Asp2708His)	ATM	Likely pathogenic	11	108205807	108205807	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613497
single nucleotide variant	NM_000051.4(ATM):c.8418+2T>C	ATM	Likely pathogenic	11	108214100	108214100	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613510
Deletion	NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs)	ATM	Pathogenic	11	108216485	108216486	GTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266370
Indel	NM_000051.4(ATM):c.561_562delinsT (p.Ala188fs)	ATM	Pathogenic	11	108114744	108114745	GG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619097
single nucleotide variant	NM_000051.4(ATM):c.902-1G>T	ATM	Pathogenic	11	108117690	108117690	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619104
single nucleotide variant	NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)	ATM	Pathogenic	11	108119802	108119802	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619109
single nucleotide variant	NM_000051.4(ATM):c.1236-2A>G	ATM	Pathogenic	11	108121426	108121426	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619112