"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SYNE1"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 644270	NC_000006.11:g.(?_152443551)_(152534914_?)dup	ESR1, LOC129389688 +3 more	Duplication	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 538429	NC_000006.12:g.(?_152122416)_(153426916_?)del	SYNE1, SYNE1-AS1 +31 more	Deletion	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 1132452	NM_182961.4(SYNE1):c.26391C>T (p.Leu8797=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1077449	NM_182961.4(SYNE1):c.26376T>C (p.Asn8792=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1047425	NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser)	ESR1, SYNE1 (N8744S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 538421	NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 593818	NM_182961.4(SYNE1):c.26372C>A (p.Thr8791Lys)	ESR1, SYNE1 (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 863040	NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe)	ESR1, SYNE1 (L8788F +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +2 more	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 1415617	NM_182961.4(SYNE1):c.26352C>A (p.Phe8784Leu)	ESR1, SYNE1 (F962L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
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)	not provided +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)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 2937660	NM_182961.4(SYNE1):c.26325C>G (p.Ala8775=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2057948	NM_182961.4(SYNE1):c.26308G>A (p.Glu8770Lys)	ESR1, SYNE1 (E8770K +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 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 1440876	NM_182961.4(SYNE1):c.26285C>T (p.Ala8762Val)	SYNE1, ESR1 (A940V +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 962272	NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu)	SYNE1, ESR1 (G938E +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 860559	NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg)	ESR1, SYNE1 (G8712R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 1513254	NM_182961.4(SYNE1):c.26266CTC[2] (p.Leu8758del)	ESR1, SYNE1 (L8710del +2 more)	Microsatellite (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 1553663	NM_182961.4(SYNE1):c.26241A>G (p.Ala8747=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely 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 130436	NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met)	ESR1, SYNE1 (L8693M +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +3 more	GBenign
Select item 1024748	NM_182961.4(SYNE1):c.26215G>A (p.Gly8739Ser)	ESR1, SYNE1 (G8691S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 775974	NM_182961.4(SYNE1):c.26214C>T (p.Arg8738=)	SYNE1, ESR1	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	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)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 1057430	NM_182961.4(SYNE1):c.26213del (p.Arg8738fs)	ESR1, SYNE1 (R8690fs +2 more)	Deletion (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +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 1471881	NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val)	ESR1, SYNE1 (G915V +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
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)	Autosomal recessive ataxia, Beauce type +2 more	GBenign
Select item 1150698	NM_182961.4(SYNE1):c.26208C>T (p.Ser8736=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 471041	NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr)	ESR1, SYNE1 (S8736Y +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	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 130434	NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln)	ESR1, SYNE1 (R8687Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 765040	NM_182961.4(SYNE1):c.26196G>T (p.Gly8732=)	ESR1, SYNE1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 538400	NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu)	ESR1, SYNE1 (G8684E +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 644985	NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe)	ESR1, SYNE1 (S8679F +2 more)	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 662547	NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe)	SYNE1, ESR1 (S8678F +2 more)	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 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
Select item 2933119	NM_182961.4(SYNE1):c.26172C>T (p.Ser8724=)	ESR1, SYNE1 (R907*)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2178485	NM_182961.4(SYNE1):c.26154-9T>C	ESR1, SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1042408	NM_182961.4(SYNE1):c.26154-10C>A	ESR1, SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 708220	NM_182961.4(SYNE1):c.26154-10C>T	ESR1, SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1965519	NM_182961.4(SYNE1):c.26154-16T>A	ESR1, SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 390367	NM_182961.4(SYNE1):c.26153+18T>A	SYNE1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 2025206	NM_182961.4(SYNE1):c.26153+8C>T	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2019346	NM_182961.4(SYNE1):c.26153+6T>C	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2073794	NM_182961.4(SYNE1):c.26148T>C (p.His8716=)	SYNE1	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2102078	NM_182961.4(SYNE1):c.26138G>T (p.Ser8713Ile)	SYNE1 (S8665I +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 497363	NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=)	SYNE1	Single nucleotide variant (synonymous variant +1 more)	not provided +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 1438788	NM_182961.4(SYNE1):c.26099G>A (p.Arg8700Gln)	SYNE1 (R8700Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2948539	NM_182961.4(SYNE1):c.26095-15G>A	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1936827	NM_182961.4(SYNE1):c.26095-17dup	SYNE1	Duplication (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GBenign
Select item 2041662	NM_182961.4(SYNE1):c.26094+18G>A	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2925778	NM_182961.4(SYNE1):c.26094+17C>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 500901	NM_182961.4(SYNE1):c.26093C>T (p.Thr8698Met)	SYNE1 (T8650M +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 1397794	NM_182961.4(SYNE1):c.26078C>A (p.Pro8693Gln)	SYNE1 (P871Q +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2001150	NM_182961.4(SYNE1):c.26073C>A (p.Ser8691Arg)	SYNE1 (S8691R +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 1364466	NM_182961.4(SYNE1):c.26072G>A (p.Ser8691Asn)	SYNE1 (S8643N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1962697	NM_182961.4(SYNE1):c.26068A>G (p.Arg8690Gly)	SYNE1 (R8690G +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 1400716	NM_182961.4(SYNE1):c.26066G>A (p.Gly8689Glu)	SYNE1 (G8641E +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 130433	NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile)	SYNE1 (T8639I +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GBenign
Select item 2063644	NM_182961.4(SYNE1):c.26055T>C (p.Ser8685=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 448594	NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg)	SYNE1 (G8634R +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1572284	NM_182961.4(SYNE1):c.26043A>G (p.Ser8681=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2196715	NM_182961.4(SYNE1):c.26040C>T (p.Thr8680=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 471040	NM_182961.4(SYNE1):c.26023G>A (p.Ala8675Thr)	SYNE1 (A8675T +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 130432	NM_182961.4(SYNE1):c.26002-4A>G	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GBenign/Likely benign
Select item 2151554	NM_182961.4(SYNE1):c.26002-7C>T	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2201354	NM_182961.4(SYNE1):c.26002-17A>G	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2942099	NM_182961.4(SYNE1):c.26001+11A>T	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 1161349	NM_182961.4(SYNE1):c.26001+7_26001+8delinsTC	SYNE1	Indel (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 714296	NM_182961.4(SYNE1):c.26001+8A>C	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 739558	NM_182961.4(SYNE1):c.26001+7A>T	SYNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 471039	NM_182961.4(SYNE1):c.26001+4A>G	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 1653189	NM_182961.4(SYNE1):c.25992T>C (p.Ser8664=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2926202	NM_182961.4(SYNE1):c.25984G>A (p.Val8662Met)	SYNE1 (V8614M +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	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 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 1059322	NM_182961.4(SYNE1):c.25952G>A (p.Arg8651His)	SYNE1 (R829H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 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 2923377	NM_182961.4(SYNE1):c.25935C>T (p.Leu8645=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 805573	NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln)	SYNE1 (R819Q +3 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 3, myogenic type +3 more	GUncertain significance
Select item 2132069	NM_182961.4(SYNE1):c.25916G>C (p.Gly8639Ala)	SYNE1 (G8639A +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 1440031	NM_182961.4(SYNE1):c.25916G>A (p.Gly8639Glu)	SYNE1 (G841E +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 968702	NM_182961.4(SYNE1):c.25907A>G (p.His8636Arg)	SYNE1 (H814R +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GUncertain significance
Select item 2097149	NM_182961.4(SYNE1):c.25904T>C (p.Val8635Ala)	SYNE1 (V813A +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2931274	NM_182961.4(SYNE1):c.25866T>C (p.Asn8622=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1045919	NM_182961.4(SYNE1):c.25860G>A (p.Leu8620=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 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 provided +3 more	GConflicting classifications of pathogenicity
Select item 2192723	NM_182961.4(SYNE1):c.25843A>C (p.Met8615Leu)	SYNE1 (M817L +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 1305083	NM_182961.4(SYNE1):c.25840G>C (p.Asp8614His)	SYNE1 (D792H +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 1354093	NM_182961.4(SYNE1):c.25820T>C (p.Leu8607Pro)	SYNE1 (L8607P +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2023489	NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)	SYNE1 (Q784* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive ataxia, Beauce type +1 more	GPathogenic
Select item 2926823	NM_182961.4(SYNE1):c.25807T>C (p.Leu8603=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2004842	NM_182961.4(SYNE1):c.25797G>T (p.Lys8599Asn)	SYNE1 (K801N +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2106729	NM_182961.4(SYNE1):c.25791A>T (p.Gln8597His)	SYNE1 (Q775H +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 1093479	NM_182961.4(SYNE1):c.25789-10G>A	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1550701	NM_182961.4(SYNE1):c.25789-12T>G	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign

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