"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CD46"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1163185	NM_172351.3(CD46):c.97G>C (p.Asp33His)	CD46, LOC129932405 (D33H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1163186	NM_172351.3(CD46):c.153del (p.Lys51fs)	CD46 (K51fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1163187	NM_172351.3(CD46):c.169G>A (p.Gly57Ser)	CD46 (G57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17048	NM_172351.3(CD46):c.175C>T (p.Arg59Ter)	CD46 (R59*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1163188	NM_172351.3(CD46):c.286+1G>C	CD46	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 505831	NM_172351.3(CD46):c.286+2T>G	CD46	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1163189	NM_172351.3(CD46):c.287-2A>G	CD46	Single nucleotide variant (splice acceptor variant)	Thrombotic microangiopathy +2 more	GPathogenic/Likely pathogenic
Select item 875711	NM_172351.3(CD46):c.293C>T (p.Thr98Ile)	CD46 (T98I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1162901	NM_172351.3(CD46):c.412del (p.Ile138fs)	CD46 (I138fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1162902	NM_172351.3(CD46):c.464dup (p.Ile156fs)	CD46 (I156fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1162903	NM_172351.3(CD46):c.469T>C (p.Cys157Arg)	CD46 (C157R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1162904	NM_172351.3(CD46):c.535G>C (p.Glu179Gln)	CD46 (E179Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 599060	NM_172351.3(CD46):c.604C>T (p.Leu202Phe)	CD46 (L202F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682718	NM_172351.3(CD46):c.683G>A (p.Cys228Tyr)	CD46 (C228Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162905	NM_172351.3(CD46):c.686G>A (p.Arg229Gln)	CD46 (R229Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1162906	NM_172351.3(CD46):c.692C>G (p.Pro231Arg)	CD46 (P231R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343345	NM_172351.3(CD46):c.820_821del (p.Ser274fs)	CD46 (S274fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 294972	NM_172351.3(CD46):c.887C>T (p.Ala296Val)	CD46 (A311V +1 more)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +1 more	GUncertain significance
Select item 444193	NM_172351.3(CD46):c.1103C>T (p.Thr368Ile)	CD46 (T383I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity