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.4612-3_4616del	ATM	Pathogenic/Likely pathogenic	11	108164033	108164040	ATATTTAGG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8269-1G>C	ATM	Pathogenic/Likely pathogenic	11	108213948	108213948	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.901+2T>C	ATM	Pathogenic/Likely pathogenic	11	108115755	108115755	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.5674+1G>T	ATM	Pathogenic/Likely pathogenic	11	108175580	108175580	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001330368.2(C11orf65):c.641-6771_641-6749dup	ATM	Pathogenic	11	108186546	108186547	T	TCAGGATCTTCTCTTAGAAATCTA	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)	ATM	Pathogenic/Likely pathogenic	11	108127008	108127009	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)	ATM	Likely pathogenic	11	108188181	108188181	G	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.6808-242_7516-275del	ATM	Pathogenic	11	108196543	108201896	TTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACAGACAGACAGATAGGCAGACGTGGGGTGGGGAGATGTCATGCAGACAGAGAGGTCCTTAAGATAGTCCCTGACAAGTAGTTAAGTCCTCAATGAATGGTAGTTGCTGCTTTCATTATTATTATTATTCATGGTAGTAGTATCAGTAGTAAAAGTATTTATTCCCATATGTCATTTTCATTTCAGCTCCCTGAAAGGGCAATATTTCAAATTAAACAGTACAATTCAGTTAGCTGTGGAGTCTCTGAGTGGCAGCTGGAAGAAGCACAAGTATTCTGGGCAAAAAAGGAGCAGAGTCTTGCCCTGAGTATTCTCAAGCAAATGATCAAGAAGTTGGATGCCAGCTGTGCAGCGGTTTGTTTTTTTTATTGGCTGGATTAGTGTTTTACTGTTATTTAAAAAAACACAAATGTACTTTAAAATATTTTTAATAACAATTTTATTAGAGCCTTGAAATTAGTAATTTATTAACAAGATATTGTAAAACTAGTCTTGAAAATTAATTTGTAAATGAAGTTTAGAAACTTTTTCCTATATATCACAATTCTATCAGTCCATCATGTGGTCGATTCATTTAATATATCCCAGTATTAAGCCTTTAACTTCCTATAGAATTCAAGAAAGGTATGTGGGAAATGAATGAAATAGCTACTCTAAATTTGAAATGACAAGTGAAAAAAGGGAAGAGGAAATGAATGAGAGAACTAAATTAGAAAATAAAAGCAAGTTGGGACAATTAGGTTGTCAATCCAAATGCTTTGAAAATATCACATCTAATATTTTATCTAACATTACCTGTTGGTTTTTGCAAACTTATGTTGCTACTTCAGCTGTAAACCCAGCATACACACTGGATAAAGTAGAGGCATTGGTGTCCCCAAGGTTTGTCTACAGTGGTGTCCCACAGACATGTACCTGCTTAGTGAATATCAGCTCACTGTGCTTTATTATTTATTTATTTATTTATTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACGACATCGGCTCACCGCAACCTCCACCTCCCTGGTTCAAGCAATTCCCCTGCCTCAGCCTCCCTTGTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCAAGACTGGTCTCGAACTCCTGAGCTCAGGCAATCTACCCGCCTTGTCCTCTGAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTTTACTGTACTTTTTGATGTTGGGCACTCATTGTATAGCATCTTCTGTTATTAGAGAAATCATTATACCAAAGCACTGAGTGCCAATATGATATGTGTAAATATTGCTTAATAGTATTGGCCCTGAAGTATGTGCTGTCTGGAGTTACCCAACTTCCTTGTACCTCAGTTTTCTAATCTGCAAATTGGGGTAATAATAGTACTTATTTAATAGGATTCTTGTGAGAATTAAATGAGTTAATATATATAAAGCCTTTACAAAGTGTCTGACATATATAAGTACTCAATAAATGTGACTTGCTCCAATAATGGCAATAATAATAATAAACAGAGGATGATCATTTCCTACATGGGATTATTAAAATAGTTGTATGGCAAAAGCAGATGAGGAAAAACTTTTTTTTTCCCACCCACCAAGGAAAAACATTTTTAACCTGCTTTTTTCCCCGTACATGAAGGGCAGTTGGGTACAGTCATGGTAATGCATTATATTTTAAGATTTTGCCTTTCTTATACAGAACAATCCCAGCCTAAAACTTACATACACAGAATGTCTGAGGGTTTGTGGCAACTGGTTAGCAGAAACGTGCTTAGAAAATCCTGCGGTCATCATGCAGACCTATCTAGAAAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTTAGCATGAATATGCTTCATCTTTTCATCAAGATCAATATATTTCCAAAGCAAATAAAAGTATGGTTTTATTTTTCTATATATTATTACTGTTGTAGCTCTGTATAGTCTCTAGGGTGGAGTGAAACATTGTTACAAAACAAAGCAGCCAATTTTGAAAGTAAGCCCAAGTATAGTATCTCTTCTTCCTCCTTCCTACCTCCACTACCAGCTACCCTTTCAGCAGGTTGCTTCTGATCATTTCTTCATTTATGCATCTACAAAAATAACTGATTAAGAATAGGCAAGTCAGCCCTTGCTCTTCATTAGCCCAGCCACCCACAAGTAAAGGCTTCAATATACTAGCCCCTTTGACTTTCCTGTTTCTCCCTCTTATTCCTTTAGATTCACTAATTTTGGAAATAGTTACCTCACTAAATAAGTGTAACATGAAACACATGATGCGATTGTCTTTCTTTTCTTTTCTTTTCTTTGAGATGAAGTCTCTCTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGAGTGTGCCACCACACCCGGCTAATATTTTTTATTTTTAGTAGAGACGGTTTCGCCACATTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCACACCCAGCCTGATTGTCTTTAAATTTTATAAAGTTCTCTGTTTTTGCAGAGTTCTTTACAAGTATTAGCTGTCTGGGTTATTTCTACACTGTCAAAGTTGTTTTGAAAAGTCAAGAAAATACCATAGTTCAGGGCTGTCCAATCTTTTGGCTTCCCTGGGCCACATTGCAAGAAGAATTGCCTTGGGCCACACATAAAATATACTAACATTAATGATAGCTAATGAGCTTAAAAAAAATCACAAAAGAAATCTCATAATGTTTTAAGAAAATGTACGAATTTGTGTTGGGCCACATTCAAAGCCGTCCTGGGCCACATGCGGCCCATGGGCCGTGGGTTGGACAAGTTTGCAATAGTTCATATAATTTAGCTAGCTTTTATATGTATATAAGTTAAATTTTAGTGTATTACCTTAATTTGAGTGATTCTTTAGATGTATTTAGTATTTGTAAATATAATTTAAATTGGTTGTGTTTTCTTGAAGGCAGTAGAAGTTGCTGGAAATTATGATGGAGAAAGTAGTGATGAGCTAAGAAATGGAAAAATGAAGGCATTTCTCTCATTAGCCCGGTTTTCAGATACTCAATACCAAAGAATTGAAAACTACATGAAATCATCGGAATTTGAAAACAAGCAAGCTCTCCTGAAAAGAGCCAAAGAGGAAGTAGGTCTCCTTAGGGAACATAAAATTCAGACAAACAGGTAACTAGGTTTCTACAAGTGACAATTTTATGTTCACCAGTTAACTGAGTGAGTGTTTTTGCATAGAAAGAGTGACTTGGTCTTTTTATCTGATATAGTTTTGAGCTCTAAAGGTCGGCTTAACTATATATAGATTATCTTGGTCTTTTGGGTTCTTTTCGGTTTTTGTTTTTTGTTTTTTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCACTGTACTCCAGCTCACTGCAACCTCGACCTCCTGGACTCAATTGATTCTCCCCCTGAGCCCCCGAAATAGCTGGGGCTACAGGTGCACGCCATACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGTTGGTCTCAAACTCATGGGCTCAAACGATCTGCCCACCTTGGCCGCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTGCCCTGTCTGTCTTGGTCCTACTGTAGTTAATCACAAATTAGTATGTAAGATATTGACGTGTTCTTTTGTGAATAATTCATGCTCTGCTTCTAAGTTCATTGTGGAGAATATAGATATTAGCTTTCTGTTTTGCTTTTTTGGTTTGTTTGTTGGTATCATAGTGGAAAAGGAGATAGATATTGAAATTAATTACAAAAGTTACCTATTTTGATGTAATTAAATCCCTTTATTTAAGCCTGTCTTGAATCTGTATATTTTAGTGTAAGCAGAGGTGTAAGTTAGCTAAATAGCTTGGGGAGAGTCCCCTTTGTCCTTTGATGCTTAGGAAGGTGTGTGAATTGCACAGTTAAGACAAAAGTAAGTTTATTCCCTTTATAATCCTTAGAAGTTTGCTTTTTTCCCTGGGATAAAAACCCAACTTTTTTCATTAAATGTTGTATATCATGTGTGATTTTGTAGTTCTGTTAAAGTTCATGGCTTTTGTGTTTTACCTTAATTATTCTATGCAAGATACACAGTAAAGGTTCAGCGAGAGCTGGAGTTGGATGAATTAGCCCTGCGTGCACTGAAAGAGGATCGTAAACGCTTCTTATGTAAAGCAGTTGAAAATTATATCAACTGCTTATTAAGTGGAGAAGAACATGATATGTGGGTATTCCGACTTTGTTCCCTCTGGCTTGAAAATTCTGGAGTTTCTGAAGTCAATGGCATGATGAAGGCAAGTGTTACTCAGCCCAATATTCTACCCTGTGCTTGAAAAACTTAGACATAAGCCCCTTGATGTCAGGAATCGTGTATACCTCTTTGTATTCCTAGCACTTGGTCCAGTGCTCTACACATAAGTAGCATTTTGTAGTTTTCTAAACTTTGATCCATATTTAGGATTATTTACAAGTTCTAGTCTTGTTTCTACAAAAGTTCCTTTGTATTATATAAGCTGACAAGCTGTAAATGATGCAAGTTTGTGTGGAGGTGATAGAATTTAGCTTGGTCCTATGTCTTTGCAGTTACCATAGGAGAGGGTCTAGAATGGGGCATTAGATTGGAGGATTTAGAAAGCAGTTAAAGATGATGTGATCACAGGTGGGTTTTCCCCCTGCTGCAGAAATATGGGATTTTTACAATAAATTACTTTTGTAAGTAGAGAAAATATATTTTTCAGAAAATGTCAAGACAGCAGTATTGTATAAGTTTTTCTTTGAAAACCTTAGATTATAGTGATGACACCTAATATTAAATTTAAGTTGACAAGCTATATATTGTTAGTCAATTTGAAGGTTAGAGATAAAATGTTTCTCCTGCAGGAAAATAATAAGACTCATAATAGATACAGTCAATCTCTGCTGTAGTATACACTAAATATTACTTTTGGCCTATGGGGAAAAGCAATTACTTCATTTTATTGTACACTGACTTCTCAGGAATCAAGATCACAGTCACACTCAGATCACATTTGTCTTCCTTAG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.467G>A (p.Trp156Ter)	ATM	Pathogenic	11	108106532	108106532	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.27del (p.Ile10fs)	ATM	Pathogenic	11	108098377	108098377	CT	C	criteria provided, single submitter	-