"Ambry Genetics"[submitter] AND "RFPL2"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2410450	NM_001394555.1(RFPL2):c.1117C>T (p.Arg373Cys)	RFPL2 (R305C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153403	NM_001394555.1(RFPL2):c.1067T>C (p.Val356Ala)	RFPL2 (V270A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243287	NM_001394555.1(RFPL2):c.1064G>T (p.Gly355Val)	RFPL2 (G265V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153402	NM_001394555.1(RFPL2):c.1048C>T (p.Pro350Ser)	RFPL2 (P282S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153410	NM_001394555.1(RFPL2):c.931G>T (p.Asp311Tyr)	RFPL2 (D225Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532749	NM_001394555.1(RFPL2):c.895G>C (p.Val299Leu)	RFPL2 (V337L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243952	NM_001394555.1(RFPL2):c.888C>A (p.Phe296Leu)	RFPL2 (F210L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248024	NM_001394555.1(RFPL2):c.878C>T (p.Pro293Leu)	RFPL2 (P207L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153409	NM_001394555.1(RFPL2):c.791G>A (p.Arg264His)	RFPL2 (R174H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236530	NM_001394555.1(RFPL2):c.784G>C (p.Val262Leu)	RFPL2 (V262L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220225	NM_001394555.1(RFPL2):c.781T>A (p.Ser261Thr)	RFPL2 (S175T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512057	NM_001394555.1(RFPL2):c.742G>A (p.Gly248Arg)	RFPL2 (G158R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224906	NM_001394555.1(RFPL2):c.626G>A (p.Arg209Gln)	RFPL2 (R119Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273466	NM_001394555.1(RFPL2):c.494A>G (p.Lys165Arg)	RFPL2 (K165R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602016	NM_001394555.1(RFPL2):c.458G>T (p.Arg153Leu)	RFPL2 (R67L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458750	NM_001394555.1(RFPL2):c.458G>A (p.Arg153His)	RFPL2 (R153H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153407	NM_001394555.1(RFPL2):c.425C>G (p.Ser142Cys)	RFPL2 (S180C +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2218195	NM_001394555.1(RFPL2):c.358G>A (p.Val120Ile)	RFPL2 (V30I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153406	NM_001394555.1(RFPL2):c.331C>A (p.Pro111Thr)	RFPL2 (P149T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206362	NM_001394555.1(RFPL2):c.307G>A (p.Val103Ile)	RFPL2 (V17I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524965	NM_001394555.1(RFPL2):c.263G>A (p.Arg88Lys)	RFPL2 (R126K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278198	NM_001394555.1(RFPL2):c.218G>A (p.Ser73Asn)	RFPL2 (S5N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3153404	NM_001394555.1(RFPL2):c.139G>A (p.Val47Met)	RFPL2 (V85M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617953	NM_001394555.1(RFPL2):c.128G>A (p.Arg43Lys)	RFPL2 (R43K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153405	NM_001394555.1(RFPL2):c.13G>A (p.Glu5Lys)	RFPL2 (E5K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264937	NM_001394555.1(RFPL2):c.4G>C (p.Glu2Gln)	RFPL2 (E2Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 26