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

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 183782	NM_005359.6(SMAD4):c.276T>C (p.His92=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 492478	NM_005359.6(SMAD4):c.325C>T (p.Leu109=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 420231	NM_005359.6(SMAD4):c.332A>C (p.His111Pro)	SMAD4 (H111P)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
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 492480	NM_005359.6(SMAD4):c.425-17C>T	SMAD4	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
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 188279	NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)	SMAD4 (T174N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 460556	NM_005359.6(SMAD4):c.525A>G (p.Glu175=)	SMAD4	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1062509	NM_005359.6(SMAD4):c.553C>T (p.Pro185Ser)	SMAD4 (P185S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 215844	NM_005359.6(SMAD4):c.693C>T (p.Gly231=)	SMAD4	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 529909	NM_005359.6(SMAD4):c.698A>G (p.His233Arg)	SMAD4 (H233R)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 378626	NM_005359.6(SMAD4):c.787+15T>G	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +3 more	GLikely benign
Select item 1003211	NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe)	SMAD4 (Y276F)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 24817	NM_005359.6(SMAD4):c.905-52A>G	SMAD4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 460574	NM_005359.6(SMAD4):c.956-4A>G	SMAD4	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 8543	NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)	SMAD4 (R361C)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +5 more	GPathogenic/Likely pathogenic
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 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 231979	NM_005359.6(SMAD4):c.1218G>A (p.Ala406=)	SMAD4	Single nucleotide variant (synonymous variant)	SMAD4-related condition +6 more	GBenign/Likely benign
Select item 460530	NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)	SMAD4 (V407L)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +7 more	GConflicting classifications of pathogenicity
Select item 240145	NM_005359.6(SMAD4):c.1447+9G>A	SMAD4	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 994267	NM_005359.6(SMAD4):c.1448-33T>A	SMAD4	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 231980	NM_005359.6(SMAD4):c.1647A>G (p.Gln549=)	SMAD4	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +5 more	GBenign/Likely benign
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 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 327175	NM_005359.6(SMAD4):c.*5131A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	not specified +4 more	GBenign; confers sensitivity

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Items: 29