C4225360[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 476104	NM_173354.5(SIK1):c.2243G>A (p.Arg748His)	SIK1 (R748H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GConflicting classifications of pathogenicity
Select item 376881	NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu)	SIK1 (P696L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 542710	NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln)	SIK1 (R645Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GConflicting classifications of pathogenicity
Select item 582156	NM_173354.5(SIK1):c.1843_1844insT (p.Ala615fs)	SIK1 (A615fs)	Insertion (frameshift variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 574251	NM_173354.5(SIK1):c.1457C>T (p.Ala486Val)	SIK1 (A486V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GConflicting classifications of pathogenicity
Select item 377139	NM_173354.5(SIK1):c.1215G>A (p.Met405Ile)	SIK1 (M405I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 542713	NM_173354.5(SIK1):c.1119+7G>A	SIK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 784907	NM_173354.5(SIK1):c.855G>A (p.Pro285=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +1 more	GBenign/Likely benign
Select item 542709	NM_173354.5(SIK1):c.365G>A (p.Ser122Asn)	SIK1 (S122N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 752426	NM_173354.5(SIK1):c.207G>A (p.Glu69=)	SIK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign