"PreventionGenetics, part of Exact Sciences"[submitter] AND "CD55"[gen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631765	NM_000574.5(CD55):c.101-2A>C	CD55	Single nucleotide variant (splice acceptor variant)	CD55-related disorder	GLikely pathogenic
Select item 787220	NM_000574.5(CD55):c.155G>T (p.Arg52Leu)	CD55 (R52L)	Single nucleotide variant (missense variant +1 more)	Protein-losing enteropathy +3 more	GBenign/Likely benign
Select item 1520269	NM_000574.5(CD55):c.286+1G>A	CD55	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1164473	NM_000574.5(CD55):c.294C>T (p.Cys98=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2630974	NM_000574.5(CD55):c.517C>T (p.Gln173Ter)	CD55 (Q173*)	Single nucleotide variant (nonsense +1 more)	CD55-related disorder	GLikely pathogenic
Select item 1562561	NM_000574.5(CD55):c.648G>A (p.Pro216=)	CD55	Single nucleotide variant (synonymous variant +1 more)	CD55-related disorder +1 more	GLikely benign
Select item 1142291	NM_000574.5(CD55):c.651G>A (p.Leu217=)	CD55	Single nucleotide variant (synonymous variant +1 more)	CD55-related disorder +1 more	GLikely benign
Select item 1598647	NM_000574.5(CD55):c.668T>A (p.Ile223Asn)	CD55 (I223N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1660316	NM_000574.5(CD55):c.864A>G (p.Leu288=)	CD55	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign