"Ambry Genetics"[submitter] AND "TRAM1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2496058	NM_014294.6(TRAM1):c.1037C>A (p.Ser346Tyr)	TRAM1 (S260Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488556	NM_014294.6(TRAM1):c.1004A>G (p.Lys335Arg)	TRAM1 (K335R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222834	NM_014294.6(TRAM1):c.916G>A (p.Val306Ile)	TRAM1 (V275I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2383876	NM_014294.6(TRAM1):c.622G>A (p.Ala208Thr)	TRAM1 (A177T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546103	NM_014294.6(TRAM1):c.551A>G (p.Tyr184Cys)	TRAM1 (Y153C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365240	NM_014294.6(TRAM1):c.508A>G (p.Ile170Val)	TRAM1 (I139V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541418	NM_014294.6(TRAM1):c.410C>T (p.Thr137Ile)	TRAM1 (T137I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406864	NM_014294.6(TRAM1):c.400G>A (p.Val134Ile)	TRAM1 (V48I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2523607	NM_014294.6(TRAM1):c.286G>A (p.Val96Ile)	TRAM1 (V96I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2305665	NM_014294.6(TRAM1):c.254T>G (p.Phe85Cys)	TRAM1 (F54C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528753	NM_014294.6(TRAM1):c.94A>G (p.Met32Val)	LOC130000570, TRAM1 (M32V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance