Related gene-specific medical variations for Gene (Select 126859838) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953322	NM_182961.4(SYNE1):c.8652+3C>T	LOC126859838, SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2933503	NM_182961.4(SYNE1):c.8652+9A>T	LOC126859838, SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2931733	NM_182961.4(SYNE1):c.8595G>C (p.Arg2865=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2684064	NM_182961.4(SYNE1):c.8513T>C (p.Ile2838Thr)	LOC126859838, SYNE1 (I2838T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436551	NM_182961.4(SYNE1):c.8627C>T (p.Thr2876Ile)	LOC126859838, SYNE1 (T2876I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192387	NM_182961.4(SYNE1):c.8555T>A (p.Phe2852Tyr)	LOC126859838, SYNE1 (F2852Y +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2170549	NM_182961.4(SYNE1):c.8543C>T (p.Ala2848Val)	LOC126859838, SYNE1 (A2848V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2037702	NM_182961.4(SYNE1):c.8594G>A (p.Arg2865Gln)	LOC126859838, SYNE1 (R2865Q +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2019493	NM_182961.4(SYNE1):c.8640A>G (p.Leu2880=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 1807183	NM_182961.4(SYNE1):c.8607G>A (p.Met2869Ile)	LOC126859838, SYNE1 (M2869I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715011	NM_182961.4(SYNE1):c.8570A>G (p.His2857Arg)	LOC126859838, SYNE1 (H2857R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 1705708	NM_182961.4(SYNE1):c.8618C>G (p.Ser2873Ter)	LOC126859838, SYNE1 (S2880* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1702780	NM_182961.4(SYNE1):c.8627C>A (p.Thr2876Asn)	LOC126859838, SYNE1 (T2876N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626834	NM_182961.4(SYNE1):c.8488-15T>C	LOC126859838, SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 1575561	NM_182961.4(SYNE1):c.8580G>A (p.Lys2860=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1563982	NM_182961.4(SYNE1):c.8637G>A (p.Lys2879=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 1484510	NM_182961.4(SYNE1):c.8593C>G (p.Arg2865Gly)	LOC126859838, SYNE1 (R2865G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 1449464	NM_182961.4(SYNE1):c.8652+14C>T	LOC126859838, SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 1138256	NM_182961.4(SYNE1):c.8559A>G (p.Thr2853=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 1038436	NM_182961.4(SYNE1):c.8609C>T (p.Ser2870Phe)	LOC126859838, SYNE1 (S2870F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 1005197	NM_182961.4(SYNE1):c.8531T>A (p.Met2844Lys)	LOC126859838, SYNE1 (M2844K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 950432	NM_182961.4(SYNE1):c.8636del (p.Lys2879fs)	LOC126859838, SYNE1 (K2886fs +1 more)	Deletion (frameshift variant)	Autosomal recessive ataxia, Beauce type +1 more	GPathogenic
Select item 805584	NM_182961.4(SYNE1):c.8544G>A (p.Ala2848=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770834	NM_182961.4(SYNE1):c.8550C>T (p.His2850=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +2 more	GLikely benign
Select item 671379	NM_182961.4(SYNE1):c.8488-262T>C	LOC126859838, SYNE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670672	NM_182961.4(SYNE1):c.8488-90G>A	LOC126859838, SYNE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 631976	NM_182961.4(SYNE1):c.8494dup (p.Met2832fs)	LOC126859838, SYNE1 (M2839fs +1 more)	Duplication (frameshift variant)	SYNE1-related disorder	GUncertain significance
Select item 593710	NM_182961.4(SYNE1):c.8593C>T (p.Arg2865Trp)	LOC126859838, SYNE1 (R2865W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 586745	NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 515117	NM_182961.4(SYNE1):c.8488-15T>G	LOC126859838, SYNE1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 500361	NM_182961.4(SYNE1):c.8652+6G>T	SYNE1, LOC126859838	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 497580	NM_182961.4(SYNE1):c.8551G>A (p.Glu2851Lys)	LOC126859838, SYNE1 (E2851K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384004	NM_182961.4(SYNE1):c.8535T>G (p.Tyr2845Ter)	SYNE1, LOC126859838 (Y2845* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 355899	NM_182961.4(SYNE1):c.8571T>C (p.His2857=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +1 more	GConflicting classifications of pathogenicity
Select item 290552	NM_182961.4(SYNE1):c.8537T>C (p.Leu2846Ser)	LOC126859838, SYNE1 (L2853S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 290252	NM_182961.4(SYNE1):c.8568C>G (p.Leu2856=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 288610	NM_182961.4(SYNE1):c.8574A>G (p.Ser2858=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 286712	NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala)	LOC126859838, SYNE1 (T2860A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 285095	NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala)	LOC126859838, SYNE1 (V2849A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 284773	NM_182961.4(SYNE1):c.8625C>T (p.Ala2875=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 283256	NM_182961.4(SYNE1):c.8606T>C (p.Met2869Thr)	LOC126859838, SYNE1 (M2869T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	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

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Items: 42