"Ambry Genetics"[submitter] AND "SMUG1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2224215	NM_001243787.2(SMUG1):c.730A>G (p.Asn244Asp)	SMUG1 (N142D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610907	NM_001243787.2(SMUG1):c.647T>C (p.Leu216Pro)	SMUG1 (L114P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328386	NM_001243787.2(SMUG1):c.638T>C (p.Val213Ala)	SMUG1 (V213A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334970	NM_001243787.2(SMUG1):c.623G>A (p.Arg208Gln)	SMUG1 (R106Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228550	NM_001243787.2(SMUG1):c.415G>T (p.Ala139Ser)	SMUG1 (A139S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214650	NM_001243787.2(SMUG1):c.360G>C (p.Glu120Asp)	SMUG1 (E120D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407453	NM_001243787.2(SMUG1):c.256C>G (p.Pro86Ala)	SMUG1 (P86A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373072	NM_001243787.2(SMUG1):c.196C>T (p.Arg66Cys)	SMUG1 (R66C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276285	NM_001243787.2(SMUG1):c.105G>T (p.Glu35Asp)	SMUG1 (E35D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2622276	NM_001243787.2(SMUG1):c.25T>C (p.Ser9Pro)	SMUG1 (S9P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2533240	NM_001243787.2(SMUG1):c.23G>A (p.Gly8Glu)	SMUG1 (G8E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance