"Ambry Genetics"[submitter] AND "EMP3"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2370600	NM_001425.3(EMP3):c.22G>A (p.Val8Ile)	EMP3 (V8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537518	NM_001425.3(EMP3):c.50T>C (p.Ile17Thr)	EMP3 (I17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275383	NM_001425.3(EMP3):c.169G>A (p.Val57Ile)	EMP3 (V57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275846	NM_001425.3(EMP3):c.208A>T (p.Met70Leu)	EMP3 (M70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458762	NM_001425.3(EMP3):c.301G>A (p.Gly101Ser)	EMP3, LOC130064849 (G101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258202	NM_001425.3(EMP3):c.320C>T (p.Thr107Ile)	EMP3, LOC130064849 (T107I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253808	NM_001425.3(EMP3):c.359T>C (p.Ile120Thr)	EMP3 (I120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088784	NM_001425.3(EMP3):c.364G>T (p.Ala122Ser)	EMP3 (A122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275382	NM_001425.3(EMP3):c.467A>G (p.Tyr156Cys)	EMP3 (Y156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088785	NM_001425.3(EMP3):c.485G>A (p.Arg162Gln)	EMP3 (R162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance