"Ambry Genetics"[submitter] AND "MRPL3"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3207331	NM_007208.4(MRPL3):c.1021G>C (p.Gly341Arg)	MRPL3 (G341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331996	NM_007208.4(MRPL3):c.1019C>T (p.Pro340Leu)	MRPL3 (P340L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1203624	NM_007208.4(MRPL3):c.985C>T (p.Pro329Ser)	MRPL3 (P329S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2294630	NM_007208.4(MRPL3):c.902A>G (p.Asp301Gly)	MRPL3 (D301G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509787	NM_007208.4(MRPL3):c.806A>G (p.Tyr269Cys)	MRPL3 (Y269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524558	NM_007208.4(MRPL3):c.692A>G (p.His231Arg)	MRPL3 (H231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1304961	NM_007208.4(MRPL3):c.611T>G (p.Val204Gly)	MRPL3 (V204G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2486620	NM_007208.4(MRPL3):c.607T>C (p.Tyr203His)	MRPL3 (Y203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296000	NM_007208.4(MRPL3):c.556G>A (p.Ala186Thr)	MRPL3 (A186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207356	NM_007208.4(MRPL3):c.554C>T (p.Ala185Val)	MRPL3 (A185V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2488053	NM_007208.4(MRPL3):c.497G>A (p.Arg166Gln)	MRPL3 (R166Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2574363	NM_007208.4(MRPL3):c.467G>A (p.Arg156His)	MRPL3 (R156H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3207345	NM_007208.4(MRPL3):c.460C>T (p.Arg154Cys)	MRPL3 (R154C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244767	NM_007208.4(MRPL3):c.395A>G (p.Tyr132Cys)	MRPL3 (Y132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213722	NM_007208.4(MRPL3):c.370G>A (p.Val124Ile)	MRPL3 (V124I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207337	NM_007208.4(MRPL3):c.328T>C (p.Trp110Arg)	MRPL3 (W110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619363	NM_007208.4(MRPL3):c.284T>C (p.Phe95Ser)	MRPL3 (F95S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220031	NM_007208.4(MRPL3):c.61G>C (p.Gly21Arg)	LOC105374114, MRPL3 (G21R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3207355	NM_007208.4(MRPL3):c.52C>T (p.Leu18Phe)	LOC105374114, MRPL3 (L18F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance