"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SKI"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 432531	NM_003036.4(SKI):c.142A>C (p.Lys48Gln)	SKI (K48Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 139111	NM_003036.4(SKI):c.456C>T (p.Arg152=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 373594	NM_003036.4(SKI):c.464C>G (p.Ala155Gly)	SKI (A155G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 213689	NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)	SKI (R357Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 449711	NM_003036.4(SKI):c.1109T>C (p.Val370Ala)	SKI (V370A)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +1 more	GConflicting classifications of pathogenicity
Select item 263895	NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)	SKI (A437T)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GConflicting classifications of pathogenicity
Select item 139114	NM_003036.4(SKI):c.1311C>T (p.Ala437=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 139115	NM_003036.4(SKI):c.1446G>A (p.Ala482=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 213677	NM_003036.4(SKI):c.1593T>C (p.Pro531=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GBenign/Likely benign
Select item 213698	NM_003036.4(SKI):c.1877A>T (p.Lys626Met)	SKI (K626M)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1215755	NM_003036.4(SKI):c.2040C>G (p.Asp680Glu)	SKI (D680E)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GUncertain significance
Select item 213709	NM_003036.4(SKI):c.2056G>A (p.Ala686Thr)	SKI (A686T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 213701	NM_003036.4(SKI):c.2183C>T (p.Pro728Leu)	SKI (P728L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity