"Eurofins Ntd Llc (ga)"[submitter] AND "SKI"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139112	NM_003036.4(SKI):c.99C>G (p.Gly33=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +2 more	GBenign
Select item 193249	NM_003036.4(SKI):c.216C>T (p.Pro72=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 193248	NM_003036.4(SKI):c.798C>T (p.Ala266=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 499239	NM_003036.4(SKI):c.915C>G (p.Asp305Glu)	SKI (D305E)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +1 more	GUncertain significance
Select item 289941	NM_003036.4(SKI):c.970-7A>G	SKI	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 392009	NM_003036.4(SKI):c.1254C>T (p.Asn418=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 139114	NM_003036.4(SKI):c.1311C>T (p.Ala437=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 497316	NM_003036.4(SKI):c.1440G>A (p.Ser480=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 139115	NM_003036.4(SKI):c.1446G>A (p.Ala482=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GBenign/Likely benign
Select item 139116	NM_003036.4(SKI):c.1834C>T (p.Leu612=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GBenign/Likely benign
Select item 198156	NM_003036.4(SKI):c.1851G>A (p.Glu617=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 198155	NM_003036.4(SKI):c.1890C>T (p.Ala630=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 139117	NM_003036.4(SKI):c.1974C>T (p.Arg658=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GBenign/Likely benign