"PreventionGenetics, part of Exact Sciences"[submitter] AND "C1R"[gene - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034287	NM_001733.7(C1R):c.2013G>A (p.Thr671=)	C1R	Single nucleotide variant (synonymous variant)	C1R-related condition	GLikely benign
Select item 3057434	NM_001733.7(C1R):c.916+10C>T	C1R	Single nucleotide variant (intron variant)	C1R-related condition	GLikely benign
Select item 2634609	NM_001733.7(C1R):c.880G>A (p.Asp294Asn)	C1R (D294N +1 more)	Single nucleotide variant (missense variant)	C1R-related condition	GUncertain significance
Select item 3036693	NM_001733.7(C1R):c.876G>C (p.Ser292=)	C1R	Single nucleotide variant (synonymous variant)	C1R-related condition	GLikely benign
Select item 1285037	NM_001733.7(C1R):c.647C>G (p.Pro216Arg)	C1R (P216R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3039910	NM_001733.7(C1R):c.487C>T (p.His163Tyr)	C1R (H163Y +1 more)	Single nucleotide variant (missense variant)	C1R-related condition	GLikely benign
Select item 1694658	NM_001733.7(C1R):c.366C>T (p.Asn122=)	C1R	Single nucleotide variant (synonymous variant)	C1R-related condition +1 more	GLikely benign
Select item 2634200	NM_001733.7(C1R):c.334A>G (p.Met112Val)	C1R (M112V +1 more)	Single nucleotide variant (missense variant)	C1R-related condition	GUncertain significance
Select item 3029382	NM_001733.7(C1R):c.232-9T>C	C1R	Single nucleotide variant (intron variant)	C1R-related condition	GLikely benign
Select item 1175815	NM_001733.7(C1R):c.27G>A (p.Pro9=)	C1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3054199	NM_001733.7(C1R):c.24G>T (p.Val8=)	C1R	Single nucleotide variant (synonymous variant)	C1R-related condition	GLikely benign
Select item 3049978	NM_001733.7(C1R):c.3-10G>A	C1R	Single nucleotide variant (intron variant)	C1R-related condition	GLikely benign
Select item 3042989	NM_001733.7(C1R):c.3-93G>A	C1R (W15*)	Single nucleotide variant (nonsense +1 more)	C1R-related condition	GBenign