"Eurofins Ntd Llc (ga)"[submitter] AND "ESR1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593818	NM_182961.4(SYNE1):c.26372C>A (p.Thr8791Lys)	SYNE1, ESR1 (T8791K +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 502164	NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met)	ESR1, SYNE1 (T8743M +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 284514	NM_182961.4(SYNE1):c.26370C>A (p.Tyr8790Ter)	ESR1, SYNE1 (Y8742* +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
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 499024	NM_182961.4(SYNE1):c.26345G>A (p.Arg8782Gln)	ESR1, SYNE1 (R8734Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
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)	not provided +2 more	GUncertain significance
Select item 502729	NM_182961.4(SYNE1):c.26301G>A (p.Met8767Ile)	ESR1, SYNE1 (M8719I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	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)	Autosomal recessive ataxia, Beauce type +3 more	GBenign/Likely benign
Select item 500362	NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln)	ESR1, SYNE1 (R8698Q +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)	Autosomal recessive ataxia, Beauce type +3 more	GConflicting classifications of pathogenicity
Select item 130435	NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser)	ESR1, SYNE1 (G8689S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GBenign
Select item 289958	NM_182961.4(SYNE1):c.26206T>G (p.Ser8736Ala)	SYNE1, ESR1 (S8688A +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 596072	NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu)	ESR1, SYNE1 (R8735L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 288507	NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn)	ESR1, SYNE1 (D8677N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance