C2676254[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 206655	NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys)	PRICKLE1 (E757K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 130026	NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser)	PRICKLE1 (P746S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 198918	NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe)	PRICKLE1 (S739F)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +2 more	GConflicting classifications of pathogenicity
Select item 206666	NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg)	LOC126861509, PRICKLE1 (W408R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 180205	NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met)	LOC126861509, PRICKLE1 (T275M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 130030	NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=)	PRICKLE1	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 1B +2 more	GBenign/Likely benign
Select item 197880	NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val)	PRICKLE1 (A145V)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 1B +2 more	GUncertain significance

ClinVar