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.9005del (p.Phe3002fs)	ATM	Pathogenic	11	108236067	108236067	GT	G	criteria provided, single submitter	ClinGen:CA10579332
single nucleotide variant	NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)	ATM	Pathogenic/Likely pathogenic	11	108236083	108236083	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579335
Duplication	NM_000051.4(ATM):c.9021dup (p.Arg3008fs)	ATM	Pathogenic/Likely pathogenic	11	108236083	108236084	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579336
Deletion	NM_000051.4(ATM):c.192del (p.Leu64fs)	ATM	Pathogenic/Likely pathogenic	11	108099911	108099911	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582781
Deletion	NM_000051.4(ATM):c.289del (p.Ile97fs)	ATM	Pathogenic/Likely pathogenic	11	108100006	108100006	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582783
single nucleotide variant	NM_000051.4(ATM):c.1240C>T (p.Gln414Ter)	ATM	Pathogenic	11	108121432	108121432	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582793
single nucleotide variant	NM_000051.4(ATM):c.2466+2T>A	ATM	Likely pathogenic	11	108129804	108129804	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582805
single nucleotide variant	NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)	ATM	Pathogenic	11	108160488	108160488	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265441
Duplication	NM_000051.4(ATM):c.5203dup (p.Thr1735fs)	ATM	Pathogenic	11	108172399	108172400	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582826
Deletion	NM_000051.4(ATM):c.5443del (p.Asp1815fs)	ATM	Pathogenic	11	108173702	108173702	TG	T	criteria provided, single submitter	ClinGen:CA6265698