"PreventionGenetics, part of Exact Sciences"[submitter] AND "C8B"[gene - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2054194	NM_000066.4(C8B):c.1770C>T (p.Cys590=)	C8B	Single nucleotide variant (synonymous variant)	C8B-related condition +1 more	GLikely benign
Select item 1452716	NM_000066.4(C8B):c.1524C>A (p.Cys508Ter)	C8B (C446* +2 more)	Single nucleotide variant (nonsense)	C8B-related condition +1 more	GPathogenic/Likely pathogenic
Select item 793337	NM_000066.4(C8B):c.1437T>A (p.Phe479Leu)	C8B (F427L +2 more)	Single nucleotide variant (missense variant)	C8B-related condition +1 more	GLikely benign
Select item 3058059	NM_000066.4(C8B):c.1383C>A (p.Ala461=)	C8B	Single nucleotide variant (synonymous variant)	C8B-related condition	GLikely benign
Select item 17038	NM_000066.4(C8B):c.1282C>T (p.Arg428Ter)	C8B (R428* +2 more)	Single nucleotide variant (nonsense)	C8B-related condition +3 more	GPathogenic
Select item 1405613	NM_000066.4(C8B):c.1234+6T>C	C8B	Single nucleotide variant (intron variant)	C8B-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1169841	NM_000066.4(C8B):c.966G>A (p.Lys322=)	C8B	Single nucleotide variant (synonymous variant)	C8B-related condition +1 more	GBenign
Select item 1601317	NM_000066.4(C8B):c.681C>T (p.Tyr227=)	C8B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1568421	NM_000066.4(C8B):c.624G>A (p.Thr208=)	C8B	Single nucleotide variant (synonymous variant)	C8B-related condition +1 more	GLikely benign
Select item 1660205	NM_000066.4(C8B):c.585T>C (p.Tyr195=)	C8B	Single nucleotide variant (synonymous variant)	C8B-related condition +1 more	GBenign/Likely benign
Select item 35594	NM_000066.4(C8B):c.271C>T (p.Gln91Ter)	C8B (Q91* +2 more)	Single nucleotide variant (nonsense)	C8B-related condition +3 more	GPathogenic/Likely pathogenic
Select item 1167854	NM_000066.4(C8B):c.258T>C (p.Tyr86=)	C8B	Single nucleotide variant (synonymous variant)	C8B-related condition +1 more	GBenign/Likely benign