ClinVar for MedGen (Select 1648323) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024353	NM_001366686.3(SIK3):c.950T>G (p.Met317Arg)	SIK3 (M158R +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Krakow type	GLikely pathogenic
Select item 1332967	NM_001366686.3(SIK3):c.1582-37A>G	SIK3	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Krakow type +1 more	GBenign
Select item 1332966	NM_001366686.3(SIK3):c.1953-11C>T	SIK3	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Krakow type +1 more	GBenign
Select item 1332965	NM_001366686.3(SIK3):c.2315+45C>A	SIK3	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Krakow type +1 more	GBenign
Select item 1332964	NM_001366686.3(SIK3):c.3551C>G (p.Pro1184Arg)	SIK3 (P1076R +3 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Krakow type +1 more	GBenign
Select item 768487	NM_001366686.3(SIK3):c.3292G>A (p.Ala1098Thr)	SIK3 (A1098T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 587366	NM_001366686.3(SIK3):c.559C>T (p.Arg187Cys)	SIK3 (R187C +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Krakow type	GPathogenic

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