"PreventionGenetics, part of Exact Sciences"[submitter] AND "C8A"[gene - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1169492	NM_000562.3(C8A):c.100C>T (p.Pro34Ser)	C8A (P34S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2977440	NM_000562.3(C8A):c.172-6G>C	C8A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1666981	NM_000562.3(C8A):c.176G>A (p.Arg59Gln)	C8A (R59Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1408285	NM_000562.3(C8A):c.353A>G (p.Asp118Gly)	C8A (D118G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1657820	NM_000562.3(C8A):c.381G>A (p.Glu127=)	C8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 444168	NM_000562.3(C8A):c.385G>A (p.Asp129Asn)	C8A (D129N)	Single nucleotide variant (missense variant)	C8A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2630502	NM_000562.3(C8A):c.482A>G (p.Gln161Arg)	C8A (Q161R)	Single nucleotide variant (missense variant)	C8A-related disorder	GUncertain significance
Select item 791416	NM_000562.3(C8A):c.606T>C (p.Asp202=)	C8A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1632796	NM_000562.3(C8A):c.856-13C>T	C8A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3039577	NM_000562.3(C8A):c.1278C>T (p.Gly426=)	C8A	Single nucleotide variant (synonymous variant)	C8A-related disorder	GLikely benign
Select item 789429	NM_000562.3(C8A):c.1331G>A (p.Arg444His)	C8A (R444H)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 777910	NM_000562.3(C8A):c.1372G>A (p.Asp458Asn)	C8A (D458N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 742991	NM_000562.3(C8A):c.1661G>A (p.Gly554Asp)	C8A (G554D)	Single nucleotide variant (missense variant)	C8A-related disorder +1 more	GLikely benign