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

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2590000	NM_138777.5(MRRF):c.46C>T (p.Arg16Cys)	MRRF (R16C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3296143	NM_138777.5(MRRF):c.131A>G (p.Tyr44Cys)	MRRF (Y44C +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3209826	NM_138777.5(MRRF):c.142T>A (p.Ser48Thr)	MRRF (S4T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376805	NM_138777.5(MRRF):c.214G>A (p.Val72Met)	MRRF (V72M +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2251066	NM_138777.5(MRRF):c.319C>T (p.Leu107Phe)	MRRF (L107F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269757	NM_138777.5(MRRF):c.332C>G (p.Thr111Ser)	MRRF (T20S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209705	NM_138777.5(MRRF):c.439A>T (p.Asn147Tyr)	MRRF (N56Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391880	NM_138777.5(MRRF):c.469G>A (p.Ala157Thr)	MRRF (A113T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268426	NM_138777.5(MRRF):c.470C>T (p.Ala157Val)	MRRF (A113V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3209853	NM_138777.5(MRRF):c.493A>G (p.Ser165Gly)	MRRF (S165G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3296142	NM_138777.5(MRRF):c.530T>G (p.Leu177Arg)	MRRF (L198R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3296141	NM_138777.5(MRRF):c.610G>A (p.Ala204Thr)	MRRF (A113T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510278	NM_138777.5(MRRF):c.626G>A (p.Arg209Gln)	MRRF (R118Q +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3209862	NM_138777.5(MRRF):c.665C>T (p.Ser222Phe)	MRRF (S131F +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance