"Ambry Genetics"[submitter] AND "RXFP1"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3157274	NM_021634.4(RXFP1):c.67C>G (p.Gln23Glu)	RXFP1 (Q23E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2215893	NM_021634.4(RXFP1):c.292G>A (p.Gly98Ser)	RXFP1 (G98S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2312635	NM_021634.4(RXFP1):c.308A>C (p.Gln103Pro)	RXFP1 (Q70P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157272	NM_021634.4(RXFP1):c.356G>A (p.Arg119Gln)	RXFP1 (R86Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157273	NM_021634.4(RXFP1):c.411A>C (p.Leu137Phe)	RXFP1 (L104F +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568826	NM_021634.4(RXFP1):c.635G>A (p.Arg212Gln)	RXFP1 (R239Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324327	NM_021634.4(RXFP1):c.697G>T (p.Val233Phe)	RXFP1 (V233F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157275	NM_021634.4(RXFP1):c.698T>A (p.Val233Asp)	RXFP1 (V101D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342232	NM_021634.4(RXFP1):c.734A>G (p.His245Arg)	RXFP1 (H113R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359879	NM_021634.4(RXFP1):c.738G>A (p.Met246Ile)	RXFP1 (M114I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515910	NM_021634.4(RXFP1):c.935C>T (p.Pro312Leu)	RXFP1 (P182L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542969	NM_021634.4(RXFP1):c.973A>G (p.Asn325Asp)	RXFP1 (N292D +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297552	NM_021634.4(RXFP1):c.1085T>C (p.Met362Thr)	RXFP1 (M281T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527966	NM_021634.4(RXFP1):c.1100T>A (p.Met367Lys)	RXFP1 (M319K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402253	NM_021634.4(RXFP1):c.1378G>A (p.Val460Met)	RXFP1 (V304M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157265	NM_021634.4(RXFP1):c.1417A>G (p.Asn473Asp)	RXFP1 (N317D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157266	NM_021634.4(RXFP1):c.1438A>T (p.Met480Leu)	RXFP1 (M324L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231737	NM_021634.4(RXFP1):c.1462G>T (p.Val488Leu)	RXFP1 (V332L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330099	NM_021634.4(RXFP1):c.1519A>T (p.Thr507Ser)	RXFP1 (T351S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243753	NM_021634.4(RXFP1):c.1670A>G (p.Tyr557Cys)	RXFP1 (Y425C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236758	NM_021634.4(RXFP1):c.1726G>T (p.Ala576Ser)	RXFP1 (A603S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556468	NM_021634.4(RXFP1):c.1732A>T (p.Ile578Phe)	RXFP1 (I447F +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551805	NM_021634.4(RXFP1):c.1886G>A (p.Arg629His)	RXFP1 (R497H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590407	NM_021634.4(RXFP1):c.1962G>T (p.Gln654His)	RXFP1 (Q523H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157268	NM_021634.4(RXFP1):c.1994T>C (p.Val665Ala)	RXFP1 (V632A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157269	NM_021634.4(RXFP1):c.2155T>C (p.Trp719Arg)	RXFP1 (W587R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157270	NM_021634.4(RXFP1):c.2204C>T (p.Pro735Leu)	RXFP1 (P604L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393153	NM_021634.4(RXFP1):c.2214C>A (p.Phe738Leu)	RXFP1 (F606L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157271	NM_021634.4(RXFP1):c.2251A>G (p.Thr751Ala)	RXFP1 (T619A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 29