Related gene-specific medical variations for Gene (Select 4092) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059472	NM_005904.4(SMAD7):c.668-21C>T	LOC126862741, SMAD7 (S28F)	Single nucleotide variant (missense variant +1 more)	SMAD7-related condition	GBenign
Select item 3039455	NM_005904.4(SMAD7):c.234A>G (p.Pro78=)	LOC130062470, SMAD7	Single nucleotide variant (synonymous variant)	SMAD7-related condition	GBenign
Select item 3034497	NM_005904.4(SMAD7):c.255C>T (p.Ala85=)	LOC130062470, SMAD7	Single nucleotide variant (synonymous variant)	SMAD7-related condition	GLikely benign
Select item 2569528	NM_005904.4(SMAD7):c.430G>T (p.Ala144Ser)	LOC130062470, SMAD7 (A144S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2569526	NM_005904.4(SMAD7):c.251C>T (p.Ala84Val)	LOC130062470, SMAD7 (A84V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568858	NM_005904.4(SMAD7):c.413C>T (p.Pro138Leu)	LOC130062470, SMAD7 (P138L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2508621	NM_005904.4(SMAD7):c.244G>A (p.Ala82Thr)	LOC130062470, SMAD7 (A82T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472641	NM_005904.4(SMAD7):c.433C>A (p.Gln145Lys)	LOC130062470, SMAD7 (Q145K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399088	NM_005904.4(SMAD7):c.388G>A (p.Gly130Ser)	LOC130062470, SMAD7 (G130S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385506	NM_005904.4(SMAD7):c.262G>A (p.Ala88Thr)	LOC130062470, SMAD7 (A88T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337761	NM_005904.4(SMAD7):c.211G>T (p.Gly71Cys)	LOC130062470, SMAD7 (G71C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320503	NM_005904.4(SMAD7):c.482A>G (p.Lys161Arg)	LOC130062470, SMAD7 (K161R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277230	NM_005904.4(SMAD7):c.220C>A (p.His74Asn)	LOC130062470, SMAD7 (H74N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240687	NM_005904.4(SMAD7):c.254C>T (p.Ala85Val)	LOC130062470, SMAD7 (A85V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240616	NM_005904.4(SMAD7):c.688C>A (p.Pro230Thr)	LOC126862741, SMAD7 (P230T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 981849	NM_005904.4(SMAD7):c.713C>T (p.Thr238Met)	LOC126862741, SMAD7 (T237M +3 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance