Related gene-specific medical variations for Gene (Select 6497) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247721	NC_000001.10:g.(?_2160206)_(2161194_?)dup	SKI	Duplication	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2689993	NM_003036.4(SKI):c.8C>A (p.Ala3Glu)	SKI (A3E)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2689992	NM_003036.4(SKI):c.1784G>T (p.Arg595Leu)	SKI (R595L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2435961	NM_003036.4(SKI):c.164C>T (p.Ala55Val)	SKI (A55V)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 2435960	NM_003036.4(SKI):c.139T>G (p.Tyr47Asp)	SKI (Y47D)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 1701647	NM_003036.4(SKI):c.2057_2071dup (p.Arg690_Glu691insAlaAspLeuLeuArg)	SKI	Duplication (inframe_insertion)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 1330633	NM_003036.4(SKI):c.1096A>C (p.Ser366Arg)	SKI (S366R)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 1319166	NM_003036.4(SKI):c.953dup (p.Arg319fs)	SKI (R319fs)	Duplication (frameshift variant)	not provided	GPathogenic

ClinVar