"Blueprint Genetics"[submitter] AND "SKI"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222819	NM_003036.4(SKI):c.352G>A (p.Glu118Lys)	SKI (E118K)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GConflicting classifications of pathogenicity
Select item 222820	NM_003036.4(SKI):c.1081G>A (p.Gly361Ser)	SKI (G361S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 222821	NM_003036.4(SKI):c.1243G>A (p.Val415Met)	SKI (V415M)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GUncertain significance
Select item 636979	NM_003036.4(SKI):c.1336C>T (p.Leu446Phe)	SKI (L446F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 180522	NM_003036.4(SKI):c.1568C>T (p.Ser523Leu)	SKI (S523L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +1 more	GLikely benign
Select item 222822	NM_003036.4(SKI):c.1_3del	SKI	Deletion (3 prime UTR variant)	Disproportionate tall stature	GUncertain significance
Select item 974581	Single allele	ACTRT2, ARHGEF16 +32 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic

ClinVar