"CD93-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2634918	NM_012072.4(CD93):c.1900C>T (p.Arg634Ter)	CD93 (R634*)	Single nucleotide variant (nonsense)	CD93-related condition	GUncertain significance
Select item 3051666	NM_012072.4(CD93):c.1627G>A (p.Val543Ile)	CD93 (V543I)	Single nucleotide variant (missense variant)	CD93-related condition	GLikely benign
Select item 3060757	NM_012072.4(CD93):c.1487G>A (p.Arg496His)	CD93 (R496H)	Single nucleotide variant (missense variant)	CD93-related condition	GLikely benign
Select item 3044385	NM_012072.4(CD93):c.1449GGA[1] (p.Glu484del)	CD93 (E484del)	Microsatellite (inframe deletion)	CD93-related condition	GLikely benign
Select item 3033416	NM_012072.4(CD93):c.1439C>G (p.Pro480Arg)	CD93 (P480R)	Single nucleotide variant (missense variant)	CD93-related condition	GUncertain significance
Select item 2213357	NM_012072.4(CD93):c.1301C>T (p.Pro434Leu)	CD93 (P434L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3037430	NM_012072.4(CD93):c.354C>G (p.Gly118=)	CD93	Single nucleotide variant (synonymous variant)	CD93-related condition	GLikely benign
Select item 3034758	NM_012072.4(CD93):c.350T>G (p.Val117Gly)	CD93 (V117G)	Single nucleotide variant (missense variant)	CD93-related condition	GBenign
Select item 3029079	NM_012072.4(CD93):c.123G>A (p.Ser41=)	CD93	Single nucleotide variant (synonymous variant)	CD93-related condition	GLikely benign

ClinVar