C1832942[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 889297	NM_005359.6(SMAD4):c.-531G>C	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889298	NM_005359.6(SMAD4):c.-504A>G	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327102	NM_005359.6(SMAD4):c.-495C>G	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327103	NM_005359.6(SMAD4):c.-476C>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889978	NM_005359.6(SMAD4):c.-401C>T	SMAD4	Single nucleotide variant (5 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GBenign/Likely benign
Select item 889979	NM_005359.6(SMAD4):c.-400C>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327104	NM_005359.6(SMAD4):c.-333C>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327105	NM_005359.6(SMAD4):c.-313C>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327106	NM_005359.6(SMAD4):c.-233G>C	SMAD4	Single nucleotide variant (5 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 327107	NM_005359.6(SMAD4):c.-128+12A>G	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 891793	NM_005359.6(SMAD4):c.-127G>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889358	NM_005359.6(SMAD4):c.-69G>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GUncertain significance
Select item 327108	NM_005359.6(SMAD4):c.-3C>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 183733	NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)	SMAD4 (T7M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 183887	NM_005359.6(SMAD4):c.21G>A (p.Thr7=)	SMAD4	Single nucleotide variant (synonymous variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +8 more	GConflicting classifications of pathogenicity
Select item 327109	NM_005359.6(SMAD4):c.87T>G (p.Gly29=)	SMAD4	Single nucleotide variant (synonymous variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327110	NM_005359.6(SMAD4):c.249+10A>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 484792	NM_005359.6(SMAD4):c.298A>C (p.Arg100=)	SMAD4	Single nucleotide variant (synonymous variant)	Myhre syndrome +5 more	GConflicting classifications of pathogenicity
Select item 240149	NM_005359.6(SMAD4):c.342T>C (p.Tyr114=)	SMAD4	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 24799	NM_005359.6(SMAD4):c.354G>A (p.Ala118=)	SMAD4	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +7 more	GBenign/Likely benign
Select item 127950	NM_005359.6(SMAD4):c.424+5G>A	SMAD4	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GConflicting classifications of pathogenicity
Select item 139218	NM_005359.6(SMAD4):c.455-6A>G	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign
Select item 327111	NM_005359.6(SMAD4):c.667+3G>A	SMAD4	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 182869	NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)	SMAD4 (A226V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 232751	NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr)	SMAD4 (P246T)	Single nucleotide variant (missense variant)	Myhre syndrome +7 more	GConflicting classifications of pathogenicity
Select item 484804	NM_005359.6(SMAD4):c.789C>T (p.Asn263=)	SMAD4	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 183751	NM_005359.6(SMAD4):c.852A>G (p.Gln284=)	SMAD4	Single nucleotide variant (synonymous variant)	Generalized juvenile polyposis/juvenile polyposis coli +7 more	GConflicting classifications of pathogenicity
Select item 378973	NM_005359.6(SMAD4):c.876G>A (p.Pro292=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 132693	NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)	SMAD4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 492458	NM_005359.6(SMAD4):c.1124C>T (p.Ala375Val)	SMAD4 (A375V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +6 more	GUncertain significance
Select item 139219	NM_005359.6(SMAD4):c.1140-10T>C	SMAD4	Single nucleotide variant (intron variant)	Myhre syndrome +8 more	GConflicting classifications of pathogenicity
Select item 132745	NM_005359.6(SMAD4):c.1392C>T (p.Ala464=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 889477	NM_005359.6(SMAD4):c.1447+15C>A	SMAD4	Single nucleotide variant (intron variant)	Myhre syndrome +3 more	GConflicting classifications of pathogenicity
Select item 379190	NM_005359.6(SMAD4):c.1492T>C (p.Leu498=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 30150	NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)	SMAD4 (I500V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +8 more	GPathogenic
Select item 460541	NM_005359.6(SMAD4):c.1545A>G (p.Arg515=)	SMAD4	Single nucleotide variant (synonymous variant)	Myhre syndrome +6 more	GConflicting classifications of pathogenicity
Select item 890155	NM_005359.6(SMAD4):c.1550G>A (p.Ser517Asn)	SMAD4 (S517N)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +5 more	GUncertain significance
Select item 41788	NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)	SMAD4 (I525V)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 413437	NM_005359.6(SMAD4):c.1632G>A (p.Pro544=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 240146	NM_005359.6(SMAD4):c.1644A>G (p.Pro548=)	SMAD4	Single nucleotide variant (synonymous variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 136074	NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)	SMAD4	Single nucleotide variant (synonymous variant)	SMAD4-related condition +8 more	GConflicting classifications of pathogenicity
Select item 139220	NM_005359.6(SMAD4):c.*11C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	not specified +6 more	GBenign/Likely benign
Select item 379499	NM_005359.6(SMAD4):c.*12G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 327112	NM_005359.6(SMAD4):c.*30A>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GConflicting classifications of pathogenicity
Select item 327113	NM_005359.6(SMAD4):c.*81T>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889543	NM_005359.6(SMAD4):c.*170A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327114	NM_005359.6(SMAD4):c.*202A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GUncertain significance
Select item 327115	NM_005359.6(SMAD4):c.*218A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327116	NM_005359.6(SMAD4):c.*241T>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890202	NM_005359.6(SMAD4):c.*245T>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890774	NM_005359.6(SMAD4):c.*259T>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 890775	NM_005359.6(SMAD4):c.*332A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327117	NM_005359.6(SMAD4):c.*334C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GBenign/Likely benign
Select item 892014	NM_005359.6(SMAD4):c.*363C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327118	NM_005359.6(SMAD4):c.*412A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GBenign
Select item 889605	NM_005359.6(SMAD4):c.*579G>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889606	NM_005359.6(SMAD4):c.*580A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889607	NM_005359.6(SMAD4):c.*605A>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327119	NM_005359.6(SMAD4):c.*685A>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GBenign
Select item 890254	NM_005359.6(SMAD4):c.*704G>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890821	NM_005359.6(SMAD4):c.*720G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890822	NM_005359.6(SMAD4):c.*745C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327120	NM_005359.6(SMAD4):c.*837A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327121	NM_005359.6(SMAD4):c.*850G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 892059	NM_005359.6(SMAD4):c.*936A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 888595	NM_005359.6(SMAD4):c.*969A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 888596	NM_005359.6(SMAD4):c.*1036C>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 327122	NM_005359.6(SMAD4):c.*1067G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 890298	NM_005359.6(SMAD4):c.*1141A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 327124	NM_005359.6(SMAD4):c.*1177G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 327125	NM_005359.6(SMAD4):c.*1179T>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more	GBenign
Select item 327126	NM_005359.6(SMAD4):c.*1187A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327127	NM_005359.6(SMAD4):c.*1277G>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 890862	NM_005359.6(SMAD4):c.*1315G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 892096	NM_005359.6(SMAD4):c.*1386G>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 327128	NM_005359.6(SMAD4):c.*1457C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 888649	NM_005359.6(SMAD4):c.*1499T>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 888650	NM_005359.6(SMAD4):c.*1502T>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 888651	NM_005359.6(SMAD4):c.*1513A>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 890354	NM_005359.6(SMAD4):c.*1608T>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 890355	NM_005359.6(SMAD4):c.*1659C>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GBenign
Select item 890356	NM_005359.6(SMAD4):c.*1661C>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 890916	NM_005359.6(SMAD4):c.*1786A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327131	NM_005359.6(SMAD4):c.*1801A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327132	NM_005359.6(SMAD4):c.*1812T>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327133	NM_005359.6(SMAD4):c.*1820T>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more	GBenign/Likely benign
Select item 327134	NM_005359.6(SMAD4):c.*1864C>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GBenign/Likely benign
Select item 327135	NM_005359.6(SMAD4):c.*1866A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GBenign
Select item 888706	NM_005359.6(SMAD4):c.*1874C>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 888707	NM_005359.6(SMAD4):c.*2099G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 327136	NM_005359.6(SMAD4):c.*2122A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GBenign
Select item 890411	NM_005359.6(SMAD4):c.*2215C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 890980	NM_005359.6(SMAD4):c.*2217G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 327137	NM_005359.6(SMAD4):c.*2353C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GBenign
Select item 327138	NM_005359.6(SMAD4):c.*2354G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 327139	NM_005359.6(SMAD4):c.*2361A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GBenign
Select item 327140	NM_005359.6(SMAD4):c.*2461C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 327141	NM_005359.6(SMAD4):c.*2488T>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GBenign/Likely benign
Select item 888777	NM_005359.6(SMAD4):c.*2561G>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 327143	NM_005359.6(SMAD4):c.*2674A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance

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