"Eurofins Ntd Llc (ga)"[submitter] AND "SYNE1"[gene] - ClinVar - NCBI

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	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)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +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=)	SYNE1, ESR1	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)	SYNE1, ESR1 (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)	not provided +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)	not provided +2 more	GUncertain significance
Select item 282665	NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys)	SYNE1, ESR1 (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)	not specified +2 more	GBenign
Select item 289958	NM_182961.4(SYNE1):c.26206T>G (p.Ser8736Ala)	ESR1, SYNE1 (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)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +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)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 497363	NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=)	SYNE1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 497364	NM_182961.4(SYNE1):c.26100A>G (p.Arg8700=)	SYNE1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 288622	NM_182961.4(SYNE1):c.26095-9T>C	SYNE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 500901	NM_182961.4(SYNE1):c.26093C>T (p.Thr8698Met)	SYNE1 (T8650M +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 448594	NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg)	SYNE1 (G8634R +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 287176	NM_182961.4(SYNE1):c.25984G>T (p.Val8662Leu)	SYNE1 (V8614L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290678	NM_182961.4(SYNE1):c.25983C>T (p.Asp8661=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 285738	NM_182961.4(SYNE1):c.25967T>C (p.Leu8656Pro)	SYNE1 (L8608P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595337	NM_182961.4(SYNE1):c.25966C>A (p.Leu8656Met)	SYNE1 (L8656M +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 593244	NM_182961.4(SYNE1):c.25951C>T (p.Arg8651Cys)	SYNE1 (R8651C +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 282403	NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)	SYNE1 (L8571P +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 594416	NM_182961.4(SYNE1):c.25836G>A (p.Leu8612=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 194450	NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val)	SYNE1 (M8548V +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 194451	NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)	SYNE1 (D8536A +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +4 more	GConflicting classifications of pathogenicity
Select item 501776	NM_182961.4(SYNE1):c.25705A>G (p.Ile8569Val)	SYNE1 (I8521V +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 288409	NM_182961.4(SYNE1):c.25696C>A (p.Leu8566Met)	SYNE1 (L8566M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283334	NM_182961.4(SYNE1):c.25659+7A>G	SYNE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 286199	NM_182961.4(SYNE1):c.25637A>G (p.Gln8546Arg)	SYNE1 (Q8498R +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 288190	NM_182961.4(SYNE1):c.25629C>G (p.Gly8543=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 284786	NM_182961.4(SYNE1):c.25626G>C (p.Arg8542=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 281853	NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp)	SYNE1 (R8494W +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 194449	NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)	SYNE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 499647	NM_182961.4(SYNE1):c.25601T>C (p.Val8534Ala)	SYNE1 (V8486A +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 285151	NM_182961.4(SYNE1):c.25575G>A (p.Ser8525=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 448591	NM_182961.4(SYNE1):c.25568G>A (p.Arg8523His)	SYNE1 (R8475H +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 289116	NM_182961.4(SYNE1):c.25552C>T (p.Arg8518Trp)	SYNE1 (R8470W +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 288662	NM_182961.4(SYNE1):c.25515C>T (p.Cys8505=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 497845	NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His)	SYNE1 (R8447H +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 500484	NM_182961.4(SYNE1):c.25460A>C (p.Glu8487Ala)	SYNE1 (E8439A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596815	NM_182961.4(SYNE1):c.25447A>G (p.Lys8483Glu)	SYNE1 (K8435E +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 288649	NM_182961.4(SYNE1):c.25403G>A (p.Arg8468His)	SYNE1 (R8468H +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 2334	NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)	SYNE1 (E8413K +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 285365	NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn)	SYNE1 (D8400N +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GConflicting classifications of pathogenicity
Select item 284824	NM_182961.4(SYNE1):c.25305G>T (p.Met8435Ile)	SYNE1 (M8435I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497514	NM_182961.4(SYNE1):c.25259G>A (p.Arg8420Gln)	SYNE1 (R8372Q +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 592870	NM_182961.4(SYNE1):c.25231G>A (p.Glu8411Lys)	SYNE1 (E8363K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286015	NM_182961.4(SYNE1):c.25225A>G (p.Ser8409Gly)	SYNE1 (S8361G +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 498196	NM_182961.4(SYNE1):c.25201C>T (p.Leu8401Phe)	SYNE1 (L8353F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285986	NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign/Likely benign
Select item 286589	NM_182961.4(SYNE1):c.25134C>T (p.Gly8378=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 288635	NM_182961.4(SYNE1):c.25120-6A>G	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 291218	NM_182961.4(SYNE1):c.25120-8C>A	SYNE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 501735	NM_182961.4(SYNE1):c.25119+8T>C	SYNE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 595117	NM_182961.4(SYNE1):c.25119+1G>A	SYNE1	Single nucleotide variant (splice donor variant)	SYNE1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 289340	NM_182961.4(SYNE1):c.25102A>G (p.Thr8368Ala)	SYNE1 (T8320A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281135	NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu)	SYNE1 (P8316L +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign/Likely benign
Select item 290359	NM_182961.4(SYNE1):c.25069C>T (p.Arg8357Cys)	SYNE1 (R8309C +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 289577	NM_182961.4(SYNE1):c.25051C>G (p.Gln8351Glu)	SYNE1 (Q8303E +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 538390	NM_182961.4(SYNE1):c.25046T>C (p.Ile8349Thr)	SYNE1 (I8349T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 290328	NM_182961.4(SYNE1):c.24991C>G (p.Leu8331Val)	SYNE1 (L8331V +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 285811	NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly)	SYNE1 (S8281G +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 285706	NM_182961.4(SYNE1):c.24977-5C>T	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 289779	NM_001347702.2(SYNE1):c.1510G>C (p.Gly504Arg)	SYNE1 (G8278R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 497571	NM_001347702.2(SYNE1):c.1503T>C (p.Asn501=)	SYNE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 502661	NM_001347702.2(SYNE1):c.1480C>T (p.Leu494Phe)	SYNE1 (L8268F +1 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 194309	NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=)	SYNE1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive ataxia, Beauce type +3 more	GConflicting classifications of pathogenicity
Select item 500171	NM_001347702.2(SYNE1):c.1455C>T (p.Pro485=)	SYNE1	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 598294	NM_001347702.2(SYNE1):c.1449G>T (p.Met483Ile)	SYNE1 (M8257I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 290397	NM_001347702.2(SYNE1):c.1446A>G (p.Val482=)	SYNE1	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 130428	NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala)	SYNE1 (G8252A +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 284137	NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln)	SYNE1 (R8319Q +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 194303	NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)	SYNE1 (L8247F +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +4 more	GConflicting classifications of pathogenicity
Select item 282456	NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly)	SYNE1 (D8294G +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194304	NM_182961.4(SYNE1):c.24867T>C (p.Tyr8289=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 597469	NM_182961.4(SYNE1):c.24866A>G (p.Tyr8289Cys)	SYNE1 (Y8218C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595819	NM_182961.4(SYNE1):c.24862G>A (p.Asp8288Asn)	SYNE1 (D8288N +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 283940	NM_182961.4(SYNE1):c.24861C>T (p.His8287=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 194305	NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)	SYNE1 (A8205G +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 130427	NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 288597	NM_182961.4(SYNE1):c.24806G>T (p.Arg8269Leu)	SYNE1 (R8198L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 594866	NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys)	SYNE1 (E8197K +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 290674	NM_182961.4(SYNE1):c.24801C>T (p.Ser8267=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 285072	NM_182961.4(SYNE1):c.24784G>A (p.Ala8262Thr)	SYNE1 (A8191T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 290282	NM_182961.4(SYNE1):c.24781C>G (p.Leu8261Val)	SYNE1 (L8261V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593027	NM_182961.4(SYNE1):c.24742C>T (p.Leu8248=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 596690	NM_182961.4(SYNE1):c.24728G>A (p.Arg8243His)	SYNE1 (R8243H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594144	NM_182961.4(SYNE1):c.24723C>T (p.His8241=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194306	NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)	SYNE1 (H8170Q +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 283021	NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln)	SYNE1 (H8168Q +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 289673	NM_182961.4(SYNE1):c.24660C>T (p.His8220=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +3 more	GConflicting classifications of pathogenicity
Select item 76197	NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn)	SYNE1 (D8147N +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 290294	NM_182961.4(SYNE1):c.24642+9C>A	SYNE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 283627	NM_182961.4(SYNE1):c.24642+3A>G	SYNE1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 289354	NM_182961.4(SYNE1):c.24636C>T (p.Arg8212=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 499003	NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His)	SYNE1 (R8141H +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 283642	NM_182961.4(SYNE1):c.24634C>T (p.Arg8212Cys)	SYNE1 (R8141C +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance

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