"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ESR1"[gene - ClinVar - NCBI

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Items: 11

	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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2656999	NM_000125.4(ESR1):c.115C>T (p.Leu39=)	ESR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790988	NM_000125.4(ESR1):c.352T>C (p.Ser118Pro)	ESR1 (S118P)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1176214	NM_000125.4(ESR1):c.1638C>T (p.Ala546=)	ESR1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 355802	NM_182961.4(SYNE1):c.*191A>G	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 283646	NM_182961.4(SYNE1):c.26355C>T (p.His8785=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 448595	NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys)	ESR1, SYNE1 (S8729C +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 285052	NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 2657000	NM_182961.4(SYNE1):c.26277C>T (p.Ile8759=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1425327	NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His)	ESR1, SYNE1 (R8738H +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 282665	NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys)	ESR1, SYNE1 (R8690C +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GConflicting classifications of pathogenicity