C4707243[trait identifier] AND "GeneDx"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 520156	NM_003036.4(SKI):c.8C>T (p.Ala3Val)	SKI (A3V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1723107	NM_003036.4(SKI):c.46G>A (p.Gly16Arg)	SKI (G16R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 511227	NM_003036.4(SKI):c.75C>T (p.His25=)	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 386838	NM_003036.4(SKI):c.105G>A (p.Pro35=)	SKI	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 213665	NM_003036.4(SKI):c.138C>T (p.Ala46=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
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 385331	NM_003036.4(SKI):c.147G>A (p.Lys49=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1306121	NM_003036.4(SKI):c.170C>T (p.Ala57Val)	SKI (A57V)	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 1314447	NM_003036.4(SKI):c.188C>T (p.Pro63Leu)	SKI (P63L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1417909	NM_003036.4(SKI):c.190G>A (p.Val64Met)	SKI (V64M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
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 520167	NM_003036.4(SKI):c.227T>C (p.Leu76Pro)	SKI (L76P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 227947	NM_003036.4(SKI):c.312A>T (p.Val104=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GLikely benign
Select item 1254585	NM_003036.4(SKI):c.324G>A (p.Glu108=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
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 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 516445	NM_003036.4(SKI):c.516C>T (p.Pro172=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 510551	NM_003036.4(SKI):c.567G>C (p.Leu189=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +2 more	GLikely benign
Select item 520171	NM_003036.4(SKI):c.593C>T (p.Pro198Leu)	SKI (P198L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1209191	NM_003036.4(SKI):c.605A>C (p.Glu202Ala)	SKI (E202A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1035650	NM_003036.4(SKI):c.611C>T (p.Ala204Val)	SKI (A204V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 701605	NM_003036.4(SKI):c.696G>A (p.Leu232=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +2 more	GLikely benign
Select item 388701	NM_003036.4(SKI):c.702C>G (p.Pro234=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
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 264492	NM_003036.4(SKI):c.844C>A (p.Arg282=)	SKI	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 858270	NM_003036.4(SKI):c.878G>A (p.Gly293Asp)	SKI (G293D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
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 648597	NM_003036.4(SKI):c.898C>T (p.Leu300Phe)	SKI (L300F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 389154	NM_003036.4(SKI):c.906C>T (p.Arg302=)	SKI	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 213686	NM_003036.4(SKI):c.919G>A (p.Val307Met)	SKI (V307M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 213687	NM_003036.4(SKI):c.938A>G (p.Tyr313Cys)	SKI (Y313C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
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 264199	NM_003036.4(SKI):c.964C>T (p.Pro322Ser)	SKI (P322S)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GUncertain significance
Select item 1768336	NM_003036.4(SKI):c.982C>G (p.Pro328Ala)	SKI (P328A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1768359	NM_003036.4(SKI):c.983C>T (p.Pro328Leu)	SKI (P328L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GUncertain significance
Select item 1035726	NM_003036.4(SKI):c.985C>T (p.Pro329Ser)	SKI (P329S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
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 213688	NM_003036.4(SKI):c.1000C>T (p.Pro334Ser)	SKI (P334S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 698565	NM_003036.4(SKI):c.1025A>T (p.Gln342Leu)	SKI (Q342L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GLikely benign
Select item 213666	NM_003036.4(SKI):c.1033G>A (p.Ala345Thr)	SKI (A345T)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 656172	NM_003036.4(SKI):c.1034C>T (p.Ala345Val)	SKI (A345V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 384269	NM_003036.4(SKI):c.1041C>T (p.Ser347=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 463392	NM_003036.4(SKI):c.1069C>T (p.Arg357Trp)	SKI (R357W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +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 1294211	NM_003036.4(SKI):c.1096-5G>A	SKI	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 409970	NM_003036.4(SKI):c.1117C>T (p.Arg373Cys)	SKI (R373C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 213667	NM_003036.4(SKI):c.1162G>A (p.Ala388Thr)	SKI (A388T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 415896	NM_003036.4(SKI):c.1164G>A (p.Ala388=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 213692	NM_003036.4(SKI):c.1196C>T (p.Ala399Val)	SKI (A399V)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +3 more	GConflicting classifications of pathogenicity
Select item 386213	NM_003036.4(SKI):c.1197C>A (p.Ala399=)	SKI	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely 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 213693	NM_003036.4(SKI):c.1247C>T (p.Ala416Val)	SKI (A416V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 392009	NM_003036.4(SKI):c.1254C>T (p.Asn418=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 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 263904	NM_003036.4(SKI):c.1263C>T (p.Leu421=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +2 more	GLikely benign
Select item 213707	NM_003036.4(SKI):c.1264G>A (p.Ala422Thr)	SKI (A422T)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GUncertain significance
Select item 963815	NM_003036.4(SKI):c.1268C>T (p.Pro423Leu)	SKI (P423L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 387432	NM_003036.4(SKI):c.1269G>A (p.Pro423=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +2 more	GLikely benign
Select item 423663	NM_003036.4(SKI):c.1271C>T (p.Pro424Leu)	SKI (P424L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 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 449989	NM_003036.4(SKI):c.1294A>G (p.Ser432Gly)	SKI (S432G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 213694	NM_003036.4(SKI):c.1301C>T (p.Pro434Leu)	SKI (P434L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GUncertain significance
Select item 696198	NM_003036.4(SKI):c.1308C>T (p.Ala436=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +2 more	GBenign/Likely benign
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 227946	NM_003036.4(SKI):c.1311C>G (p.Ala437=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 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 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 213672	NM_003036.4(SKI):c.1338C>T (p.Leu446=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GBenign/Likely benign
Select item 1309209	NM_003036.4(SKI):c.1339G>A (p.Ala447Thr)	SKI (A447T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 409974	NM_003036.4(SKI):c.1384C>G (p.Pro462Ala)	SKI (P462A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 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 520163	NM_003036.4(SKI):c.1426G>A (p.Glu476Lys)	SKI (E476K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2586930	NM_003036.4(SKI):c.1433A>G (p.Lys478Arg)	SKI (K478R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 451641	NM_003036.4(SKI):c.1445C>T (p.Ala482Val)	SKI (A482V)	Single nucleotide variant (missense variant)	not provided +1 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 373745	NM_003036.4(SKI):c.1480T>A (p.Ser494Thr)	SKI (S494T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1098956	NM_003036.4(SKI):c.1485C>T (p.Ser495=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1773832	NM_003036.4(SKI):c.1493C>T (p.Ser498Leu)	SKI (S498L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 517682	NM_003036.4(SKI):c.1506G>A (p.Pro502=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +2 more	GLikely benign
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 213695	NM_003036.4(SKI):c.1528G>A (p.Ala510Thr)	SKI (A510T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 213675	NM_003036.4(SKI):c.1556G>A (p.Arg519His)	SKI (R519H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 213676	NM_003036.4(SKI):c.1573G>A (p.Val525Ile)	SKI (V525I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1208201	NM_003036.4(SKI):c.1587G>A (p.Ala529=)	SKI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely 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 213697	NM_003036.4(SKI):c.1619C>T (p.Ala540Val)	SKI (A540V)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GConflicting classifications of pathogenicity
Select item 213678	NM_003036.4(SKI):c.1632C>T (p.His544=)	SKI	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1313938	NM_003036.4(SKI):c.1654G>A (p.Gly552Ser)	SKI (G552S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1064280	NM_003036.4(SKI):c.1708C>T (p.Arg570Cys)	SKI (R570C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1220046	NM_003036.4(SKI):c.1711G>A (p.Val571Met)	SKI (V571M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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