C4693694[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 412602	NM_006922.4(SCN3A):c.5232A>G (p.Pro1744=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 586503	NM_006922.4(SCN3A):c.5200G>C (p.Gly1734Arg)	SCN3A (G1734R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1577200	NM_006922.4(SCN3A):c.4432-14T>C	SCN3A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 652759	NM_006922.4(SCN3A):c.4186G>A (p.Val1396Met)	SCN3A (V1347M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 194858	NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val)	SCN3A (I1036V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62 +2 more	GUncertain significance
Select item 194857	NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile)	SCN3A (V1035I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 696399	NM_006922.4(SCN3A):c.2392-9A>G	SCN3A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 62 +2 more	GBenign/Likely benign
Select item 240708	NM_006922.4(SCN3A):c.2021G>A (p.Gly674Asp)	SCN3A (G674D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 194238	NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu)	SCN3A (G668E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 848668	NM_006922.4(SCN3A):c.603-3_603-2del	SCN3A	Deletion (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy, 62 +2 more	GUncertain significance
Select item 196445	NM_006922.4(SCN3A):c.171T>C (p.Ala57=)	SCN3A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 62 +4 more	GBenign/Likely benign
Select item 641373	NM_006922.4(SCN3A):c.137A>C (p.Glu46Ala)	SCN3A (E46A)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4 +2 more	GUncertain significance