"Ambry Genetics"[submitter] AND "RFC2"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2317643	NM_181471.3(RFC2):c.980T>G (p.Ile327Arg)	RFC2 (I293R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226397	NM_181471.3(RFC2):c.973A>G (p.Met325Val)	RFC2 (M224V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245090	NM_181471.3(RFC2):c.869A>T (p.Tyr290Phe)	RFC2 (Y256F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620054	NM_181471.3(RFC2):c.758A>T (p.Lys253Met)	RFC2 (K253M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153351	NM_181471.3(RFC2):c.671C>T (p.Thr224Met)	RFC2 (T123M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247139	NM_181471.3(RFC2):c.646G>A (p.Asp216Asn)	RFC2 (D113N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239643	NM_181471.3(RFC2):c.617T>C (p.Ile206Thr)	RFC2 (I71T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458436	NM_181471.3(RFC2):c.572C>T (p.Thr191Ile)	RFC2 (T157I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153349	NM_181471.3(RFC2):c.565C>T (p.Arg189Trp)	RFC2 (R155W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153348	NM_181471.3(RFC2):c.436A>G (p.Met146Val)	RFC2 (M112V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338841	NM_181471.3(RFC2):c.343G>A (p.Val115Ile)	RFC2 (V115I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296139	NM_181471.3(RFC2):c.184G>A (p.Val62Ile)	RFC2 (V62I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2276277	NM_181471.3(RFC2):c.67G>T (p.Ala23Ser)	RFC2 (A23S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2208333	NM_181471.3(RFC2):c.65C>T (p.Pro22Leu)	RFC2 (P22L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2592130	NM_181471.3(RFC2):c.47A>G (p.Gln16Arg)	RFC2 (Q16R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance