C1832942[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678999	NM_005359.6(SMAD4):c.31A>C (p.Thr11Pro)	SMAD4 (T11P)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 68788	NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser)	SMAD4 (N13S)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 3019377	NM_005359.6(SMAD4):c.259C>T (p.Arg87Trp)	SMAD4 (R87W)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more	GUncertain significance
Select item 420231	NM_005359.6(SMAD4):c.332A>C (p.His111Pro)	SMAD4 (H111P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 3240522	NM_005359.6(SMAD4):c.359A>T (p.Asp120Val)	SMAD4 (D120V)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 2679001	NM_005359.6(SMAD4):c.455-2A>T	SMAD4	Single nucleotide variant (splice acceptor variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely pathogenic
Select item 649107	NM_005359.6(SMAD4):c.457C>T (p.Pro153Ser)	SMAD4 (P153S)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 more	GUncertain significance
Select item 185116	NM_005359.6(SMAD4):c.466ATG[1] (p.Met157del)	SMAD4 (M157del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 232898	NM_005359.6(SMAD4):c.491A>G (p.His164Arg)	SMAD4 (H164R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 1388856	NM_005359.6(SMAD4):c.530A>G (p.His177Arg)	SMAD4 (H177R)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GUncertain significance
Select item 185866	NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)	SMAD4 (I179V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GUncertain significance
Select item 1399419	NM_005359.6(SMAD4):c.542C>G (p.Thr181Ser)	SMAD4 (T181S)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more	GUncertain significance
Select item 240150	NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu)	SMAD4 (P185L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 405486	NM_005359.6(SMAD4):c.560G>A (p.Ser187Asn)	SMAD4 (S187N)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 136076	NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile)	SMAD4 (T192I)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 2678998	NM_005359.6(SMAD4):c.592C>G (p.Pro198Ala)	SMAD4 (P198A)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 182868	NM_005359.6(SMAD4):c.607C>G (p.Pro203Ala)	SMAD4 (P203A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 826178	NM_005359.6(SMAD4):c.608C>T (p.Pro203Leu)	SMAD4 (P203L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 934027	NM_005359.6(SMAD4):c.635C>T (p.Ala212Val)	SMAD4 (A212V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 418498	NM_005359.6(SMAD4):c.643C>T (p.Pro215Ser)	SMAD4 (P215S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 492485	NM_005359.6(SMAD4):c.644C>G (p.Pro215Arg)	SMAD4 (P215R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 659865	NM_005359.6(SMAD4):c.652C>A (p.Pro218Thr)	SMAD4 (P218T)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 484795	NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala)	SMAD4 (T222A)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 405505	NM_005359.6(SMAD4):c.667+6T>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 136077	NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)	SMAD4 (Q224L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 1499047	NM_005359.6(SMAD4):c.673C>T (p.Pro225Ser)	SMAD4 (P225S)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more	GUncertain significance
Select item 619726	NM_005359.6(SMAD4):c.682A>G (p.Ile228Val)	SMAD4 (I228V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 492490	NM_005359.6(SMAD4):c.700A>G (p.Ser234Gly)	SMAD4 (S234G)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 3240523	NM_005359.6(SMAD4):c.719T>G (p.Ile240Arg)	SMAD4 (I240R)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 460564	NM_005359.6(SMAD4):c.745C>G (p.Gln249Glu)	SMAD4 (Q249E)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 460565	NM_005359.6(SMAD4):c.763G>T (p.Gly255Cys)	SMAD4 (G255C)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GUncertain significance
Select item 2679000	NM_005359.6(SMAD4):c.788-16G>A	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 1032991	NM_005359.6(SMAD4):c.803_804insCTAAGTGGTAGTA (p.Trp268delinsCysTer)	SMAD4	Insertion (nonsense)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely pathogenic
Select item 529933	NM_005359.6(SMAD4):c.812G>A (p.Ser271Asn)	SMAD4 (S271N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1496484	NM_005359.6(SMAD4):c.821C>T (p.Ala274Val)	SMAD4 (A274V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GUncertain significance
Select item 954869	NM_005359.6(SMAD4):c.844C>T (p.His282Tyr)	SMAD4 (H282Y)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GUncertain significance
Select item 460568	NM_005359.6(SMAD4):c.845A>C (p.His282Pro)	SMAD4 (H282P)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GUncertain significance
Select item 529949	NM_005359.6(SMAD4):c.856G>A (p.Gly286Ser)	SMAD4 (G286S)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more	GUncertain significance
Select item 184326	NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu)	SMAD4 (P292L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 240155	NM_005359.6(SMAD4):c.884C>T (p.Pro295Leu)	SMAD4 (P295L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 3240521	NM_005359.6(SMAD4):c.899A>T (p.His300Leu)	SMAD4 (H300L)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 182870	NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser)	SMAD4 (N306S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 823137	NM_005359.6(SMAD4):c.926C>T (p.Ala309Val)	SMAD4 (A309V)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 more	GUncertain significance
Select item 1041597	NM_005359.6(SMAD4):c.932A>G (p.Gln311Arg)	SMAD4 (Q311R)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 more	GUncertain significance
Select item 183879	NM_005359.6(SMAD4):c.940A>G (p.Ile314Val)	SMAD4 (I314V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1003483	NM_005359.6(SMAD4):c.955+5G>A	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 419077	NM_005359.6(SMAD4):c.1002G>T (p.Gln334His)	SMAD4 (Q334H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 185189	NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile)	SMAD4 (T349I)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 142165	NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser)	SMAD4 (N369S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 652695	NM_005359.6(SMAD4):c.1213C>T (p.His405Tyr)	SMAD4 (H405Y)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 more	GUncertain significance
Select item 422930	NM_005359.6(SMAD4):c.1217C>T (p.Ala406Val)	SMAD4 (A406V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 460530	NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)	SMAD4 (V407L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GConflicting classifications of pathogenicity
Select item 182867	NM_005359.6(SMAD4):c.1231_1232del (p.Ser411fs)	SMAD4 (S411fs)	Microsatellite (frameshift variant)	Juvenile polyposis syndrome +2 more	GPathogenic
Select item 630730	NM_005359.6(SMAD4):c.1258C>T (p.Arg420Cys)	SMAD4 (R420C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 630855	NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile)	SMAD4 (V437I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 640252	NM_005359.6(SMAD4):c.1321C>T (p.Arg441Cys)	SMAD4 (R441C)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more	GUncertain significance
Select item 3240520	NM_005359.6(SMAD4):c.1373C>T (p.Ala458Val)	SMAD4 (A458V)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 184929	NM_005359.6(SMAD4):c.1393G>A (p.Val465Met)	SMAD4 (V465M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 230933	NM_005359.6(SMAD4):c.1405A>G (p.Ile469Val)	SMAD4 (I469V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 529954	NM_005359.6(SMAD4):c.1409del (p.Pro470fs)	SMAD4 (P470fs)	Deletion (frameshift variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 88673	NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)	SMAD4 (R496C)	Single nucleotide variant (missense variant)	Myhre 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)	Neurodevelopmental delay +9 more	GPathogenic
Select item 2679003	NM_005359.6(SMAD4):c.1515dup (p.Val506fs)	SMAD4 (V506fs)	Duplication (frameshift variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely pathogenic
Select item 1372436	NM_005359.6(SMAD4):c.1523del (p.Gly508fs)	SMAD4 (G508fs)	Deletion (frameshift variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 847904	NM_005359.6(SMAD4):c.1540_1541delinsTT (p.Pro514Leu)	SMAD4 (P514L)	Indel (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 545806	NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs)	SMAD4 (S517fs)	Microsatellite (frameshift variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 more	GPathogenic/Likely pathogenic
Select item 962185	NM_005359.6(SMAD4):c.1574T>C (p.Ile525Thr)	SMAD4 (I525T)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 2711473	NM_005359.6(SMAD4):c.1630C>T (p.Pro544Ser)	SMAD4 (P544S)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GUncertain significance
Select item 2678997	NM_005359.6(SMAD4):c.1631C>T (p.Pro544Leu)	SMAD4 (P544L)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 548845	NM_005359.6(SMAD4):c.1647del (p.Gln549fs)	SMAD4 (Q549fs)	Deletion (frameshift variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GUncertain significance

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Items: 70