"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CFHR3"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682693	NM_021023.6(CFHR3):c.115C>T (p.Arg39Cys)	CFHR3 (R39C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693720	NM_021023.6(CFHR3):c.116G>A (p.Arg39His)	CFHR3 (R39H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682694	NM_021023.6(CFHR3):c.157T>C (p.Tyr53His)	CFHR3 (Y53H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163766	NM_021023.6(CFHR3):c.354C>A (p.Tyr118Ter)	CFHR3 (Y118*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3380311	NM_021023.6(CFHR3):c.371A>G (p.Gln124Arg)	CFHR3 (Q124R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380317	NM_021023.6(CFHR3):c.446C>T (p.Ser149Leu)	CFHR3 (S149L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380318	NM_021023.6(CFHR3):c.460G>C (p.Glu154Gln)	CFHR3 (E154Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380320	NM_021023.6(CFHR3):c.530C>A (p.Pro177Gln)	CFHR3 (P177Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380323	NM_021023.6(CFHR3):c.613+1G>A	CFHR3	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 771691	NM_021023.6(CFHR3):c.613+2T>C	CFHR3	Single nucleotide variant (splice donor variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1163767	NM_021023.6(CFHR3):c.614-4del	CFHR3	Deletion (intron variant)	not provided	GUncertain significance
Select item 3380326	NM_021023.6(CFHR3):c.649A>G (p.Ser217Gly)	CFHR3 (S156G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682695	NM_021023.6(CFHR3):c.727T>G (p.Tyr243Asp)	CFHR3 (Y182D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445963	NM_021023.6(CFHR3):c.796+1G>A	CFHR3	Single nucleotide variant (splice donor variant)	not provided +1 more	GUncertain significance
Select item 2682696	NM_021023.6(CFHR3):c.832A>G (p.Asn278Asp)	CFHR3 (N217D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163768	NM_021023.6(CFHR3):c.839_840del (p.Ile280fs)	CFHR3 (I219fs +1 more)	Deletion (frameshift variant)	not specified +3 more	GUncertain significance
Select item 2397714	NM_021023.6(CFHR3):c.959G>A (p.Arg320Gln)	CFHR3 (R320Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance