"Genome-Nilou Lab"[submitter] AND "SIK1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586586	NM_173354.5(SIK1):c.1848C>T (p.Pro616=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +3 more	GBenign
Select item 586585	NM_173354.5(SIK1):c.1844C>T (p.Ala615Val)	SIK1 (A615V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +3 more	GBenign
Select item 1332955	NM_173354.5(SIK1):c.1246-36T>C	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30 +1 more	GBenign
Select item 1332956	NM_173354.5(SIK1):c.749-45C>G	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30 +2 more	GBenign
Select item 1332957	NM_173354.5(SIK1):c.749-49G>A	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30 +1 more	GBenign
Select item 1332958	NM_173354.5(SIK1):c.748+17C>T	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30 +1 more	GBenign
Select item 1332959	NM_173354.5(SIK1):c.625-23T>C	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30 +2 more	GBenign
Select item 1332960	NM_173354.5(SIK1):c.625-39A>G	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30 +2 more	GBenign
Select item 1332961	NM_173354.5(SIK1):c.337+35C>G	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30 +1 more	GBenign
Select item 1332962	NM_173354.5(SIK1):c.274-28G>A	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30 +1 more	GBenign
Select item 1332963	NM_173354.5(SIK1):c.156+15T>C	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30 +1 more	GBenign