ClinVar for MedGen (Select 167103) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2626886	NM_005359.6(SMAD4):c.875del (p.Pro292fs)	SMAD4 (P292fs)	Deletion (frameshift variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2572319	NM_005359.6(SMAD4):c.50_51del (p.Leu17fs)	SMAD4 (L17fs)	Deletion (frameshift variant +1 more)	Myhre syndrome	GLikely pathogenic
Select item 2431654	NM_005359.6(SMAD4):c.*1837C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome	GUncertain significance
Select item 1734287	NM_005359.6(SMAD4):c.372_373dup (p.Ser125fs)	SMAD4 (S125fs)	Duplication (frameshift variant)	Myhre syndrome +2 more	GPathogenic
Select item 1461164	NM_005359.6(SMAD4):c.908C>A (p.Pro303His)	SMAD4 (P303H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 1003211	NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe)	SMAD4 (Y276F)	Single nucleotide variant (missense variant)	Myhre syndrome +6 more	GUncertain significance
Select item 922557	NM_005359.6(SMAD4):c.1629G>C (p.Met543Ile)	SMAD4 (M543I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 892539	NM_005359.6(SMAD4):c.*5745T>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 892482	NM_005359.6(SMAD4):c.*5549A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 892481	NM_005359.6(SMAD4):c.*5547A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 892266	NM_005359.6(SMAD4):c.*2941A>G	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 892059	NM_005359.6(SMAD4):c.*936A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
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 891793	NM_005359.6(SMAD4):c.-127G>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891345	NM_005359.6(SMAD4):c.*5710T>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891344	NM_005359.6(SMAD4):c.*5631A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891286	NM_005359.6(SMAD4):c.*5542C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891181	NM_005359.6(SMAD4):c.*4262T>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891180	NM_005359.6(SMAD4):c.*4066C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891129	NM_005359.6(SMAD4):c.*3226G>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891042	NM_005359.6(SMAD4):c.*2897G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre 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 890916	NM_005359.6(SMAD4):c.*1786A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre 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 890822	NM_005359.6(SMAD4):c.*745C>T	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 890775	NM_005359.6(SMAD4):c.*332A>G	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 890628	NM_005359.6(SMAD4):c.*3950A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890563	NM_005359.6(SMAD4):c.*3223A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890485	NM_005359.6(SMAD4):c.*2675A>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
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 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 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 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 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 890254	NM_005359.6(SMAD4):c.*704G>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 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 889979	NM_005359.6(SMAD4):c.-400C>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 889799	NM_005359.6(SMAD4):c.*5609T>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889739	NM_005359.6(SMAD4):c.*5541G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889738	NM_005359.6(SMAD4):c.*5534C>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 889606	NM_005359.6(SMAD4):c.*580A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
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 889543	NM_005359.6(SMAD4):c.*170A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
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 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 889298	NM_005359.6(SMAD4):c.-504A>G	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
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 889242	NM_005359.6(SMAD4):c.*6522C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 889181	NM_005359.6(SMAD4):c.*5833G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 889106	NM_005359.6(SMAD4):c.*5557A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889105	NM_005359.6(SMAD4):c.*5555A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889104	NM_005359.6(SMAD4):c.*5553A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889049	NM_005359.6(SMAD4):c.*5282T>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 888985	NM_005359.6(SMAD4):c.*4707G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 888930	NM_005359.6(SMAD4):c.*3746A>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 888929	NM_005359.6(SMAD4):c.*3679A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 888928	NM_005359.6(SMAD4):c.*3662C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GBenign
Select item 888863	NM_005359.6(SMAD4):c.*3109T>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
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 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 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 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 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 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 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 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 628325	NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu)	SMAD4 (M447L)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +5 more	GUncertain significance
Select item 575340	NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg)	SMAD4 (G230R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 548563	NM_005359.6(SMAD4):c.1308+2T>C	SMAD4	Single nucleotide variant (splice donor variant)	Myhre syndrome +2 more	GPathogenic
Select item 492458	NM_005359.6(SMAD4):c.1124C>T (p.Ala375Val)	SMAD4 (A375V)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +6 more	GUncertain significance
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 484792	NM_005359.6(SMAD4):c.298A>C (p.Arg100=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 460557	NM_005359.6(SMAD4):c.566G>A (p.Arg189His)	SMAD4 (R189H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 460541	NM_005359.6(SMAD4):c.1545A>G (p.Arg515=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 460530	NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)	SMAD4 (V407L)	Single nucleotide variant (missense variant)	Myhre syndrome +7 more	GConflicting classifications of pathogenicity
Select item 438836	NM_005359.6(SMAD4):c.209A>G (p.Lys70Arg)	SMAD4 (K70R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 419954	NM_005359.6(SMAD4):c.181A>G (p.Ile61Val)	SMAD4 (I61V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GUncertain significance
Select item 419554	NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val)	SMAD4 (L551V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +6 more	GUncertain significance
Select item 413437	NM_005359.6(SMAD4):c.1632G>A (p.Pro544=)	SMAD4	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +7 more	GConflicting classifications of pathogenicity
Select item 413431	NM_005359.6(SMAD4):c.1125C>T (p.Ala375=)	SMAD4	Single nucleotide variant (synonymous variant)	Carcinoma of pancreas +5 more	GLikely benign
Select item 393140	NM_005359.6(SMAD4):c.155A>T (p.Asp52Val)	SMAD4 (D52V)	Single nucleotide variant (missense variant)	SMAD4-related condition +7 more	GUncertain significance
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 379190	NM_005359.6(SMAD4):c.1492T>C (p.Leu498=)	SMAD4	Single nucleotide variant (synonymous variant)	Myhre syndrome +7 more	GConflicting classifications of pathogenicity
Select item 378973	NM_005359.6(SMAD4):c.876G>A (p.Pro292=)	SMAD4	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +6 more	GConflicting classifications of pathogenicity
Select item 369252	NM_005359.5(SMAD4):c.*6588C>G	SMAD4	Single nucleotide variant	Juvenile Polyposis +2 more	GLikely benign
Select item 369251	NM_005359.5(SMAD4):c.*6586C>T	SMAD4	Single nucleotide variant	Juvenile Polyposis +2 more	GLikely benign
Select item 327219	NM_005359.6(SMAD4):c.*6513C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GBenign
Select item 327218	NM_005359.6(SMAD4):c.*6492A>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GBenign/Likely benign
Select item 327217	NM_005359.6(SMAD4):c.*6423G>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GBenign
Select item 327216	NM_005359.6(SMAD4):c.*6408C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327215	NM_005359.6(SMAD4):c.*6353del	SMAD4	Deletion (3 prime UTR variant)	Juvenile Polyposis +2 more	GLikely benign
Select item 327214	NM_005359.6(SMAD4):c.*6158GATT[1]	SMAD4	Microsatellite (3 prime UTR variant)	Juvenile Polyposis +3 more	GConflicting classifications of pathogenicity
Select item 327213	NM_005359.6(SMAD4):c.*6057G>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 327212	NM_005359.6(SMAD4):c.*6009G>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GBenign/Likely benign

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