"Ambry Genetics"[submitter] AND "SMAD7"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2526882	NM_005904.4(SMAD7):c.1166C>T (p.Pro389Leu)	SMAD7 (P388L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508694	NM_005904.4(SMAD7):c.1114G>A (p.Glu372Lys)	SMAD7 (E372K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324096	NM_005904.4(SMAD7):c.1033G>A (p.Ala345Thr)	SMAD7 (A130T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240616	NM_005904.4(SMAD7):c.688C>A (p.Pro230Thr)	LOC126862741, SMAD7 (P230T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496374	NM_005904.4(SMAD7):c.625C>T (p.Pro209Ser)	SMAD7 (P209S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320503	NM_005904.4(SMAD7):c.482A>G (p.Lys161Arg)	LOC130062470, SMAD7 (K161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472641	NM_005904.4(SMAD7):c.433C>A (p.Gln145Lys)	LOC130062470, SMAD7 (Q145K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166255	NM_005904.4(SMAD7):c.431C>A (p.Ala144Glu)	LOC130062470, SMAD7 (A144E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569528	NM_005904.4(SMAD7):c.430G>T (p.Ala144Ser)	LOC130062470, SMAD7 (A144S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2568858	NM_005904.4(SMAD7):c.413C>T (p.Pro138Leu)	LOC130062470, SMAD7 (P138L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399088	NM_005904.4(SMAD7):c.388G>A (p.Gly130Ser)	LOC130062470, SMAD7 (G130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166253	NM_005904.4(SMAD7):c.281C>T (p.Ala94Val)	LOC130062470, SMAD7 (A94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385506	NM_005904.4(SMAD7):c.262G>A (p.Ala88Thr)	LOC130062470, SMAD7 (A88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240687	NM_005904.4(SMAD7):c.254C>T (p.Ala85Val)	LOC130062470, SMAD7 (A85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569526	NM_005904.4(SMAD7):c.251C>T (p.Ala84Val)	LOC130062470, SMAD7 (A84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508621	NM_005904.4(SMAD7):c.244G>A (p.Ala82Thr)	LOC130062470, SMAD7 (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277230	NM_005904.4(SMAD7):c.220C>A (p.His74Asn)	LOC130062470, SMAD7 (H74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337761	NM_005904.4(SMAD7):c.211G>T (p.Gly71Cys)	LOC130062470, SMAD7 (G71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247899	NM_005904.4(SMAD7):c.166G>A (p.Gly56Ser)	SMAD7 (G56S)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 3 +1 more	GUncertain significance
Select item 2569525	NM_005904.4(SMAD7):c.163C>G (p.Pro55Ala)	SMAD7 (P55A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569524	NM_005904.4(SMAD7):c.133A>G (p.Ser45Gly)	SMAD7 (S45G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3166252	NM_005904.4(SMAD7):c.124G>A (p.Ala42Thr)	SMAD7 (A42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166251	NM_005904.4(SMAD7):c.113G>A (p.Arg38Gln)	SMAD7 (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273474	NM_005904.4(SMAD7):c.103G>A (p.Gly35Ser)	SMAD7 (G35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341769	NM_005904.4(SMAD7):c.88G>A (p.Gly30Arg)	SMAD7 (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569529	NM_005904.4(SMAD7):c.85G>T (p.Gly29Trp)	SMAD7 (G29W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274631	NM_005904.4(SMAD7):c.78G>C (p.Glu26Asp)	SMAD7 (E26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482930	NM_005904.4(SMAD7):c.55C>G (p.Pro19Ala)	SMAD7 (P19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510111	NM_005904.4(SMAD7):c.34C>A (p.Arg12Ser)	SMAD7 (R12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 29