"ESR2-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1260211	NM_001271876.1(ESR2):c.1421A>C (p.Lys474Thr)	ESR2 (K474T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1267790	NM_001437.3(ESR2):c.1407-4A>G	ESR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 778482	NM_001437.3(ESR2):c.1323T>C (p.Ile441=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2909321	NM_001437.3(ESR2):c.1302C>T (p.Thr434=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	ESR2-related condition +1 more	GLikely benign
Select item 713136	NM_001437.3(ESR2):c.1176C>G (p.Leu392=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 1228925	NM_001437.3(ESR2):c.984G>A (p.Val328=)	ESR2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 2057970	NM_001437.3(ESR2):c.953-10C>T	ESR2	Single nucleotide variant (non-coding transcript variant +1 more)	ESR2-related condition +1 more	GBenign
Select item 735376	NM_001437.3(ESR2):c.808C>T (p.Leu270Phe)	ESR2 (L270F)	Single nucleotide variant (missense variant +1 more)	ESR2-related condition +1 more	GLikely benign
Select item 1657467	NM_001437.3(ESR2):c.801G>T (p.Gln267His)	ESR2 (Q267H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 756314	NM_001437.3(ESR2):c.748G>A (p.Gly250Ser)	ESR2 (G250S)	Single nucleotide variant (missense variant +1 more)	ESR2-related condition +1 more	GBenign/Likely benign
Select item 1335149	NM_001437.3(ESR2):c.693A>G (p.Arg231=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 717630	NM_001437.3(ESR2):c.661A>G (p.Arg221Gly)	ESR2 (R221G)	Single nucleotide variant (missense variant +1 more)	ESR2-related condition +1 more	GLikely benign
Select item 717002	NM_001437.3(ESR2):c.630C>T (p.Tyr210=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	ESR2-related condition +1 more	GBenign
Select item 3032230	NM_001437.3(ESR2):c.536-7G>T	ESR2	Single nucleotide variant (intron variant)	ESR2-related condition	GLikely benign
Select item 728713	NM_001437.3(ESR2):c.468A>T (p.Ala156=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 735951	NM_001437.3(ESR2):c.369A>C (p.Thr123=)	ESR2	Single nucleotide variant (synonymous variant +1 more)	ESR2-related condition +1 more	GLikely benign
Select item 728714	NM_001437.3(ESR2):c.7A>G (p.Ile3Val)	ESR2 (I3V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign