遺伝性乳がん (ATM/CHEK2)

腫瘍性疾患

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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_007194.4(CHEK2):c.320-1G>T	CHEK2	Likely pathogenic	22	29121356	29121356	C	A	criteria provided, multiple submitters, no conflicts	-
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	-
Insertion	NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)	CHEK2	Pathogenic/Likely pathogenic	22	29091210	29091211	A	AG	criteria provided, multiple submitters, no conflicts	-
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	-
single nucleotide variant	NM_000051.4(ATM):c.6108T>A (p.Tyr2036Ter)	ATM	Pathogenic	11	108186750	108186750	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.50_51del (p.His17fs)	ATM	Pathogenic	11	108098401	108098402	CAT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.191T>G (p.Leu64Ter)	ATM	Pathogenic	11	108099910	108099910	T	G	criteria provided, single submitter	-