"Ambry Genetics"[submitter] AND "ESR2"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276490	NM_001437.3(ESR2):c.1559G>T (p.Ser520Ile)	ESR2 (S429I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3276489	NM_001437.3(ESR2):c.1546G>A (p.Glu516Lys)	ESR2 (E516K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090538	NM_001437.3(ESR2):c.1526G>A (p.Gly509Glu)	ESR2 (G418E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517648	NM_001437.3(ESR2):c.1508G>A (p.Cys503Tyr)	ESR2 (C503Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2515614	NM_001437.3(ESR2):c.1504G>A (p.Gly502Arg)	ESR2 (G411R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278270	NM_001437.3(ESR2):c.1317G>T (p.Trp439Cys)	ESR2 (W348C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3090536	NM_001437.3(ESR2):c.1297G>A (p.Val433Met)	ESR2 (V433M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090535	NM_001437.3(ESR2):c.1294G>A (p.Ala432Thr)	ESR2 (A341T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090534	NM_001437.3(ESR2):c.1268G>A (p.Ser423Asn)	ESR2 (S423N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090533	NM_001437.3(ESR2):c.1264A>G (p.Ser422Gly)	ESR2 (S331G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090532	NM_001437.3(ESR2):c.1244C>T (p.Thr415Ile)	ESR2 (T415I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309687	NM_001437.3(ESR2):c.1229T>C (p.Met410Thr)	ESR2, LOC130055821 (M410T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602955	NM_001437.3(ESR2):c.1216C>G (p.Leu406Val)	ESR2 (L406V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267012	NM_001437.3(ESR2):c.1163G>A (p.Arg388Gln)	ESR2 (R388Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2271034	NM_001437.3(ESR2):c.1151C>T (p.Thr384Ile)	ESR2 (T384I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411256	NM_001437.3(ESR2):c.1102A>G (p.Lys368Glu)	ESR2 (K368E)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2615023	NM_001437.3(ESR2):c.1058A>T (p.Lys353Met)	ESR2 (K353M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3276491	NM_001437.3(ESR2):c.1046A>T (p.Asp349Val)	ESR2 (D349V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259450	NM_001437.3(ESR2):c.904G>T (p.Ala302Ser)	ESR2 (A302S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467952	NM_001437.3(ESR2):c.871G>A (p.Glu291Lys)	ESR2 (E291K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370812	NM_001437.3(ESR2):c.853C>T (p.Pro285Ser)	ESR2 (P285S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090545	NM_001437.3(ESR2):c.849C>A (p.Ser283Arg)	ESR2 (S283R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276492	NM_001437.3(ESR2):c.796G>A (p.Glu266Lys)	ESR2 (E266K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090544	NM_001437.3(ESR2):c.792C>A (p.Ser264Arg)	ESR2 (S264R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090543	NM_001437.3(ESR2):c.776T>C (p.Leu259Pro)	ESR2 (L259P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239449	NM_001437.3(ESR2):c.761G>C (p.Arg254Pro)	ESR2 (R254P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456976	NM_001437.3(ESR2):c.755C>T (p.Ala252Val)	ESR2 (A252V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2607089	NM_001437.3(ESR2):c.736A>G (p.Lys246Glu)	ESR2 (K246E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2899712	NM_001437.3(ESR2):c.689G>A (p.Arg230Gln)	ESR2 (R230Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2723319	NM_001437.3(ESR2):c.683T>C (p.Leu228Pro)	ESR2 (L228P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3090541	NM_001437.3(ESR2):c.614G>T (p.Arg205Leu)	ESR2 (R205L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1960807	NM_001437.3(ESR2):c.460G>A (p.Asp154Asn)	ESR2 (D154N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2511233	NM_001437.3(ESR2):c.400G>A (p.Ala134Thr)	ESR2 (A134T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3090540	NM_001437.3(ESR2):c.364G>A (p.Glu122Lys)	ESR2 (E122K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090539	NM_001437.3(ESR2):c.278G>A (p.Arg93His)	ESR2 (R93H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551172	NM_001437.3(ESR2):c.211C>T (p.Arg71Trp)	ESR2 (R71W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090531	NM_001437.3(ESR2):c.109G>A (p.Val37Ile)	ESR2 (V37I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090546	NM_001437.3(ESR2):c.86C>A (p.Ser29Tyr)	ESR2 (S29Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520875	NM_001437.3(ESR2):c.82G>A (p.Gly28Ser)	ESR2 (G28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1411054	NM_001437.3(ESR2):c.64A>G (p.Ile22Val)	ESR2 (I22V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity

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Items: 40