"Baylor Genetics"[submitter] AND "SYNE1"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033002	NM_182961.4(SYNE1):c.26154-2590C>G	ESR1, SYNE1 (G284A)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	GUncertain significance
Select item 1030076	NM_182961.4(SYNE1):c.25523A>G (p.Glu8508Gly)	SYNE1 (E710G +3 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 3, myogenic type	GUncertain significance
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 538386	NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu)	SYNE1 (D8047E +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GUncertain significance
Select item 1030075	NM_182961.4(SYNE1):c.23936G>A (p.Arg7979Gln)	SYNE1 (R181Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 288395	NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)	SYNE1 (I7524V +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 648470	NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His)	SYNE1 (R7507H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 577723	NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys)	SYNE1 (R7507C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 281278	NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)	SYNE1 (H7261P +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 1033001	NM_182961.4(SYNE1):c.21195+14G>C	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	GUncertain significance
Select item 449831	NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter)	SYNE1 (R6979* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive ataxia, Beauce type +2 more	GPathogenic/Likely pathogenic
Select item 810010	NM_182961.4(SYNE1):c.21077A>C (p.Glu7026Ala)	SYNE1 (E6955A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 1033000	NM_182961.4(SYNE1):c.20821A>G (p.Ile6941Val)	SYNE1 (I6941V +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 1032999	NM_182961.4(SYNE1):c.20136C>G (p.Ile6712Met)	SYNE1 (I6712M +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	GUncertain significance
Select item 2442102	NM_182961.4(SYNE1):c.19839del (p.Ile6615fs)	SYNE1 (I6544fs +1 more)	Deletion (frameshift variant)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 650466	NM_182961.4(SYNE1):c.19260+2T>C	SYNE1	Single nucleotide variant (splice donor variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely pathogenic
Select item 963648	NM_182961.4(SYNE1):c.18964G>C (p.Glu6322Gln)	SYNE1 (E6251Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2582367	NM_182961.4(SYNE1):c.18866C>A (p.Ser6289Ter)	SYNE1 (S6218* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 1032997	NM_182961.4(SYNE1):c.18409G>A (p.Val6137Met)	SYNE1 (V6066M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type	GUncertain significance
Select item 1030074	NM_182961.4(SYNE1):c.17521G>A (p.Ala5841Thr)	LOC129997480, SYNE1 (A5770T +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	GUncertain significance
Select item 283143	NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)	SYNE1, LOC129997480 (T5757R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GConflicting classifications of pathogenicity
Select item 284474	NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)	LOC126859837, SYNE1 (R5591C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 471003	NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp)	SYNE1 (R5447W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 1032318	NM_182961.4(SYNE1):c.14634A>C (p.Glu4878Asp)	SYNE1 (E4807D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 288302	NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)	SYNE1 (Y4747N +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 805551	NM_182961.4(SYNE1):c.13918T>C (p.Tyr4640His)	SYNE1 (Y4640H +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 1030073	NM_182961.4(SYNE1):c.12955A>C (p.Ser4319Arg)	SYNE1 (S4319R +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 3, myogenic type	GUncertain significance
Select item 664463	NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys)	SYNE1 (R4152C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 2582589	NM_182961.4(SYNE1):c.12066C>G (p.Ser4022Arg)	SYNE1 (S3951R +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	GUncertain significance
Select item 994793	NM_182961.4(SYNE1):c.11002G>A (p.Glu3668Lys)	SYNE1 (E3653K +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 286441	NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile)	SYNE1 (T3589I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GUncertain significance
Select item 594707	NM_182961.4(SYNE1):c.10284G>T (p.Met3428Ile)	SYNE1 (M3428I +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 538404	NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val)	SYNE1 (A3371V +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 586699	NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys)	SYNE1 (Q3360K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1031027	NM_182961.4(SYNE1):c.9821G>A (p.Arg3274Lys)	SYNE1 (R3274K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type	GUncertain significance
Select item 1033005	NM_182961.4(SYNE1):c.9220A>G (p.Arg3074Gly)	SYNE1 (R3081G +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	GUncertain significance
Select item 1030081	NM_182961.4(SYNE1):c.8984T>C (p.Ile2995Thr)	SYNE1, SYNE1-AS1 (I2995T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type	GUncertain significance
Select item 1033004	NM_182961.4(SYNE1):c.8882A>G (p.Gln2961Arg)	SYNE1, SYNE1-AS1 (Q2961R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	GUncertain significance
Select item 197983	NM_182961.4(SYNE1):c.8532G>A (p.Met2844Ile)	LOC126859838, SYNE1 (M2844I +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 1030080	NM_182961.4(SYNE1):c.6412A>G (p.Lys2138Glu)	SYNE1 (K2138E +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	GUncertain significance
Select item 283105	NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +3 more	GConflicting classifications of pathogenicity
Select item 1030079	NM_182961.4(SYNE1):c.6128A>T (p.Lys2043Met)	SYNE1 (K2050M +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	GUncertain significance
Select item 1030078	NM_182961.4(SYNE1):c.5980A>G (p.Ile1994Val)	SYNE1 (I1994V +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	GUncertain significance
Select item 1030077	NM_182961.4(SYNE1):c.5728A>G (p.Asn1910Asp)	SYNE1 (N1910D +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	GUncertain significance
Select item 594613	NM_182961.4(SYNE1):c.5417A>G (p.His1806Arg)	SYNE1 (H1806R +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 196799	NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)	SYNE1 (F1369L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GConflicting classifications of pathogenicity
Select item 196189	NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)	SYNE1 (E1179A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 283391	NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val)	SYNE1 (E1169V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1032319	NM_182961.4(SYNE1):c.1453A>G (p.Met485Val)	SYNE1 (M492V +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 282406	NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp)	SYNE1 (R170W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 497110	NM_182961.4(SYNE1):c.334A>T (p.Thr112Ser)	SYNE1 (T112S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 285295	NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys)	SYNE1 (R81C)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GUncertain significance

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Items: 52