"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 731376	NM_000065.5(C6):c.2518G>A (p.Gly840Ser)	C6 (G840S)	Single nucleotide variant (missense variant)	C6-related disorder +1 more	GBenign/Likely benign
Select item 379370	NM_000065.5(C6):c.2381+2T>C	C6	Single nucleotide variant (splice donor variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1170475	NM_000065.5(C6):c.2067C>T (p.Asp689=)	C6	Single nucleotide variant (synonymous variant)	C6-related disorder +1 more	GBenign
Select item 1328223	NM_000065.5(C6):c.1967G>A (p.Arg656Gln)	C6 (R656Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175125	NM_000065.5(C6):c.1498G>T (p.Ala500Ser)	C6 (A500S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1166688	NM_000065.5(C6):c.10C>T (p.Arg4Cys)	C6 (R4C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

ClinVar