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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 505659	NM_000065.5(C6):c.1879del (p.Asp627fs)	C6 (D627fs)	Deletion (frameshift variant)	Complement component 6 deficiency +1 more	GPathogenic
Select item 208565	NM_000065.5(C6):c.1786C>T (p.Arg596Ter)	C6 (R596*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 402460	NM_000065.5(C6):c.878T>G (p.Ile293Ser)	C6 (I293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1458860	NM_000065.5(C6):c.821del (p.Gln274fs)	C6 (Q274fs)	Deletion (frameshift variant)	Complement component 6 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 402458	NM_000065.5(C6):c.356C>A (p.Ala119Glu)	C6 (A119E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 402459	NM_000065.5(C6):c.-12G>A	C6	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign

ClinVar