C1321551[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2435960	NM_003036.4(SKI):c.139T>G (p.Tyr47Asp)	SKI (Y47D)	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 409972	NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)	SKI (R402Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 647062	NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)	SKI (R441W)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GConflicting classifications of pathogenicity
Select item 575219	NM_003036.4(SKI):c.1400C>T (p.Thr467Met)	SKI (T467M)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GConflicting classifications of pathogenicity
Select item 2435959	NM_003036.4(SKI):c.1505C>G (p.Pro502Arg)	SKI (P502R)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 213696	NM_003036.4(SKI):c.1555C>T (p.Arg519Cys)	SKI (R519C)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +1 more	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