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
Deletion	NM_000051.4(ATM):c.6228del (p.Leu2077fs)	ATM	Pathogenic	11	108188128	108188128	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA195069
Deletion	NM_000051.4(ATM):c.6433_6445del (p.Glu2145fs)	ATM	Pathogenic	11	108190764	108190776	TATGAAAGTCTCAA	T	criteria provided, single submitter	ClinGen:CA192250
Duplication	NM_000051.4(ATM):c.6436dup (p.Ser2146fs)	ATM	Pathogenic	11	108190766	108190767	G	GA	criteria provided, single submitter	ClinGen:CA192448
Deletion	NM_000051.4(ATM):c.7465_7466del (p.Ser2489fs)	ATM	Pathogenic	11	108201098	108201099	TTC	T	criteria provided, single submitter	ClinGen:CA197654
single nucleotide variant	NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro)	ATM	Pathogenic/Likely pathogenic	11	108202225	108202225	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA198094
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