"GeneDx"[submitter] AND "SIK1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 1353547	NM_173354.5(SIK1):c.2243G>T (p.Arg748Leu)	SIK1 (R748L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 450218	NM_173354.5(SIK1):c.2191C>A (p.His731Asn)	SIK1 (H731N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310718	NM_173354.5(SIK1):c.2065T>A (p.Cys689Ser)	SIK1 (C689S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1309495	NM_173354.5(SIK1):c.2042C>T (p.Pro681Leu)	SIK1 (P681L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574873	NM_173354.5(SIK1):c.1936G>A (p.Glu646Lys)	SIK1 (E646K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2662519	NM_173354.5(SIK1):c.1670G>T (p.Gly557Val)	SIK1 (G557V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662518	NM_173354.5(SIK1):c.1648C>T (p.Pro550Ser)	SIK1 (P550S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311702	NM_173354.5(SIK1):c.1532_1534del (p.Phe511del)	SIK1 (F511del)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 955324	NM_173354.5(SIK1):c.1505G>A (p.Gly502Glu)	SIK1 (G502E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +2 more	GUncertain significance
Select item 2412863	NM_173354.5(SIK1):c.1291C>T (p.Pro431Ser)	SIK1 (P431S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710878	NM_173354.5(SIK1):c.1233_1244del (p.Ser411_Trp415delinsArg)	SIK1	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1804349	NM_173354.5(SIK1):c.934A>C (p.Met312Leu)	SIK1 (M312L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413021	NM_173354.5(SIK1):c.788C>T (p.Pro263Leu)	SIK1 (P263L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311451	NM_173354.5(SIK1):c.698G>A (p.Arg233Lys)	SIK1 (R233K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1302402	NM_173354.5(SIK1):c.536C>G (p.Pro179Arg)	SIK1 (P179R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3252293	NM_173354.5(SIK1):c.512G>A (p.Gly171Glu)	SIK1 (G171E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310679	NM_173354.5(SIK1):c.500-3C>G	SIK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2443637	NM_173354.5(SIK1):c.405_421dup (p.His141fs)	SIK1 (H141fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1326048	NM_173354.5(SIK1):c.189A>C (p.Leu63Phe)	SIK1 (L63F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 253975	GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1	RRP1B, LRRC3 +22 more	Copy number loss	See cases	GUncertain significance
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic

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Items: 25