"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 618874	NM_003036.4(SKI):c.42C>T (p.His14=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +2 more	GLikely benign
Select item 139112	NM_003036.4(SKI):c.99C>G (p.Gly33=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 978540	NM_003036.4(SKI):c.163G>C (p.Ala55Pro)	SKI (A55P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 139113	NM_003036.4(SKI):c.185C>G (p.Ala62Gly)	SKI (A62G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 193249	NM_003036.4(SKI):c.216C>T (p.Pro72=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 213681	NM_003036.4(SKI):c.294C>T (p.Thr98=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GBenign
Select item 213682	NM_003036.4(SKI):c.360C>T (p.Arg120=)	SKI	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 213683	NM_003036.4(SKI):c.417C>T (p.Ile139=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GBenign/Likely benign
Select item 440270	NM_003036.4(SKI):c.436_437insCTC (p.Glu145_Leu146insPro)	SKI	Insertion (inframe_insertion)	not specified	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 264172	NM_003036.4(SKI):c.625C>A (p.Leu209Met)	SKI (L209M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 213685	NM_003036.4(SKI):c.640A>G (p.Ser214Gly)	SKI (S214G)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GConflicting classifications of pathogenicity
Select item 381375	NM_003036.4(SKI):c.726C>T (p.Ala242=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely 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)	Shprintzen-Goldberg syndrome +2 more	GBenign/Likely benign
Select item 380753	NM_003036.4(SKI):c.897C>T (p.Arg299=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 213664	NM_003036.4(SKI):c.948G>A (p.Lys316=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +2 more	GBenign/Likely benign
Select item 2056301	NM_003036.4(SKI):c.969+10C>T	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome +1 more	GConflicting classifications of pathogenicity
Select item 707316	NM_003036.4(SKI):c.970-5C>T	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome	GLikely benign
Select item 513013	NM_003036.4(SKI):c.994A>G (p.Ile332Val)	SKI (I332V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
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 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 520161	NM_003036.4(SKI):c.1152C>T (p.Pro384=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 213668	NM_003036.4(SKI):c.1163C>T (p.Ala388Val)	SKI (A388V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 213670	NM_003036.4(SKI):c.1211+11G>A	SKI	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 258900	NM_003036.4(SKI):c.1211+19C>T	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome +1 more	GBenign/Likely benign
Select item 220793	NM_003036.4(SKI):c.1258G>A (p.Ala420Thr)	SKI (A420T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 511096	NM_003036.4(SKI):c.1272G>A (p.Pro424=)	SKI	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 811441	NM_003036.4(SKI):c.1317C>T (p.Val439=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +1 more	GLikely benign
Select item 213673	NM_003036.4(SKI):c.1410C>T (p.Pro470=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +2 more	GBenign
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 2921210	NM_003036.4(SKI):c.1474+8_1474+9del	SKI	Microsatellite (intron variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 213674	NM_003036.4(SKI):c.1527C>T (p.Ser509=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +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 415897	NM_003036.4(SKI):c.1734C>T (p.Ser578=)	SKI	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 139116	NM_003036.4(SKI):c.1834C>T (p.Leu612=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 415893	NM_003036.4(SKI):c.1887G>A (p.Glu629=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 699589	NM_003036.4(SKI):c.1923G>A (p.Leu641=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +2 more	GLikely benign
Select item 463401	NM_003036.4(SKI):c.1942C>G (p.Arg648Gly)	SKI (R648G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
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 415892	NM_003036.4(SKI):c.2013G>A (p.Gln671=)	SKI	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 440269	NM_003036.4(SKI):c.2171C>T (p.Ala724Val)	SKI (A724V)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +1 more	GUncertain significance
Select item 386048	NM_003036.4(SKI):c.2184G>C (p.Pro728=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign

ClinVar

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Items: 44