C5574945[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1008876	NM_001161352.2(KCNMA1):c.2089C>T (p.Arg697Trp)	KCNMA1 (R517W +3 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +3 more	GUncertain significance
Select item 300962	NM_001161352.2(KCNMA1):c.1749+11G>A	KCNMA1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 16 +4 more	GBenign/Likely benign
Select item 1211802	NM_001161352.2(KCNMA1):c.1441-11C>T	KCNMA1	Single nucleotide variant (intron variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +4 more	GLikely benign
Select item 501214	NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser)	KCNMA1 (A154S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 300971	NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala)	KCNMA1 (V61A)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome +5 more	GUncertain significance
Select item 581229	NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup)	KCNMA1	Microsatellite (inframe_insertion)	Generalized epilepsy-paroxysmal dyskinesia syndrome +4 more	GUncertain significance
Select item 464297	NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly)	KCNMA1	Indel (inframe_indel)	Generalized epilepsy-paroxysmal dyskinesia syndrome +5 more	GUncertain significance

ClinVar