"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183696	NM_002485.5(NBN):c.2016A>G (p.Pro672=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign
Select item 258768	NM_002485.5(NBN):c.1915-7A>G	NBN	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 183701	NM_002485.5(NBN):c.1197T>C (p.Asp399=)	NBN	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 134876	NM_002485.5(NBN):c.553G>C (p.Glu185Gln)	NBN (E185Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 132744	NM_002485.5(NBN):c.381T>C (p.Ala127=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +5 more	GBenign/Likely benign
Select item 142203	NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	NBN (R43*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 183697	NM_002485.5(NBN):c.102G>A (p.Leu34=)	NBN	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign

ClinVar