C2931010[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333	NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	CEP290 (G1890*)	Single nucleotide variant (nonsense)	Meckel syndrome, type 4 +13 more	GPathogenic/Likely pathogenic
Select item 318467	NM_153603.4(COG7):c.1852G>A (p.Ala618Thr)	COG7 (A618T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1020522	NM_153603.4(COG7):c.1499A>G (p.Tyr500Cys)	COG7 (Y500C)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 1515260	NM_153603.4(COG7):c.1445G>A (p.Cys482Tyr)	COG7 (C482Y)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 573240	NM_153603.4(COG7):c.1090G>A (p.Asp364Asn)	COG7 (D364N)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 506826	NM_153603.4(COG7):c.811-14C>G	COG7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 681936	NM_153603.4(COG7):c.567T>C (p.Ser189=)	COG7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 380442	NM_153603.4(COG7):c.366C>T (p.Ala122=)	COG7	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation +1 more	GBenign/Likely benign

ClinVar