"PreventionGenetics, part of Exact Sciences"[submitter] AND "ESR1"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 712708	NM_000125.4(ESR1):c.16C>T (p.His6Tyr)	ESR1 (H6Y)	Single nucleotide variant (missense variant)	ESR1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3034626	NM_000125.4(ESR1):c.18C>T (p.His6=)	ESR1	Single nucleotide variant (synonymous variant)	ESR1-related disorder	GLikely benign
Select item 1180284	NM_000125.4(ESR1):c.261G>C (p.Ala87=)	ESR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 719711	NM_000125.4(ESR1):c.315G>A (p.Pro105=)	ESR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 735137	NM_000125.4(ESR1):c.409A>G (p.Ser137Gly)	ESR1 (S137G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3053378	NM_000125.4(ESR1):c.453-9del	ESR1	Deletion (intron variant)	ESR1-related disorder	GBenign
Select item 789512	NM_000125.4(ESR1):c.478G>T (p.Gly160Cys)	ESR1 (G160C)	Single nucleotide variant (missense variant +1 more)	ESR1-related disorder +1 more	GLikely benign
Select item 781014	NM_000125.4(ESR1):c.933G>A (p.Thr311=)	ESR1	Single nucleotide variant (synonymous variant)	ESR1-related disorder +1 more	GBenign/Likely benign
Select item 1263746	NM_000125.4(ESR1):c.1782G>A (p.Thr594=)	ESR1	Single nucleotide variant (synonymous variant +2 more)	Migraine with or without aura, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 130436	NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met)	ESR1, SYNE1 (L8693M +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +3 more	GBenign
Select item 130434	NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln)	ESR1, SYNE1 (R8687Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +2 more	GBenign
Select item 3036280	NM_182961.4(SYNE1):c.26154-2615C>G	ESR1, SYNE1 (K292N)	Single nucleotide variant (missense variant +1 more)	ESR1-related disorder	GLikely benign