"PreventionGenetics, part of Exact Sciences"[submitter] AND "SKI"[gene - ClinVar

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Items: 50

	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)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign
Select item 139113	NM_003036.4(SKI):c.185C>G (p.Ala62Gly)	SKI (A62G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 193249	NM_003036.4(SKI):c.216C>T (p.Pro72=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GConflicting classifications of pathogenicity
Select item 213681	NM_003036.4(SKI):c.294C>T (p.Thr98=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign
Select item 213682	NM_003036.4(SKI):c.360C>T (p.Arg120=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 700094	NM_003036.4(SKI):c.405G>T (p.Ser135=)	SKI	Single nucleotide variant (synonymous variant)	SKI-related disorder +3 more	GBenign/Likely benign
Select item 213683	NM_003036.4(SKI):c.417C>T (p.Ile139=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 701048	NM_003036.4(SKI):c.450C>T (p.Cys150=)	SKI	Single nucleotide variant (synonymous variant)	SKI-related disorder +2 more	GLikely benign
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 239478	NM_003036.4(SKI):c.471G>A (p.Gln157=)	SKI	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 258901	NM_003036.4(SKI):c.495C>T (p.Gly165=)	SKI	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 516445	NM_003036.4(SKI):c.516C>T (p.Pro172=)	SKI	Single nucleotide variant (synonymous variant)	SKI-related disorder +3 more	GBenign/Likely benign
Select item 193248	NM_003036.4(SKI):c.798C>T (p.Ala266=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GConflicting classifications of pathogenicity
Select item 213663	NM_003036.4(SKI):c.799C>T (p.Leu267=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 532226	NM_003036.4(SKI):c.930A>G (p.Lys310=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 264199	NM_003036.4(SKI):c.964C>T (p.Pro322Ser)	SKI (P322S)	Single nucleotide variant (missense variant)	SKI-related disorder +3 more	GUncertain significance
Select item 213666	NM_003036.4(SKI):c.1033G>A (p.Ala345Thr)	SKI (A345T)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 3053178	NM_003036.4(SKI):c.1131T>C (p.Ser377=)	SKI	Single nucleotide variant (synonymous variant)	SKI-related disorder	GLikely benign
Select item 213668	NM_003036.4(SKI):c.1163C>T (p.Ala388Val)	SKI (A388V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 213692	NM_003036.4(SKI):c.1196C>T (p.Ala399Val)	SKI (A399V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 258899	NM_003036.4(SKI):c.1211+17C>T	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome +1 more	GConflicting classifications of pathogenicity
Select item 258900	NM_003036.4(SKI):c.1211+19C>T	SKI	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 213671	NM_003036.4(SKI):c.1212-8C>T	SKI	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 392009	NM_003036.4(SKI):c.1254C>T (p.Asn418=)	SKI	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 387432	NM_003036.4(SKI):c.1269G>A (p.Pro423=)	SKI	Single nucleotide variant (synonymous variant)	SKI-related disorder +3 more	GLikely benign
Select item 511096	NM_003036.4(SKI):c.1272G>A (p.Pro424=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 139114	NM_003036.4(SKI):c.1311C>T (p.Ala437=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GBenign/Likely benign
Select item 213672	NM_003036.4(SKI):c.1338C>T (p.Leu446=)	SKI	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 520163	NM_003036.4(SKI):c.1426G>A (p.Glu476Lys)	SKI (E476K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
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 213695	NM_003036.4(SKI):c.1528G>A (p.Ala510Thr)	SKI (A510T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 180522	NM_003036.4(SKI):c.1568C>T (p.Ser523Leu)	SKI (S523L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GLikely benign
Select item 2636957	NM_003036.4(SKI):c.1577C>G (p.Pro526Arg)	SKI (P526R)	Single nucleotide variant (missense variant)	SKI-related disorder	GUncertain significance
Select item 213677	NM_003036.4(SKI):c.1593T>C (p.Pro531=)	SKI	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1596863	NM_003036.4(SKI):c.1599C>T (p.Asp533=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +1 more	GLikely benign
Select item 3059134	NM_003036.4(SKI):c.1665C>T (p.Thr555=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 696199	NM_003036.4(SKI):c.1767+9G>C	SKI	Single nucleotide variant (intron variant)	SKI-related disorder +2 more	GBenign/Likely benign
Select item 3033674	NM_003036.4(SKI):c.1784G>A (p.Arg595His)	SKI (R595H)	Single nucleotide variant (missense variant)	SKI-related disorder	GUncertain significance
Select item 139116	NM_003036.4(SKI):c.1834C>T (p.Leu612=)	SKI	Single nucleotide variant (synonymous variant)	not specified +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 699589	NM_003036.4(SKI):c.1923G>A (p.Leu641=)	SKI	Single nucleotide variant (synonymous variant)	SKI-related disorder +3 more	GLikely benign
Select item 463400	NM_003036.4(SKI):c.1935G>T (p.Arg645=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 139117	NM_003036.4(SKI):c.1974C>T (p.Arg658=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 516383	NM_003036.4(SKI):c.1998+9G>A	SKI	Single nucleotide variant (intron variant)	SKI-related disorder +2 more	GLikely benign
Select item 3061185	NM_003036.4(SKI):c.2002G>A (p.Glu668Lys)	SKI (E668K)	Single nucleotide variant (missense variant)	SKI-related disorder	GUncertain significance
Select item 3031309	NM_003036.4(SKI):c.2115G>T (p.Leu705=)	SKI	Single nucleotide variant (synonymous variant)	SKI-related disorder	GLikely benign
Select item 761161	NM_003036.4(SKI):c.2142C>T (p.Arg714=)	SKI	Single nucleotide variant (synonymous variant)	SKI-related disorder +1 more	GLikely benign
Select item 2635934	NM_003036.4(SKI):c.2143C>T (p.Pro715Ser)	SKI (P715S)	Single nucleotide variant (missense variant)	SKI-related disorder	GUncertain significance
Select item 3032779	NM_003036.4(SKI):c.2156_2173dup (p.Ala724_Glu725insGlySerGluGlyAlaAla)	SKI	Duplication (inframe insertion)	SKI-related disorder	GUncertain significance
Select item 2634279	NM_003036.4(SKI):c.2182C>G (p.Pro728Ala)	SKI (P728A)	Single nucleotide variant (missense variant)	SKI-related disorder +1 more	GUncertain significance

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Items: 50